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38 results on '"De la Cerda, Berta"'

1. Development of a Genotype Assay for Age-Related Macular Degeneration: The EYE-RISK Consortium

Author

Ajana, Soufiane, Cougnard-Grégoire, Audrey, Delcourt, Cécile, Merle, Bénédicte M.J., Arango-Gonzalez, Blanca, Dammeier, Sascha, Diether, Sigrid, Honisch, Sabina, Kilger, Ellen, Ueffing, Marius, Endermann, Tanja, Zumbansen, Markus, Badura, Franz, De la Cerda, Berta, Biarnés, Marc, Borrell, Anna, Ferraro, Lucia L., Garcia, Míriam, Monés, Jordi, Rodríguez, Eduardo, Colijn, Johanna M., Ikram, A., Klaver, Caroline C.W., Meester-Smoor, Magda, Verzijden, Timo, Vingerling, Johannes, den Hollander, Anneke I., Heesterbeek, Thomas J., Kersten, Eveline, de Jong, Eiko K., Acar, I. Erkin, de Breuk, Anita, Emri, Eszter, Lengyel, Imre, Langen, Hanno, Nogoceke, Everson, Peto, Tunde, Luthert, Phil, Pool, Frances M., Acar, Ilhan E., Schijvenaars, Mascha M.V.A.P., Haer-Wigman, Lonneke, Bakker, Bjorn, de Jong, Sarah, Meester-Smoor, Magda A., Missotten, Tom O.A.R., Pauleikhoff, Daniel, Hense, Hans W., Silva, Rufino, Nunes, Sandrina, Melo, Joana B., Fauser, Sascha, Hoyng, Carel B., and Coenen, Marieke J.H.

Published
2021
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2. Predicting Progression to Advanced Age-Related Macular Degeneration from Clinical, Genetic, and Lifestyle Factors Using Machine Learning

Author

Acar, Erkin I., Arango-Gonzalez, Blanca, Armento, Angela, Badura, Franz, Bhatia, Vaibhav, Bhattacharya, Shomi S., Biarnés, Marc, Borrell, Anna, Calado, Sofia M., Dammeier, Sascha, de Breuk, Anita, De la Cerda, Berta, den Hollander, Anneke I., Diaz-Corrales, Francisco J., Diether, Sigrid, Emri, Eszter, Endermann, Tanja, Ferraro, Lucia L., Garcia, Míriam, Heesterbeek, Thomas J., Honisch, Sabina, Hoyng, Carel B., Kilger, Ellen, Kortvely, Elod, Lastrucci, Claire, Langen, Hanno, Lengyel, Imre, Luthert, Phil, Monés, Jordi, Nogoceke, Everson, Peto, Tunde, Pool, Frances M., Rodriguez-Bocanegra, Eduardo, Serrano, Luis, Sousa, Jose, Thee, Eric, Ueffing, Marius, Ulrich Bartz-Schmidt, Karl U., Zumbansen, Markus, Ajana, Soufiane, Cougnard-Grégoire, Audrey, Colijn, Johanna M., Merle, Bénédicte M.J., Verzijden, Timo, de Jong, Paulus T.V.M., Hofman, Albert, Vingerling, Johannes R., Hejblum, Boris P., Korobelnik, Jean-François, Meester-Smoor, Magda A., Jacqmin-Gadda, Hélène, Klaver, Caroline C.W., and Delcourt, Cécile

Published
2021
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3. Piceid Octanoate Protects Retinal Cells against Oxidative Damage by Regulating the Sirtuin 1/Poly-ADP-Ribose Polymerase 1 Axis In Vitro and in rd10 Mice

Author

Instituto de Salud Carlos III, Junta de Andalucía, Limno Pharma, Moshtaghion, Seyed Mohamadmehdi, Caballano-Infantes, Estefanía, Plaza Reyes, Álvaro, Valdés-Sánchez, Lourdes, Fernández, Patricia Gallego, de la Cerda, Berta, Riga, Maurizio S., Álvarez-Dolado, Manuel, Peñalver, Pablo, Morales, Juan C., Díaz-Corrales, Francisco J., Instituto de Salud Carlos III, Junta de Andalucía, Limno Pharma, Moshtaghion, Seyed Mohamadmehdi, Caballano-Infantes, Estefanía, Plaza Reyes, Álvaro, Valdés-Sánchez, Lourdes, Fernández, Patricia Gallego, de la Cerda, Berta, Riga, Maurizio S., Álvarez-Dolado, Manuel, Peñalver, Pablo, Morales, Juan C., and Díaz-Corrales, Francisco J.

Abstract

Retinitis pigmentosa is a common cause of inherited blindness in adults, which in many cases is associated with an increase in the formation of reactive oxygen species (ROS) that induces DNA damage, triggering Poly-ADP-Ribose Polymerase 1 (PARP1) activation and leading to parthanatos-mediated cell death. Previous studies have shown that resveratrol (RSV) is a promising molecule that can mitigate PARP1 overactivity, but its low bioavailability is a limitation for medical use. This study examined the impact of a synthesized new acylated RSV prodrug, piceid octanoate (PIC-OCT), in the 661W cell line against H2O2 oxidative stress and in rd10 mice. PIC-OCT possesses a better ADME profile than RSV. In response to H2O2, 661W cells pretreated with PIC-OCT preserved cell viability in more than 38% of cells by significantly promoting SIRT1 nuclear translocation, preserving NAD+/NADH ratio, and suppressing intracellular ROS formation. These effects result from expressing antioxidant genes, maintaining mitochondrial function, reducing PARP1 nuclear expression, and preventing AIF nuclear translocation. In rd10 mice, PIC-OCT inhibited PAR-polymer formation, increased SIRT1 expression, significantly reduced TUNEL-positive cells in the retinal outer nuclear layer, preserved ERGs, and enhanced light chamber activity (all p values < 0.05). Our findings corroborate that PIC-OCT protects photoreceptors by modulating the SIRT1/PARP1 axis in models of retinal degeneration.

Published
2024

4. The Resveratrol Prodrug JC19 Delays Retinal Degeneration in rd10 Mice

Author

Valdés-Sánchez, Lourdes, García-Delgado, Ana B., Montero-Sánchez, Adoración, de la Cerda, Berta, Lucas, Ricardo, Peñalver, Pablo, Morales, Juan C., Bhattacharya, Shom S., Díaz-Corrales, Francisco J., Crusio, Wim E., Series Editor, Lambris, John D., Series Editor, Radeke, Heinfried H., Series Editor, Rezaei, Nima, Series Editor, Bowes Rickman, Catherine, editor, Grimm, Christian, editor, Anderson, Robert E., editor, Ash, John D., editor, LaVail, Matthew M., editor, and Hollyfield, Joe G., editor

Published
2019
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5. Piceid Octanoate Protects Retinal Cells against Oxidative Damage by Regulating the Sirtuin 1/Poly-ADP-Ribose Polymerase 1 Axis In Vitro and in rd10 Mice

Author

Moshtaghion, Seyed Mohamadmehdi, primary, Caballano-Infantes, Estefanía, additional, Plaza Reyes, Álvaro, additional, Valdés-Sánchez, Lourdes, additional, Fernández, Patricia Gallego, additional, de la Cerda, Berta, additional, Riga, Maurizio S., additional, Álvarez-Dolado, Manuel, additional, Peñalver, Pablo, additional, Morales, Juan C., additional, and Díaz-Corrales, Francisco J., additional

Published
2024
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6. Clinical‐grade hPSC‐derived RPE grafts for the treatment of age‐related macular degeneration

Author

Reyes, Alvaro Plaza, primary, Sánchez, Lourdes Valdés, additional, Mesa, Rocio, additional, Moshtaghion, Mehdi, additional, Infantes, Estefania Caballano, additional, Garcia‐Delgado, Ana Belen, additional, Arribas, Blanca, additional, Muñoz, Beatriz Fernandez, additional, Tsurkan, Mikhail, additional, Sanchez‐Pernaute, Rosario, additional, de la Cerda, Berta, additional, and Diaz‐Corrales, Francisco, additional

Published
2024
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11. Increased High-Density Lipoprotein Levels Associated with Age-Related Macular Degeneration: Evidence from the EYE-RISK and European Eye Epidemiology Consortia

