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1. Reduced progression of bone erosion in cytomegalovirus seropositive rheumatoid arthritis patients

Author

B. Rauwel, Y. Degboé, D. Nigon, J.-F. Boyer, F. Abravanel, J. Izopet, B. Combe, A. Ruyssen-Witrand, A. Constantin, A. Cantagrel, and J.-L. Davignon

Subjects
Human cytomegalovirus, Rheumatoid arthritis, Bone erosion, Inflammation, ESPOIR cohort, Diseases of the musculoskeletal system, RC925-935
Abstract

Abstract Background Human cytomegalovirus (HCMV) seropositivity has been associated with higher inflammation during rheumatoid arthritis (RA). However, no data are available on the impact of HCMV seropositivity on bone erosion progression during RA. Methods We selected 487 individuals of ESPOIR cohort who fulfilled the 2010 ACR/EULAR criteria for RA. HCMV serology for these patients was determined using Architect CMV IgG assay. Baseline and 1-year central X-ray reading using modified Total Sharp Score (mTSS), Erosion Sharp Score, and joint space narrowing Sharp score were used to quantify structural damage progression. We performed univariate and multivariate analyses to investigate the association between HCMV status and bone erosion progression. Results We analyzed 273 HCMV seropositive (HCMV+) and 214 HCMV seronegative (HCMV−) RA patients. At inclusion, HCMV+ patients were less frequently ACPA+ (49.8% versus 58.9%, p 1 point) was lower in HCMV+ patients (16.1% versus 25.2%, p = 0.0128) in comparison with HCMV−. HCMV+ status remained independently associated with lower bone erosion progression in multivariate analysis. Conclusions Our findings suggest that, independently of other confounding factors, HCMV seropositivity is associated with a lower progression of bone erosion during RA.

Published
2020
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2. Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech

Author

Clothilde Ormieres, Marion Lesieur-Sebellin, Karine Siquier-Pernet, Geoffroy Delplancq, Marlene Rio, Mélanie Parisot, Patrick Nitschké, Cristina Rodriguez-Fontenla, Alison Bodineau, Lucie Narcy, Emilie Schlumberger, Vincent Cantagrel, and Valérie Malan

Subjects
Developmental language disorder, Neurodevelopmental disorders, Intellectual disability, Autism, ZNF292, 16p11.2 locus, Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Background Developmental language disorder (DLD) refers to children who present with language difficulties that are not due to a known biomedical condition or associated with autism spectrum disorder (ASD) or intellectual disability (ID). The clinical heterogeneity of language disorders, the frequent presence of comorbidities, and the inconsistent terminology used over the years have impeded both research and clinical practice. Identifying sub-groups of children (i.e. DLD cases without childhood apraxia of speech (CAS)) with language difficulties is essential for elucidating the underlying genetic causes of this condition. DLD presents along a spectrum of severity, ranging from mild speech delays to profound disturbances in oral language structure in otherwise typically intelligent children. The prevalence of DLD is ~ 7-8% or 2% if severe forms are considered. This study aims to investigate a homogeneous cohort of DLD patients, excluding cases of ASD, ID or CAS, using multiple genomic approaches to better define the molecular basis of the disorder. Methods Fifteen families, including 27 children with severe DLD, were enrolled. The majority of cases (n = 24) were included in multiplex families while three cases were sporadic. This resulted in a cohort of 59 individuals for whom chromosomal microarray analysis and exome or genome sequencing were performed. Results We identified copy number variants (CNVs) predisposing to neurodevelopmental disorders with incomplete penetrance and variable expressivity in two families. These CNVs (i.e., 15q13.3 deletion and proximal 16p11.2 duplication) are interpreted as pathogenic. In one sporadic case, a de novo pathogenic variant in the ZNF292 gene, known to be associated with ID, was detected, broadening the spectrum of this syndrome. Limitations The strict diagnostic criteria applied by our multidisciplinary team, including speech-language physicians, neuropsychologists, and paediatric neurologists, resulted in a relatively small sample size, which limit the strength of our findings. Conclusion These findings highlight a common genetic architecture between DLD, ASD and ID, and underline the need for further investigation into overlapping neurodevelopmental pathways. Trial registration ClinicalTrials.gov Identifier: NCT06660108.

Published
2025
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3. The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND

Author

Qebibo, Leila, Davakan, Amaël, Nesson-Dauphin, Mathilde, Boulali, Najlae, Siquier-Pernet, Karine, Afenjar, Alexandra, Amiel, Jeanne, Bartholdi, Deborah, Barth, Magalie, Blondiaux, Eléonore, Cristian, Ingrid, Frazier, Zoe, Goldenberg, Alice, Good, Jean-Marc, Salussolia, Catherine Lourdes, Sahin, Mustafa, McCullagh, Helen, McDonald, Kimberly, McRae, Anne, Morrison, Jennifer, Pinner, Jason, Shinawi, Marwan, Toutain, Annick, Vyhnálková, Emílie, Wheeler, Patricia G., Wilnai, Yael, Hausman-Kedem, Moran, Coolen, Marion, Cantagrel, Vincent, Burglen, Lydie, and Lory, Philippe

Published
2025
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5. A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis

Author

Wilson, Matthew P., Kentache, Takfarinas, Althoff, Charlotte R., Schulz, Céline, de Bettignies, Geoffroy, Mateu Cabrera, Gisèle, Cimbalistiene, Loreta, Burnyte, Birute, Yoon, Grace, Costain, Gregory, Vuillaumier-Barrot, Sandrine, Cheillan, David, Rymen, Daisy, Rychtarova, Lucie, Hansikova, Hana, Bury, Marina, Dewulf, Joseph P., Caligiore, Francesco, Jaeken, Jaak, Cantagrel, Vincent, Van Schaftingen, Emile, Matthijs, Gert, Foulquier, François, and Bommer, Guido T.

