98 results on '"de la Riva, M."'
Search Results
2. Apex scavengers from different European populations converge at threatened savannah landscapes
- Author
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Delgado-González, A., Cortés-Avizanda, A., Serrano, D., Arrondo, E., Duriez, O., Margalida, A., Carrete, M., Oliva-Vidal, P., Sourp, E., Morales-Reyes, Z., García-Barón, I., de la Riva, M., Sánchez-Zapata, J. A., and Donázar, J. A.
- Published
- 2022
- Full Text
- View/download PDF
3. PATTERNS OF WINTER DISTRIBUTION AND ABUNDANCE OF LESSER KESTRELS FALCO-NAUMANNI IN SPAIN
- Author
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Negro, J J, De La Riva, M, Bustamante, J, and BioStor
- Published
- 1991
4. DAYTIME ACTIVITY OF LITTLE OWLS ATHENE-NOCTUA IN SOUTHWESTERN SPAIN
- Author
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Negro, J J, De La Riva, M J, Hiraldo, F, and BioStor
- Published
- 1990
5. Dumbbell-shaped thoracic chondroid chordoma mimicking a neurinoma
- Author
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Fernández Carballal, C., González Rodrigalvarez, R., López De La Riva, M., and Ares, C.
- Published
- 2010
- Full Text
- View/download PDF
6. Reinventing mutualism between humans and wild fauna: insights from vultures as ecosystem services providers
- Author
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Gangoso, Laura, Agudo, Rosa, Anadón, J. D., De la Riva, M., Suleyman, Ahmed Saeed, Porter, Richard, and Donázar, José A.
- Subjects
human-vultures mutialism ,Egyptian vulture ,waste management ,Socotra ,ecosystem services ,economic development ,Conservation dilemma ,urban biomes - Abstract
In parallel with economic and social changes, mutualism in human-vulture relations has virtually disappeared worldwide. Here, we describe the mutualistic relationship between humans and the globally threatened Egyptian vulture in Socotra, Yemen. By analyzing both the spatial distribution of vultures and the amount of human byproducts they consume, we show that human activities enable the maintenance of the densest population of this rare scavenger, whereas vultures provide a key regulating service by disposing of up to 22.4% of the organic waste annually produced in towns. Globalization is impacting the archipelago, and therefore policies that better integrate societal needs and biodiversity conservation are urgently needed. We propose a win-win solution that relies on the restructuring of the mutualism, shifting from regulating services toward cultural services. Our study highlights the necessity of reconciling trade-offs between biodiversity conservation and economic development in a framework of global change affecting Middle Eastern countries.
- Published
- 2013
7. Demografía y Conservación del Alimoche (Neophron percnopterus) en el Sistema Bético occidental
- Author
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Benítez, J. R., Sánchez-Zapata, José A., De la Riva, M., Hernández, Francisco José, Carrete, Martina, and Donázar, José A.
- Subjects
education - Published
- 2004
8. Reinventing mutualism between humans and wild fauna: insights from vultures as ecosystem services providers
- Author
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Gangoso, L., Agudo, R., Anadón, Jose Daniel, de la Riva, M., Suleyman, A.S., Porter, R., Donázar, J.A., Gangoso, L., Agudo, R., Anadón, Jose Daniel, de la Riva, M., Suleyman, A.S., Porter, R., and Donázar, J.A.
- Abstract
In parallel with economic and social changes, mutualism in human-vulture relations has virtually disappeared worldwide. Here, we describe the mutualistic relationship between humans and the globally threatened Egyptian vulture in Socotra, Yemen. By analyzing both the spatial distribution of vultures and the amount of human byproducts they consume, we show that human activities enable the maintenance of the densest population of this rare scavenger, whereas vultures provide a key regulating service by disposing of up to 22.4% of the organic waste annually produced in towns. Globalization is impacting the archipelago, and therefore policies that better integrate societal needs and biodiversity conservation are urgently needed. We propose a win-win solution that relies on the restructuring of the mutualism, shifting from regulating services toward cultural services. Our study highlights the necessity of reconciling trade-offs between biodiversity conservation and economic development in a framework of global change affecting Middle Eastern countries.
- Published
- 2013
9. Exploring the link between MORF4L1 and risk of breast cancer.
- Author
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Martrat, G., Maxwell, C.M., Tominaga, E., Porta-de-la-Riva, M., Bonifaci, N., Gomez-Baldo, L., Bogliolo, M., Lazaro, C., Blanco, I., Brunet, J., Aguilar, H., Fernandez-Rodriguez, J., Seal, S., Renwick, A., Rahman, N., Kuhl, J., Neveling, K., Schindler, D., Ramirez, M.J., Castella, M., Hernandez, G., Easton, D.F., Peock, S., Cook, M., Oliver, C.T., Frost, D., Platte, R., Evans, D.G., Lalloo, F., Eeles, R., Izatt, L., Chu, C., Davidson, R., Ong, K.R., Cook, J., Douglas, F., Hodgson, S., Brewer, C., Morrison, P.J., Porteous, M., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Roversi, G., Barile, M., Viel, A., Pasini, B., Ottini, L., Putignano, A.L., Savarese, A., Bernard, L., Radice, P., Healey, S., Spurdle, A., Chen, X., Beesley, J., Rookus, M.A., Verhoef, S., Tilanus-Linthorst, M.A., Vreeswijk, M.P., Asperen, C.J. van, Bodmer, D., Ausems, M.G., Os, T.A. van, Blok, M.J., Meijers-Heijboer, H.E., Hogervorst, F.B.L., Goldgar, D.E., Buys, S., John, E.M., Miron, A., Southey, M., Daly, M.B., Harbst, K., Borg, A., Rantala, J., Barbany-Bustinza, G., Ehrencrona, H., Stenmark-Askmalm, M., Kaufman, B., Laitman, Y., Milgrom, R., Friedman, E., Domchek, S.M., Nathanson, K.L., Rebbeck, T.R., Johannsson, O.T., Couch, F.J., Wang, X., Fredericksen, Z., Cuadras, D., Moreno, V., Pientka, F.K., Depping, R., Caldes, T., Osorio, A., Benitez, J., Bueren, J., Heikkinen, T., Nevanlinna, H., Hamann, U., Torres, D., Caligo, M.A., Godwin, A.K., Imyanitov, E.N., Janavicius, R., Sinilnikova, O.M., Stoppa-Lyonnet, D., Mazoyer, S., Verny-Pierre, C., Castera, L., Pauw, A. de, Bignon, Y.J., Uhrhammer, N., Peyrat, J.P., Vennin, P., Ferrer, S.F., Collonge-Rame, M.A., Mortemousque, I., McGuffog, L., Chenevix-Trench, G., Pereira-Smith, O.M., Antoniou, A.C., Ceron, J., Tominaga, K., Surralles, J., Pujana, M.A., Martrat, G., Maxwell, C.M., Tominaga, E., Porta-de-la-Riva, M., Bonifaci, N., Gomez-Baldo, L., Bogliolo, M., Lazaro, C., Blanco, I., Brunet, J., Aguilar, H., Fernandez-Rodriguez, J., Seal, S., Renwick, A., Rahman, N., Kuhl, J., Neveling, K., Schindler, D., Ramirez, M.J., Castella, M., Hernandez, G., Easton, D.F., Peock, S., Cook, M., Oliver, C.T., Frost, D., Platte, R., Evans, D.G., Lalloo, F., Eeles, R., Izatt, L., Chu, C., Davidson, R., Ong, K.R., Cook, J., Douglas, F., Hodgson, S., Brewer, C., Morrison, P.J., Porteous, M., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Roversi, G., Barile, M., Viel, A., Pasini, B., Ottini, L., Putignano, A.L., Savarese, A., Bernard, L., Radice, P., Healey, S., Spurdle, A., Chen, X., Beesley, J., Rookus, M.A., Verhoef, S., Tilanus-Linthorst, M.A., Vreeswijk, M.P., Asperen, C.J. van, Bodmer, D., Ausems, M.G., Os, T.A. van, Blok, M.J., Meijers-Heijboer, H.E., Hogervorst, F.B.L., Goldgar, D.E., Buys, S., John, E.M., Miron, A., Southey, M., Daly, M.B., Harbst, K., Borg, A., Rantala, J., Barbany-Bustinza, G., Ehrencrona, H., Stenmark-Askmalm, M., Kaufman, B., Laitman, Y., Milgrom, R., Friedman, E., Domchek, S.M., Nathanson, K.L., Rebbeck, T.R., Johannsson, O.T., Couch, F.J., Wang, X., Fredericksen, Z., Cuadras, D., Moreno, V., Pientka, F.K., Depping, R., Caldes, T., Osorio, A., Benitez, J., Bueren, J., Heikkinen, T., Nevanlinna, H., Hamann, U., Torres, D., Caligo, M.A., Godwin, A.K., Imyanitov, E.N., Janavicius, R., Sinilnikova, O.M., Stoppa-Lyonnet, D., Mazoyer, S., Verny-Pierre, C., Castera, L., Pauw, A. de, Bignon, Y.J., Uhrhammer, N., Peyrat, J.P., Vennin, P., Ferrer, S.F., Collonge-Rame, M.A., Mortemousque, I., McGuffog, L., Chenevix-Trench, G., Pereira-Smith, O.M., Antoniou, A.C., Ceron, J., Tominaga, K., Surralles, J., and Pujana, M.A.
- Abstract
Contains fulltext : 96909.pdf (publisher's version ) (Open Access), INTRODUCTION: Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens. METHODS: Protein physical interactions were screened using the yeast two-hybrid system. Co-affinity purifications and endogenous co-immunoprecipitation assays were performed to corroborate interactions. Biochemical and functional assays in human, mouse and Caenorhabditis elegans models were carried out to characterize pathway components. Thirteen FANCD2-monoubiquitinylation-positive FA cell lines excluded for genetic defects in the downstream pathway components and 300 familial BrCa patients negative for BRCA1/2 mutations were analyzed for genetic mutations. Common genetic variants were genotyped in 9,573 BRCA1/2 mutation carriers for associations with BrCa risk. RESULTS: A previously identified co-purifying protein with PALB2 was identified, MRG15 (MORF4L1 gene). Results in human, mouse and C. elegans models delineate molecular and functional relationships with BRCA2, PALB2, RAD51 and RPA1 that suggest a role for MRG15 in the repair of DNA double-strand breaks. Mrg15-deficient murine embryonic fibroblasts showed moderate sensitivity to gamma-irradiation relative to controls and reduced formation of Rad51 nuclear foci. Examination of mutants of MRG15 and BRCA2 C. elegans orthologs revealed phenocopy by accumulation of RPA-1 (human RPA1) nuclear foci and aberrant chromosomal compactions in meiotic cells. However, no alterations or mutations were identified for MRG15/MORF4L1 in unclassified FA patients and BrCa familial cases. Finally, no significant associations between common MORF4L1 variants and BrCa risk for BRCA1 or BRCA2 mutation carriers were identified: rs7164529, Ptrend = 0.45 and 0.05, P2df = 0.51 and 0.14, respectively; and rs10519219, Ptrend = 0.