Author

Acar, Niyazi, Altay, Lebriz, Anastosopoulos, Eleftherios, Azuara-Blanco, Augusto, Berendschot, Tos, Bergen, Arthur, Bertelsen, Geir, Binquet, Christine, Bird, Alan, Bobak, Martin, Larsen, Morten Bøgelund, Boon, Camiel, Bourne, Rupert, Brétillon, Lionel, Broe, Rebecca, Bron, Alain, Buitendijk, Gabrielle, Cachulo, Maria Luz, Capuano, Vittorio, Carrière, Isabelle, Chakravarthy, Usha, Chan, Michelle, Chang, Petrus, Colijn, Johanna, Cougnard-Grégoire, Audrey, Cree, Angela, Creuzot-Garcher, Catherine, Cumberland, Phillippa, Cunha-Vaz, José, Daien, Vincent, De Jong, Eiko, Deak, Gabor, Delcourt, Cécile, Delyfer, Marie-Noëlle, Hollander, Anneke den, Dietzel, Martha, Erke, Maja Gran, Faria, Pedro, Farinha, Claudia, Fauser, Sascha, Finger, Robert, Fletcher, Astrid, Foster, Paul, Founti, Panayiota, Gorgels, Theo, Grauslund, Jakob, Grus, Franz, Hammond, Christopher, Heesterbeek, Thomas, Hense, Hans-Werner, Hermann, Manuel, Hoehn, René, Hogg, Ruth, Holz, Frank, Hoyng, Carel, Jansonius, Nomdo, Janssen, Sarah, de Jong, Eiko, Khawaja, Anthony, Klaver, Caroline, Korobelnik, Jean-François, Lamparter, Julia, Le Goff, Mélanie, Lehtimäki, Terho, Leung, Irene, Lotery, Andrew, Mauschitz, Matthias, Meester, Magda, Merle, Bénédicte, Meyer zu Westrup, Verena, Midena, Edoardo, Miotto, Stefania, Mirshahi, Alireza, Mohan-Saïd, Sadek, Mueller, Michael, Muldrew, Alyson, Murta, Joaquim, Nickels, Stefan, Nunes, Sandrina, Owen, Christopher, Peto, Tunde, Pfeiffer, Norbert, Piermarocchi, Stefano, Prokofyeva, Elena, Rahi, Jugnoo, Raitakari, Olli, Rauscher, Franziska, Ribeiro, Luisa, Rougier, Marie-Bénédicte, Rudnicka, Alicja, Sahel, José, Salonikiou, Aggeliki, Sanchez, Clarisa, Schick, Tina, Schmitz-Valckenberg, Steffen, Schuster, Alexander, Schweitzer, Cédric, Segato, Tatiana, Shehata, Jasmin, Silva, Rufino, Silvestri, Giuliana, Simader, Christian, Souied, Eric, Speckauskas, Martynas, Springelkamp, Henriet, Tapp, Robyn, Topouzis, Fotis, van Leeuwen, Elisa, Verhoeven, Virginie, Verzijden, Timo, Vingerling, Hans, Von Hanno, Therese, Williams, Katie, Wolfram, Christian, Yip, Jennifer, Zerbib, Jennyfer, Ajana, Soufiane, Arango-Gonzalez, Blanca, Arndt, Verena, Bhatia, Vaibhav, Bhattacharya, Shomi S., Biarnés, Marc, Borrell, Anna, Bühren, Sebastian, Calado, Sofia M., Colijn, Johanna M., Dammeier, Sascha, de Jong, Eiko K., De la Cerda, Berta, den Hollander, Anneke I., Diaz-Corrales, Francisco J., Diether, Sigrid, Emri, Eszter, Endermann, Tanja, Ferraro, Lucia L., Garcia, Míriam, Heesterbeek, Thomas J., Honisch, Sabina, Hoyng, Carel B., Kersten, Eveline, Kilger, Ellen, Klaver, Caroline C.W., Langen, Hanno, Lengyel, Imre, Luthert, Phil, Maugeais, Cyrille, Meester-Smoor, Magda, Merle Inserm, Bénédicte M.J., Monés, Jordi, Nogoceke, Everson, Pool, Frances M., Rodríguez, Eduardo, Ueffing, Marius, Ulrich Bartz-Schmidt, Karl U., van Leeuwen, Elisabeth M., Zumbansen, Markus, Demirkan, Ayse, Meester-Smoor, Magda A., Merle, Benedicte M.J., Papageorgiou, Grigorios, Ahmad, Shahzad, Mulder, Monique T., Costa, Miguel Angelo, Benlian, Pascale, Bron, Alain M., Claes, Birte, Foster, Paul J., Hammond, Christopher J., Khawaja, Anthony P., Korobelnik, Jean-Francois, Souied, Eric H., Williams, Katie M., and van Duijn, Cornelia M.

Published
2019
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12. Mediterranean Diet and Incidence of Advanced Age-Related Macular Degeneration: The EYE-RISK Consortium

Author

Ajana, Soufiane, Arango-Gonzalez, Blanca, Armento, Angela, Arndt, Verena, Bhatia, Vaibhav, Bhattacharya, Shomi S., Biarnés, Marc, Borrell, Anna, Bühren, Sebastian, Calado, Sofia M., Colijn, Johanna M., Cougnard-Grégoire, Audrey, Dammeier, Sascha, de Jong, Eiko K., De la Cerda, Berta, Delcourt, Cécile, den Hollander, Anneke I., Diaz-Corrales, Francisco J., Diether, Sigrid, Emri, Eszter, Endermann, Tanja, Ferraro, Lucia L., Garcia, Míriam, Heesterbeek, Thomas J., Honisch, Sabina, Hoyng, Carel B., Kersten, Eveline, Kilger, Ellen, Klaver, Caroline C.W., Langen, Hanno, Lengyel, Imre, Luthert, Phil, Maugeais, Cyrille, Meester-Smoor, Magda, Merle, Bénédicte M.J., Monés, Jordi, Nogoceke, Everson, Peto, Tunde, Pool, Frances M., Rodríguez, Eduardo, Ueffing, Marius, Ulrich Bartz-Schmidt, Karl U., van Leeuwen, Elisabeth M., Verzijden, Timo, Zumbansen, Markus, Vasiliev, Vassil, de Koning-Backus, Alexandra P.M., Delyfer, Marie-Noëlle, Kiefte-de Jong, Jessica C., Féart, Catherine, Samieri, Cécilia, Franco, Oscar H., and Korobelnik, Jean-François

Published
2019
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14. Prevalence of Age-Related Macular Degeneration in Europe: The Past and the Future

Author

Ajana, Soufiane, Arango-Gonzalez, Blanca, Arndt, Verena, Bhatia, Vaibhav, Bhattacharya, Shomi S., Biarnés, Marc, Borrell, Anna, Bühren, Sebastian, Calado, Sofia M., Colijn, Johanna M., Cougnard-Grégoire, Audrey, Dammeier, Sascha, de Jong, Eiko K., De la Cerda, Berta, Delcourt, Cécile, den Hollander, Anneke I., Diaz-Corrales, Francisco J., Diether, Sigrid, Emri, Eszter, Endermann, Tanja, Ferraro, Lucia L., Garcia, Míriam, Heesterbeek, Thomas J., Honisch, Sabina, Hoyng, Carel B., Kersten, Eveline, Kilger, Ellen, Klaver, Caroline C.W., Langen, Hanno, Lengyel, Imre, Luthert, Phil, Maugeais, Cyrille, Meester-Smoor, Magda, Merle, Bénédicte M.J., Monés, Jordi, Nogoceke, Everson, Peto, Tunde, Pool, Frances M., Rodríguez, Eduardo, Ueffing, Marius, Ulrich Bartz-Schmidt, Karl U., van Leeuwen, Elisabeth M., Verzijden, Timo, Zumbansen, Markus, Acar, Niyazi, Anastosopoulos, Eleftherios, Azuara-Blanco, Augusto, Bergen, Arthur, Bertelsen, Geir, Binquet, Christine, Bird, Alan, Brétillon, Lionel, Bron, Alain, Buitendijk, Gabrielle, Cachulo, Maria Luz, Chakravarthy, Usha, Chan, Michelle, Chang, Petrus, Colijn, Johanna, Creuzot-Garcher, Catherine, Cumberland, Philippa, Cunha-Vaz, José, Daien, Vincent, Deak, Gabor, Delyfer, Marie-Noëlle, den Hollander, Anneke, Dietzel, Martha, Erke, Maja Gran, Fauser, Sascha, Finger, Robert, Fletcher, Astrid, Foster, Paul, Founti, Panayiota, Göbel, Arno, Gorgels, Theo, Grauslund, Jakob, Grus, Franz, Hammond, Christopher, Helmer, Catherine, Hense, Hans-Werner, Hermann, Manuel, Hoehn, René, Hogg, Ruth, Holz, Frank, Hoyng, Carel, Jansonius, Nomdo, Janssen, Sarah, Khawaja, Anthony, Klaver, Caroline, Korobelnik, Jean-François, Lamparter, Julia, Le Goff, Mélanie, Leal, Sergio, Lechanteur, Yara, Lehtimäki, Terho, Lotery, Andrew, Leung, Irene, Mauschitz, Matthias, Merle, Bénédicte, Meyer zu Westrup, Verena, Midena, Edoardo, Miotto, Stefania, Mirshahi, Alireza, Mohan-Saïd, Sadek, Mueller, Michael, Muldrew, Alyson, Nunes, Sandrina, Oexle, Konrad, Piermarocchi, Stefano, Prokofyeva, Elena, Rahi, Jugnoo, Raitakari, Olli, Ribeiro, Luisa, Rougier, Marie-Bénédicte, Sahel, José, Salonikiou, Aggeliki, Sanchez, Clarisa, Schmitz-Valckenberg, Steffen, Schweitzer, Cédric, Segato, Tatiana, Shehata, Jasmin, Silva, Rufino, Silvestri, Giuliana, Simader, Christian, Souied, Eric, Springelkamp, Henriet, Tapp, Robyn, Topouzis, Fotis, Verhoeven, Virginie, Von Hanno, Therese, Vujosevic, Stela, Williams, Katie, Wolfram, Christian, Yip, Jennifer, Zerbib, Jennyfer, Zwiener, Isabella, Buitendijk, Gabriëlle H.S., Alves, Dalila, Cachulo, Maria L., Khawaja, Anthony P., Cougnard-Gregoire, Audrey, Korb, Christina, Erke, Maja G., Anastasopoulos, Eleftherios, Meester-Smoor, Magda A., de Jong, Paulus T.V.M., Vingerling, Johannes R., Pfeiffer, Norbert, Fletcher, Astrid E., and Foster, Paul J.

