Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Autor: Sébastien Küry, Jinwei Zhang, Thomas Besnard, Alfonso Caro-Llopis, Xue Zeng, Stephanie M. Robert, Sunday S. Josiah, Emre Kiziltug, Anne-Sophie Denommé-Pichon, Benjamin Cogné, Adam J. Kundishora, Le T. Hao, Hong Li, Roger E. Stevenson, Raymond J. Louie, Wallid Deb, Erin Torti, Virginie Vignard, Kirsty McWalter, F. Lucy Raymond, Farrah Rajabi, Emmanuelle Ranza, Detelina Grozeva, Stephanie A. Coury, Xavier Blanc, Elise Brischoux-Boucher, Boris Keren, Katrin Õunap, Karit Reinson, Pilvi Ilves, Ingrid M. Wentzensen, Eileen E. Barr, Solveig Heide Guihard, Perrine Charles, Eleanor G. Seaby, Kristin G. Monaghan, Marlène Rio, Yolande van Bever, Marjon van Slegtenhorst, Wendy K. Chung, Ashley Wilson, Delphine Quinquis, Flora Bréhéret, Kyle Retterer, Pierre Lindenbaum, Emmanuel Scalais, Lindsay Rhodes, Katrien Stouffs, Elaine M. Pereira, Sara M. Berger, Sarah S. Milla, Ankita B. Jaykumar, Melanie H. Cobb, Shreyas Panchagnula, Phan Q. Duy, Marie Vincent, Sandra Mercier, Brigitte Gilbert-Dussardier, Xavier Le Guillou, Séverine Audebert-Bellanger, Sylvie Odent, Sébastien Schmitt, Pierre Boisseau, Dominique Bonneau, Annick Toutain, Estelle Colin, Laurent Pasquier, Richard Redon, Arjan Bouman, Jill. A. Rosenfeld, Michael J. Friez, Helena Pérez-Peña, Syed Raza Akhtar Rizvi, Shozeb Haider, Stylianos E. Antonarakis, Charles E. Schwartz, Francisco Martínez, Stéphane Bézieau, Kristopher T. Kahle, Bertrand Isidor

Publikováno v: Genetics in Medicine, 24(9), 1941-1951. Lippincott Williams & Wilkins
GENETICS IN MEDICINE
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Genetics in Medicine
Genetics in Medicine, 2022, 24 (9), pp.1941-1951. ⟨10.1016/j.gim.2022.05.009⟩

PURPOSE: WNK3 kinase (PRKWNK3) has been implicated in the development and function of the brain via its regulation of the cation-chloride cotransporters, but the role of WNK3 in human development is unknown. METHOD: We ascertained exome or genome seq

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::711e752a43d1442b0a91b2645fc1747e
https://doi.org/10.1016/j.gim.2022.05.009

Molecular profiling of non-small-cell lung cancer patients with or without brain metastases included in the randomized SAFIR02-LUNG trial and association with intracranial outcome

Autor: Alice Mogenet, Fabrice Barlesi, Benjamin Besse, Stefan Michiels, Maryam Karimi, Alicia Tran-Dien, Nicolas Girard, Julien Mazieres, Clarisse Audigier-Valette, Myriam Locatelli-Sanchez, Maud Kamal, Pierre Gestraud, Abderaouf Hamza, Alexandra Jacquet, Marta Jimenez, Sabrina Yara, Laurent Greillier, François Bertucci, David Planchard, Jean-Charles Soria, Ivan Bieche, Pascale Tomasini

Publikováno v: Lung Cancer
Lung Cancer, 2022, 169, pp.31-39. ⟨10.1016/j.lungcan.2022.05.004⟩

Lung cancer remains the most frequent cause of brain metastases (BMs) and is responsible for high morbidity and mortality. Intracranial response to systemic treatments is inconsistent due to several mechanisms: genomic heterogeneity, blood-tumor barr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc0515e216ca1aadab56d391da8b8038
https://doi.org/10.1016/j.lungcan.2022.05.004

Degradation of collagen I by activated C1s in periodontal Ehlers-Danlos Syndrome

Autor: Amberger, Albert, Pertoll, Johanna, Traunfellner, Pia, Kapferer-Seebacher, Ines, Stoiber, Heribert, Klimaschewski, Lars, Thielens, Nicole, Gaboriaud, Christine, Zschocke, Johannes

Publikováno v: Frontiers in Immunology
Frontiers in Immunology, 2023, 14 (12), pp.1157421. ⟨10.3389/fimmu.2023.1157421⟩
Frontiers in Immunology, 2023, 14, ⟨10.3389/fimmu.2023.1157421⟩

Periodontal Ehlers-Danlos syndrome (pEDS) is an autosomal dominant disorder characterized by early-onset periodontitis leading to premature loss of teeth, lack of attached gingiva and thin and fragile gums leading to gingival recession. Connective ti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::063124ed2892536fee6bdbc1240a3a56
https://hal.science/hal-04162891

Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish

Autor: Deepak Khatri, Audrey Putoux, Audric Cologne, Sophie Kaltenbach, Alicia Besson, Eloïse Bertiaux, Justine Guguin, Adèle Fendler, Marie A. Dupont, Clara Benoit-Pilven, Leila Qebibo, Samira Ahmed-Elie, Séverine Audebert-Bellanger, Pierre Blanc, Thomas Rambaud, Martin Castelle, Gaëlle Cornen, Sarah Grotto, Agnès Guët, Laurent Guibaud, Caroline Michot, Sylvie Odent, Lyse Ruaud, Elise Sacaze, Virginie Hamel, Rémy Bordonné, Anne-Louise Leutenegger, Patrick Edery, Lydie Burglen, Tania Attié-Bitach, Sylvie Mazoyer, Marion Delous

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, 2023, 120 (9), pp.e2102569120. ⟨10.1073/pnas.2102569120⟩

In the human genome, about 750 genes contain one intron excised by the minor spliceosome. This spliceosome comprises its own set of snRNAs, among which U4atac. Its noncoding gene, RNU4ATAC , has been found mutated in Taybi-Linder (TALS/microcephalic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff8ec8d20ada31707836e9ec93fa4cca
https://univ-rennes.hal.science/hal-04021151

WHIM Syndrome-linked CXCR4 mutations drive osteoporosis

Autor: Adrienne Anginot, Julie Nguyen, Zeina Abou Nader, Vincent Rondeau, Amélie Bonaud, Maria Kalogeraki, Antoine Boutin, Julia P. Lemos, Valeria Bisio, Joyce Koenen, Lea Hanna Doumit Sakr, Amandine Picart, Amélie Coudert, Sylvain Provot, Nicolas Dulphy, Michel Aurrand-Lions, Stéphane J. C. Mancini, Gwendal Lazennec, David H. McDermott, Fabien Guidez, Claudine Blin-Wakkach, Philip M. Murphy, Martine Cohen-Solal, Marion Espéli, Matthieu Rouleau, Karl Balabanian

Publikováno v: Nature Communications
Nature Communications, 2023, 14 (1), pp.2058. ⟨10.1038/s41467-023-37791-4⟩

WHIM Syndrome is a rare immunodeficiency caused by gain-of-function CXCR4 mutations. Here we report a decrease in bone mineral density in 25% of WHIM patients and bone defects leading to osteoporosis in a WHIM mouse model. Imbalanced bone tissue is o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84c474f81c17e04b617aedea7cbb753b
https://hal.science/hal-04077290/document