Published
2024
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6. Mobile Health App and Web Platform (eDOL) for Medical Follow-Up of Patients With Chronic Pain: Cohort Study Involving the French eDOL National Cohort After 1 Year

Author

Noémie Delage, Nathalie Cantagrel, Sandrine Soriot-Thomas, Marie Frost, Rodrigue Deleens, Patrick Ginies, Alain Eschalier, Alice Corteval, Alicia Laveyssière, Jules Phalip, Célian Bertin, Bruno Pereira, Chouki Chenaf, Bastien Doreau, Nicolas Authier, and Nicolas Kerckhove

Subjects
Information technology, T58.5-58.64, Public aspects of medicine, RA1-1270
Abstract

BackgroundChronic pain affects approximately 30% of the general population, severely degrades quality of life and professional life, and leads to additional health care costs. Moreover, the medical follow-up of patients with chronic pain remains complex and provides only fragmentary data on painful daily experiences. This situation makes the management of patients with chronic pain less than optimal and may partly explain the lack of effectiveness of current therapies. Real-life monitoring of subjective and objective markers of chronic pain using mobile health (mHealth) programs could better characterize patients, chronic pain, pain medications, and daily impact to help medical management. ObjectiveThis cohort study aimed to assess the ability of our mHealth tool (eDOL) to collect extensive real-life medical data from chronic pain patients after 1 year of use. The data collected in this way would provide new epidemiological and pathophysiological data on chronic pain. MethodsA French national cohort of patients with chronic pain treated at 18 pain clinics has been established and followed up using mHealth tools. This cohort makes it possible to collect the determinants and repercussions of chronic pain and their evolutions in a real-life context, taking into account all environmental events likely to influence chronic pain. The patients were asked to complete several questionnaires, body schemes, and weekly meters, and were able to interact with a chatbot and use educational modules on chronic pain. Physicians could monitor their patients’ progress in real time via an online platform. ResultsThe cohort study included 1427 patients and analyzed 1178 patients. The eDOL tool was able to collect various sociodemographic data; specific data for characterizing pain disorders, including body scheme; data on comorbidities related to chronic pain and its psychological and overall impact on patients’ quality of life; data on drug and nondrug therapeutics and their benefit-to-risk ratio; and medical or treatment history. Among the patients completing weekly meters, 49.4% (497/1007) continued to complete them after 3 months of follow-up, and the proportion stabilized at 39.3% (108/275) after 12 months of follow-up. Overall, despite a fairly high attrition rate over the follow-up period, the eDOL tool collected extensive data. This amount of data will increase over time and provide a significant volume of health data of interest for future research involving the epidemiology, care pathways, trajectories, medical management, sociodemographic characteristics, and other aspects of patients with chronic pain. ConclusionsThis work demonstrates that the mHealth tool eDOL is able to generate a considerable volume of data concerning the determinants and repercussions of chronic pain and their evolutions in a real-life context. The eDOL tool can incorporate numerous parameters to ensure the detailed characterization of patients with chronic pain for future research and pain management. Trial RegistrationClinicalTrials.gov NCT04880096; https://clinicaltrials.gov/ct2/show/NCT04880096

Published
2024
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7. De novo variants in DENND5B cause a neurodevelopmental disorder

Author

Acosta, Maria T., Adams, David R., Alvarez, Raquel L., Alvey, Justin, Allworth, Aimee, Andrews, Ashley, Ashley, Euan A., Afzali, Ben, Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Briere, Lauren C., Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, HsiaoTuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cope, Heidi, Corona, Rosario, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Delgado, Margaret, Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Fu, Jiayu, Gahl, William A., Glass, Ian, Goddard, Page C., Godfrey, Rena A., Grajewski, Alana, Gropman, Andrea, Halley, Meghan C., Hamid, Rizwan, Hanchard, Neal, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yan, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Kaitryn, Emerald, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, AudreyStephannie, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Might, Matthew, Miller, Danny, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Morimoto, Marie, Mulvihill, John J., Nakano-Okuno, Mariko, Nelson, Stanley F., Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Papp, Jeanette C., Parker, Neil H., Petcharet, Leoyklang, Phillips, John A., III, Posey, Jennifer E., Potocki, Lorraine, Swerdzewski, Barbara N. Pusey, Quinlan, Aaron, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenthal, Elizabeth, Rossignol, Francis, Ruzhnikov, Maura, Sabaii, Marla, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Seto, Elaine, Sharma, Prashant, Shashi, Vandana, Shelkowitz, Emily, Sheppeard, Sam, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stergachis, Andrew, Stoler, Joan M., Sullivan, Kathleen, Sullivan, Jennifer A., Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tarakad, Arjun, Taylor, Herman, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Weisz Hubshman, Monika, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Yamamoto, Shinya, Zhang, Zhe, Zuchner, Stephan, Scala, Marcello, Tomati, Valeria, Ferla, Matteo, Lena, Mariateresa, Cohen, Julie S., Fatemi, Ali, Brokamp, Elly, Koziura, Mary E., Nicouleau, Michael, Rio, Marlene, Siquier, Karine, Boddaert, Nathalie, Musante, Ilaria, Tamburro, Serena, Baldassari, Simona, Iacomino, Michele, Scudieri, Paolo, Bellus, Gary, Reed, Sara, Al Saif, Hind, Russo, Rossana Sanchez, Walsh, Matthew B., Cantagrel, Vincent, Crunk, Amy, Gustincich, Stefano, Ruggiero, Sarah M., Fitzgerald, Mark P., Helbig, Ingo, Striano, Pasquale, Severino, Mariasavina, Salpietro, Vincenzo, Pedemonte, Nicoletta, and Zara, Federico

Published
2024
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10. Identification of Resistance QTLs to Black Leaf Streak Disease (Due to Pseudocercospora fijiensis) in Diploid Bananas (Musa acuminata)

Author

Françoise Carreel, Guillaume Martin, Sébastien Ravel, Véronique Roussel, Christine Pages, Rémy Habas, Théo Cantagrel, Chantal Guiougou, Jean-Marie Delos, Catherine Hervouet, Pierre Mournet, Angélique D’Hont, Nabila Yahiaoui, and Frédéric Salmon

Subjects
banana, Black Leaf Streak Disease, black sigatoka, Musa, Pseudocercospora fijiensis, QTL, Plant culture, SB1-1110
Abstract

Black Leaf Streak Disease (BLSD), caused by the fungus Pseudocercospora fijiensis, is a recent pandemic and the most economically and environmentally important leaf disease of banana. To assist breeding of varieties with durable resistance to the rapidly evolving P. fijiensis, we used a diploid genitor ‘IDN 110’ with partial resistance to BLSD to search for QTLs. We assessed diploid progeny of 73 hybrids between ‘IDN 110’ and the diploid cultivar ‘Khai Nai On’, which is susceptible to BLSD. Hybrids were phenotyped with artificial inoculation under controlled conditions. This method allowed us to focus on resistance in the early stages of the interaction already identified as strongly influencing BLSD epidemiology. Progeny were genotyped by sequencing. As both parents are heterozygous for large reciprocal translocations, the distribution of recombination was assessed and revealed regions with low recombination rates. Fourteen non-overlapping QTLs of resistance to BLSD were identified of which four main QTLs from the ‘IDN110‘ parent, located on chromosomes 06, 07, 08, and 09, were shown to be of interest for marker-assisted selection. Genes that underline those four QTLs are discussed in the light of previous literature.