Published
2017
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15. The Resveratrol Prodrug JC19 Delays Retinal Degeneration in rd10 Mice

Author

Valdés-Sánchez, Lourdes, primary, García-Delgado, Ana B., additional, Montero-Sánchez, Adoración, additional, de la Cerda, Berta, additional, Lucas, Ricardo, additional, Peñalver, Pablo, additional, Morales, Juan C., additional, Bhattacharya, Shom S., additional, and Díaz-Corrales, Francisco J., additional

Published
2019
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17. Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins

Author

Valdés-Sánchez, Lourdes, Calado, Sofia M., de la Cerda, Berta, Aramburu, Ana, García-Delgado, Ana Belén, Massalini, Simone, Montero-Sánchez, Adoración, Bhatia, Vaibhav, Rodríguez-Bocanegra, Eduardo, Diez-Lloret, Andrea, Rodríguez-Martínez, Daniel, Chakarova, Christina, Bhattacharya, Shom S., and Díaz-Corrales, Francisco J.

Published
2019
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18. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

Author

Panneman, Daan M., primary, Hitti-Malin, Rebekkah J., additional, Holtes, Lara K., additional, de Bruijn, Suzanne E., additional, Reurink, Janine, additional, Boonen, Erica G.M., additional, Khan, Muhammad Imran, additional, Ali, Manir, additional, Andréasson, Sten, additional, De Baere, Elfride, additional, Banfi, Sandro, additional, Bauwens, Miriam, additional, Ben-Yosef, Tamar, additional, Bocquet, Béatrice, additional, De Bruyne, Marieke, additional, de la Cerda, Berta, additional, Coppieters, Frauke, additional, Farinelli, Pietro, additional, Guignard, Thomas, additional, Inglehearn, Chris F., additional, Karali, Marianthi, additional, Kjellström, Ulrika, additional, Koenekoop, Robert, additional, de Koning, Bart, additional, Leroy, Bart P., additional, McKibbin, Martin, additional, Meunier, Isabelle, additional, Nikopoulos, Konstantinos, additional, Nishiguchi, Koji M., additional, Poulter, James A., additional, Rivolta, Carlo, additional, Rodríguez de la Rúa, Enrique, additional, Saunders, Patrick, additional, Simonelli, Francesca, additional, Tatour, Yasmin, additional, Testa, Francesco, additional, Thiadens, Alberta A.H.J., additional, Toomes, Carmel, additional, Tracewska, Anna M., additional, Viet Tran, Hoai, additional, Ushida, Hiroaki, additional, Vaclavik, Veronika, additional, Verhoeven, Virginie J.M., additional, van de Vorst, Maartje, additional, Gilissen, Christian, additional, Hoischen, Alexander, additional, Cremers, Frans P.M., additional, and Roosing, Susanne, additional

Published
2022
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20. Development of a Genotype Assay for Age-Related Macular Degeneration: The EYE-RISK Consortium

Author

de Breuk, Anita, Acar, Ilhan E., Kersten, Eveline, Schijvenaars, Mascha M.V.A.P., Colijn, Johanna M., Haer-Wigman, Lonneke, Bakker, Bjorn, de Jong, Sarah, Meester-Smoor, Magda, Verzijden, Timo, Missotten, Tom O.A.R., Monés, Jordi, Biarnés, Marc, Pauleikhoff, Daniel, Hense, Hans W., Silva, Rufino, Nunes, Sandrina, Melo, Joana B., Fauser, Sascha, Hoyng, Carel B., Ueffing, Marius, Coenen, Marieke J.H., Klaver, Caroline C.W., den Hollander, Anneke I., Ajana, Soufiane, Arango-Gonzalez, Blanca, Badura, Franz, De la Cerda, Berta, Borrell, Anna, Cougnard-Grégoire, Audrey, Dammeier, Sascha, de Jong, Eiko K., Delcourt, Cécile, Diether, Sigrid, Emri, Eszter, Endermann, Tanja, Ferraro, Lucia L., Garcia, Míriam, Heesterbeek, Thomas J., Honisch, Sabina, Ikram, A., Kilger, Ellen, Langen, Hanno, Lengyel, Imre, Luthert, Phil, Merle, Bénédicte M.J., Nogoceke, Everson, Peto, Tunde, Pool, Frances M., Rodríguez, Eduardo, Vingerling, Johannes, and Zumbansen, Markus

Subjects
genetic structures, sense organs, eye diseases
Abstract

PurposeTo develop a genotype assay to assess associations with common and rare age-related macular degeneration (AMD) risk variants, to calculate an overall genetic risk score (GRS), and to identify potential misdiagnoses with inherited macular dystrophies that mimic AMD.DesignCase-control study.ParticipantsIndividuals (n = 4740) from 5 European cohorts.MethodsWe designed single-molecule molecular inversion probes for target selection and used next generation sequencing to sequence 87 single nucleotide polymorphisms (SNPs), coding and splice-site regions of 10 AMD-(related) genes (ARMS2, C3, C9, CD46, CFB, CFH, CFI, HTRA1, TIMP3, and SLC16A8), and 3 genes that cause inherited macular dystrophies (ABCA4, CTNNA1, and PRPH2). Genetic risk scores for common AMD risk variants were calculated based on effect size and genotype of 52 AMD-associated variants. Frequency of rare variants was compared between late AMD patients and control individuals with logistic regression analysis.Main Outcome MeasuresGenetic risk score, association of genetic variants with AMD, and genotype–phenotype correlations.ResultsWe observed high concordance rates between our platform and other genotyping platforms for the 69 successfully genotyped SNPs (>96%) and for the rare variants (>99%). We observed a higher GRS for patients with late AMD compared with patients with early/intermediate AMD (P < 0.001) and individuals without AMD (P < 0.001). A higher proportion of pathogenic variants in the CFH (odds ratio [OR] = 2.88; P = 0.006), CFI (OR = 4.45; P = 0.005), and C3 (OR = 6.56; P = 0.0003) genes was observed in late AMD patients compared with control individuals. In 9 patients, we identified pathogenic variants in the PRPH2, ABCA4, and CTNNA1 genes, which allowed reclassification of these patients as having inherited macular dystrophy.ConclusionsThis study reports a genotype assay for common and rare AMD genetic variants, which can identify individuals at intermediate to high genetic risk of late AMD and enables differential diagnosis of AMD-mimicking dystrophies. Our study supports sequencing of CFH, CFI, and C3 genes because they harbor rare high-risk variants. Carriers of these variants could be amendable for new treatments for AMD that currently are under development.