- Published
- 2011
10. Exploring the link between MORF4L1 and risk of breast cancer
- Author
-
Martrat, G. (Griselda), Maxwell, C.A. (Christopher), Tominaga, E. (Emiko), Porta-de-la-Riva, M. (Montserrat), Bonifaci, N. (Núria), Gómez-Baldó, L. (Laia), Bogliolo, M. (Massimo), Lázaro, C. (Conxi), Blanco, I. (Ignacio), Brunet, J. (Joan), Aguilar, H. (Helena), Fernández-Rodríguez, J. (Juana), Seal, S. (Sheila), Renwick, A. (Anthony), Rahman, N. (Nazneen), Kühl, J. (Julia), Neveling, K. (Kornelia), Schindler, D. (Detlev), Ramírez, M.J. (María), Castellà, M. (María), Hernández, G. (Gonzalo), Easton, D.F. (Douglas), Peock, S. (Susan), Cook, M. (Margaret), Oliver, C.T. (Clare), Frost, D. (Debra), Platte, R. (Radka), Evans, D.G. (Gareth), Lalloo, F. (Fiona), Eeles, R. (Rosalind), Izatt, L. (Louise), Chu, C. (Chengbin), Davidson, R. (Rosemarie), Ong, K., Douglas, F. (Fiona), Hodgson, S.V. (Shirley), Brewer, C. (Carole), Morrison, P.J. (Patrick), Porteous, M.E. (Mary), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Peissel, B. (Bernard), Zaffaroni, D. (Daniela), Roversi, G. (Gaia), Barile, M. (Monica), Viel, A. (Alessandra), Pasini, B. (Barbara), Ottini, L. (Laura), Putignano, A.L., Savarese, A. (Antonella), Bernard, L. (Loris), Radice, P. (Paolo), Healey, S. (Sue), Spurdle, A.B. (Amanda), Chen, X. (Xiaoqing), Beesley, J. (Jonathan), Rookus, M.A. (Matti), Verhoef, S., Tilanus-Linthorst, M.M.A. (Madeleine), Vreeswijk, M.P. (Maaike), Bodmer, D. (Danielle), Ausems, M.G.E.M. (Margreet), Os, T.A.M. (Theo) van, Blok, M.J. (Marinus), Meijers-Heijboer, E.J. (Hanne), Hogervorst, F.B.L. (Frans), Goldgar, D. (David), Buys, S.S. (Saundra), John, E.M. (Esther), Miron, A. (Alexander), Southey, M.C. (Melissa), Daly, M.J. (Mark), Harbst, K. (Katja), Borg, Å. (Åke), Rantala, J. (Johanna), Barbany-Bustinza, G. (Gisela), Ehrencrona, H. (Hans), Stenmark-Askmalm, M. (M.), Kaufman, B. (Bella), Laitman, Y. (Yael), Milgrom, R. (Roni), Friedman, E. (Eitan), Domchek, S.M. (Susan), Nathanson, K.L. (Katherine), Rebbeck, R. (Timothy), Johannson, O.T. (Oskar), Couch, F.J. (Fergus), Wang, X. (Xing), Fredericksen, Z. (Zachary), Cuadras, D. (Daniel), Moreno, V. (Víctor), Pientka, F.K. (Friederike), Depping, R. (Reinhard), Caldes, T. (Trinidad), Osorio, A. (Ana), Benítez, J. (Javier), Bueren, J. (Juan), Heikinen, T. (Tuomas), Nevanlinna, H. (Heli), Hamann, U. (Ute), Torres, D. (Diana), Caligo, M.A. (Maria), Godwin, A.K. (Andrew), Imyanitov, E.N. (Evgeny), Janavicius, R. (Ramunas), Sinilnikova, O. (Olga), Stoppa-Lyonnet, D. (Dominique), Mazoyer, S. (Sylvie), Verny-Pierre, C. (Carole), Castera, L. (Laurent), Pauw, A. (Antoine) de, Bignon, Y.-J. (Yves-Jean), Uhrhammer, N. (Nancy), Peyrat, J.-P., Vennin, P. (Philippe), Ferrer, S.F., Collonge-Rame, M.-A., Mortemousque, I. (Isabelle), McGuffog, L. (Lesley), Chenevix-Trench, G. (Georgia), Pereira-Smith, O.M. (Olivia), Antoniou, A.C. (Antonis), Cerón, J. (Julián), Surrallés, J. (Jordi), Pujana, M.A. (Miguel), Asperen, C.J. (Christi) van, Martrat, G. (Griselda), Maxwell, C.A. (Christopher), Tominaga, E. (Emiko), Porta-de-la-Riva, M. (Montserrat), Bonifaci, N. (Núria), Gómez-Baldó, L. (Laia), Bogliolo, M. (Massimo), Lázaro, C. (Conxi), Blanco, I. (Ignacio), Brunet, J. (Joan), Aguilar, H. (Helena), Fernández-Rodríguez, J. (Juana), Seal, S. (Sheila), Renwick, A. (Anthony), Rahman, N. (Nazneen), Kühl, J. (Julia), Neveling, K. (Kornelia), Schindler, D. (Detlev), Ramírez, M.J. (María), Castellà, M. (María), Hernández, G. (Gonzalo), Easton, D.F. (Douglas), Peock, S. (Susan), Cook, M. (Margaret), Oliver, C.T. (Clare), Frost, D. (Debra), Platte, R. (Radka), Evans, D.G. (Gareth), Lalloo, F. (Fiona), Eeles, R. (Rosalind), Izatt, L. (Louise), Chu, C. (Chengbin), Davidson, R. (Rosemarie), Ong, K., Douglas, F. (Fiona), Hodgson, S.V. (Shirley), Brewer, C. (Carole), Morrison, P.J. (Patrick), Porteous, M.E. (Mary), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Peissel, B. (Bernard), Zaffaroni, D. (Daniela), Roversi, G. (Gaia), Barile, M. (Monica), Viel, A. (Alessandra), Pasini, B. (Barbara), Ottini, L. (Laura), Putignano, A.L., Savarese, A. (Antonella), Bernard, L. (Loris), Radice, P. (Paolo), Healey, S. (Sue), Spurdle, A.B. (Amanda), Chen, X. (Xiaoqing), Beesley, J. (Jonathan), Rookus, M.A. (Matti), Verhoef, S., Tilanus-Linthorst, M.M.A. (Madeleine), Vreeswijk, M.P. (Maaike), Bodmer, D. (Danielle), Ausems, M.G.E.M. (Margreet), Os, T.A.M. (Theo) van, Blok, M.J. (Marinus), Meijers-Heijboer, E.J. (Hanne), Hogervorst, F.B.L. (Frans), Goldgar, D. (David), Buys, S.S. (Saundra), John, E.M. (Esther), Miron, A. (Alexander), Southey, M.C. (Melissa), Daly, M.J. (Mark), Harbst, K. (Katja), Borg, Å. (Åke), Rantala, J. (Johanna), Barbany-Bustinza, G. (Gisela), Ehrencrona, H. (Hans), Stenmark-Askmalm, M. (M.), Kaufman, B. (Bella), Laitman, Y. (Yael), Milgrom, R. (Roni), Friedman, E. (Eitan), Domchek, S.M. (Susan), Nathanson, K.L. (Katherine), Rebbeck, R. (Timothy), Johannson, O.T. (Oskar), Couch, F.J. (Fergus), Wang, X. (Xing), Fredericksen, Z. (Zachary), Cuadras, D. (Daniel), Moreno, V. (Víctor), Pientka, F.K. (Friederike), Depping, R. (Reinhard), Caldes, T. (Trinidad), Osorio, A. (Ana), Benítez, J. (Javier), Bueren, J. (Juan), Heikinen, T. (Tuomas), Nevanlinna, H. (Heli), Hamann, U. (Ute), Torres, D. (Diana), Caligo, M.A. (Maria), Godwin, A.K. (Andrew), Imyanitov, E.N. (Evgeny), Janavicius, R. (Ramunas), Sinilnikova, O. (Olga), Stoppa-Lyonnet, D. (Dominique), Mazoyer, S. (Sylvie), Verny-Pierre, C. (Carole), Castera, L. (Laurent), Pauw, A. (Antoine) de, Bignon, Y.-J. (Yves-Jean), Uhrhammer, N. (Nancy), Peyrat, J.-P., Vennin, P. (Philippe), Ferrer, S.F., Collonge-Rame, M.-A., Mortemousque, I. (Isabelle), McGuffog, L. (Lesley), Chenevix-Trench, G. (Georgia), Pereira-Smith, O.M. (Olivia), Antoniou, A.C. (Antonis), Cerón, J. (Julián), Surrallés, J. (Jordi), Pujana, M.A. (Miguel), and Asperen, C.J. (Christi) van
- Abstract
Introduction: Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens.Methods: Protein physical interactions were screened using the yeast two-hybrid system. Co-affinity purifications and endogenous co-immunoprecipitation assays were perform
- Published
- 2011
- Full Text
- View/download PDF
11. Exploring the link between MORF4L1 and risk of breast cancer
- Author
-
Martrat, G, Maxwell, CA, Tominaga, E, Porta-de-la-Riva, M, Bonifaci, N, Gomez-Baldo, L, Bogliolo, M, Lazaro, C (Conxi), Blanco, I, Brunet, J, Aguilar, H, Fernandez-Rodriguez, J, Seal, S, Renwick, A, Rahman, N, Kuhl, J, Neveling, K, Schindler, D, Ramirez, MJ, Castella, M, Hernandez, G, Easton, DF, Peock, S, Cook, M, Oliver, CT, Frost, D, Platte, R, Evans, DG, Lalloo, F, Eeles, R, Izatt, L, Chu, C, Davidson, R, Ong, KR, Cook, J, Douglas, F, Hodgson, S, Brewer, C, Morrison, PJ, Porteous, M, Peterlongo, P, Manoukian, S, Peissel, B, Zaffaroni, D, Roversi, G, Barile, M, Viel, A, pasini, B, Ottini, L, Putignano, AL, Savarese, A, Bernard, L, Radice, P, Healey, S, Spurdle, A, Chen, XQ, Beesley, J, Rookus, MA, Verhoef, S, Tilanus-Linthorst, MA, Vreeswijk, MP, van Asperen, CJ, Bodmer, D, Ausems, MGEM, van Os, TA, Blok, MJ, Meijers-Heijboer, HEJ, Hogervorst, FBL, Goldgar, DE, Buys, S, John, EM, Miron, A, Southey, M, Daly, MB, Harbst, K, Borg, A, Rantala, J, Barbany-Bustinza, G, Ehrencrona, H, Stenmark-Askmalm, M, Kaufman, B, Laitman, Y, Milgrom, R, Friedman, E, Domchek, SM, Nathanson, KL, Rebbeck, TR, Oskar, T, Couch, FJ, Wang, XS, Fredericksen, Z, Cuadras, D, Moreno, V, Pientka, FK, Depping, R, Caldes, T, Osorio, A, Benitez, J, Bueren, J, Heikkinen, T, Nevanlinna, H, Hamann, U, Torres, D, Caligo, MA, Godwin, AK, Imyanitov, EN, Janavicius, R, Sinilnikova, OM, Stoppa-Lyonnet, D, Mazoyer, S, Verny-Pierre, C, Castera, L, de Pauw, A, Bignon, YJ, Uhrhammer, N, Peyrat, JP, Vennin, P, Ferrer, SF, Collonge-Rame, MA, Mortemousque, I, McGuffog, L, Chenevix-Trench, G, Pereira-Smith, OM, Antoniou, AC, Ceron, J, Tominaga, K, Surralles, J, Pujana, MA, Martrat, G, Maxwell, CA, Tominaga, E, Porta-de-la-Riva, M, Bonifaci, N, Gomez-Baldo, L, Bogliolo, M, Lazaro, C (Conxi), Blanco, I, Brunet, J, Aguilar, H, Fernandez-Rodriguez, J, Seal, S, Renwick, A, Rahman, N, Kuhl, J, Neveling, K, Schindler, D, Ramirez, MJ, Castella, M, Hernandez, G, Easton, DF, Peock, S, Cook, M, Oliver, CT, Frost, D, Platte, R, Evans, DG, Lalloo, F, Eeles, R, Izatt, L, Chu, C, Davidson, R, Ong, KR, Cook, J, Douglas, F, Hodgson, S, Brewer, C, Morrison, PJ, Porteous, M, Peterlongo, P, Manoukian, S, Peissel, B, Zaffaroni, D, Roversi, G, Barile, M, Viel, A, pasini, B, Ottini, L, Putignano, AL, Savarese, A, Bernard, L, Radice, P, Healey, S, Spurdle, A, Chen, XQ, Beesley, J, Rookus, MA, Verhoef, S, Tilanus-Linthorst, MA, Vreeswijk, MP, van Asperen, CJ, Bodmer, D, Ausems, MGEM, van Os, TA, Blok, MJ, Meijers-Heijboer, HEJ, Hogervorst, FBL, Goldgar, DE, Buys, S, John, EM, Miron, A, Southey, M, Daly, MB, Harbst, K, Borg, A, Rantala, J, Barbany-Bustinza, G, Ehrencrona, H, Stenmark-Askmalm, M, Kaufman, B, Laitman, Y, Milgrom, R, Friedman, E, Domchek, SM, Nathanson, KL, Rebbeck, TR, Oskar, T, Couch, FJ, Wang, XS, Fredericksen, Z, Cuadras, D, Moreno, V, Pientka, FK, Depping, R, Caldes, T, Osorio, A, Benitez, J, Bueren, J, Heikkinen, T, Nevanlinna, H, Hamann, U, Torres, D, Caligo, MA, Godwin, AK, Imyanitov, EN, Janavicius, R, Sinilnikova, OM, Stoppa-Lyonnet, D, Mazoyer, S, Verny-Pierre, C, Castera, L, de Pauw, A, Bignon, YJ, Uhrhammer, N, Peyrat, JP, Vennin, P, Ferrer, SF, Collonge-Rame, MA, Mortemousque, I, McGuffog, L, Chenevix-Trench, G, Pereira-Smith, OM, Antoniou, AC, Ceron, J, Tominaga, K, Surralles, J, and Pujana, MA
- Abstract
Introduction: Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens. Methods: Protein physical interactions were screened using the yeast two-hybrid system. Co-affinity purifications and endogenous co-immunoprecipitation assays were performed to corroborate interactions. Biochemical and functional assays in human, mouse and Caenorhabditis elegans models were carried out to characterize pathway components. Thirteen FANCD2-monoubiquitinylation-positive FA cell lines excluded for genetic defects in the downstream pathway components and 300 familial BrCa patients negative for BRCA1/2 mutations were analyzed for genetic mutations. Common genetic variants were genotyped in 9,573 BRCA1/2 mutation carriers for associations with BrCa risk. Results: A previously identified co-purifying protein with PALB2 was identified, MRG15 (MORF4L1 gene). Results in human, mouse and C. elegans models delineate molecular and functional relationships with BRCA2, PALB2, RAD51 and RPA1 that suggest a role for MRG15 in the repair of DNA double-strand breaks. Mrg15-deficient murine embryonic fibroblasts showed moderate sensitivity to g-irradiation relative to controls and reduced formation of Rad51 nuclear foci. Examination of mutants of MRG15 and BRCA2 C. elegans orthologs revealed phenocopy by accumulation of RPA-1 (human RPA1) nuclear foci and aberrant chromosomal compactions in meiotic cells. However, no alterations or mutations were identified for MRG15/MORF4L1 in unclassified FA patients and BrCa familial cases. Finally, no significant associations between common MORF4L1 variants and BrCa risk for BRCA1 or BRCA2 mutation carriers were identified: rs7164529, P(trend) = 0.45 and 0.05, P(2df) = 0.51 and 0.14, respectively; and rs10519219, P(trend) =
- Published
- 2011
12. Dumbbell-shaped thoracic chondroid chordoma mimicking a neurinoma
- Author
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Fernández Carballal, C., primary, González Rodrigalvarez, R., additional, López De La Riva, M., additional, and Ares, C., additional
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- 2009
- Full Text
- View/download PDF
13. Patterns of winter distribution and abundance of sedentary lesser Kestrek (Falcon naumanni) in Spain
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Negro, Juan J., De la Riva, M., and Bustamante, Javier
- Abstract
[EN] During 1988—1989 we studied a wintering population of Lesser Kestrel (Falco naumnanni) in the south of Spain, by mapping the area in which they occurred and estimating their numbers. Adults of both sexes remained during winter in the vicinity of the colony at which they had previously bred. The percentage of sedentary birds to total breeders varied from 6 to 88%. All juveniles left the colonies during winter, migrating to Africa. All colonies with sedentary birds arc located in areas of farmland in the Guadalquivir river valley. This area has milder winters than the rest of the breeding range and almost never experiences frost, presumably favoring the winter activity of insects on which kestrels feed. During winter, Lesser Kestrels used communal roosts close to the colony, where they went regularly at dawn and dusk to visit the nest-holes they would be using during the next breeding season. Individuals equipped with PVC color bands showed that migrants returned to the colony from Africa gradually between February to April. Adults were the first to arrive, followed by juveniles born the previous year, [ES] ExTRAcro.—Durante 1988 y 1989 censamos y obtuvimos el area de distribuciôn de una población invernante de Cernicalos Primillas (Falco naumanni). Adultos de amhos sexos permanecieron en invierno en las cercanias de las colonias donde habian criado con anterioridad. El porcentajc de ayes sedentarias respecto al total de reproductores oscild entre el 6 y el 88%. Todos los jóvenes abandonaron las colonias en invierno, migrando a Africa. Las colonias con invernantcs cstaban localizadas en areas agricolas del valle del Guadalquivir. Esta zona tiene inviernos más templados que el resto del area de cria de la especie, y raramcntc sufre hcladas, lo que debe favorecer la actividad de los inscctos que sirven de alimento a los cernicalos en invierno. Los cernicalos utilizaban dormidcros comunales en las proximidades de las colonias y acudian a éstas al amanecer y al atardecer con el fin de visitar los nidos que utilizarian en la siguiente reproduccidn. Los controles de individuos anillados mostraron que los migrantes regresahan gradualmente a las colonias desde Africa entre febrero y abril, apareciendo primero los adultos y después los jóvencs nacidos en el ann anterior
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- 1991
14. Winter predation by Common Kestrel Falco tinnunculus on Pipistrelle Bats Pipistrellus pipistrellus in Southern Spain
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Negro, Juan J., Ibáñez, Carlos, Pérez Jordá, Juan L., De la Riva, M., Negro, Juan J., Ibáñez, Carlos, Pérez Jordá, Juan L., and De la Riva, M.
