Identification du variant c.773G>A (Val245Met) dans l’exon 2 de MATN3 à partir d’une famille atteinte de dysplasie épiphysaire multiple

Autor: Binvignat, Marie

Publikováno v: Médecine humaine et pathologie. 2020

A family study based on an index case and its 23 relatives, with a clinical and radiographic presentation suggestive of polyepiphyseal dysplasia allowed the identification of a variant of unknown significance c.733G>A p. Val245M and exon 2 of MATN3 b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2592::d24cf7d53feddd25e6b93dca7d207dc4
https://dumas.ccsd.cnrs.fr/dumas-03420603/document

Otopalatodigital spectrum disorders: Refinement of the phenotypic and mutational spectrum

Autor: Moutton, Sébastien, Fergelot, Patricia, Naudion, Sophie, Cordier, Marie-Pierre, Solé, Guilhem, Guerineau, Elodie, Hubert, Christophe, Rooryck, Caroline, Vuillaume, Marie-Laure, Houcinat, Nada, Deforges, Julie, Bouron, Julie, Devès, Sylvie, Le Merrer, Martine, David, Albert, Geneviève, David, Giuliano, Fabienne, Journel, Hubert, Megarbane, André, Faivre, Laurence, Chassaing, Nicolas, Francannet, Christine, Sarrazin, Elisabeth, Stattin, Eva-Lena, Vigneron, Jacqueline, Leclair, Danielle, Abadie, Caroline, Sarda, Pierre, Baumann, Clarisse, Delrue, Marie-Ange, Arveiler, Benoit, Lacombe, Didier, Goizet, Cyril, Coupry, Isabelle

Publikováno v: Journal of Human Genetics
Journal of Human Genetics, Nature Publishing Group, 2016, 61 (8), pp.693-699. ⟨10.1038/jhg.2016.37⟩

International audience; Otopalatodigital spectrum disorders (OPDSD) constitute a group of dominant X-linked osteochondrodysplasias including four syndromes: otopalatodigital syndromes type 1 and type 2 (OPD1 and OPD2), frontometaphyseal dysplasia, an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::cc84a16be8f883e44a05981a1462efe5
https://hal-univ-tlse3.archives-ouvertes.fr/hal-03281212

Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia

Autor: Morgane Stum, Arnaud Ferry, Frédédrique Rene, Christophe Marcel, Andoni Echaniz-Laguna, Véronique Bernard, Claire-Sophie Davoine, Bertrand Fontaine, Eric Krejci, Sophie Nicole, Alban Vignaud, Marie Bangratz, Emmanuelle Girard, Jordi Molgó, Marc Herbin

Publikováno v: Human Molecular Genetics
Human Molecular Genetics, 2008, 17 (20), pp.3166-79. ⟨10.1093/hmg/ddn213⟩
Human Molecular Genetics, Oxford University Press (OUP), 2008, 17 (20), pp.3166-79. ⟨10.1093/hmg/ddn213⟩
Human Molecular Genetics, Oxford University Press (OUP), 2008, 17 (20), pp.3166-79. 〈10.1093/hmg/ddn213〉

International audience; Schwartz-Jampel syndrome (SJS) is a recessive neuromyotonia with chondrodysplasia. It results from hypomorphic mutations of the gene encoding perlecan, leading to a decrease in the levels of this heparan sulphate proteoglycan

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e340a9cdbab7dbfe8229a3bd4015c047
https://hal.science/hal-00335149

Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA

Autor: Charles Marcaillou, Pierre-Simon Jouk, Françoise Clerget-Darpoux, Joelle Chastang, Sheela Nampoothiri, Emmanuel Tubacher, Renaud Touraine, Audrey Labalme, Francis Rousseau, Patrick Edery, Annick Toutain, Mourad Sahbatou, Carol Wise, Faiza Senni, Anne-Louise Leutenegger, Elisabeth Steichen, Siren Berland, Damien Sanlaville, Michael B. Bober

Publikováno v: Science
Science, American Association for the Advancement of Science, 2011, 332 (6026), pp.240-3. ⟨10.1126/science.1202205⟩

International audience; The spliceosome, a ribonucleoprotein complex that includes proteins and small nuclear RNAs (snRNAs), catalyzes RNA splicing through intron excision and exon ligation to produce mature messenger RNAs, which, in turn serve as te

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f2957c5492a88fd9959a19ad89fcb09
https://hal.archives-ouvertes.fr/hal-01017145