Published
2021
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21. Biocompatibility Study of a Commercial Printed Circuit Board for Biomedical Applications: Lab-on-PCB for Organotypic Retina Cultures

Author

Urbano-Gámez, Jesús David, primary, Valdés-Sánchez, Lourdes, additional, Aracil, Carmen, additional, de la Cerda, Berta, additional, Perdigones, Francisco, additional, Plaza Reyes, Álvaro, additional, Díaz-Corrales, Francisco J., additional, Relimpio López, Isabel, additional, and Quero, José Manuel, additional

Published
2021
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22. Development of a Genotype Assay for Age-Related Macular Degeneration

Author

de Breuk, Anita, primary, Acar, Ilhan E., additional, Kersten, Eveline, additional, Schijvenaars, Mascha M.V.A.P., additional, Colijn, Johanna M., additional, Haer-Wigman, Lonneke, additional, Bakker, Bjorn, additional, de Jong, Sarah, additional, Meester-Smoor, Magda A., additional, Verzijden, Timo, additional, Missotten, Tom O.A.R., additional, Monés, Jordi, additional, Biarnés, Marc, additional, Pauleikhoff, Daniel, additional, Hense, Hans W., additional, Silva, Rufino, additional, Nunes, Sandrina, additional, Melo, Joana B., additional, Fauser, Sascha, additional, Hoyng, Carel B., additional, Ueffing, Marius, additional, Coenen, Marieke J.H., additional, Klaver, Caroline C.W., additional, den Hollander, Anneke I., additional, Ajana, Soufiane, additional, Cougnard-Grégoire, Audrey, additional, Delcourt, Cécile, additional, Merle, Bénédicte M.J., additional, Arango-Gonzalez, Blanca, additional, Dammeier, Sascha, additional, Diether, Sigrid, additional, Honisch, Sabina, additional, Kilger, Ellen, additional, Endermann, Tanja, additional, Zumbansen, Markus, additional, Badura, Franz, additional, De la Cerda, Berta, additional, Borrell, Anna, additional, Ferraro, Lucia L., additional, Garcia, Míriam, additional, Rodríguez, Eduardo, additional, Ikram, A., additional, Meester-Smoor, Magda, additional, Vingerling, Johannes, additional, Heesterbeek, Thomas J., additional, de Jong, Eiko K., additional, Acar, I. Erkin, additional, de Breuk, Anita, additional, Emri, Eszter, additional, Lengyel, Imre, additional, Langen, Hanno, additional, Nogoceke, Everson, additional, Peto, Tunde, additional, Luthert, Phil, additional, and Pool, Frances M., additional

Published
2021
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23. Biocompatibility Study of a Commercial Printed Circuit Board for Biomedical Applications: Lab-on-PCB for Organotypic Retina Cultures

Author

Universidad de Sevilla. Departamento de Ingeniería Electrónica, Universidad de Sevilla. TIC109: Tecnología Electrónica, European Commission (EC). Fondo Europeo de Desarrollo Regional (FEDER), Junta de Andalucía, Urbano Gámez, Jesús David, Valdés Sánchez, Lourdes, Aracil Fernández, Carmen, De la Cerda, Berta, Perdigones Sánchez, Francisco, Plaza Reyes, Álvaro, Díaz Corrales, Francisco Javier, Relimpio López, Isabel, Quero Reboul, José Manuel, Universidad de Sevilla. Departamento de Ingeniería Electrónica, Universidad de Sevilla. TIC109: Tecnología Electrónica, European Commission (EC). Fondo Europeo de Desarrollo Regional (FEDER), Junta de Andalucía, Urbano Gámez, Jesús David, Valdés Sánchez, Lourdes, Aracil Fernández, Carmen, De la Cerda, Berta, Perdigones Sánchez, Francisco, Plaza Reyes, Álvaro, Díaz Corrales, Francisco Javier, Relimpio López, Isabel, and Quero Reboul, José Manuel

Abstract

Printed circuit board (PCB) technology is well known, reliable, and low-cost, and its application to biomedicine, which implies the integration of microfluidics and electronics, has led to Lab-on-PCB. However, the biocompatibility of the involved materials has to be examined if they are in contact with biological elements. In this paper, the solder mask (PSR-2000 CD02G/CA-25 CD01, Taiyo Ink (Suzhou) Co., Ltd., Suzhou, China) of a commercial PCB has been studied for retinal cultures. For this purpose, retinal explants have been cultured over this substrate, both on open and closed systems, with successful results. Cell viability data shows that the solder mask has no cytotoxic effect on the culture allowing the application of PCB as the substrate of customized microelectrode arrays (MEAs). Finally, a comparative study of the biocompatibility of the 3D printer Uniz zSG amber resin has also been carried out.

Published
2021

26. Predicting Progression to Advanced Age-Related Macular Degeneration from Clinical, Genetic, and Lifestyle Factors Using Machine Learning

Author

Ajana, Soufiane, primary, Cougnard-Grégoire, Audrey, additional, Colijn, Johanna M., additional, Merle, Bénédicte M.J., additional, Verzijden, Timo, additional, de Jong, Paulus T.V.M., additional, Hofman, Albert, additional, Vingerling, Johannes R., additional, Hejblum, Boris P., additional, Korobelnik, Jean-François, additional, Meester-Smoor, Magda A., additional, Ueffing, Marius, additional, Jacqmin-Gadda, Hélène, additional, Klaver, Caroline C.W., additional, Delcourt, Cécile, additional, Acar, Erkin I., additional, Arango-Gonzalez, Blanca, additional, Armento, Angela, additional, Badura, Franz, additional, Bhatia, Vaibhav, additional, Bhattacharya, Shomi S., additional, Biarnés, Marc, additional, Borrell, Anna, additional, Calado, Sofia M., additional, Dammeier, Sascha, additional, de Breuk, Anita, additional, De la Cerda, Berta, additional, den Hollander, Anneke I., additional, Diaz-Corrales, Francisco J., additional, Diether, Sigrid, additional, Emri, Eszter, additional, Endermann, Tanja, additional, Ferraro, Lucia L., additional, Garcia, Míriam, additional, Heesterbeek, Thomas J., additional, Honisch, Sabina, additional, Hoyng, Carel B., additional, Kilger, Ellen, additional, Kortvely, Elod, additional, Lastrucci, Claire, additional, Langen, Hanno, additional, Lengyel, Imre, additional, Luthert, Phil, additional, Monés, Jordi, additional, Nogoceke, Everson, additional, Peto, Tunde, additional, Pool, Frances M., additional, Rodriguez-Bocanegra, Eduardo, additional, Serrano, Luis, additional, Sousa, Jose, additional, Thee, Eric, additional, Ulrich Bartz-Schmidt, Karl U., additional, and Zumbansen, Markus, additional

Published
2021
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28. Mediterranean Diet and Incidence of Advanced Age-Related Macular Degeneration: The EYE-RISK Consortium

Author

Merle, B. nédicte M. J., Colijn, Johanna M., Cougnard-Grégoire, Audrey, de Koning-Backus, Alexandra P. M., Delyfer, Marie-Noëlle, Kiefte-de Jong, Jessica C., Meester-Smoor, Magda, Féart, Catherine, Verzijden, Timo, Samieri, C. cilia, Franco, Oscar H., Korobelnik, Jean-François, Klaver, Caroline C. W., Delcourt, C. cile, Ajana, Soufiane, Arango-Gonzalez, Blanca, Armento, Angela, Arndt, Verena, Bhatia, Vaibhav, Bhattacharya, Shomi S., Biarnés, Marc, Borrell, Anna, Bühren, Sebastian, Calado, Sofia M., Dammeier, Sascha, de Jong, Eiko K., de la Cerda, Berta, den Hollander, Anneke I., Diaz-Corrales, Francisco J., Diether, Sigrid, Emri, Eszter, Endermann, Tanja, Ferraro, Lucia L., Garcia, M. riam, Heesterbeek, Thomas J., Honisch, Sabina, Hoyng, Carel B., Kersten, Eveline, Kilger, Ellen, Langen, Hanno, Lengyel, Imre, Luthert, Phil, Maugeais, Cyrille, van Leeuwen, Elisabeth M., Zumbansen, Markus, Vasiliev, Vassil, Experimental Immunology, and AII - Inflammatory diseases

Abstract

Purpose: To investigate associations of adherence to the Mediterranean diet (MeDi) with incidence of advanced age-related macular degeneration (AMD; the symptomatic form of AMD) in 2 European population-based prospective cohorts. Design: Prospective cohort study of the Rotterdam Study I (RS-I) and the Antioxydants, Lipides Essentiels, Nutrition et Maladies Oculaires (Alienor) Study populations. Participants: Four thousand four hundred forty-six participants 55 years of age or older from the RS-I (The Netherlands) and 550 French adults 73 years of age or older from the Alienor Study with complete ophthalmologic and dietary data were included in the present study. Methods: Examinations were performed approximately every 5 years over a 21-year period (1990–2011) in RS-I and every 2 years over a 4-year period (2006–2012) in the Alienor Study. Adherence to the MeDi was evaluated using a 9-component score based on intake of vegetables, fruits, legumes, cereals, fish, meat, dairy products, alcohol, and the monounsaturated-to-saturated fatty acids ratio. Associations of incidence of AMD with MeDi were estimated using multivariate Cox proportional hazard models. Main Outcomes Measures: Incidence of advanced AMD based on retinal fundus photographs. Results: Among the 4996 included participants, 155 demonstrated advanced incident AMD (117 from the RS-I and 38 from the Alienor Study). The mean follow-up time was 9.9 years (range, 0.6–21.7 years) in the RS-I and 4.1 years (range, 2.5–5.0 years) in the Alienor Study. Pooling data for both the RS-I and Alienor Study, participants with a high (range, 6–9) MeDi score showed a significantly reduced risk for incident advanced AMD compared with participants with a low (range, 0–3) MeDi score in the fully adjusted Cox model (hazard ratio, 0.59; 95% confidence interval, 0.37–0.95; P = 0.04 for trend). Conclusions: Pooling data from the RS-I and Alienor Study, higher adherence to the MeDi was associated with a 41% reduced risk of incident advanced AMD. These findings support the role of a diet rich in healthful nutrient-rich foods such as fruits, vegetables, legumes, and fish in the prevention of AMD.