- Abstract
Between January and March 1990 we radio-tracked a male Common Kestrel Falco tinnunculus which hunted Pipistrelle Bats Pipistrellus pipistrellus at dusk on 11 of 15 days of observation. Bats left their roosts earlier, and in greater numbers, during fine weather (i.e. high air pressure, no rainfall and low wind speed). The Kestrel showed no interest in bats during poor weather and went to roost early, even though some bats were flying. From pellet analysis, we estimated that bats represented between 30% and 60% of the items eaten by this Kestrel
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- 1992
15. Ramón Lull, Pedagogía de la Cristiandad. «San José de Calasanz» Monseñor J. Tusquets
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de la Riva, M. C. Blanco
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- 1954
16. Selección de libros escolares de lectura Francisca Montilla
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de la Riva, M. C. Blanco
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- 1954
17. Exploring the link between MORF4L1 and risk of breast cancer
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Martrat, G., Maxwell, C.A., Tominaga, E., Porta-de-la-Riva, M., Bonifaci, N., Gomez-Baldo, L., Bogliolo, M., Lazaro, C., Blanco, I., Brunet, J., Aguilar, H., Fernandez-Rodriguez, J., Seal, S., Renwick, A., Rahman, N., Kuhl, J., Neveling, K., Schindler, D., Ramirez, M.J., Castella, M., Hernandez, G., Easton, D.F., Peock, S., Cook, M., Oliver, C.T., Frost, D., Platte, R., Evans, D.G., Lalloo, F., Eeles, R., Izatt, L., Chu, C., Davidson, R., Ong, K.R., Cook, J., Douglas, F., Hodgson, S., Brewer, C., Morrison, P.J., Porteous, M., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Roversi, G., Barile, M., Viel, A., Pasini, B., Ottini, L., Putignano, A.L., Savarese, A., Bernard, L., Radice, P., Healey, S., Spurdle, A., Chen, X.Q., Beesley, J., Rookus, M.A., Verhoef, S., Tilanus-Linthorst, M.A., Vreeswijk, M.P., Asperen, C.J., Bodmer, D., Ausems, M.G.E.M., Os, T.A. van, Blok, M.J., Meijers-Heijboer, H.E.J., Hogervorst, F.B.L., Goldgar, D.E., Buys, S., John, E.M., Miron, A., Southey, M., Daly, M.B., Harbst, K., Borg, A., Rantala, J., Barbany-Bustinza, G., Ehrencrona, H., Stenmark-Askmalm, M., Kaufman, B., Laitman, Y., Milgrom, R., Friedman, E., Domchek, S.M., Nathanson, K.L., Rebbeck, T.R., Oskar, T., Couch, F.J., Wang, X.S., Fredericksen, Z., Cuadras, D., Moreno, V., Pientka, F.K., Depping, R., Caldes, T., Osorio, A., Benitez, J., Bueren, J., Heikkinen, T., Nevanlinna, H., Hamann, U., Torres, D., Caligo, M.A., Godwin, A.K., Imyanitov, E.N., Janavicius, R., Sinilnikova, O.M., Stoppa-Lyonnet, D., Mazoyer, S., Verny-Pierre, C., Castera, L., Pauw, A. de, Bignon, Y.J., Uhrhammer, N., Peyrat, J.P., Vennin, P., Ferrer, S.F., Collonge-Rame, M.A., Mortemousque, I., McGuffog, L., Chenevix-Trench, G., Pereira-Smith, O.M., Antoniou, A.C., Ceron, J., Tominaga, K., Surralles, J., Pujana, M.A., EMBRACE, kConFab, HEBON, BCFR, SWE-BRCA, GEMO Study Collaborators, Human Genetics, BMC, Ed., Translational Research Laboratory, Catalan Institute of Oncology-Bellvitge Institute for Biomedical Research, Biomedical Research Centre Network for Epidemiology and Public Health (CIBERESP), Catalan Institute of Oncology, Department of Cellular and Structural Biology, The University of Texas Health Science Center at Houston (UTHealth)-Sam and Ann Barshop Institute for Longevity and Aging Studies, Chemoresistance and Predictive Factors of Tumor Response and Stromal Microenvironment, Institut d'Investigació Biomèdica de Bellvitge [Barcelone] (IDIBELL), Biomarkers and Susceptibility Unit, Department of Genetics and Microbiology, Universitat Autònoma de Barcelona (UAB), Biomedical Research Centre Network for Rare Diseases (CIBERER), Genetic Counseling and Hereditary Cancer Programme, Section of Cancer Genetics, Institute of cancer research, Department of Human Genetics, Julius-Maximilians-Universität Würzburg (JMU), Strangeways Research Laboratory, University of Cambridge [UK] (CAM)-Department of Public Health and Primary Care-Centre for Cancer Genetic Epidemiology, Centre for Cancer Genetic Epidemiology [Cambridge], University of Cambridge [UK] (CAM)-Department of Oncology, Genetic Medicine, St Mary's Hospital-NHS Foundation Trust-Manchester Academic Health Sciences Centre-Central Manchester University Hospitals, Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, Clinical Genetics Department, Guy's and St Thomas NHS Foundation Trust, Yorkshire Regional Genetics Service, St James's hospital, Ferguson-Smith Centre for Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Institute of Human Genetics, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Queen Mary University of London (QMUL)-St George's Hospital, Department of Clinical Genetics, Royal Devon & Exeter Hospital, Northern Ireland Regional Genetics Centre, Belfast City Hospital, South East of Scotland Regional Genetics Service, Western General Hospital, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine-Fondazione IRCCS Istituto Nazionale Tumori (INT), Department of Preventive and Predictive Medicine, IFOM, Istituto FIRC di Oncologia Molecolare (IFOM), Unit of Medical Genetics, Fondazione IRCCS INT, Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), Division of Experimental Oncology 1, Centro di Riferimento Oncologico (CRO), Department of Genetics, Biology and Biochemistry, Università degli studi di Torino = University of Turin (UNITO), Department of Molecular Medicine, Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome] (UNIROMA), Università degli Studi di Firenze = University of Florence (UniFI), Fiorgen Foundation for Pharmacogenomics, Division of Medical Oncology, Regina Elena Cancer Institute, Department of Experimental Oncology, IEO, Division of Genetics and Population Health, Queensland Institute of Medical Research, Department of Epidemiology, The Netherlands Cancer Institute, Family Cancer Clinic, Department of Surgical Oncology, Erasmus University Medical Center [Rotterdam] (Erasmus MC)-Family Cancer Clinic, Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), DNA Diagnostics, Radboud University Medical Center [Nijmegen], Department of Medical Genetics, University Medical Center [Utrecht], Academic Medical Center - Academisch Medisch Centrum [Amsterdam] (AMC), University of Amsterdam [Amsterdam] (UvA)-University of Amsterdam [Amsterdam] (UvA), University Hospital Maastricht, VU Medical Center, Department of Dermatology, University of Utah School of Medicine [Salt Lake City], Department of Internal Medicine, Huntsman Cancer Institute, Cancer Prevention Institute of California, Department of Cancer Biology, Dana-Farber Cancer Institute [Boston], Department of Surgery, Harvard Medical School [Boston] (HMS), Centre for Molecular, Environmental, Genetic and Analytic Epidemiology (MEGA), University of Melbourne-Melbourne School of Population Health, Division of Population Science, Fox Chase Cancer Center, Department of Oncology, Clinical Sciences, Lund University [Lund]-Skåne University Hospital, Karolinska University Hospital [Stockholm], Department of Genetics and Pathology, Uppsala University, Department of Oncology, University Hospital-Hälsouniversitetet Universitetssjukhuset, The Institute of Oncology, Chaim Sheba Medical Center, The Susanne Levy Gertner Oncogenetics Unit, Sackler Faculty of Medicine, Tel Aviv University (TAU), Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania-University of Pennsylvania, Department of Medicine, Medical Genetics, Abramson Cancer Center-Perelman School of Medicine, Center for Clinical Epidemiology and Biostatistics, Faculty of Medicine, University of Iceland [Reykjavik], Department of Laboratory Medicine and Pathology, Mayo Clinic, Department of Health Sciences Research, Statistical Assessment Service, Department of Physiology, Universität zu Lübeck = University of Lübeck [Lübeck]-Center for Structural and Cell Biology in Medicine, Medical Oncology Branch, Hospital Clínico San Carlos, Human Cancer Genetics Programme, CIBER de Enfermedades Raras (CIBERER)-Spanish National Cancer Research Centre, Division of Hematopoiesis and Gene Therapy, Centro de Investigaciones Energéticas Medioambientales y Tecnológicas [Madrid] (CIEMAT), Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Molecular Genetics of Breast Cancer, German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg] (DKFZ), Instituto de Genética Humana, Pontificia Universidad Javeriana (PUJ), Section of Genetic Oncology, University of Pisa - Università di Pisa, Department of Pathology and Laboratory Medicine, University of Kansas Medical Center [Kansas City, KS, USA], Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology, Department of Molecular and Regenerative Medicine, Hematology, Oncology and Transfusion, Vilnius University [Vilnius]-Hospital Santariskiu Clinics, Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Léon Bérard [Lyon]-Hospices Civils de Lyon (HCL), Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique Oncologique, Institut Curie [Paris], Unité de génétique et biologie des cancers (U830), Université Paris Descartes - Paris 5 (UPD5)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Département d'Oncogénétique, Centre Jean Perrin [Clermont-Ferrand] (UNICANCER/CJP), UNICANCER-UNICANCER, Laboratoire d'Oncologie Moléculaire Humaine, Centre Régional de Lutte contre le Cancer Oscar Lambret [Lille] (UNICANCER/Lille), Université de Lille-UNICANCER-Université de Lille-UNICANCER, Consultation d'Oncogénétique, Laboratoire de Génétique Chromosomique, CH Chambéry, Département de Génétique et Reproduction, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)-Hôpital Saint-Jacques, Service de génétique [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, The CIMBA data management is supported by Cancer Research - UK., kConFab, HEBON, BCFR, SWE-BRCA, GEMO Study Collaborators, Autonomous University of Barcelona, Julius-Maximilians-Universität Würzburg [Wurtzbourg, Allemagne] (JMU), Department of Oncology-University of Cambridge [UK] (CAM), University of Turin, Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome], Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI), Departament of Genetics and Pathology, Uppsala University-Rudbeck Laboratory, Tel Aviv University [Tel Aviv], University of Pennsylvania [Philadelphia]-University of Pennsylvania [Philadelphia], Universität zu Lübeck [Lübeck]-Center for Structural and Cell Biology in Medicine, University of Kansas Medical Center [Lawrence], Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Université Lille Nord de France (COMUE)-UNICANCER-Université Lille Nord de France (COMUE)-UNICANCER, Universiteit Leiden-Universiteit Leiden, Skåne University Hospital-Lund University [Lund], University of Pennsylvania [Philadelphia]-University of Pennsylvania [Philadelphia]-Abramson Cancer Center, Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Clinical Genetics, Faculteit der Geneeskunde, Klinische Genetica, RS: GROW - School for Oncology and Reproduction, Genetica & Celbiologie, Easton, Douglas [0000-0003-2444-3247], Antoniou, Antonis [0000-0001-9223-3116], Apollo - University of Cambridge Repository, Martrat, G, Maxwell, C, Tominaga, E, Porta