Published
2024
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11. Liste des auteurs

Author

Rémi, Achin, primary, Isabelle, Adenot, additional, Pierre, Albaladejo, additional, Benoît, Allenet, additional, Rémi, Alvo, additional, Xavier, Armoiry, additional, Gilles, Aulagner, additional, Astrid, Bacle, additional, Jean-Didier, Bardet, additional, Isabelle, Barthelemy, additional, Magalie, Baudrant, additional, Pierrick, Bedouch, additional, Pierre-Yves, Benhamou, additional, Lise, Bernard, additional, Adrien, Biard, additional, Véra, Boïko-Alaux, additional, Morgane, Bonnet, additional, Laurent, Bourguignon, additional, Anne, Boyer, additional, Fabien, Boyer, additional, Cyril, Breuker, additional, Delphine, Cabelguenne, additional, Silvia, Calvino-Gunther, additional, Nathalie, Cantagrel, additional, Aude, Capelle, additional, Pierre, Cassier, additional, Laura, Cavazzi, additional, Stephan, Chabardes, additional, Pierre-Yves, Chambrin, additional, Sébastien, Chanoine, additional, Claire, Chapuis, additional, Virginie, Chasseigne, additional, Antoine, Chastang, additional, Philip, Chennell, additional, Jérôme, Chevalier, additional, Olivier, Claris, additional, Corinne, Collignon, additional, Rémy, Collomp, additional, Vincent, Crenn, additional, Assia, Daikh, additional, Aurélien, Descazeaud, additional, Antoine, Dupuis, additional, Audrey, Enguix, additional, Philippe, Fagnoni, additional, Sylvain, Fowo, additional, Yves, François, additional, Claire, Gaillard, additional, Blandine, Gastine, additional, Stéphanie, Genay, additional, Lucie, Germon, additional, Jean-Claude, Ghislain, additional, Dominique, Goeury, additional, Sylvain, Goutelle, additional, Laurent, Gremillard, additional, Emmanuel, Guérot, additional, Catherine, Guimier-Pingault, additional, El-Mahdi, Hafiani, additional, Daniel, Hartmann, additional, Stéphane, Honoré, additional, François, Huon Jean, additional, Jeremy, Jost, additional, Anne, Kerhoas, additional, Laurent, Kodjikian, additional, Clément, Lahaye, additional, Yoann, Le Basle, additional, Martine, Le Verger, additional, Aurélie, Lenglet, additional, Vincent, Letoublon, additional, Olivier, Loria, additional, Simon, Mandaroux, additional, Nicolas, Martelli, additional, Thibaud, Mathis, additional, Elma, Mati, additional, Céline, Mongaret, additional, Alexandre, Moreau-Gaudry, additional, Thomas, Mouyen, additional, Nadia, Naour, additional, Jean-François, Obadia, additional, Xavier, Ohl, additional, Frédérique, Perlier, additional, Quentin, Perrier, additional, Marie, Perrinet, additional, Judith, Pineau, additional, Vincent, Piriou, additional, Fabrice, Pirot, additional, Hélène, Pluchart, additional, Laurent, Poincloux, additional, Mattéo, Pozzi, additional, Voa, Ratsimbazafy, additional, Fabienne, Reymond, additional, Élise, Rochais, additional, Charlotte, Rouzaud-Laborde, additional, Damien, Royané, additional, Christel, Saint-Raymond, additional, Brigitte, Sallerin, additional, Cordélia, Salomez-Ihl, additional, Valérie, Sautou, additional, Julie, Scholler, additional, Marie, Selvy, additional, Nicolas, Serandour, additional, Carole, Serrano, additional, Jean-Christophe, Sol, additional, Géraud, Souteyrand, additional, Damien, Talon, additional, Hélène, Thiel, additional, Delphine, Tixier, additional, Lionel, Tortolano, additional, Corinne, Treillard, additional, Cécile, Vigneau, additional, and Élise, Wieliczko-Duparc, additional

Published
2023
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13. Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech.

Author

Ormieres, Clothilde, Lesieur-Sebellin, Marion, Siquier-Pernet, Karine, Delplancq, Geoffroy, Rio, Marlene, Parisot, Mélanie, Nitschké, Patrick, Rodriguez-Fontenla, Cristina, Bodineau, Alison, Narcy, Lucie, Schlumberger, Emilie, Cantagrel, Vincent, and Malan, Valérie

Subjects
MEDICAL sciences, CHILDREN with intellectual disabilities, LANGUAGE disorders, AUTISM spectrum disorders, DNA copy number variations, CHILDREN with autism spectrum disorders, CHILDREN with developmental disabilities
Abstract

Background: Developmental language disorder (DLD) refers to children who present with language difficulties that are not due to a known biomedical condition or associated with autism spectrum disorder (ASD) or intellectual disability (ID). The clinical heterogeneity of language disorders, the frequent presence of comorbidities, and the inconsistent terminology used over the years have impeded both research and clinical practice. Identifying sub-groups of children (i.e. DLD cases without childhood apraxia of speech (CAS)) with language difficulties is essential for elucidating the underlying genetic causes of this condition. DLD presents along a spectrum of severity, ranging from mild speech delays to profound disturbances in oral language structure in otherwise typically intelligent children. The prevalence of DLD is ~ 7-8% or 2% if severe forms are considered. This study aims to investigate a homogeneous cohort of DLD patients, excluding cases of ASD, ID or CAS, using multiple genomic approaches to better define the molecular basis of the disorder. Methods: Fifteen families, including 27 children with severe DLD, were enrolled. The majority of cases (n = 24) were included in multiplex families while three cases were sporadic. This resulted in a cohort of 59 individuals for whom chromosomal microarray analysis and exome or genome sequencing were performed. Results: We identified copy number variants (CNVs) predisposing to neurodevelopmental disorders with incomplete penetrance and variable expressivity in two families. These CNVs (i.e., 15q13.3 deletion and proximal 16p11.2 duplication) are interpreted as pathogenic. In one sporadic case, a de novo pathogenic variant in the ZNF292 gene, known to be associated with ID, was detected, broadening the spectrum of this syndrome. Limitations: The strict diagnostic criteria applied by our multidisciplinary team, including speech-language physicians, neuropsychologists, and paediatric neurologists, resulted in a relatively small sample size, which limit the strength of our findings. Conclusion: These findings highlight a common genetic architecture between DLD, ASD and ID, and underline the need for further investigation into overlapping neurodevelopmental pathways. Trial registration: ClinicalTrials.gov Identifier: NCT06660108. [ABSTRACT FROM AUTHOR]