Published
2019

29. Metabolomics in serum of patients with non-advanced age-related macular degeneration reveals aberrations in the glutamine pathway

Author

Kersten, Eveline, Dammeier, Sascha, Ajana, Soufiane, Groenewoud, Joannes M.M., Codrea, Marius, Klose, Franziska, Lechanteur, Yara T., Fauser, Sascha, Ueffing, Marius, Delcourt, Cécile, Hoyng, Carel B., de Jong, Eiko, Den Hollander, Anneke I., Arango-Gonzalez, Blanca, Arndt, Verena, Bhatia, Vaibhav, Bhatta-Charya, Shomi S., Biarnés, Marc, Borrell, Anna, Bühren, Sebastian, Calado, Sofia M., Colijn, Johanna M., Cougnard-Grégoire, Audrey, De la Cerda, Berta, Del-Court, Cécile, Diaz-Corrales, F. J., Diether, Sigrid, Emri, Eszter, Ender-Mann, Tanja, Ferraro, Lucia, Garcia, Míriam, Heesterbeek, Thomas J., Honisch, Sabina, Iacone, Roberto, Kilger, Ellen, Klaver, Caroline C.W., Langen, Hanno, Lengyel, Imre, Luthert, Phil, Maugeais, Cyrille, Meester-Smoor, Magda, Merle, Benedicte, Monés, Jordi, Nogoceke, Everson, Peto, Tunde, Pool, Fran, Rodríguez, Eduardo, Bartz-Schmidt, Karl Ulrich, Verzijden, Timo, Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Ophthalmology, and Epidemiology

Subjects
0301 basic medicine, genetic structures, Metabolite, Glutamine, Stress-related disorders Donders Center for Medical Neuroscience [Radboudumc 13], Disease, Bioinformatics, Biochemistry, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], chemistry.chemical_compound, Macular Degeneration, 0302 clinical medicine, Medicine and Health Sciences, Metabolites, Geriatric Ophthalmology, Amino Acids, Multidisciplinary, Agricultural and Biological Sciences(all), Organic Compounds, Retinal Degeneration, Acidic Amino Acids, Discriminant Analysis, Neurochemistry, Neurotransmitters, Middle Aged, 3. Good health, Chemistry, Physical Sciences, Biomarker (medicine), Medicine, Retinal Disorders, Female, Metabolic Pathways, Glutamate, Metabolic Networks and Pathways, Research Article, Science, 03 medical and health sciences, Metabolomics, Age related, medicine, Humans, Least-Squares Analysis, General, Nutrition, Aged, Glutaminolysis, business.industry, Biochemistry, Genetics and Molecular Biology(all), Organic Chemistry, Chemical Compounds, Biology and Life Sciences, Proteins, Macular degeneration, medicine.disease, eye diseases, Diet, Ophthalmology, 030104 developmental biology, Metabolism, chemistry, Geriatrics, Macular Disorders, 030221 ophthalmology & optometry, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, sense organs, business, Biomarkers, Neuroscience
Abstract

Contains fulltext : 205500.pdf (Publisher’s version ) (Open Access) Age-related macular degeneration (AMD) is a common, progressive multifactorial vision-threatening disease and many genetic and environmental risk factors have been identified. The risk of AMD is influenced by lifestyle and diet, which may be reflected by an altered metabolic profile. Therefore, measurements of metabolites could identify biomarkers for AMD, and could aid in identifying high-risk individuals. Hypothesis-free technologies such as metabolomics have a great potential to uncover biomarkers or pathways that contribute to disease pathophysiology. To date, only a limited number of metabolomic studies have been performed in AMD. Here, we aim to contribute to the discovery of novel biomarkers and metabolic pathways for AMD using a targeted metabolomics approach of 188 metabolites. This study focuses on non-advanced AMD, since there is a need for biomarkers for the early stages of disease before severe visual loss has occurred. Targeted metabolomics was performed in 72 patients with early or intermediate AMD and 72 control individuals, and metabolites predictive for AMD were identified by a sparse partial least squares discriminant analysis. In our cohort, we identified four metabolite variables that were most predictive for early and intermediate stages of AMD. Increased glutamine and phosphatidylcholine diacyl C28:1 levels were detected in non-advanced AMD cases compared to controls, while the rate of glutaminolysis and the glutamine to glutamate ratio were reduced in non-advanced AMD. The association of glutamine with non-advanced AMD corroborates a recent report demonstrating an elevated glutamine level in early AMD using a different metabolomics technique. In conclusion, this study indicates that metabolomics is a suitable method for the discovery of biomarker candidates for AMD. In the future, larger metabolomics studies could add to the discovery of novel biomarkers in yet unknown AMD pathways and expand our insights in AMD pathophysiology.

Published
2019
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30. Increased High-Density Lipoprotein Levels Associated with Age-Related Macular Degeneration Evidence from the EYE-RISK and European Eye Epidemiology Consortia