de la Riva, M, Bonifaci, N, Gómez Baldó, L, Bogliolo, M, Lázaro, C, Blanco, I, Brunet, J, Aguilar, H, Fernández Rodríguez, J, Seal, S, Renwick, A, Rahman, N, Kühl, J, Neveling, K, Schindler, D, Ramírez, M, Castellà, M, Hernández, G, Embrace, Easton, D, Peock, S, Cook, M, Oliver, C, Frost, D, Platte, R, Evans, D, Lalloo, F, Eeles, R, Izatt, L, Chu, C, Davidson, R, Ong, K, Cook, J, Douglas, F, Hodgson, S, Brewer, C, Morrison, P, Porteous, M, Peterlongo, P, Manoukian, S, Peissel, B, Zaffaroni, D, Roversi, G, Barile, M, Viel, A, Pasini, B, Ottini, L, Putignano, A, Savarese, A, Bernard, L, Radice, P, Healey, S, Spurdle, A, Chen, X, Beesley, J, Rookus, M, Verhoef, S, Tilanus Linthorst, M, Vreeswijk, M, Asperen, C, Bodmer, D, Ausems, M, van Os, T, Blok, M, Meijers Heijboer, H, Hogervorst, F, Goldgar, D, Buys, S, John, E, Miron, A, Southey, M, Daly, M, Harbst, K, Borg, A, Rantala, J, Barbany Bustinza, G, Ehrencrona, H, Stenmark Askmalm, M, Kaufman, B, Laitman, Y, Milgrom, R, Friedman, E, Domchek, S, Nathanson, K, Rebbeck, T, Johannsson, O, Couch, F, Wang, X, Fredericksen, Z, Cuadras, D, Moreno, V, Pientka, F, Depping, R, Caldés, T, Osorio, A, Benítez, J, Bueren, J, Heikkinen, T, Nevanlinna, H, Hamann, U, Torres, D, Caligo, M, Godwin, A, Imyanitov, E, Janavicius, R, Sinilnikova, O, Stoppa Lyonnet, D, Mazoyer, S, Verny Pierre, C, Castera, L, de Pauw, A, Bignon, Y, Uhrhammer, N, Peyrat, J, Vennin, P, Ferrer, S, Collonge Rame, M, Mortemousque, I, Mcguffog, L, Chenevix Trench, G, Pereira Smith, O, Antoniou, A, Cerón, J, Tominaga, K, Surrallés, J, Pujana, M, Human genetics, CCA - Oncogenesis, Biomedical Research Centre Network for Epidemiology and Public Health ( CIBERESP ), The University of Texas Health Science Center at San Antonio-Sam and Ann Barshop Institute for Longevity and Aging Studies, Institut d'Investigació Biomèdica de Bellvitge [Barcelone] ( IDIBELL ), Biomedical Research Centre Network for Rare Diseases ( CIBERER ), University of Würzburg, University of Cambridge [UK] ( CAM ) -Department of Public Health and Primary Care-Centre for Cancer Genetic Epidemiology, University of Cambridge [UK] ( CAM ) -Department of Oncology, Birmingham Women's Hospital Healthcare NHS Trust, Sheffield Children's Hospital, Newcastle Upon Tyne Hospitals NHS Trust, Queen Mary University of London ( QMUL ) -St George's Hospital, IFOM, Istituto FIRC di Oncologia Molecolare ( IFOM ), Università degli Studi di Roma 'La Sapienza' [Rome], University of Florence, Erasmus MC-Daniel den Hoed Cancer Center-Family Cancer Clinic, University Medical Center Utrecht, Academic Medical Center [Amsterdam] ( AMC ), University of Amsterdam [Amsterdam] ( UvA ) -University of Amsterdam [Amsterdam] ( UvA ), Harvard Medical School [Boston] ( HMS ), Centre for Molecular, Environmental, Genetic and Analytic Epidemiology ( MEGA ), University of Pennsylvania School of Medicine, University of Pennsylvania School of Medicine-Abramson Cancer Center, Centro de Investigaciones Energéticas, Deutsches Krebsforschungszentrum ( DKFZ ), Pontificia Universidad Javeriana, University of Pisa [Pisa], University of Kansas Medical Center, Centre Léon Bérard [Lyon]-Hospices Civils de Lyon ( HCL ), Centre de Recherche en Cancérologie de Lyon ( CRCL ), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), INSTITUT CURIE, Unité de génétique et biologie des cancers ( U830 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut Curie-Institut National de la Santé et de la Recherche Médicale ( INSERM ), CRLCC Jean Perrin, CRLCC Oscar Lambret, Centre Hospitalier Régional Universitaire [Besançon] ( CHRU Besançon ) -Hôpital Saint-Jacques, Hôpital Bretonneau-CHRU Tours, and Universitat de Barcelona
- Subjects
DNA Repair ,Genes, BRCA2 ,RAD51 ,Genes, BRCA1 ,Germ-Cell ,Helicase Brip1 ,medicine.disease_cause ,[ SDV.CAN ] Life Sciences [q-bio]/Cancer ,Mice ,0302 clinical medicine ,Breast cancer ,Fanconi anemia ,Risk Factors ,Replication Protein A ,Teknik och teknologier ,Homologous Recombination ,skin and connective tissue diseases ,C-Elegans ,Genetics ,Medicine(all) ,ddc:616 ,0303 health sciences ,Mutation ,Fanconi Anemia Complementation Group D2 Protein ,Nuclear Proteins ,Anèmia aplàstica ,3. Good health ,030220 oncology & carcinogenesis ,Chromodomain Protein ,Engineering and Technology ,Female ,RNA Interference ,Fanconi Anemia Complementation Group N Protein ,Aplastic anemia ,Research Article ,BRCA2 Mutation Carrier ,DNA repair ,PALB2 ,Breast Neoplasms ,[SDV.CAN]Life Sciences [q-bio]/Cancer ,Biology ,Cell Line ,Càncer de mama ,Genomic disorders and inherited multi-system disorders [IGMD 3] ,03 medical and health sciences ,SDG 3 - Good Health and Well-being ,[SDV.CAN] Life Sciences [q-bio]/Cancer ,Two-Hybrid System Techniques ,medicine ,Genetic predisposition ,Animals ,Humans ,Genetic Predisposition to Disease ,Caenorhabditis elegans ,Gene ,030304 developmental biology ,Phenocopy ,Caenorhabditis-Elegan ,Tumor Suppressor Proteins ,medicine.disease ,BRCA1 ,BRCA2 ,Pancreatic-Cancer ,Fanconi Anemia ,Genes ,Cancer and Oncology ,Fanconi-Anemia ,Cancer research ,Rad51 Recombinase ,Susceptibility Gene ,DNA Damage ,Transcription Factors - Abstract
Introduction Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens. Methods Protein physical interactions were screened using the yeast two-hybrid system. Co-affinity purifications and endogenous co-immunoprecipitation assays were performed to corroborate interactions. Biochemical and functional assays in human, mouse and Caenorhabditis elegans models were carried out to characterize pathway components. Thirteen FANCD2-monoubiquitinylation-positive FA cell lines excluded for genetic defects in the downstream pathway components and 300 familial BrCa patients negative for BRCA1/2 mutations were analyzed for genetic mutations. Common genetic variants were genotyped in 9,573 BRCA1/2 mutation carriers for associations with BrCa risk. Results A previously identified co-purifying protein with PALB2 was identified, MRG15 (MORF4L1 gene). Results in human, mouse and C. elegans models delineate molecular and functional relationships with BRCA2, PALB2, RAD51 and RPA1 that suggest a role for MRG15 in the repair of DNA double-strand breaks. Mrg15-deficient murine embryonic fibroblasts showed moderate sensitivity to γ-irradiation relative to controls and reduced formation of Rad51 nuclear foci. Examination of mutants of MRG15 and BRCA2 C. elegans orthologs revealed phenocopy by accumulation of RPA-1 (human RPA1) nuclear foci and aberrant chromosomal compactions in meiotic cells. However, no alterations or mutations were identified for MRG15/MORF4L1 in unclassified FA patients and BrCa familial cases. Finally, no significant associations between common MORF4L1 variants and BrCa risk for BRCA1 or BRCA2 mutation carriers were identified: rs7164529, Ptrend = 0.45 and 0.05, P2df = 0.51 and 0.14, respectively; and rs10519219, Ptrend = 0.92 and 0.72, P2df = 0.76 and 0.07, respectively. Conclusions While the present study expands on the role of MRG15 in the control of genomic stability, weak associations cannot be ruled out for potential low-penetrance variants at MORF4L1 and BrCa risk among BRCA2 mutation carriers.
18. Heterotopic Gastric Mucosa in the Rectum.
- Author
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Castellanos, D., Menchen, P., L�pez de la Riva, M., Clemente, G., Senen, Mc., Rabago, L., Garcia Andrade, Mc., and Alcal�-Santaella, R.
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- 1984
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- View/download PDF
19. Dumbbell-shaped thoracic chondroid chordoma mimicking a neurinoma.
- Author
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Carballal, C. Fernández, González^Rodrigalvarez, R., De La Riva, M. López, and Ares, C.
- Subjects
ACOUSTIC neuroma ,MAGNETIC resonance imaging ,PROGNOSIS ,SPINAL canal ,HOSPITALS - Abstract
A 31-year-old woman was admitted to the hospital with paraparesis and pyramidal signs. Magnetic resonance imaging disclosed a homogenously enhaced mass occupying the spinal canal at the T1-T2 level and extending to the apical pleural space through the right intervertebral foramen. Surgical resection was achieved using a laminectomy and complete facetectomy. Histological examination indicated chondroid chordoma. The patient received postoperative proton radiotheraphy. Chondroid chordoma is a subtype of chordomas with better prognosis, and it may appear as a dumbbell-shaped tumor as previously described in classical chordomas. [ABSTRACT FROM AUTHOR]
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- 2010
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20. Winter predation by common kestrel Falco tinnunculus on pipistrelle bats Pipistrellus pipistrellus in southern Spain
- Author
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Negro, J. J., de La Riva, M. J. Riva, Ibanez, C., and Jorda, J. L. Perez
- Published
- 1992
- Full Text
- View/download PDF
21. AI-Enhanced evaluation of YouTube content on post-surgical incontinence following pelvic cancer treatment.
- Author
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Rodriguez-Rodriguez AM, De la Fuente-Costa M, Escalera-de la Riva M, Perez-Dominguez B, Paseiro-Ares G, Casaña J, and Blanco-Diaz M
- Abstract
Background: Several pelvic area cancers exhibit high incidence rates, and their surgical treatment can result in adverse effects such as urinary and fecal incontinence, significantly impacting patients' quality of life. Post-surgery incontinence is a significant concern, with prevalence rates ranging from 25 to 45% for urinary incontinence and 9-68% for fecal incontinence. Cancer survivors are increasingly turning to YouTube as a platform to connect with others, yet caution is warranted as misinformation is prevalent., Objective: This study aims to evaluate the information quality in YouTube videos about post-surgical incontinence after pelvic area cancer surgery., Methods: A YouTube search for " Incontinence after cancer surgery " yielded 108 videos, which were subsequently analyzed. To evaluate these videos, several quality assessment tools were utilized, including DISCERN, GQS, JAMA, PEMAT, and MQ-VET. Statistical analyses, such as descriptive statistics and intercorrelation tests, were employed to assess various video attributes, including characteristics, popularity, educational value, quality, and reliability. Also, artificial intelligence techniques like PCA, t-SNE, and UMAP were used for data analysis. HeatMap and Hierarchical Clustering Dendrogram techniques validated the Machine Learning results., Results: The quality scales presented a high level of correlation one with each other ( p < 0.01) and the Artificial Intelligence-based techniques presented clear clustering representations of the dataset samples, which were reinforced by the Heat Map and Hierarchical Clustering Dendrogram., Conclusions: YouTube videos on " Incontinence after Cancer Surgery " present a " High " quality across multiple scales. The use of AI tools, like PCA, t-SNE, and UMAP, is highlighted for clustering large health datasets, improving data visualization, pattern recognition, and complex healthcare analysis., Competing Interests: The authors declare no conflict of interest., (© 2024 The Authors.)