Published
2025
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14. Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation

Author

Coolen, Marion, Altin, Nami, Rajamani, Karthyayani, Pereira, Eva, Siquier-Pernet, Karine, Puig Lombardi, Emilia, Moreno, Nadjeda, Barcia, Giulia, Yvert, Marianne, Laquerrière, Annie, Pouliet, Aurore, Nitschké, Patrick, Boddaert, Nathalie, Rausell, Antonio, Razavi, Féréchté, Afenjar, Alexandra, Billette de Villemeur, Thierry, Al-Maawali, Almundher, Al-Thihli, Khalid, Baptista, Julia, Beleza-Meireles, Ana, Garel, Catherine, Legendre, Marine, Gelot, Antoinette, Burglen, Lydie, Moutton, Sébastien, and Cantagrel, Vincent

Published
2022
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16. Genotype–phenotype correlations in individuals with pathogenic RERE variants

Author

Jordan, Valerie K, Fregeau, Brieana, Ge, Xiaoyan, Giordano, Jessica, Wapner, Ronald J, Balci, Tugce B, Carter, Melissa T, Bernat, John A, Moccia, Amanda N, Srivastava, Anshika, Martin, Donna M, Bielas, Stephanie L, Pappas, John, Svoboda, Melissa D, Rio, Marlène, Boddaert, Nathalie, Cantagrel, Vincent, Lewis, Andrea M, Scaglia, Fernando, Network, Undiagnosed Diseases, Kohler, Jennefer N, Bernstein, Jonathan A, Dries, Annika M, Rosenfeld, Jill A, DeFilippo, Colette, Thorson, Willa, Yang, Yaping, Sherr, Elliott H, Bi, Weimin, and Scott, Daryl A

Subjects
Congenital Structural Anomalies, Genetics, Genetic Testing, Rare Diseases, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Carrier Proteins, Child, Preschool, Fatal Outcome, Female, Genetic Association Studies, Humans, Infant, Male, Mutation, Young Adult, 1p36 deletion syndrome, CHARGE syndrome, CHD7, genotype-phenotype correlations, NEDBEH, RERE, Undiagnosed Diseases Network, Clinical Sciences, Genetics & Heredity
Abstract

Heterozygous variants in the arginine-glutamic acid dipeptide repeats gene (RERE) have been shown to cause neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH). Here, we report nine individuals with NEDBEH who carry partial deletions or deleterious sequence variants in RERE. These variants were found to be de novo in all cases in which parental samples were available. An analysis of data from individuals with NEDBEH suggests that point mutations affecting the Atrophin-1 domain of RERE are associated with an increased risk of structural eye defects, congenital heart defects, renal anomalies, and sensorineural hearing loss when compared with loss-of-function variants that are likely to lead to haploinsufficiency. A high percentage of RERE pathogenic variants affect a histidine-rich region in the Atrophin-1 domain. We have also identified a recurrent two-amino-acid duplication in this region that is associated with the development of a CHARGE syndrome-like phenotype. We conclude that mutations affecting RERE result in a spectrum of clinical phenotypes. Genotype-phenotype correlations exist and can be used to guide medical decision making. Consideration should also be given to screening for RERE variants in individuals who fulfill diagnostic criteria for CHARGE syndrome but do not carry pathogenic variants in CHD7.

Published
2018

18. Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders

Author

Duval, Romain, Nicolas, Gaël, Willemetz, Alexandra, Murakami, Yoshiko, Mikdar, Mahmoud, Vrignaud, Cedric, Megahed, Hisham, Cartron, Jean-Pierre, Masson, Cecile, Wehbi, Samer, Koehl, Bérengere, Hully, Marie, Siquier, Karine, Chemlay, Nicole, Rotig, Agnes, Lyonnet, Stanislas, Colin, Yves, Barcia, Giulia, Cantagrel, Vincent, Le Van Kim, Caroline, Hermine, Olivier, Kinoshita, Taroh, Peyrard, Thierry, and Azouzi, Slim

Published
2021
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21. Prise en charge des patients atteints de maladies rhumatismales pendant la pandémie de COVID-19 : la Société française de rhumatologie répond aux questions fréquentes posées jusqu’en mai 2020

Author

Richez, Christophe, Flipo, René-Marc, Berenbaum, Francis, Cantagrel, Alain, Claudepierre, Pascal, Debiais, Françoise, Dieudé, Philippe, Goupille, Philippe, Roux, Christian, Schaeverbeke, Thierry, Wendling, Daniel, Pham, Thao, and Thomas, Thierry

Published
2021
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22. Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Author

Sukhleen Kour, Deepa S. Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong-Hee Chae, Murim Choi, Karine Siquier, Vincent Cantagrel, Jeanne Amiel, Elliot S. Stolerman, Sarah S. Barnett, Margot A. Cousin, Diana Castro, Kimberly McDonald, Brian Kirmse, Andrea H. Nemeth, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, Isabelle Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja K. Selmer, Roser Urreizti, Alberto Garcia-Oguiza, Andrés Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah R. McCurry, John E. Landers, Sameer Agnihotri, E. Corina Andriescu, Shade B. Moody, Chanika Phornphutkul, Maria J. Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik-Schöneborn, Tim M. Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G. Bönnemann, Matias Wagner, Mahmoud Y. Issa, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Joseph G. Gleeson, Maha S. Zaki, Jan Senderek, and Udai Bhan Pandey

Subjects
Science
Abstract

GEMIN5, an RNA-binding protein, is required for formation of small nuclear ribonucleoproteins. Here, the authors identify loss of function mutations in GEMIN5 that are associated with a human neurodevelopmental disorder.