Author

Colijn, Johanna M., den Hollander, Anneke, I, Demirkan, Ayse, Cougnard-Gregoire, Audrey, Verzijden, Timo, Kersten, Eveline, Meester-Smoor, Magda A., Merle, Benedicte M. J., Papageorgiou, Grigorios, Ahmad, Shahzad, Mulder, Monique T., Costa, Miguel Angelo, Benlian, Pascale, Bertelsen, Geir, Bron, Alain M., Claes, Birte, Creuzot-Garcher, Catherine, Erke, Maja Gran, Fauser, Sascha, Foster, Paul J., Hammond, Christopher J., Hense, Hans-Werner, Hoyng, Carel B., Khawaja, Anthony P., Korobelnik, Jean-Francois, Piermarocchi, Stefano, Segato, Tatiana, Silva, Rufino, Souied, Eric H., Williams, Katie M., van Duijn, Cornelia M., Delcourt, Cecile, Klaver, Caroline C. W., Acar, Niyazi, Altay, Lebriz, Anastosopoulos, Eleftherios, Azuara-Blanco, Augusto, Berendschot, Tos, Bergen, Arthur, Binquet, Christine, Bird, Alan, Bobak, Martin, Larsen, Morten Bogelund, Boon, Camiel, Bourne, Rupert, Bretillon, Lionel, Broe, Rebecca, Bron, Alain, Buitendijk, Gabrielle, Cachulo, Maria Luz, Capuano, Vittorio, Carriere, Isabelle, Chakravarthy, Usha, Chan, Michelle, Chang, Petrus, Colijn, Johanna, Cree, Angela, Cumberland, Phillippa, Cunha-Vaz, Jose, Daien, Vincent, De Jong, Eiko, Deak, Gabor, Delyfer, Marie-Noelle, den Hollander, Anneke, Dietzel, Martha, Faria, Pedro, Farinha, Claudia, Finger, Robert, Fletcher, Astrid, Foster, Paul, Founti, Panayiota, Gorgels, Theo, Grauslund, Jakob, Grus, Franz, Hammond, Christopher, Heesterbeek, Thomas, Hermann, Manuel, Hoehn, Rene, Hogg, Ruth, Holz, Frank, Hoyng, Carel, Jansonius, Nomdo, Janssen, Sarah, de Jonga, Eiko, Khawaja, Anthony, Klaver, Caroline, Lamparter, Julia, Le Goff, Melanie, Lehtimaki, Terho, Leung, Irene, Lotery, Andrew, Mauschitz, Matthias, Meester, Magda, Merle, Benedicte, Westrup, Verena Meyer Zu, Midena, Edoardo, Miotto, Stefania, Mirshahi, Alireza, Mohan-Said, Sadek, Mueller, Michael, Muldrew, Alyson, Murta, Joaquim, Nickels, Stefan, Nunes, Sandrina, Owen, Christopher, Peto, Tunde, Pfeiffer, Norbert, Prokofyeva, Elena, Rahi, Jugnoo, Raitakari, Olli, Rauscher, Franziska, Ribeiro, Luisa, Rougier, Marie-Benedicte, Rudnicka, Alicja, Sahel, Jose, Salonikiou, Aggeliki, Sanchez, Clarisa, Schick, Tina, Schmitz-Valckenberg, Steffen, Schuster, Alexander, Schweitzer, Cedric, Shehata, Jasmin, Silvestri, Giuliana, Simader, Christian, Souied, Eric, Speckauskas, Martynas, Springelkamp, Henriet, Tapp, Robyn, Topouzis, Fotis, van Leeuwen, Elisa, Verhoeven, Virginie, Vingerling, Hans, Von Hanno, Therese, Williams, Katie, Wolfram, Christian, Yip, Jennifer, Zerbib, Jennyfer, Ajana, Soufiane, Arango-Gonzalez, Blanca, Arndt, Verena, Bhatia, Vaibhav, Bhattacharya, Shomi S., Biarnes, Marc, Borrell, Anna, Buehren, Sebastian, Calado, Sofia M., Dammeier, Sascha, de Jong, Eiko K., De la Cerda, Berta, Diaz-Corrales, Francisco J., Diether, Sigrid, Emri, Eszter, Endermann, Tanja, Ferraro, Lucia L., Garcia, Miriam, Heesterbeek, Thomas J., Honisch, Sabina, Kilger, Ellen, Langen, Hanno, Lengyel, Imre, Luthert, Phil, Maugeais, Cyrille, Meester-Smoor, Magda, Inserm, Benedicte M. J. Merle, Mones, Jordi, Nogoceke, Everson, Pool, Frances M., Rodriguez, Eduardo, Ueffing, Marius, Bartz-Schmidt, Karl U. Ulrich, van Leeuwen, Elisabeth M., Zumbansen, Markus, Colijn, Johanna M., den Hollander, Anneke, I, Demirkan, Ayse, Cougnard-Gregoire, Audrey, Verzijden, Timo, Kersten, Eveline, Meester-Smoor, Magda A., Merle, Benedicte M. J., Papageorgiou, Grigorios, Ahmad, Shahzad, Mulder, Monique T., Costa, Miguel Angelo, Benlian, Pascale, Bertelsen, Geir, Bron, Alain M., Claes, Birte, Creuzot-Garcher, Catherine, Erke, Maja Gran, Fauser, Sascha, Foster, Paul J., Hammond, Christopher J., Hense, Hans-Werner, Hoyng, Carel B., Khawaja, Anthony P., Korobelnik, Jean-Francois, Piermarocchi, Stefano, Segato, Tatiana, Silva, Rufino, Souied, Eric H., Williams, Katie M., van Duijn, Cornelia M., Delcourt, Cecile, Klaver, Caroline C. W., Acar, Niyazi, Altay, Lebriz, Anastosopoulos, Eleftherios, Azuara-Blanco, Augusto, Berendschot, Tos, Bergen, Arthur, Binquet, Christine, Bird, Alan, Bobak, Martin, Larsen, Morten Bogelund, Boon, Camiel, Bourne, Rupert, Bretillon, Lionel, Broe, Rebecca, Bron, Alain, Buitendijk, Gabrielle, Cachulo, Maria Luz, Capuano, Vittorio, Carriere, Isabelle, Chakravarthy, Usha, Chan, Michelle, Chang, Petrus, Colijn, Johanna, Cree, Angela, Cumberland, Phillippa, Cunha-Vaz, Jose, Daien, Vincent, De Jong, Eiko, Deak, Gabor, Delyfer, Marie-Noelle, den Hollander, Anneke, Dietzel, Martha, Faria, Pedro, Farinha, Claudia, Finger, Robert, Fletcher, Astrid, Foster, Paul, Founti, Panayiota, Gorgels, Theo, Grauslund, Jakob, Grus, Franz, Hammond, Christopher, Heesterbeek, Thomas, Hermann, Manuel, Hoehn, Rene, Hogg, Ruth, Holz, Frank, Hoyng, Carel, Jansonius, Nomdo, Janssen, Sarah, de Jonga, Eiko, Khawaja, Anthony, Klaver, Caroline, Lamparter, Julia, Le Goff, Melanie, Lehtimaki, Terho, Leung, Irene, Lotery, Andrew, Mauschitz, Matthias, Meester, Magda, Merle, Benedicte, Westrup, Verena Meyer Zu, Midena, Edoardo, Miotto, Stefania, Mirshahi, Alireza, Mohan-Said, Sadek, Mueller, Michael, Muldrew, Alyson, Murta, Joaquim, Nickels, Stefan, Nunes, Sandrina, Owen, Christopher, Peto, Tunde, Pfeiffer, Norbert, Prokofyeva, Elena, Rahi, Jugnoo, Raitakari, Olli, Rauscher, Franziska, Ribeiro, Luisa, Rougier, Marie-Benedicte, Rudnicka, Alicja, Sahel, Jose, Salonikiou, Aggeliki, Sanchez, Clarisa, Schick, Tina, Schmitz-Valckenberg, Steffen, Schuster, Alexander, Schweitzer, Cedric, Shehata, Jasmin, Silvestri, Giuliana, Simader, Christian, Souied, Eric, Speckauskas, Martynas, Springelkamp, Henriet, Tapp, Robyn, Topouzis, Fotis, van Leeuwen, Elisa, Verhoeven, Virginie, Vingerling, Hans, Von Hanno, Therese, Williams, Katie, Wolfram, Christian, Yip, Jennifer, Zerbib, Jennyfer, Ajana, Soufiane, Arango-Gonzalez, Blanca, Arndt, Verena, Bhatia, Vaibhav, Bhattacharya, Shomi S., Biarnes, Marc, Borrell, Anna, Buehren, Sebastian, Calado, Sofia M., Dammeier, Sascha, de Jong, Eiko K., De la Cerda, Berta, Diaz-Corrales, Francisco J., Diether, Sigrid, Emri, Eszter, Endermann, Tanja, Ferraro, Lucia L., Garcia, Miriam, Heesterbeek, Thomas J., Honisch, Sabina, Kilger, Ellen, Langen, Hanno, Lengyel, Imre, Luthert, Phil, Maugeais, Cyrille, Meester-Smoor, Magda, Inserm, Benedicte M. J. Merle, Mones, Jordi, Nogoceke, Everson, Pool, Frances M., Rodriguez, Eduardo, Ueffing, Marius, Bartz-Schmidt, Karl U. Ulrich, van Leeuwen, Elisabeth M., and Zumbansen, Markus

Abstract

Purpose: Genetic and epidemiologic studies have shown that lipid genes and high-density lipoproteins (HDLs) are implicated in age-related macular degeneration (AMD). We studied circulating lipid levels in relationship to AMD in a large European dataset. Design: Pooled analysis of cross-sectional data. Participants: Individuals (N = 30 953) aged 50 years or older participating in the European Eye Epidemiology (E3) consortium and 1530 individuals from the Rotterdam Study with lipid subfraction data. Methods: AMD features were graded on fundus photographs using the Rotterdam classification. Routine blood lipid measurements, genetics, medication, and potential confounders were extracted from the E3 database. In a subgroup of the Rotterdam Study, lipid subfractions were identified by the Nightingale biomarker platform. Random-intercepts mixed-effects models incorporating confounders and study site as a random effect were used to estimate associations. Main Outcome Measures: AMD features and stage; lipid measurements. Results: HDL was associated with an increased risk of AMD (odds ratio [OR], 1.21 per 1-mmol/l increase; 95% confidence interval [CI], 1.14-1.29), whereas triglycerides were associated with a decreased risk (OR, 0.94 per 1-mmol/l increase; 95% CI, 0.91-0.97). Both were associated with drusen size. Higher HDL raised the odds of larger drusen, whereas higher triglycerides decreases the odds. LDL cholesterol reached statistical significance only in the association with early AMD (P = 0.045). Regarding lipid subfractions, the concentration of extra-large HDL particles showed the most prominent association with AMD (OR, 1.24; 95% CI, 1.10-1.40). The cholesteryl ester transfer protein risk variant (rs17231506) for AMD was in line with increased HDL levels (P = 7.7 x 10(-7)), but lipase C risk variants (rs2043085, rs2070895) were associated in an opposite way (P = 1.0 x 10(-6) and P = 1.6 x 10(-4)). Conclusions: Our study suggested that HDL cholesterol is associated

Published
2019

31. Generation of a human iPS cell line (CABi003-A) from a patient with age-related macular degeneration carrying the CFH Y402H polymorphism