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- 2024
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22. Bioluminescence as a functional tool for visualizing and controlling neuronal activity in vivo .
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Porta-de-la-Riva M, Morales-Curiel LF, Carolina Gonzalez A, and Krieg M
- Abstract
The use of bioluminescence as a reporter for physiology in neuroscience is as old as the discovery of the calcium-dependent photon emission of aequorin. Over the years, luciferases have been largely replaced by fluorescent reporters, but recently, the field has seen a renaissance of bioluminescent probes, catalyzed by unique developments in imaging technology, bioengineering, and biochemistry to produce luciferases with previously unseen colors and intensity. This is not surprising as the advantages of bioluminescence make luciferases very attractive for noninvasive, longitudinal in vivo observations without the need of an excitation light source. Here, we review how the development of dedicated and specific sensor-luciferases afforded, among others, transcranial imaging of calcium and neurotransmitters, or cellular metabolites and physical quantities such as forces and membrane voltage. Further, the increased versatility and light output of luciferases have paved the way for a new field of functional bioluminescence optogenetics, in which the photon emission of the luciferase is coupled to the gating of a photosensor, e.g., a channelrhodopsin and we review how they have been successfully used to engineer synthetic neuronal connections. Finally, we provide a primer to consider important factors in setting up functional bioluminescence experiments, with a particular focus on the genetic model Caenorhabditis elegans , and discuss the leading challenges that the field needs to overcome to regain a competitive advantage over fluorescence modalities. Together, our paper caters to experienced users of bioluminescence as well as novices who would like to experience the advantages of luciferases in their own hand., (© 2024 The Authors.)
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- 2024
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23. Assessing the Quality of YouTube's Incontinence Information after Cancer Surgery: An Innovative Graphical Analysis.
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Rodriguez-Rodriguez AM, De la Fuente-Costa M, Escalera-de la Riva M, Domínguez-Navarro F, Perez-Dominguez B, Paseiro-Ares G, Casaña-Granell J, and Blanco-Diaz M
- Abstract
Background: Prostate and colorectum cancers rank among the most common cancers, and incontinence is a significant postsurgical issue affecting the physical and psychological well-being of cancer survivors. Social media, particularly YouTube, has emerged as a vital source of health information. While YouTube offers valuable content, users must exercise caution due to potential misinformation., Objective: This study aims to assess the quality of publicly available YouTube videos related to incontinence after pelvic cancer surgery., Methods: A search on YouTube related to "Incontinence after cancer surgery" was performed, and 108 videos were analyzed. Multiple quality assessment tools (DISCERN, GQS, JAMA, PEMAT, and MQ-VET) and statistical analyses (descriptive statistics and intercorrelation tests) were used to evaluate the characteristics and popularity, educational value, quality, and reliability of these videos, relying on novel graphical representation techniques such as Sankey and Chord diagrams., Results: Strong positive correlations were found among quality rating scales, emphasizing agreement. The performed graphical analysis reinforced the reliability and validity of quality assessments., Conclusions: This study found strong correlations among five quality scales, suggesting their effectiveness in assessing health information quality. The evaluation of YouTube videos consistently revealed "high" quality content. Considering the source is mandatory when assessing quality, healthcare and academic institutions are reliable sources. Caution is advised with ad-containing videos. Future research should focus on policy improvements and tools to aid patients in finding high-quality health content.
- Published
- 2024
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24. A MEC-2/stomatin condensate liquid-to-solid phase transition controls neuronal mechanotransduction during touch sensing.
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Sanfeliu-Cerdán N, Català-Castro F, Mateos B, Garcia-Cabau C, Ribera M, Ruider I, Porta-de-la-Riva M, Canals-Calderón A, Wieser S, Salvatella X, and Krieg M
- Subjects
- Animals, Mechanoreceptors physiology, Connectin, Mechanotransduction, Cellular physiology, Caenorhabditis elegans genetics, Neurons, Membrane Proteins physiology, Touch physiology, Caenorhabditis elegans Proteins genetics
- Abstract
A growing body of work suggests that the material properties of biomolecular condensates ensuing from liquid-liquid phase separation change with time. How this aging process is controlled and whether the condensates with distinct material properties can have different biological functions is currently unknown. Using Caenorhabditis elegans as a model, we show that MEC-2/stomatin undergoes a rigidity phase transition from fluid-like to solid-like condensates that facilitate transport and mechanotransduction, respectively. This switch is triggered by the interaction between the SH3 domain of UNC-89 (titin/obscurin) and MEC-2. We suggest that this rigidity phase transition has a physiological role in frequency-dependent force transmission in mechanosensitive neurons during body wall touch. Our data demonstrate a function for the liquid and solid phases of MEC-2/stomatin condensates in facilitating transport or mechanotransduction, and a previously unidentified role for titin homologues in neurons., (© 2023. The Author(s).)
- Published
- 2023
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25. Socioeconomic status and treatment outcomes in women with genito-pelvic pain penetration disorder: A longitudinal study of a therapeutic educational program dataset.
- Author
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Perez-Dominguez B, Rodriguez-Rodriguez AM, De la Fuente-Costa M, Escalera-de la Riva M, Casana-Granell J, Escobio-Prieto I, and Blanco-Diaz M
- Abstract
Sexual health is crucial for overall well-being, and dyspareunia (genito-pelvic pain/penetration disorder) is a common sexual disorder that can be addressed through multimodal physiotherapy approaches, including education. However, it's unclear whether socioeconomic factors influence the effectiveness of educational therapies for dyspareunia. The dataset presented in this article was used in a pilot randomized controlled trial that aimed to investigate any potential correlation between socioeconomic status and the outcomes of a therapeutic educational program for dyspareunia, evaluating the impact of a therapeutic educational program on 69 women. The data measured pain intensity, pain-related outcomes, and sexual functioning over time. In February 2022, socioeconomic status measurements (age, educational level, household monthly income, and job rank) were collected. The analysis used Pearson's correlation index and Spearman's rho statistic to assess any correlations between these variables. The results of the correlation analysis indicated that there was no significant correlation between any of the outcomes of the intervention and the socioeconomic status measurements. The data analysis findings suggest that a therapeutic educational program can effectively improve pain intensity, pain-related outcomes, and sexual functioning in patients with persistent pelvic pain, regardless of their socioeconomic status. These findings have policy implications, as they suggest that education is a powerful tool that can improve sexuality outcomes for patients with dyspareunia, regardless of their socioeconomic background. The dataset contains the collected raw data, including partial participant demographics data and scores categorized by question group, as well as scores for each participant at each time point (before and after the intervention). This dataset can be used to further analyze the results and the study can be potentially replicated., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. The authors declare the following financial interests/personal relationships which may be considered as potential competing interests., (© 2023 The Author(s).)
- Published
- 2023
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26. FLInt: single shot safe harbor transgene integration via Fluorescent Landmark Interference.
- Author
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Malaiwong N, Porta-de-la-Riva M, and Krieg M
- Subjects
- Animals, Transgenes, Animals, Genetically Modified, Phenotype, CRISPR-Cas Systems, Genome, Chromosomes
- Abstract
The stable incorporation of transgenes and recombinant DNA material into the host genome is a bottleneck in many bioengineering applications. Due to the low efficiency, identifying the transgenic animals is often a needle in the haystack. Thus, optimal conditions require efficient screening procedures, but also known and safe landing sites that do not interfere with host expression, low input material and strong expression from the new locus. Here, we leverage an existing library of ≈300 different loci coding for fluorescent markers that are distributed over all 6 chromosomes in Caenorhabditis elegans as safe harbors for versatile transgene integration sites using CRISPR/Cas9. We demonstrated that a single crRNA was sufficient for cleavage of the target region and integration of the transgene of interest, which can be easily followed by loss of the fluorescent marker. The same loci can also be used for extrachromosomal landing sites and as co-CRISPR markers without affecting body morphology or animal behavior. Thus, our method overcomes the uncertainty of transgene location during random mutagenesis, facilitates easy screening through fluorescence interference and can be used as co-CRISPR markers without further influence in phenotypes., Competing Interests: Conflicts of interest statement The authors identify no conflict of interest., (© The Author(s) 2023. Published by Oxford University Press on behalf of the Genetics Society of America.)
- Published
- 2023
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27. Neural engineering with photons as synaptic transmitters.
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Porta-de-la-Riva M, Gonzalez AC, Sanfeliu-Cerdán N, Karimi S, Malaiwong N, Pidde A, Morales-Curiel LF, Fernandez P, González-Bolívar S, Hurth C, and Krieg M
- Subjects
- Animals, Neurons physiology, Synaptic Transmission, Caenorhabditis elegans physiology, Photons, Calcium
- Abstract
Neuronal computation is achieved through connections of individual neurons into a larger network. To expand the repertoire of endogenous cellular communication, we developed a synthetic, photon-assisted synaptic transmission (PhAST) system. PhAST is based on luciferases and channelrhodopsins that enable the transmission of a neuronal state across space, using photons as neurotransmitters. PhAST overcomes synaptic barriers and rescues the behavioral deficit of a glutamate mutant with conditional, calcium-triggered photon emission between two neurons of the Caenorhabditis elegans nociceptive avoidance circuit. To demonstrate versatility and flexibility, we generated de novo synaptic transmission between two unconnected cells in a sexually dimorphic neuronal circuit, suppressed endogenous nocifensive response through activation of an anion channelrhodopsin and switched attractive to aversive behavior in an olfactory circuit. Finally, we applied PhAST to dissect the calcium dynamics of the temporal pattern generator in a motor circuit for ovipositioning. In summary, we established photon-based synaptic transmission that facilitates the modification of animal behavior., (© 2023. The Author(s), under exclusive licence to Springer Nature America, Inc.)
- Published
- 2023
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28. Assessing the outcomes of manual physical therapy and conventional treatment for chronic pediatric constipation: A dataset analysis of quality of life.
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Blanco-Diaz M, Rodriguez-Rodriguez AM, De la Fuente-Costa M, Escalera-de la Riva M, Hernandez-Sanchez S, Perez-Dominguez B, Casana-Granell J, and Escobio-Prieto I
- Abstract
The dataset presented in this article was used in a pilot randomized and controlled trial that evaluated the effectiveness of manual physical therapy (MPT) compared to conventional pharmacologic treatment (CPT) for treating chronic pediatric functional constipation (CPC). The pilot trial was carried out at the Central University Hospital of Asturias in Oviedo, Spain, with 47 children between 2 and 12 years old being evaluated by a Pediatric Gastroenterologist. Participants received 9 sessions of MPT which were spaced out weekly for the first two months and bi-weekly for the third month. The Pediatric Quality of Life questionnaire (PedsQL
TM ) scores were assessed at the start of the trial (Time 1), its end (Time 2), and 5 years later (Time 3). The dataset contains the collected raw data, including participant demographics data and PedsQLTM scores categorized by question group, as well as total scores for each participant at each time point. This dataset can be used to further analyze the results and the study can be potentially replicated., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2023 The Authors.)- Published
- 2023
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29. Large-scale movement patterns in a social vulture are influenced by seasonality, sex, and breeding region.
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Morant J, Arrondo E, Sánchez-Zapata JA, Donázar JA, Cortés-Avizanda A, De La Riva M, Blanco G, Martínez F, Oltra J, Carrete M, Margalida A, Oliva-Vidal P, Martínez JM, Serrano D, and Pérez-García JM
- Abstract
Quantifying space use and segregation, as well as the extrinsic and intrinsic factors affecting them, is crucial to increase our knowledge of species-specific movement ecology and to design effective management and conservation measures. This is particularly relevant in the case of species that are highly mobile and dependent on sparse and unpredictable trophic resources, such as vultures. Here, we used the GPS-tagged data of 127 adult Griffon Vultures Gyps fulvus captured at five different breeding regions in Spain to describe the movement patterns (home-range size and fidelity, and monthly cumulative distance). We also examined how individual sex, season, and breeding region determined the cumulative distance traveled and the size and overlap between consecutive monthly home-ranges. Overall, Griffon Vultures exhibited very large annual home-range sizes of 5027 ± 2123 km
2 , mean monthly cumulative distances of 1776 ± 1497 km, and showed a monthly home-range fidelity of 67.8 ± 25.5%. However, individuals from northern breeding regions showed smaller home-ranges and traveled shorter monthly distances than those from southern ones. In all cases, home-ranges were larger in spring and summer than in winter and autumn, which could be related to difference in flying conditions and food requirements associated with reproduction. Moreover, females showed larger home-ranges and less monthly fidelity than males, indicating that the latter tended to use the similar areas throughout the year. Overall, our results indicate that both extrinsic and intrinsic factors modulate the home-range of the Griffon Vulture and that spatial segregation depends on sex and season at the individual level, without relevant differences between breeding regions in individual site fidelity. These results have important implications for conservation, such as identifying key threat factors necessary to improve management actions and policy decisions., Competing Interests: The authors declare no competing interests., (© 2023 The Authors. Ecology and Evolution published by John Wiley & Sons Ltd.)- Published
- 2023
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30. Volumetric imaging of fast cellular dynamics with deep learning enhanced bioluminescence microscopy.