Published
2021
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24. Identification of Resistance QTLs to Black Leaf Streak Disease (Due to Pseudocercospora fijiensis) in Diploid Bananas (Musa acuminata)

Author

Carreel, Françoise, primary, Martin, Guillaume, additional, Ravel, Sébastien, additional, Roussel, Véronique, additional, Pages, Christine, additional, Habas, Rémy, additional, Cantagrel, Théo, additional, Guiougou, Chantal, additional, Delos, Jean-Marie, additional, Hervouet, Catherine, additional, Mournet, Pierre, additional, D’Hont, Angélique, additional, Yahiaoui, Nabila, additional, and Salmon, Frédéric, additional

Published
2024
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28. Cytomegalovirus infection: friend or foe in rheumatoid arthritis?

Author

Jean-Luc Davignon, Bernard Combe, and Alain Cantagrel

Subjects
Rheumatoid arthritis, Cytomegalovirus, Bone erosion, Inflammation, QKI5, Osteoclast, Diseases of the musculoskeletal system, RC925-935
Abstract

Abstract Human cytomegalovirus (HCMV) is a β-herpesvirus that causes inflammation and remains for life in a latent state in their host. HCMV has been at the center of many hypotheses regarding RA. We have recently shown that HCMV infection impairs bone erosion through the induction of the mRNA-binding protein QKI5. Latently infected RA patients display a slower progression of bone erosion in patients from a national cohort. Our observations question the possible association between HCMV and the pathophysiology of RA. In this review, we examine the possibility that HCMV may be an aggravating factor of inflammation in RA while protecting from bone erosion. We also assess its relationship with other pathogens such as bacteria causing periodontitis and responsible for ACPA production. This review thus considers whether HCMV can be regarded as a friend or a foe in the pathogenesis and the course of RA.

Published
2021
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29. MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

Author

Ekin Ucuncu, Karthyayani Rajamani, Miranda S. C. Wilson, Daniel Medina-Cano, Nami Altin, Pierre David, Giulia Barcia, Nathalie Lefort, Céline Banal, Marie-Thérèse Vasilache-Dangles, Gaële Pitelet, Elsa Lorino, Nathalie Rabasse, Eric Bieth, Maha S. Zaki, Meral Topcu, Fatma Mujgan Sonmez, Damir Musaev, Valentina Stanley, Christine Bole-Feysot, Patrick Nitschké, Arnold Munnich, Nadia Bahi-Buisson, Catherine Fossoud, Fabienne Giuliano, Laurence Colleaux, Lydie Burglen, Joseph G. Gleeson, Nathalie Boddaert, Adolfo Saiardi, and Vincent Cantagrel

Subjects
Science
Abstract

Tight regulation of inositol polyphosphate metabolism is essential for proper cell physiology. Here, the authors describe an early-onset neurodegenerative syndrome caused by loss-of-function mutations in the MINPP1 gene, characterised by intracellular imbalance of inositol polyphosphate metabolism.

Published
2020
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31. Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

Author

Barbosa, Sónia, Greville-Heygate, Stephanie, Bonnet, Maxime, Godwin, Annie, Fagotto-Kaufmann, Christine, Kajava, Andrey V., Laouteouet, Damien, Mawby, Rebecca, Wai, Htoo Aung, Dingemans, Alexander J.M., Hehir-Kwa, Jayne, Willems, Marjorlaine, Capri, Yline, Mehta, Sarju G., Cox, Helen, Goudie, David, Vansenne, Fleur, Turnpenny, Peter, Vincent, Marie, Cogné, Benjamin, Lesca, Gaëtan, Hertecant, Jozef, Rodriguez, Diana, Keren, Boris, Burglen, Lydie, Gérard, Marion, Putoux, Audrey, Cantagrel, Vincent, Siquier-Pernet, Karine, Rio, Marlene, Banka, Siddharth, Sarkar, Ajoy, Steeves, Marcie, Parker, Michael, Clement, Emma, Moutton, Sébastien, Tran Mau-Them, Frédéric, Piton, Amélie, de Vries, Bert B.A., Guille, Matthew, Debant, Anne, Schmidt, Susanne, and Baralle, Diana

Published
2020
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33. Identification of Resistance QTLs to Black Leaf Streak Disease (Due to Pseudocercospora fijiensis) in Diploid Bananas (Musa acuminata)

Author

Carreel, Françoise, Martin, Guillaume, Ravel, Sébastien, Roussel, Véronique, Pagès, Christine, Habas, Rémy, Cantagrel, Théo, Guiougou, Chantal, Delos, Jean-Marie Eric, Hervouet, Catherine, Mournet, Pierre, D'Hont, Angélique, Yahiaoui, Nabila, Salmon, Frédéric, Carreel, Françoise, Martin, Guillaume, Ravel, Sébastien, Roussel, Véronique, Pagès, Christine, Habas, Rémy, Cantagrel, Théo, Guiougou, Chantal, Delos, Jean-Marie Eric, Hervouet, Catherine, Mournet, Pierre, D'Hont, Angélique, Yahiaoui, Nabila, and Salmon, Frédéric

Abstract

Black Leaf Streak Disease (BLSD), caused by the fungus Pseudocercospora fijiensis, is a recent pandemic and the most economically and environmentally important leaf disease of banana. To assist breeding of varieties with durable resistance to the rapidly evolving P. fijiensis, we used a diploid genitor 'IDN 110' with partial resistance to BLSD to search for QTLs. We assessed diploid progeny of 73 hybrids between 'IDN 110' and the diploid cultivar 'Khai Nai On', which is susceptible to BLSD. Hybrids were phenotyped with artificial inoculation under controlled conditions. This method allowed us to focus on resistance in the early stages of the interaction already identified as strongly influencing BLSD epidemiology. Progeny were genotyped by sequencing. As both parents are heterozygous for large reciprocal translocations, the distribution of recombination was assessed and revealed regions with low recombination rates. Fourteen non-overlapping QTLs of resistance to BLSD were identified of which four main QTLs from the 'IDN110' parent, located on chromosomes 06, 07, 08, and 09, were shown to be of interest for marker-assisted selection. Genes that underline those four QTLs are discussed in the light of previous literature.