Author

Universidad de Sevilla. Departamento de Farmacia y Tecnología Farmacéutica, Universidad de Sevilla. Departamento de Cirugía, Instituto de Salud Carlos III (ISCIII). España, European Commission (EC). Fondo Europeo de Desarrollo Regional (FEDER), García Delgado, Ana Belén, Calado, Sofía M., Valdés Sánchez, Lourdes, Montero Sánchez, Adoración, Ponte-Zuñiga, Beatriz, De la Cerda, Berta, Bhattacharya, Shom Shanker, Díaz Corrales, Francisco Javier, Universidad de Sevilla. Departamento de Farmacia y Tecnología Farmacéutica, Universidad de Sevilla. Departamento de Cirugía, Instituto de Salud Carlos III (ISCIII). España, European Commission (EC). Fondo Europeo de Desarrollo Regional (FEDER), García Delgado, Ana Belén, Calado, Sofía M., Valdés Sánchez, Lourdes, Montero Sánchez, Adoración, Ponte-Zuñiga, Beatriz, De la Cerda, Berta, Bhattacharya, Shom Shanker, and Díaz Corrales, Francisco Javier

Abstract

Age-related macular degeneration (AMD) is the leading cause of adult blindness in developed countries and is characterized by progressive degeneration of the macula, the central region of the retina. A human induced pluripotent stem cell (hiPSC) line was derived from peripheral blood mononuclear cells (PBMCs) from a patient with a clinical diagnosis of dry AMD carrying the CFH Y402H polymorphism. Sendai virus was using for reprogramming and the pluripotent and differ- entiation capacity of the cells were assessed by immunocytochemistry and RT-PCR.

Published
2019

33. Subretinal Transplant of Induced Pluripotent Stem Cell-Derived Retinal Pigment Epithelium on Nanostructured Fibrin-Agarose

Author

García Delgado, Ana B., primary, de la Cerda, Berta, additional, Alba Amador, Julia, additional, Valdés Sánchez, Maria Lourdes, additional, Fernández-Muñoz, Beatriz, additional, Relimpio López, Isabel, additional, Rodríguez de la Rúa, Enrique, additional, Díez Lloret, Andrea, additional, Calado, Sofia M., additional, Sánchez Pernaute, Rosario, additional, Bhattacharya, Shom S., additional, and Díaz Corrales, Francisco J., additional

Published
2019
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34. Generation and characterization of the human iPSC line CABi001-A from a patient with retinitis pigmentosa caused by a novel mutation in PRPF31 gene

Author

de la Cerda, Berta, primary, Díez-Lloret, Andrea, additional, Ponte, Beatriz, additional, Vallés-Saiz, Laura, additional, Calado, Sofia M., additional, Rodríguez-Bocanegra, Eduardo, additional, Garcia-Delgado, Ana B., additional, Moya-Molina, Marina, additional, Bhattacharya, Shom S., additional, and Díaz-Corrales, Francisco J., additional

Published
2019
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35. Increased High-Density Lipoprotein Levels Associated with Age-Related Macular Degeneration

Author

Colijn, Johanna M., primary, den Hollander, Anneke I., additional, Demirkan, Ayse, additional, Cougnard-Grégoire, Audrey, additional, Verzijden, Timo, additional, Kersten, Eveline, additional, Meester-Smoor, Magda A., additional, Merle, Benedicte M.J., additional, Papageorgiou, Grigorios, additional, Ahmad, Shahzad, additional, Mulder, Monique T., additional, Costa, Miguel Angelo, additional, Benlian, Pascale, additional, Bertelsen, Geir, additional, Bron, Alain M., additional, Claes, Birte, additional, Creuzot-Garcher, Catherine, additional, Erke, Maja Gran, additional, Fauser, Sascha, additional, Foster, Paul J., additional, Hammond, Christopher J., additional, Hense, Hans-Werner, additional, Hoyng, Carel B., additional, Khawaja, Anthony P., additional, Korobelnik, Jean-Francois, additional, Piermarocchi, Stefano, additional, Segato, Tatiana, additional, Silva, Rufino, additional, Souied, Eric H., additional, Williams, Katie M., additional, van Duijn, Cornelia M., additional, Delcourt, Cécile, additional, Klaver, Caroline C.W., additional, Acar, Niyazi, additional, Altay, Lebriz, additional, Anastosopoulos, Eleftherios, additional, Azuara-Blanco, Augusto, additional, Berendschot, Tos, additional, Bergen, Arthur, additional, Binquet, Christine, additional, Bird, Alan, additional, Bobak, Martin, additional, Larsen, Morten Bøgelund, additional, Boon, Camiel, additional, Bourne, Rupert, additional, Brétillon, Lionel, additional, Broe, Rebecca, additional, Bron, Alain, additional, Buitendijk, Gabrielle, additional, Cachulo, Maria Luz, additional, Capuano, Vittorio, additional, Carrière, Isabelle, additional, Chakravarthy, Usha, additional, Chan, Michelle, additional, Chang, Petrus, additional, Colijn, Johanna, additional, Cree, Angela, additional, Cumberland, Phillippa, additional, Cunha-Vaz, José, additional, Daien, Vincent, additional, De Jong, Eiko, additional, Deak, Gabor, additional, Delyfer, Marie-Noëlle, additional, Hollander, Anneke den, additional, Dietzel, Martha, additional, Faria, Pedro, additional, Farinha, Claudia, additional, Finger, Robert, additional, Fletcher, Astrid, additional, Foster, Paul, additional, Founti, Panayiota, additional, Gorgels, Theo, additional, Grauslund, Jakob, additional, Grus, Franz, additional, Hammond, Christopher, additional, Heesterbeek, Thomas, additional, Hermann, Manuel, additional, Hoehn, René, additional, Hogg, Ruth, additional, Holz, Frank, additional, Hoyng, Carel, additional, Jansonius, Nomdo, additional, Janssen, Sarah, additional, de Jong, Eiko, additional, Khawaja, Anthony, additional, Klaver, Caroline, additional, Korobelnik, Jean-François, additional, Lamparter, Julia, additional, Le Goff, Mélanie, additional, Lehtimäki, Terho, additional, Leung, Irene, additional, Lotery, Andrew, additional, Mauschitz, Matthias, additional, Meester, Magda, additional, Merle, Bénédicte, additional, Meyer zu Westrup, Verena, additional, Midena, Edoardo, additional, Miotto, Stefania, additional, Mirshahi, Alireza, additional, Mohan-Saïd, Sadek, additional, Mueller, Michael, additional, Muldrew, Alyson, additional, Murta, Joaquim, additional, Nickels, Stefan, additional, Nunes, Sandrina, additional, Owen, Christopher, additional, Peto, Tunde, additional, Pfeiffer, Norbert, additional, Prokofyeva, Elena, additional, Rahi, Jugnoo, additional, Raitakari, Olli, additional, Rauscher, Franziska, additional, Ribeiro, Luisa, additional, Rougier, Marie-Bénédicte, additional, Rudnicka, Alicja, additional, Sahel, José, additional, Salonikiou, Aggeliki, additional, Sanchez, Clarisa, additional, Schick, Tina, additional, Schmitz-Valckenberg, Steffen, additional, Schuster, Alexander, additional, Schweitzer, Cédric, additional, Shehata, Jasmin, additional, Silvestri, Giuliana, additional, Simader, Christian, additional, Souied, Eric, additional, Speckauskas, Martynas, additional, Springelkamp, Henriet, additional, Tapp, Robyn, additional, Topouzis, Fotis, additional, van Leeuwen, Elisa, additional, Verhoeven, Virginie, additional, Vingerling, Hans, additional, Von Hanno, Therese, additional, Williams, Katie, additional, Wolfram, Christian, additional, Yip, Jennifer, additional, Zerbib, Jennyfer, additional, Ajana, Soufiane, additional, Arango-Gonzalez, Blanca, additional, Arndt, Verena, additional, Bhatia, Vaibhav, additional, Bhattacharya, Shomi S., additional, Biarnés, Marc, additional, Borrell, Anna, additional, Bühren, Sebastian, additional, Calado, Sofia M., additional, Colijn, Johanna M., additional, Dammeier, Sascha, additional, de Jong, Eiko K., additional, De la Cerda, Berta, additional, Diaz-Corrales, Francisco J., additional, Diether, Sigrid, additional, Emri, Eszter, additional, Endermann, Tanja, additional, Ferraro, Lucia L., additional, Garcia, Míriam, additional, Heesterbeek, Thomas J., additional, Honisch, Sabina, additional, Kilger, Ellen, additional, Langen, Hanno, additional, Lengyel, Imre, additional, Luthert, Phil, additional, Maugeais, Cyrille, additional, Meester-Smoor, Magda, additional, Merle Inserm, Bénédicte M.J., additional, Monés, Jordi, additional, Nogoceke, Everson, additional, Pool, Frances M., additional, Rodríguez, Eduardo, additional, Ueffing, Marius, additional, Ulrich Bartz-Schmidt, Karl U., additional, van Leeuwen, Elisabeth M., additional, and Zumbansen, Markus, additional