- Author
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Morales-Curiel LF, Gonzalez AC, Castro-Olvera G, Lin LL, El-Quessny M, Porta-de-la-Riva M, Severino J, Morera LB, Venturini V, Ruprecht V, Ramallo D, Loza-Alvarez P, and Krieg M
- Subjects
- Animals, Mice, Zebrafish, Cytoplasm, Cell Nucleus, Microscopy, Fluorescence, Caenorhabditis elegans, Deep Learning
- Abstract
Bioluminescence microscopy is an appealing alternative to fluorescence microscopy, because it does not depend on external illumination, and consequently does neither produce spurious background autofluorescence, nor perturb intrinsically photosensitive processes in living cells and animals. The low photon emission of known luciferases, however, demands long exposure times that are prohibitive for imaging fast biological dynamics. To increase the versatility of bioluminescence microscopy, we present an improved low-light microscope in combination with deep learning methods to image extremely photon-starved samples enabling subsecond exposures for timelapse and volumetric imaging. We apply our method to image subcellular dynamics in mouse embryonic stem cells, epithelial morphology during zebrafish development, and DAF-16 FoxO transcription factor shuttling from the cytoplasm to the nucleus under external stress. Finally, we concatenate neural networks for denoising and light-field deconvolution to resolve intracellular calcium dynamics in three dimensions of freely moving Caenorhabditis elegans., (© 2022. The Author(s).)
- Published
- 2022
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31. Vultures as an overlooked model in cognitive ecology.
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van Overveld T, Sol D, Blanco G, Margalida A, de la Riva M, and Donázar JA
- Subjects
- Animals, Birds, Cognition, Ecology, Problem Solving, Falconiformes
- Abstract
Despite important recent advances in cognitive ecology, our current understanding of avian cognition still largely rests on research conducted on a few model taxa. Vultures are an ecologically distinctive group of species by being the only obligate carrion consumers across terrestrial vertebrates. Their unique scavenging lifestyle suggests they have been subject to particular selective pressures to locate scarce, unpredictable, ephemeral, and nutritionally challenging food. However, substantial variation exists among species in diet, foraging techniques and social structure of populations. Here, we provide an overview of the current knowledge on vulture cognition through a comprehensive literature review and a compilation of our own observations. We find evidence for a variety of innovative foraging behaviors, scrounging tactics, collective problem-solving abilities and tool-use, skills that are considered indicative of enhanced cognition and that bear clear connections with the eco-social lifestyles of species. However, we also find that the cognitive basis of these skills remain insufficiently studied, and identify new research areas that require further attention in the future. Despite these knowledge gaps and the challenges of working with such large animals, we conclude that vultures may provide fresh insight into our knowledge of the ecology and evolution of cognition., (© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
- Published
- 2022
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32. Gain of Function of Malate Dehydrogenase 2 and Familial Hyperglycemia.
- Author
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Jungtrakoon Thamtarana P, Marucci A, Pannone L, Bonnefond A, Pezzilli S, Biagini T, Buranasupkajorn P, Hastings T, Mendonca C, Marselli L, Di Paola R, Abubakar Z, Mercuri L, Alberico F, Flex E, Ceròn J, Porta-de-la-Riva M, Ludovico O, Carella M, Martinelli S, Marchetti P, Mazza T, Froguel P, Trischitta V, Doria A, and Prudente S
- Subjects
- Adult, Aged, Aged, 80 and over, Animals, Animals, Genetically Modified, Blood Glucose analysis, Caenorhabditis elegans, Caenorhabditis elegans Proteins genetics, Caenorhabditis elegans Proteins metabolism, Case-Control Studies, Cell Line, Tumor, DNA Mutational Analysis, Female, Gain of Function Mutation, Humans, Hyperglycemia blood, Insulin analysis, Insulin metabolism, Insulin Secretion genetics, Islets of Langerhans, Malate Dehydrogenase metabolism, Male, Mice, Middle Aged, Models, Animal, Primary Cell Culture, Recombinant Proteins genetics, Recombinant Proteins metabolism, Exome Sequencing, Blood Glucose metabolism, Hyperglycemia genetics, Malate Dehydrogenase genetics
- Abstract
Context: Genes causing familial forms of diabetes mellitus are only partially known., Objective: We set out to identify the genetic cause of hyperglycemia in multigenerational families with an apparent autosomal dominant form of adult-onset diabetes not due to mutations in known monogenic diabetes genes., Methods: Existing whole-exome sequencing (WES) data were used to identify exonic variants segregating with diabetes in 60 families from the United States and Italy. Functional studies were carried out in vitro (transduced MIN6-K8 cells) and in vivo (Caenorhabditis elegans) to assess the diabetogenic potential of 2 variants in the malate dehydrogenase 2 (MDH2) gene linked with hyperglycemia in 2 of the families., Results: A very rare mutation (p.Arg52Cys) in MDH2 strongly segregated with hyperglycemia in 1 family from the United States. An infrequent MDH2 missense variant (p.Val160Met) also showed disease cosegregation in a family from Italy, although with reduced penetrance. In silico, both Arg52Cys and Val160Met were shown to affect MDH2 protein structure and function. In transfected HepG2 cells, both variants significantly increased MDH2 enzymatic activity, thereby decreasing the NAD+/NADH ratio-a change known to affect insulin signaling and secretion. Stable expression of human wild-type MDH2 in MIN6-K8 cell lines enhanced glucose- and GLP-1-stimulated insulin secretion. This effect was blunted by the Cys52 or Met160 substitutions. Nematodes carrying equivalent changes at the orthologous positions of the mdh-2 gene showed impaired glucose-stimulated insulin secretion., Conclusion: Our findings suggest a central role of MDH2 in human glucose homeostasis and indicate that gain of function variants in this gene may be involved in the etiology of familial forms of diabetes., (© The Author(s) 2021. Published by Oxford University Press on behalf of the Endocrine Society. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)
- Published
- 2022
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33. An asymmetric mechanical code ciphers curvature-dependent proprioceptor activity.
- Author
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Das R, Lin LC, Català-Castro F, Malaiwong N, Sanfeliu-Cerdán N, Porta-de-la-Riva M, Pidde A, and Krieg M
- Abstract
A repetitive gait cycle is an archetypical component within the behavioral repertoire of many animals including humans. It originates from mechanical feedback within proprioceptors to adjust the motor program during locomotion and thus leads to a periodic orbit in a low-dimensional space. Here, we investigate the mechanics, molecules, and neurons responsible for proprioception in Caenorhabditis elegans to gain insight into how mechanosensation shapes the orbital trajectory to a well-defined limit cycle. We used genome editing, force spectroscopy, and multiscale modeling and found that alternating tension and compression with the spectrin network of a single proprioceptor encodes body posture and informs TRP-4/NOMPC and TWK-16/TREK2 homologs of mechanosensitive ion channels during locomotion. In contrast to a widely accepted model of proprioceptive “stretch” reception, we found that proprioceptors activated locally under compressive stresses in-vivo and in-vitro and propose that this property leads to compartmentalized activity within long axons delimited by curvature-dependent mechanical stresses.
- Published
- 2021
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34. Ancestral function of Inhibitors-of-kappaB regulates Caenorhabditis elegans development.
- Author
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Brena D, Bertran J, Porta-de-la-Riva M, Guillén Y, Cornes E, Kukhtar D, Campos-Vicens L, Fernández L, Pecharroman I, García-López A, Islam ABMMK, Marruecos L, Bigas A, Cerón J, and Espinosa L
- Subjects
- Animals, Caenorhabditis elegans genetics, Caenorhabditis elegans Proteins genetics, Cell Differentiation physiology, I-kappa B Proteins genetics, Polycomb-Group Proteins genetics, Caenorhabditis elegans metabolism, Caenorhabditis elegans Proteins metabolism, Chromatin metabolism, I-kappa B Proteins metabolism, Polycomb-Group Proteins metabolism
- Abstract
Mammalian IκB proteins (IκBs) exert their main function as negative regulators of NF-κB, a central signaling pathway controlling immunity and inflammation. An alternative chromatin role for IκBs has been shown to affect stemness and cell differentiation. However, the involvement of NF-κB in this function has not been excluded. NFKI-1 and IKB-1 are IκB homologs in Caenorhabditis elegans, which lacks NF-κB nuclear effectors. We found that nfki-1 and ikb-1 mutants display developmental defects that phenocopy mutations in Polycomb and UTX-1 histone demethylase, suggesting a role for C. elegans IκBs in chromatin regulation. Further supporting this possibility (1) we detected NFKI-1 in the nucleus of cells; (2) NFKI-1 and IKB-1 bind to histones and Polycomb proteins, (3) and associate with chromatin in vivo, and (4) mutations in nfki-1 and ikb-1 alter chromatin marks. Based on these results, we propose that ancestral IκB inhibitors modulate Polycomb activity at specific gene subsets with an impact on development.
- Published
- 2020
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35. Too much is bad: increasing numbers of livestock and conspecifics reduce body mass in an avian scavenger.
- Author
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Donázar JA, Barbosa JM, García-Alfonso M, van Overveld T, Gangoso L, and de la Riva M
- Subjects
- Animals, Animals, Wild, Birds, Fishes, Humans, Falconiformes, Livestock
- Abstract
Individual traits such as body mass can serve as early warning signals of changes in the fitness prospects of animal populations facing environmental impacts. Here, taking advantage of a 19-yr monitoring, we assessed how individual, population, and environmental factors modulate long-term changes in the body mass of Canarian Egyptian vultures. Individual vulture body mass increased when primary productivity was highly variable, but decreased in years with a high abundance of livestock. We hypothesized that carcasses of wild animals, a natural food resource that can be essential for avian scavengers, could be more abundant in periods of weather instability but depleted when high livestock numbers lead to overgrazing. In addition, increasing vulture population numbers also negatively affect body mass suggesting density-dependent competition for food. Interestingly, the relative strength of individual, population and resource availability factors on body mass changed with age and territorial status, a pattern presumably shaped by differences in competitive abilities and/or age-dependent environmental knowledge and foraging skills. Our study supports that individual plastic traits may be extremely reliable tools to better understand the response of secondary consumers to current and future natural and human-induced environmental changes., (© 2020 by the Ecological Society of America.)
- Published
- 2020
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36. Tyrosol, a simple phenol from EVOO, targets multiple pathogenic mechanisms of neurodegeneration in a C. elegans model of Parkinson's disease.
- Author
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Garcia-Moreno JC, Porta de la Riva M, Martínez-Lara E, Siles E, and Cañuelo A
- Subjects
- Animals, Animals, Genetically Modified, Antioxidants administration & dosage, Caenorhabditis elegans, Dietary Supplements, Nerve Degeneration diet therapy, Nerve Degeneration metabolism, Nerve Degeneration pathology, Parkinsonian Disorders metabolism, Phenylethyl Alcohol administration & dosage, alpha-Synuclein antagonists & inhibitors, alpha-Synuclein metabolism, Disease Models, Animal, Drug Delivery Systems methods, Olive Oil administration & dosage, Parkinsonian Disorders diet therapy, Parkinsonian Disorders pathology, Phenylethyl Alcohol analogs & derivatives
- Abstract
Parkinson's disease (PD) is a common neurodegenerative disorder involving α-synuclein (α-syn) aggregation, oxidative stress, dysregulation of redox metal homeostasis, and neurotoxicity. Different phenolic compounds with known antioxidant or antichelating properties have been shown to also interfere with aggregation of amyloid proteins and modulate intracellular signaling pathways. The present study aims to investigate for the first time the effect of tyrosol (TYR), a simple phenol present in extra-virgin olive oil, on α-syn aggregation in a Caenorhabditis elegans model of PD and evaluate its potential to prevent α-syn toxicity, neurodegeneration, and oxidative stress in this model organism. Our results show that TYR is effective in reducing α-syn inclusions, resulting in a lower toxicity and extended life span of treated nematodes. Moreover, TYR delayed α-syn-dependent degeneration of dopaminergic neurons in vivo. TYR treatment also reduced reactive oxygen species level and promoted the expression of specific chaperones and antioxidant enzymes. Overall, our study puts into perspective TYR potential to be considered as nutraceutical that targets pivotal causal factors in PD., (Copyright © 2019 Elsevier Inc. All rights reserved.)
- Published
- 2019
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37. Rationally designed azobenzene photoswitches for efficient two-photon neuronal excitation.
- Author
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Cabré G, Garrido-Charles A, Moreno M, Bosch M, Porta-de-la-Riva M, Krieg M, Gascón-Moya M, Camarero N, Gelabert R, Lluch JM, Busqué F, Hernando J, Gorostiza P, and Alibés R
- Subjects
- Animals, Calcium Channels metabolism, Cell Line, Computational Biology methods, HEK293 Cells, Humans, Patch-Clamp Techniques, Photons, Azo Compounds chemistry, Caenorhabditis elegans physiology, Infrared Rays, Neurons metabolism, Photochemical Processes
- Abstract
Manipulation of neuronal activity using two-photon excitation of azobenzene photoswitches with near-infrared light has been recently demonstrated, but their practical use in neuronal tissue to photostimulate individual neurons with three-dimensional precision has been hampered by firstly, the low efficacy and reliability of NIR-induced azobenzene photoisomerization compared to one-photon excitation, and secondly, the short cis state lifetime of the two-photon responsive azo switches. Here we report the rational design based on theoretical calculations and the synthesis of azobenzene photoswitches endowed with both high two-photon absorption cross section and slow thermal back-isomerization. These compounds provide optimized and sustained two-photon neuronal stimulation both in light-scattering brain tissue and in Caenorhabditis elegans nematodes, displaying photoresponse intensities that are comparable to those achieved under one-photon excitation. This finding opens the way to use both genetically targeted and pharmacologically selective azobenzene photoswitches to dissect intact neuronal circuits in three dimensions.