Published
2024

34. Cronología y evolución del edificio Cañadas, Tenerife, islas Canarias

Author

Huertas Coronel, María José, Ancochea Soto, Eumenio, Arnaud, N., Cantagrel, J. M., Fuster Casas, José María, Huertas Coronel, María José, Ancochea Soto, Eumenio, Arnaud, N., Cantagrel, J. M., and Fuster Casas, José María

Abstract

La utilización sistemática, por primera vez en Tenerife, de edades radiométricas 40Ar/39Ar, junto con la realización de nuevos estudios sobre el terreno, permiten identificar y situar temporalmente las principales unidades vulcanológicas que constituyen el Edificio Cañadas y definir las sucesivas fases de construcción y destrucción que le han afectado y que han generado la presente morfología de la depresión de Las Cañadas. La primera fase, Cañadas I, (>3,5-2,7 Ma) dio lugar a un primer edificio central, en la parte Oeste de la isla. Cubriendo los depósitos de avalancha de Tigaiga, generados en un primer episodio destructivo, tuvo lugar la segunda fase de construcción entre 2,4 y 1,3 Ma, en la que se formó el edificio Cañadas-II. Las primeras erupciones ignimbríticas aparecen en el Norte a los 2,1 Ma, pero los depósitos piroclásticos más importantes aparecen en el flanco SO y corresponden a la Fase ignimbrítica de Adeje (1,8-1,5 Ma), procedente de un centro eruptivo occidental (C2). Entre 1,2 Ma y 0,15 Ma se construye el edificio Cañadas-III, con una nueva e importante fase ignimbrítica (la Fase de las Bandas del Sur), de edad 0,7 a 0,15 Ma, generada en un centro eruptivo oriental (C3) y emplazada esencialmente en el flanco SE. Algunas de estas erupciones piroclásticas son de un volumen suficiente como para poder haber dado lugar a una caldera (o calderas) de colapso vertical en las partes más altas del edificio, pero su tamaño, geometría y posición dentro de los edificios Cañadas-II y III son desconocidos, debido, en gran medida, a los repetidos episodios de "debris-avalanche" dirigidos hacia el Norte, que destruyeron esas posibles estructuras: el episodio destructivo de Los Roques (>0,43 y <1,4 Ma); el de La Orotava (~_0.6 Ma) y el de Icod (<0.15 Ma). Estos episodios destructivos han generado progresivamente la forma actual de la depresión de Las Cañadas., New 40Ar/39Ar ages and the structural relationships between the identified volcanological units of the Cañadas Edifice allow to define successive constructive and destructive phases which shaped the present Cañadas Caldera. The mostly basaltic Cañadas I phase (3.5-2.7 Ma) formed a first shield volcano in the W part of the island. Overlying a first debris avalanche deposit (Tigaiga breccia), a second volcanic phase built a Cañadas II edifice between 2.4 and 1.4 Ma. The oldest ignimbritic eruptions are recorded in the N at 2.1 Ma, but the pyroclastic series well exposed in the SW lower slopes were emplaced from an western C2 eruptive centre during the main (1.8-1.5 Ma) Adeje ignimbritic phase. Then the volcanic activity resumed at about 1.2 Ma and built a new Cañadas III edifice until 0.15 Ma. The later stages are strongly marked by a second main (0.7-0.15 Ma) Bandas del Sur ignimbritic phase from an eastern C3 eruptive centre; the associated pyroclastites are widespread on the SE lower slopes. Several of these pyroclastic eruptions were of sufficient large volume to trigger the formation of a complex vertical collapse caldera(s) in the summital region of the successive volcanic edifices, but their geometry and location within the Cañadas II and III edifices are poorly defined because several N directed debris avalanche events broke down these structures: the 0.43

Published
2024

35. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Author

Akizu, Naiara, Cantagrel, Vincent, Zaki, Maha S, Al-Gazali, Lihadh, Wang, Xin, Rosti, Rasim Ozgur, Dikoglu, Esra, Gelot, Antoinette Bernabe, Rosti, Basak, Vaux, Keith K, Scott, Eric M, Silhavy, Jennifer L, Schroth, Jana, Copeland, Brett, Schaffer, Ashleigh E, Gordts, Philip LSM, Esko, Jeffrey D, Buschman, Matthew D, Field, Seth J, Napolitano, Gennaro, Abdel-Salam, Ghada M, Ozgul, R Koksal, Sagıroglu, Mahmut Samil, Azam, Matloob, Ismail, Samira, Aglan, Mona, Selim, Laila, Mahmoud, Iman G, Abdel-Hadi, Sawsan, Badawy, Amera El, Sadek, Abdelrahim A, Mojahedi, Faezeh, Kayserili, Hulya, Masri, Amira, Bastaki, Laila, Temtamy, Samia, Müller, Ulrich, Desguerre, Isabelle, Casanova, Jean-Laurent, Dursun, Ali, Gunel, Murat, Gabriel, Stacey B, de Lonlay, Pascale, and Gleeson, Joseph G

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Brain Disorders, Clinical Research, Animals, Atrophy, Autophagy, Cerebellar Diseases, Cerebellum, Child, Preschool, Female, Gene Frequency, Humans, Infant, Lod Score, Lysosomal Storage Diseases, Lysosomes, Male, Mutation, Phagosomes, Sorting Nexins, Spinocerebellar Ataxias, Syndrome, Zebrafish, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology, Genetics
Abstract

Pediatric-onset ataxias often present clinically as developmental delay and intellectual disability, with prominent cerebellar atrophy as a key neuroradiographic finding. Here we describe a new clinically distinguishable recessive syndrome in 12 families with cerebellar atrophy together with ataxia, coarsened facial features and intellectual disability, due to truncating mutations in the sorting nexin gene SNX14, encoding a ubiquitously expressed modular PX domain-containing sorting factor. We found SNX14 localized to lysosomes and associated with phosphatidylinositol (3,5)-bisphosphate, a key component of late endosomes/lysosomes. Patient-derived cells showed engorged lysosomes and a slower autophagosome clearance rate upon autophagy induction by starvation. Zebrafish morphants for snx14 showed dramatic loss of cerebellar parenchyma, accumulation of autophagosomes and activation of apoptosis. Our results characterize a unique ataxia syndrome due to biallelic SNX14 mutations leading to lysosome-autophagosome dysfunction.