Published
2019
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37. Prevalence of Age-Related Macular Degeneration in Europe

Author

Colijn, Johanna M., primary, Buitendijk, Gabriëlle H.S., additional, Prokofyeva, Elena, additional, Alves, Dalila, additional, Cachulo, Maria L., additional, Khawaja, Anthony P., additional, Cougnard-Gregoire, Audrey, additional, Merle, Bénédicte M.J., additional, Korb, Christina, additional, Erke, Maja G., additional, Bron, Alain, additional, Anastasopoulos, Eleftherios, additional, Meester-Smoor, Magda A., additional, Segato, Tatiana, additional, Piermarocchi, Stefano, additional, de Jong, Paulus T.V.M., additional, Vingerling, Johannes R., additional, Topouzis, Fotis, additional, Creuzot-Garcher, Catherine, additional, Bertelsen, Geir, additional, Pfeiffer, Norbert, additional, Fletcher, Astrid E., additional, Foster, Paul J., additional, Silva, Rufino, additional, Korobelnik, Jean-François, additional, Delcourt, Cécile, additional, Klaver, Caroline C.W., additional, Ajana, Soufiane, additional, Arango-Gonzalez, Blanca, additional, Arndt, Verena, additional, Bhatia, Vaibhav, additional, Bhattacharya, Shomi S., additional, Biarnés, Marc, additional, Borrell, Anna, additional, Bühren, Sebastian, additional, Calado, Sofia M., additional, Colijn, Johanna M., additional, Cougnard-Grégoire, Audrey, additional, Dammeier, Sascha, additional, de Jong, Eiko K., additional, De la Cerda, Berta, additional, den Hollander, Anneke I., additional, Diaz-Corrales, Francisco J., additional, Diether, Sigrid, additional, Emri, Eszter, additional, Endermann, Tanja, additional, Ferraro, Lucia L., additional, Garcia, Míriam, additional, Heesterbeek, Thomas J., additional, Honisch, Sabina, additional, Hoyng, Carel B., additional, Kersten, Eveline, additional, Kilger, Ellen, additional, Langen, Hanno, additional, Lengyel, Imre, additional, Luthert, Phil, additional, Maugeais, Cyrille, additional, Meester-Smoor, Magda, additional, Monés, Jordi, additional, Nogoceke, Everson, additional, Peto, Tunde, additional, Pool, Frances M., additional, Rodríguez, Eduardo, additional, Ueffing, Marius, additional, Ulrich Bartz-Schmidt, Karl U., additional, van Leeuwen, Elisabeth M., additional, Verzijden, Timo, additional, Zumbansen, Markus, additional, Acar, Niyazi, additional, Anastosopoulos, Eleftherios, additional, Azuara-Blanco, Augusto, additional, Bergen, Arthur, additional, Binquet, Christine, additional, Bird, Alan, additional, Brétillon, Lionel, additional, Buitendijk, Gabrielle, additional, Cachulo, Maria Luz, additional, Chakravarthy, Usha, additional, Chan, Michelle, additional, Chang, Petrus, additional, Colijn, Johanna, additional, Cumberland, Philippa, additional, Cunha-Vaz, José, additional, Daien, Vincent, additional, Deak, Gabor, additional, Delyfer, Marie-Noëlle, additional, den Hollander, Anneke, additional, Dietzel, Martha, additional, Erke, Maja Gran, additional, Fauser, Sascha, additional, Finger, Robert, additional, Fletcher, Astrid, additional, Foster, Paul, additional, Founti, Panayiota, additional, Göbel, Arno, additional, Gorgels, Theo, additional, Grauslund, Jakob, additional, Grus, Franz, additional, Hammond, Christopher, additional, Helmer, Catherine, additional, Hense, Hans-Werner, additional, Hermann, Manuel, additional, Hoehn, René, additional, Hogg, Ruth, additional, Holz, Frank, additional, Hoyng, Carel, additional, Jansonius, Nomdo, additional, Janssen, Sarah, additional, Khawaja, Anthony, additional, Klaver, Caroline, additional, Lamparter, Julia, additional, Le Goff, Mélanie, additional, Leal, Sergio, additional, Lechanteur, Yara, additional, Lehtimäki, Terho, additional, Lotery, Andrew, additional, Leung, Irene, additional, Mauschitz, Matthias, additional, Merle, Bénédicte, additional, Meyer zu Westrup, Verena, additional, Midena, Edoardo, additional, Miotto, Stefania, additional, Mirshahi, Alireza, additional, Mohan-Saïd, Sadek, additional, Mueller, Michael, additional, Muldrew, Alyson, additional, Nunes, Sandrina, additional, Oexle, Konrad, additional, Rahi, Jugnoo, additional, Raitakari, Olli, additional, Ribeiro, Luisa, additional, Rougier, Marie-Bénédicte, additional, Sahel, José, additional, Salonikiou, Aggeliki, additional, Sanchez, Clarisa, additional, Schmitz-Valckenberg, Steffen, additional, Schweitzer, Cédric, additional, Shehata, Jasmin, additional, Silvestri, Giuliana, additional, Simader, Christian, additional, Souied, Eric, additional, Springelkamp, Henriet, additional, Tapp, Robyn, additional, Verhoeven, Virginie, additional, Von Hanno, Therese, additional, Vujosevic, Stela, additional, Williams, Katie, additional, Wolfram, Christian, additional, Yip, Jennifer, additional, Zerbib, Jennyfer, additional, and Zwiener, Isabella, additional

Published
2017
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38. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Author

Panneman DM, Hitti-Malin RJ, Holtes LK, de Bruijn SE, Reurink J, Boonen EGM, Khan MI, Ali M, Andréasson S, De Baere E, Banfi S, Bauwens M, Ben-Yosef T, Bocquet B, De Bruyne M, de la Cerda B, Coppieters F, Farinelli P, Guignard T, Inglehearn CF, Karali M, Kjellström U, Koenekoop R, de Koning B, Leroy BP, McKibbin M, Meunier I, Nikopoulos K, Nishiguchi KM, Poulter JA, Rivolta C, Rodríguez de la Rúa E, Saunders P, Simonelli F, Tatour Y, Testa F, Thiadens AAHJ, Toomes C, Tracewska AM, Tran HV, Ushida H, Vaclavik V, Verhoeven VJM, van de Vorst M, Gilissen C, Hoischen A, Cremers FPM, and Roosing S

Abstract

Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs is challenging since >280 genes are associated with these conditions. While whole exome sequencing (WES) is commonly used by diagnostic facilities, the costs and required infrastructure prevent its global applicability. Previous studies have shown the cost-effectiveness of sequence analysis using single molecule Molecular Inversion Probes (smMIPs) in a cohort of patients diagnosed with Stargardt disease and other maculopathies. Methods: Here, we introduce a smMIPs panel that targets the exons and splice sites of all currently known genes associated with RP and LCA, the entire RPE65 gene, known causative deep-intronic variants leading to pseudo-exons, and part of the RP17 region associated with autosomal dominant RP, by using a total of 16,812 smMIPs. The RP-LCA smMIPs panel was used to screen 1,192 probands from an international cohort of predominantly RP and LCA cases. Results and discussion: After genetic analysis, a diagnostic yield of 56% was obtained which is on par with results from WES analysis. The effectiveness and the reduced costs compared to WES renders the RP-LCA smMIPs panel a competitive approach to provide IRD patients with a genetic diagnosis, especially in countries with restricted access to genetic testing., Competing Interests: PS is an employee of Molecular Loop Biosciences Inc. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Panneman, Hitti-Malin, Holtes, de Bruijn, Reurink, Boonen, Khan, Ali, Andréasson, De Baere, Banfi, Bauwens, Ben-Yosef, Bocquet, De Bruyne, Cerda, Coppieters, Farinelli, Guignard, Inglehearn, Karali, Kjellström, Koenekoop, de Koning, Leroy, McKibbin, Meunier, Nikopoulos, Nishiguchi, Poulter, Rivolta, Rodríguez de la Rúa, Saunders, Simonelli, Tatour, Testa, Thiadens, Toomes, Tracewska, Tran, Ushida, Vaclavik, Verhoeven, van de Vorst, Gilissen, Hoischen, Cremers and Roosing.)

Published
2023
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