- Published
- 2019
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- View/download PDF
38. Food predictability and social status drive individual resource specializations in a territorial vulture.
- Author
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van Overveld T, García-Alfonso M, Dingemanse NJ, Bouten W, Gangoso L, de la Riva M, Serrano D, and Donázar JA
- Subjects
- Animal Distribution, Animals, Ecosystem, Movement, Birds physiology, Feeding Behavior, Social Behavior
- Abstract
Despite increasing work detailing the presence of foraging specializations across a range of taxa, limited attention so far has been given to the role of spatiotemporal variation in food predictability in shaping individual resource selection. Here, we studied the exploitation of human-provided carrion resources differing in predictability by Canarian Egyptian vultures (Neophron percnopterus majorensis). We focussed specifically on the role of individual characteristics and spatial constraints in shaping patterns of resource use. Using high-resolution GPS data obtained from 45 vultures tracked for 1 year, we show that individual vultures were repeatable in both their monthly use of predictable and semi-predicable resources (feeding station vs. farms) and monthly levels of mobility (home range size and flight activity). However, individual foraging activities were simultaneously characterized by a high degree of (temporal) plasticity in the use of the feeding station in specific months. Individual rank within dominance hierarchy revealed sex-dependent effects of social status on resource preference in breeding adults, illustrating the potential complex social mechanisms underpinning status-dependent resource use patterns. Our results show that predictable food at feeding stations may lead to broad-scale patterns of resource partitioning and affect both the foraging and social dynamics within local vulture populations.
- Published
- 2018
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39. Impaired Dopamine-Dependent Locomotory Behavior of C. elegans Neuroligin Mutants Depends on the Catechol-O-Methyltransferase COMT-4.
- Author
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Rodríguez-Ramos Á, Gámez-Del-Estal MM, Porta-de-la-Riva M, Cerón J, and Ruiz-Rubio M
- Subjects
- Animals, Caenorhabditis elegans genetics, Caenorhabditis elegans metabolism, Caenorhabditis elegans Proteins genetics, Catechol O-Methyltransferase genetics, Catechol O-Methyltransferase metabolism, Catechol O-Methyltransferase physiology, Dopamine metabolism, Locomotion genetics, Locomotion physiology, RNA Interference, Serotonin metabolism, Caenorhabditis elegans Proteins metabolism, Cell Adhesion Molecules, Neuronal genetics, Cell Adhesion Molecules, Neuronal metabolism
- Abstract
Neurexins and neuroligins are neuronal membrane adhesion molecules that have been involved in neuropsychiatric and neurodevelopmental disorders. The nrx-1 and nlg-1 genes of Caenorhabditis elegans encode NRX-1 and NLG-1, orthologue proteins of human neurexins and neuroligins, respectively. Dopaminergic and serotoninergic signalling control the locomotory rate of the nematode. When well-fed animals are transferred to a plate with food (bacterial lawn), they reduce the locomotory rate. This behavior, which depends on dopamine, is known as basal slowing response (BSR). Alternatively, when food-deprived animals are moved to a plate with a bacterial lawn, further decrease their locomotory rate. This behavior, known as enhanced slowing response (ESR), is serotonin dependent. C. elegans nlg-1-deficient mutants are impaired in BSR and ESR. Here we report that nrx-1-deficient mutants were defective in ESR, but not in BSR. The nrx-1;nlg-1 double mutant was impaired in both behaviors. Interestingly, the nlg-1 mutants upregulate the expression of comt-4 which encodes an enzyme with putative catechol-O-methyltransferase activity involved in dopamine degradation. Our study also shows that comt-4(RNAi) in nlg-1-deficient mutants rescues the wild type phenotypes of BSR and ESR. On the other hand, comt-4(RNAi) in nlg-1-deficient mutants also recovers, at least partially, the gentle touch response and the pharyngeal pumping rate that were impaired in these mutants. These latter behaviors are dopamine and serotonin dependent, respectively. Based on these results we propose a model for the neuroligin function in modulating the dopamine-dependent locomotory behavior in the nematode.
- Published
- 2017
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40. Cosmetic coloration in Egyptian vultures: Mud bathing as a tool for social communication?
- Author
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van Overveld T, de la Riva M, and Donázar JA
- Subjects
- Animals, Color, Egypt, Behavior, Animal, Falconiformes physiology
- Published
- 2017
- Full Text
- View/download PDF
41. Brachial neuritis or Parsonage-Turner syndrome: A problem of liability. A presentation of 3 cases.
- Author
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Rodríguez-Hornillo M, de la Riva MC, and Ojeda R
- Subjects
- Humans, Malpractice, Operating Tables, Prognosis, Brachial Plexus Neuritis
- Abstract
Neuralgic amyotrophy, brachial neuritis or Parsonage-Turner syndrome is a rare neuromuscular involvement of unknown aetiology. When it onsets in connection with a health care act, such as childbirth or surgery, a malpractice argument is often used as a cause of adverse outcome, usually due to an incorrect position of the patient on the operating table, a circumstance which directly involves the anesthesia area. Three cases are presented of Parsonage-Turner syndrome following very different surgery, with different results as regards prognosis. A review and discussion of bibliography is presented on the possibility that such circumstances are the subject of malpractice claims. Special emphasis is placed on the most currently accepted aetiopathogenic theories, and the relationship of this syndrome with the surgical act as a determining medico-legal aspect. Valuation parameters are proposed., (Copyright © 2016 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.)
- Published
- 2016
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42. Functional Interplay of Two Paralogs Encoding SWI/SNF Chromatin-Remodeling Accessory Subunits During Caenorhabditis elegans Development.
- Author
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Ertl I, Porta-de-la-Riva M, Gómez-Orte E, Rubio-Peña K, Aristizábal-Corrales D, Cornes E, Fontrodona L, Osteikoetxea X, Ayuso C, Askjaer P, Cabello J, and Cerón J
- Subjects
- Adaptor Proteins, Signal Transducing genetics, Adaptor Proteins, Signal Transducing metabolism, Alleles, Animals, Caenorhabditis elegans genetics, Caenorhabditis elegans Proteins genetics, Cell Nucleus genetics, Chromosome Segregation, DNA-Binding Proteins, Embryonic Development genetics, Mitosis, Nuclear Proteins genetics, Nuclear Proteins metabolism, Proteomics, RNA Interference, Transcriptome, Caenorhabditis elegans growth & development, Caenorhabditis elegans Proteins metabolism, Cell Lineage genetics, Chromatin Assembly and Disassembly
- Abstract
SWI/SNF ATP-dependent chromatin-remodeling complexes have been related to several cellular processes such as transcription, regulation of chromosomal stability, and DNA repair. The Caenorhabditis elegans gene ham-3 (also known as swsn-2.1) and its paralog swsn-2.2 encode accessory subunits of SWI/SNF complexes. Using RNA interference (RNAi) assays and diverse alleles we investigated whether ham-3 and swsn-2.2 have different functions during C. elegans development since they encode proteins that are probably mutually exclusive in a given SWI/SNF complex. We found that ham-3 and swsn-2.2 display similar functions in vulva specification, germline development, and intestinal cell proliferation, but have distinct roles in embryonic development. Accordingly, we detected functional redundancy in some developmental processes and demonstrated by RNA sequencing of RNAi-treated L4 animals that ham-3 and swsn-2.2 regulate the expression of a common subset of genes but also have specific targets. Cell lineage analyses in the embryo revealed hyper-proliferation of intestinal cells in ham-3 null mutants whereas swsn-2.2 is required for proper cell divisions. Using a proteomic approach, we identified SWSN-2.2-interacting proteins needed for early cell divisions, such as SAO-1 and ATX-2, and also nuclear envelope proteins such as MEL-28. swsn-2.2 mutants phenocopy mel-28 loss-of-function, and we observed that SWSN-2.2 and MEL-28 colocalize in mitotic and meiotic chromosomes. Moreover, we demonstrated that SWSN-2.2 is required for correct chromosome segregation and nuclear reassembly after mitosis including recruitment of MEL-28 to the nuclear periphery., (Copyright © 2016 by the Genetics Society of America.)
- Published
- 2016
- Full Text
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43. Loss of the proteostasis factor AIRAPL causes myeloid transformation by deregulating IGF-1 signaling.
- Author
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Osorio FG, Soria-Valles C, Santiago-Fernández O, Bernal T, Mittelbrunn M, Colado E, Rodríguez F, Bonzon-Kulichenko E, Vázquez J, Porta-de-la-Riva M, Cerón J, Fueyo A, Li J, Green AR, Freije JM, and López-Otín C
- Subjects
- Adaptor Proteins, Signal Transducing, Animals, Blotting, Western, CRISPR-Cas Systems, Caenorhabditis elegans, Caenorhabditis elegans Proteins genetics, Carrier Proteins metabolism, Flow Cytometry, Fluorescent Antibody Technique, Humans, Immunoprecipitation, Mice, Mice, Knockout, Microfilament Proteins genetics, Myeloproliferative Disorders metabolism, Proteasome Endopeptidase Complex metabolism, Proteomics, Proteostasis Deficiencies, RNA-Binding Proteins metabolism, Real-Time Polymerase Chain Reaction, Receptor, Insulin genetics, Signal Transduction, Ubiquitination, Zinc Fingers genetics, Carrier Proteins genetics, Insulin-Like Growth Factor I metabolism, Myeloproliferative Disorders genetics, RNA-Binding Proteins genetics, Receptor, IGF Type 1 metabolism
- Abstract
AIRAPL (arsenite-inducible RNA-associated protein-like) is an evolutionarily conserved regulator of cellular proteostasis linked to longevity in nematodes, but its biological function in mammals is unknown. We show herein that AIRAPL-deficient mice develop a fully-penetrant myeloproliferative neoplastic process. Proteomic analysis of AIRAPL-deficient mice revealed that this protein exerts its antineoplastic function through the regulation of the insulin/insulin-like growth factor 1 (IGF-1) signaling pathway. We demonstrate that AIRAPL interacts with newly synthesized insulin-related growth factor-1 receptor (IGF1R) polypeptides, promoting their ubiquitination and proteasome-mediated degradation. Accordingly, genetic and pharmacological IGF1R inhibitory strategies prevent the hematological disease found in AIRAPL-deficient mice as well as that in mice carrying the Jak2(V617F) mutation, thereby demonstrating the causal involvement of this pathway in the pathogenesis of myeloproliferative neoplasms. Consistent with its proposed role as a tumor suppressor of myeloid transformation, AIRAPL expression is widely abrogated in human myeloproliferative disorders. Collectively, these findings support the oncogenic relevance of proteostasis deregulation in hematopoietic cells, and they unveil novel therapeutic targets for these frequent hematological neoplasias.
- Published
- 2016
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44. Modeling of autosomal-dominant retinitis pigmentosa in Caenorhabditis elegans uncovers a nexus between global impaired functioning of certain splicing factors and cell type-specific apoptosis.
- Author
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Rubio-Peña K, Fontrodona L, Aristizábal-Corrales D, Torres S, Cornes E, García-Rodríguez FJ, Serrat X, González-Knowles D, Foissac S, Porta-De-La-Riva M, and Cerón J
- Subjects
- Animals, Ataxia Telangiectasia Mutated Proteins genetics, Ataxia Telangiectasia Mutated Proteins metabolism, Caenorhabditis elegans, Caenorhabditis elegans Proteins genetics, Caenorhabditis elegans Proteins metabolism, Genes, Dominant, Organ Specificity, RNA Interference, RNA Splicing, Repressor Proteins genetics, Repressor Proteins metabolism, Retinitis Pigmentosa pathology, Ribonucleoprotein, U4-U6 Small Nuclear genetics, Ribonucleoprotein, U5 Small Nuclear genetics, Apoptosis, Retinitis Pigmentosa genetics
- Abstract
Retinitis pigmentosa (RP) is a rare genetic disease that causes gradual blindness through retinal degeneration. Intriguingly, seven of the 24 genes identified as responsible for the autosomal-dominant form (adRP) are ubiquitous spliceosome components whose impairment causes disease only in the retina. The fact that these proteins are essential in all organisms hampers genetic, genomic, and physiological studies, but we addressed these difficulties by using RNAi in Caenorhabditis elegans. Our study of worm phenotypes produced by RNAi of splicing-related adRP (s-adRP) genes functionally distinguishes between components of U4 and U5 snRNP complexes, because knockdown of U5 proteins produces a stronger phenotype. RNA-seq analyses of worms where s-adRP genes were partially inactivated by RNAi, revealed mild intron retention in developing animals but not in adults, suggesting a positive correlation between intron retention and transcriptional activity. Interestingly, RNAi of s-adRP genes produces an increase in the expression of atl-1 (homolog of human ATR), which is normally activated in response to replicative stress and certain DNA-damaging agents. The up-regulation of atl-1 correlates with the ectopic expression of the pro-apoptotic gene egl-1 and apoptosis in hypodermal cells, which produce the cuticle, but not in other cell types. Our model in C. elegans resembles s-adRP in two aspects: The phenotype caused by global knockdown of s-adRP genes is cell type-specific and associated with high transcriptional activity. Finally, along with a reduced production of mature transcripts, we propose a model in which the retina-specific cell death in s-adRP patients can be induced through genomic instability., (© 2015 Rubio-Peña et al.; Published by Cold Spring Harbor Laboratory Press for the RNA Society.)