Published
2015

40. Characteristics and clinical outcomes after treatment of a national cohort of PCR-positive Lyme arthritis

Author

Grillon, Antoine, Scherlinger, Marc, Boyer, Pierre-Hugues, De Martino, Sylvie, Perdriger, Aleth, Blasquez, Amandine, Wipff, Julien, Korganow, Anne-Sophie, Bonnard, Christian, Cantagrel, Alain, Eyer, Didier, Guérin, François, Monteiro, Irène, Woehl, Jean-Marie, Moreau, Paul, Pennaforte, Jean-Loup, Lechevallier, Joel, Bastides, Frédéric, Colombey, Antoine, Imbert, Isabelle, Maugars, Yves, Gicquel, Philippe, Cuchet, François, Brax, Michel, Sibilia, Jean, Zilliox, Laurence, Barthel, Cathy, Arnaud, Laurent, and Jaulhac, Benoit

Published
2019
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43. De novo variants in DENND5B cause a neurodevelopmental disorder

Author

Scala, Marcello, primary, Tomati, Valeria, additional, Ferla, Matteo, additional, Lena, Mariateresa, additional, Cohen, Julie S., additional, Fatemi, Ali, additional, Brokamp, Elly, additional, Bican, Anna, additional, Phillips, John A., additional, Koziura, Mary E., additional, Nicouleau, Michael, additional, Rio, Marlene, additional, Siquier, Karine, additional, Boddaert, Nathalie, additional, Musante, Ilaria, additional, Tamburro, Serena, additional, Baldassari, Simona, additional, Iacomino, Michele, additional, Scudieri, Paolo, additional, Rosenfeld, Jill A., additional, Bellus, Gary, additional, Reed, Sara, additional, Al Saif, Hind, additional, Russo, Rossana Sanchez, additional, Walsh, Matthew B., additional, Cantagrel, Vincent, additional, Crunk, Amy, additional, Gustincich, Stefano, additional, Ruggiero, Sarah M., additional, Fitzgerald, Mark P., additional, Helbig, Ingo, additional, Striano, Pasquale, additional, Severino, Mariasavina, additional, Salpietro, Vincenzo, additional, Pedemonte, Nicoletta, additional, Zara, Federico, additional, Acosta, Maria T., additional, Adams, David R., additional, Alvarez, Raquel L., additional, Alvey, Justin, additional, Allworth, Aimee, additional, Andrews, Ashley, additional, Ashley, Euan A., additional, Afzali, Ben, additional, Bacino, Carlos A., additional, Bademci, Guney, additional, Balasubramanyam, Ashok, additional, Baldridge, Dustin, additional, Bale, Jim, additional, Bamshad, Michael, additional, Barbouth, Deborah, additional, Bayrak-Toydemir, Pinar, additional, Beck, Anita, additional, Beggs, Alan H., additional, Behrens, Edward, additional, Bejerano, Gill, additional, Bellen, Hugo J., additional, Bennett, Jimmy, additional, Bernstein, Jonathan A., additional, Berry, Gerard T., additional, Bivona, Stephanie, additional, Blue, Elizabeth, additional, Bohnsack, John, additional, Bonner, Devon, additional, Botto, Lorenzo, additional, Briere, Lauren C., additional, Brown, Gabrielle, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Butte, Manish J., additional, Byers, Peter, additional, Byrd, William E., additional, Carey, John, additional, Carrasquillo, Olveen, additional, Cassini, Thomas, additional, Chang, Ta Chen Peter, additional, Chanprasert, Sirisak, additional, Chao, HsiaoTuan, additional, Chinn, Ivan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cobban, Laurel A., additional, Cogan, Joy D., additional, Coggins, Matthew, additional, Cole, F. Sessions, additional, Colley, Heather A., additional, Cope, Heidi, additional, Corona, Rosario, additional, Craigen, William J., additional, Crouse, Andrew B., additional, Cunningham, Michael, additional, D’Souza, Precilla, additional, Dai, Hongzheng, additional, Dasari, Surendra, additional, Davis, Joie, additional, Dayal, Jyoti G., additional, Delgado, Margaret, additional, Dell'Angelica, Esteban C., additional, Dipple, Katrina, additional, Doherty, Daniel, additional, Dorrani, Naghmeh, additional, Doss, Argenia L., additional, Douine, Emilie D., additional, Earl, Dawn, additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Falk, Marni, additional, Fieg, Elizabeth L., additional, Fisher, Paul G., additional, Fogel, Brent L., additional, Forghani, Irman, additional, Fu, Jiayu, additional, Gahl, William A., additional, Glass, Ian, additional, Goddard, Page C., additional, Godfrey, Rena A., additional, Grajewski, Alana, additional, Gropman, Andrea, additional, Halley, Meghan C., additional, Hamid, Rizwan, additional, Hanchard, Neal, additional, Hassey, Kelly, additional, Hayes, Nichole, additional, High, Frances, additional, Hing, Anne, additional, Hisama, Fuki M., additional, Holm, Ingrid A., additional, Hom, Jason, additional, Horike-Pyne, Martha, additional, Huang, Alden, additional, Huang, Yan, additional, Hutchison, Sarah, additional, Introne, Wendy, additional, Isasi, Rosario, additional, Izumi, Kosuke, additional, Jarvik, Gail P., additional, Jarvik, Jeffrey, additional, Jayadev, Suman, additional, Jean-Marie, Orpa, additional, Jobanputra, Vaidehi, additional, Kaitryn, Emerald, additional, Ketkar, Shamika, additional, Kiley, Dana, additional, Kilich, Gonench, additional, Kobren, Shilpa N., additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Korrick, Susan, additional, Krakow, Deborah, additional, Krasnewich, Donna M., additional, Kravets, Elijah, additional, Lalani, Seema R., additional, Lam, Byron, additional, Lam, Christina, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, LeBlanc, Kimberly, additional, Lee, Brendan H., additional, Levitt, Roy, additional, Lewis, Richard A., additional, Liu, Pengfei, additional, Liu, Xue Zhong, additional, Longo, Nicola, additional, Loo, Sandra K., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Maghiro, AudreyStephannie, additional, Mahoney, Rachel, additional, Malicdan, May Christine V., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mao, Rong, additional, Marom, Ronit, additional, Marth, Gabor, additional, Martin, Beth A., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, McCauley, Jacob, additional, McConkie-Rosell, Allyn, additional, McCray, Alexa T., additional, McGee, Elisabeth, additional, Might, Matthew, additional, Miller, Danny, additional, Mirzaa, Ghayda, additional, Morava, Eva, additional, Moretti, Paolo, additional, Morimoto, Marie, additional, Mulvihill, John J., additional, Nakano-Okuno, Mariko, additional, Nelson, Stanley F., additional, Nieves-Rodriguez, Shirley, additional, Novacic, Donna, additional, Oglesbee, Devin, additional, Orengo, James P., additional, Pace, Laura, additional, Pak, Stephen, additional, Pallais, J. Carl, additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Petcharet, Leoyklang, additional, Posey, Jennifer E., additional, Potocki, Lorraine, additional, Swerdzewski, Barbara N. Pusey, additional, Quinlan, Aaron, additional, Rao, Deepak A., additional, Raper, Anna, additional, Raskind, Wendy, additional, Renteria, Genecee, additional, Reuter, Chloe M., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rosenthal, Elizabeth, additional, Rossignol, Francis, additional, Ruzhnikov, Maura, additional, Sabaii, Marla, additional, Sacco, Ralph, additional, Sampson, Jacinda B., additional, Saporta, Mario, additional, Schaechter, Judy, additional, Schedl, Timothy, additional, Schoch, Kelly, additional, Scott, Daryl A., additional, Seto, Elaine, additional, Sharma, Prashant, additional, Shashi, Vandana, additional, Shelkowitz, Emily, additional, Sheppeard, Sam, additional, Shin, Jimann, additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Sisco, Kathy, additional, Smith, Edward C., additional, Smith, Kevin S., additional, Solnica-Krezel, Lilianna, additional, Solomon, Ben, additional, Spillmann, Rebecca C., additional, Stergachis, Andrew, additional, Stoler, Joan M., additional, Sullivan, Kathleen, additional, Sullivan, Jennifer A., additional, Sutton, Shirley, additional, Sweetser, David A., additional, Sybert, Virginia, additional, Tabor, Holly K., additional, Tan, Queenie K.-G., additional, Tan, Amelia L.M., additional, Tarakad, Arjun, additional, Taylor, Herman, additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Ungar, Rachel A., additional, Urv, Tiina K., additional, Vanderver, Adeline, additional, Velinder, Matt, additional, Viskochil, Dave, additional, Vogel, Tiphanie P., additional, Wahl, Colleen E., additional, Walker, Melissa, additional, Walley, Nicole M., additional, Wambach, Jennifer, additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Wangler, Michael F., additional, Ward, Patricia A., additional, Wegner, Daniel, additional, Weisz Hubshman, Monika, additional, Wener, Mark, additional, Wenger, Tara, additional, Westerfield, Monte, additional, Wheeler, Matthew T., additional, Whitlock, Jordan, additional, Wolfe, Lynne A., additional, Worley, Kim, additional, Yamamoto, Shinya, additional, Zhang, Zhe, additional, and Zuchner, Stephan, additional

Published
2024
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44. Predicting Clinical Response to Monoclonal TNF Inhibitors in Rheumatoid Arthritis: A Transcriptomic Approach Based on Transmembrane TNF Reverse Signaling and NRF2 Activation

Author

Diallo, Katy, primary, Degboé, Yannick, additional, Baron, Michel, additional, Bellin-Robert, Anais, additional, Boyer, Jean Frédéric, additional, Constantin, Arnaud, additional, Ruyssen-Witrand, Adeline, additional, Rauwel, Benjamin, additional, Cantagrel, Alain, additional, and DAVIGNON, Jean-Luc, additional

Published
2024
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45. CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

Author

Schaffer, Ashleigh E, Eggens, Veerle RC, Caglayan, Ahmet Okay, Reuter, Miriam S, Scott, Eric, Coufal, Nicole G, Silhavy, Jennifer L, Xue, Yuanchao, Kayserili, Hulya, Yasuno, Katsuhito, Rosti, Rasim Ozgur, Abdellateef, Mostafa, Caglar, Caner, Kasher, Paul R, Cazemier, J Leonie, Weterman, Marian A, Cantagrel, Vincent, Cai, Na, Zweier, Christiane, Altunoglu, Umut, Satkin, N Bilge, Aktar, Fesih, Tuysuz, Beyhan, Yalcinkaya, Cengiz, Caksen, Huseyin, Bilguvar, Kaya, Fu, Xiang-Dong, Trotta, Christopher R, Gabriel, Stacey, Reis, André, Gunel, Murat, Baas, Frank, and Gleeson, Joseph G

Subjects
Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Neurodegenerative, Genetics, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Generic health relevance, Neurological, Animals, Brain, Cerebellum, Cleavage And Polyadenylation Specificity Factor, Female, Humans, Male, Mice, Models, Molecular, Neurodegenerative Diseases, Nuclear Proteins, Pedigree, Phosphotransferases, RNA Splicing, RNA, Transfer, Saccharomyces cerevisiae, Transcription Factors, Zebrafish, Zebrafish Proteins, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences
Abstract

Neurodegenerative diseases can occur so early as to affect neurodevelopment. From a cohort of more than 2,000 consanguineous families with childhood neurological disease, we identified a founder mutation in four independent pedigrees in cleavage and polyadenylation factor I subunit 1 (CLP1). CLP1 is a multifunctional kinase implicated in tRNA, mRNA, and siRNA maturation. Kinase activity of the CLP1 mutant protein was defective, and the tRNA endonuclease complex (TSEN) was destabilized, resulting in impaired pre-tRNA cleavage. Germline clp1 null zebrafish showed cerebellar neurodegeneration that was rescued by wild-type, but not mutant, human CLP1 expression. Patient-derived induced neurons displayed both depletion of mature tRNAs and accumulation of unspliced pre-tRNAs. Transfection of partially processed tRNA fragments into patient cells exacerbated an oxidative stress-induced reduction in cell survival. Our data link tRNA maturation to neuronal development and neurodegeneration through defective CLP1 function in humans.

Published
2014

47. Early Maintenance Treatment Initiation and Relapse Risk Mitigation After a First Event of MOGADin Adults: The MOGADOR2 Study.

Author

Deschamps, Romain, Guillaume, Jessica, Ciron, Jonathan, Audoin, Bertrand, Ruet, Aurélie, Maillart, Elisabeth, Pique, Julie, Benyahya, Lakhdar, Laplaud, David A., Michel, Laure, Collongues, Nicolas, Cohen, Mikael, Ayrignac, Xavier, Thouvenot, Eric, Zephir, Helene, Bourre, Bertrand, Froment Tilikete, Caroline, Moreau, Thibault, Cantagrel, Paul, and Kerschen, Philippe

Published
2024
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