- Published
- 2015
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45. Cytoplasmic LSM-1 protein regulates stress responses through the insulin/IGF-1 signaling pathway in Caenorhabditis elegans.
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Cornes E, Porta-De-La-Riva M, Aristizábal-Corrales D, Brokate-Llanos AM, García-Rodríguez FJ, Ertl I, Díaz M, Fontrodona L, Reis K, Johnsen R, Baillie D, Muñoz MJ, Sarov M, Dupuy D, and Cerón J
- Subjects
- Animals, Base Sequence, Caenorhabditis elegans genetics, Conserved Sequence, Forkhead Transcription Factors metabolism, Genes, Essential, Hot Temperature, Humans, Insulin metabolism, Insulin-Like Growth Factor I metabolism, Mutation, Signal Transduction, Stress, Physiological, Caenorhabditis elegans physiology, Caenorhabditis elegans Proteins genetics, Caenorhabditis elegans Proteins metabolism, Carrier Proteins genetics, Carrier Proteins metabolism, Cytoplasm metabolism, RNA-Binding Proteins genetics, RNA-Binding Proteins metabolism
- Abstract
Genes coding for members of the Sm-like (LSm) protein family are conserved through evolution from prokaryotes to humans. These proteins have been described as forming homo- or heterocomplexes implicated in a broad range of RNA-related functions. To date, the nuclear LSm2-8 and the cytoplasmic LSm1-7 heteroheptamers are the best characterized complexes in eukaryotes. Through a comprehensive functional study of the LSm family members, we found that lsm-1 and lsm-3 are not essential for C. elegans viability, but their perturbation, by RNAi or mutations, produces defects in development, reproduction, and motility. We further investigated the function of lsm-1, which encodes the distinctive protein of the cytoplasmic complex. RNA-seq analysis of lsm-1 mutants suggests that they have impaired Insulin/IGF-1 signaling (IIS), which is conserved in metazoans and involved in the response to various types of stress through the action of the FOXO transcription factor DAF-16. Further analysis using a DAF-16::GFP reporter indicated that heat stress-induced translocation of DAF-16 to the nuclei is dependent on lsm-1. Consistent with this, we observed that lsm-1 mutants display heightened sensitivity to thermal stress and starvation, while overexpression of lsm-1 has the opposite effect. We also observed that under stress, cytoplasmic LSm proteins aggregate into granules in an LSM-1-dependent manner. Moreover, we found that lsm-1 and lsm-3 are required for other processes regulated by the IIS pathway, such as aging and pathogen resistance., (© 2015 Cornes et al.; Published by Cold Spring Harbor Laboratory Press for the RNA Society.)
- Published
- 2015
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46. RSR-2, the Caenorhabditis elegans ortholog of human spliceosomal component SRm300/SRRM2, regulates development by influencing the transcriptional machinery.
- Author
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Fontrodona L, Porta-de-la-Riva M, Morán T, Niu W, Díaz M, Aristizábal-Corrales D, Villanueva A, Schwartz S Jr, Reinke V, and Cerón J
- Subjects
- Animals, Caenorhabditis elegans growth & development, Germ Cells, Humans, Phosphorylation, RNA Polymerase II, RNA Splicing genetics, RNA-Binding Proteins genetics, Sequence Homology, Amino Acid, Spliceosomes metabolism, Caenorhabditis elegans genetics, Caenorhabditis elegans Proteins genetics, Chromatin genetics, DNA-Binding Proteins genetics, Spliceosomes genetics, Transcription, Genetic
- Abstract
Protein components of the spliceosome are highly conserved in eukaryotes and can influence several steps of the gene expression process. RSR-2, the Caenorhabditis elegans ortholog of the human spliceosomal protein SRm300/SRRM2, is essential for viability, in contrast to the yeast ortholog Cwc21p. We took advantage of mutants and RNA interference (RNAi) to study rsr-2 functions in C. elegans, and through genetic epistasis analysis found that rsr-2 is within the germline sex determination pathway. Intriguingly, transcriptome analyses of rsr-2(RNAi) animals did not reveal appreciable splicing defects but instead a slight global decrease in transcript levels. We further investigated this effect in transcription and observed that RSR-2 colocalizes with DNA in germline nuclei and coprecipitates with chromatin, displaying a ChIP-Seq profile similar to that obtained for the RNA Polymerase II (RNAPII). Consistent with a novel transcription function we demonstrate that the recruitment of RSR-2 to chromatin is splicing-independent and that RSR-2 interacts with RNAPII and affects RNAPII phosphorylation states. Proteomic analyses identified proteins associated with RSR-2 that are involved in different gene expression steps, including RNA metabolism and transcription with PRP-8 and PRP-19 being the strongest interacting partners. PRP-8 is a core component of the spliceosome and PRP-19 is the core component of the PRP19 complex, which interacts with RNAPII and is necessary for full transcriptional activity. Taken together, our study proposes that RSR-2 is a multifunctional protein whose role in transcription influences C. elegans development., Competing Interests: The authors have declared that no competing interests exist.
- Published
- 2013
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47. Basic Caenorhabditis elegans methods: synchronization and observation.
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Porta-de-la-Riva M, Fontrodona L, Villanueva A, and Cerón J
- Subjects
- Animals, Caenorhabditis elegans growth & development, Caenorhabditis elegans physiology, Cytological Techniques methods
- Abstract
Research into the molecular and developmental biology of the nematode Caenorhabditis elegans was begun in the early seventies by Sydney Brenner and it has since been used extensively as a model organism. C. elegans possesses key attributes such as simplicity, transparency and short life cycle that have made it a suitable experimental system for fundamental biological studies for many years. Discoveries in this nematode have broad implications because many cellular and molecular processes that control animal development are evolutionary conserved. C. elegans life cycle goes through an embryonic stage and four larval stages before animals reach adulthood. Development can take 2 to 4 days depending on the temperature. In each of the stages several characteristic traits can be observed. The knowledge of its complete cell lineage together with the deep annotation of its genome turn this nematode into a great model in fields as diverse as the neurobiology, aging, stem cell biology and germ line biology. An additional feature that makes C. elegans an attractive model to work with is the possibility of obtaining populations of worms synchronized at a specific stage through a relatively easy protocol. The ease of maintaining and propagating this nematode added to the possibility of synchronization provide a powerful tool to obtain large amounts of worms, which can be used for a wide variety of small or high-throughput experiments such as RNAi screens, microarrays, massive sequencing, immunoblot or in situ hybridization, among others. Because of its transparency, C. elegans structures can be distinguished under the microscope using Differential Interference Contrast microscopy, also known as Nomarski microscopy. The use of a fluorescent DNA binder, DAPI (4',6-diamidino-2-phenylindole), for instance, can lead to the specific identification and localization of individual cells, as well as subcellular structures/defects associated to them.
- Published
- 2012
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48. The 14-3-3 gene par-5 is required for germline development and DNA damage response in Caenorhabditis elegans.
- Author
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Aristizábal-Corrales D, Fontrodona L, Porta-de-la-Riva M, Guerra-Moreno A, Cerón J, and Schwartz S Jr
- Subjects
- 14-3-3 Proteins genetics, Animals, Caenorhabditis elegans cytology, Cell Cycle, Germ Cells cytology, 14-3-3 Proteins metabolism, Caenorhabditis elegans genetics, Caenorhabditis elegans metabolism, DNA Damage, Germ Cells metabolism
- Abstract
14-3-3 proteins have been extensively studied in organisms ranging from yeast to mammals and are associated with multiple roles, including fundamental processes such as the cell cycle, apoptosis and the stress response, to diseases such as cancer. In Caenorhabditis elegans, there are two 14-3-3 genes, ftt-2 and par-5. ftt-2 is expressed only in somatic lineages, whereas par-5 expression is detected in both soma and germline. During early embryonic development, par-5 is necessary to establish cell polarity. Although it is known that par-5 inactivation results in sterility, the role of this gene in germline development is poorly characterized. In the present study, we used a par-5 mutation and RNA interference to characterize par-5 functions in the germline. The lack of par-5 in germ cells caused cell cycle deregulation, the accumulation of endogenous DNA damage and genomic instability. Moreover, par-5 was required for checkpoint-induced cell cycle arrest in response to DNA-damaging agents. We propose a model in which PAR-5 regulates CDK-1 phosphorylation to prevent premature mitotic entry. This study opens a new path to investigate the mechanisms of 14-3-3 functions, which are not only essential for C. elegans development, but have also been shown to be altered in human diseases.
- Published
- 2012
- Full Text
- View/download PDF
49. Effectiveness of an implementation strategy for a breastfeeding guideline in Primary Care: cluster randomised trial.
- Author
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Martín-Iglesias S, del-Cura-González I, Sanz-Cuesta T, Arana-Cañedo Argüelles C, Rumayor-Zarzuelo M, Alvarez-de la Riva M, Lloret-Sáez Bravo AM, Férnandez-Arroyo RM, Aréjula-Torres JL, Aguado-Arroyo Ó, Góngora-Maldonado F, García-Corraliza M, Sandoval-Encinas N, Tomico-delRío M, and Cornejo-Gutiérrez AM
- Subjects
- Adult, Community Health Services, Counseling, Female, Health Personnel education, Health Personnel standards, Humans, Infant, Newborn, Maternal-Child Health Centers, Models, Statistical, Mothers psychology, Mothers statistics & numerical data, Outcome Assessment, Health Care, Professional Role, Professional-Patient Relations, Socioeconomic Factors, Spain, Breast Feeding methods, Breast Feeding psychology, Breast Feeding statistics & numerical data, Guidelines as Topic standards, Health Plan Implementation, Primary Health Care organization & administration
- Abstract
Background: The protection and promotion of breastfeeding is considered a priority in Europe where only 22% of infants less than 6 months old are exclusively breastfed. In Spain this percentage reaches 24.8% but in our city it falls to 18.26%. Various studies emphasise that the improvement of these results should be based upon the training of health professionals. Following the recommendations of a breastfeeding guide can modify the practice of health professionals and improve results with respect to exclusively or predominatly breastfed children at 6 months of age., Method/design: This study involves a community based cluster randomized trial in primary healthcare centres in Leganés (Madrid, Spain). The project aims to determine whether the use of an implementation strategy (including training session, information distribution, opinion leader) of a breastfeeding guideline in primary care is more effective than usual diffusion. The number of patients required will be 240 (120 in each arm). It will be included all the mothers of infants born during the study period (6 months) who come to the health centre on the first visit of the child care programme and who give their consent to participate. The main outcome variable is the exclusive o predominant breastfeeding at 6 moths of age..Main effectiveness will be analyzed by comparing the percentage of infants with exclusive or predominant breastfeeding at 6 months between the intervention group and the control group. All statistical tests will be performed with intention to treat. Logistic regression with random effects will be used to adjust for prognostic factors. Confounding factors or factors that might alter the effect recorded will be taken into account in this analysis., Discussion: Strategies need to be found which facilitate the giving of effective advice on breastfeeding by professionals and which provide support to women during the breastfeeding period. By applying the guide's recommendations, clinical variability can be reduced and the care received by patients can be improved., Trial Registration: The trial was registered with ClinicalTrials.gov, number NCT01474096.
- Published
- 2011
- Full Text
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50. The p65 subunit of NF-κB and PARP1 assist Snail1 in activating fibronectin transcription.
- Author
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Stanisavljevic J, Porta-de-la-Riva M, Batlle R, de Herreros AG, and Baulida J
- Subjects
- Animals, Binding Sites, Cell Line, Cell Nucleus metabolism, Extracellular Matrix Proteins genetics, Fibronectins biosynthesis, Humans, Mesoderm cytology, Mice, Poly (ADP-Ribose) Polymerase-1, Promoter Regions, Genetic, Snail Family Transcription Factors, Fibronectins genetics, Poly(ADP-ribose) Polymerases metabolism, Transcription Factor RelA metabolism, Transcription Factors metabolism, Transcriptional Activation
- Abstract
Snail1 is a transcriptional repressor of E-cadherin that triggers epithelial-mesenchymal transition (EMT). Here, we report assisted Snail1 interaction with the promoter of a typical mesenchymal gene, fibronectin (FN1), both in epithelial cells undergoing EMT and in fibroblasts. Together with Snail1, the p65 subunit of NF-κB and PARP1 bound to the FN1 promoter. We detected nuclear interaction of these proteins and demonstrated the requirement of all three for FN1 transcription. Moreover, other genes involved in cell movement mimic FN1 expression induced by Snail1 or TGF-β1 treatment and recruit p65NF-κB and Snail1 to their promoters. The molecular cooperation between Snail1 and NF-κB in transcription activation provides a new insight into how Snail1 can modulate a variety of cell programs.
- Published
- 2011
- Full Text
- View/download PDF
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