Výsledky vyhledávání

Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis

Autor: Odelia Rajanayagam, Nadia Schoenmakers, Bradley A. Carlson, Erik Schoenmakers, Rachel Peat, Francesco Muntoni, Maura Agostini, Evelien F. Gevers, Pascale Guicheney, Ryuta Tobe, Greta Lyons, Krishna Chatterjee, Carla Moran, Sadaf Farooqi, Dolph L. Hatfield, Elena G. Bochukova

Publikováno v: Journal of Clinical Investigation
Journal of Clinical Investigation, 2016, 126 (3), pp.992-996. ⟨10.1172/JCI84747⟩
Journal of Clinical Investigation, American Society for Clinical Investigation, 2016, 126 (3), pp.992-996. ⟨10.1172/JCI84747⟩

International audience; Selenium is a trace element that is essential for human health and is incorporated into more than 25 human selenocysteine-containing (Sec-containing) proteins via unique Sec-insertion machinery that includes a specific, nuclea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5b564f713cffd43e17bc6acb51e4ba5
https://hal.sorbonne-universite.fr/hal-01295150

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Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome

Publikováno v: Circ. Cardiovasc. Genet. 6, 354-361 (2013)

Background— Long-QT syndrome (LQTS) is characterized by such striking clinical heterogeneity that, even among family members carrying the same mutation, clinical outcome can range between sudden death and no symptoms. We investigated the role of ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4510a0d295be720b9900c06c3de7a567
http://hdl.handle.net/10281/138287

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Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene

Autor: Eliane Chouery, J. Andoni Urtizberea, Rachel Peat, Pascale Guicheney, Françoise Gray, Nigel F. Clarke, Kevin P. Campbell, C. Bouchet, Tobias Willer, Hiroshi Manya, Sandrine Vuillaumier-Barrot, Svetlana Maugenre, Aurélie Vandebrouck, Tamao Endo, André Mégarbané

Publikováno v: European journal of human genetics : EJHG. 19(4)

Mutation of the LARGE gene is the rarest of the six known genetic causes of α-dystroglycanopathy. We report further a family with MDC1D due to a complex genomic rearrangement that was not apparent on standard sequencing of LARGE. Two sisters in a co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb3372c8aab20ad289949d3848a7aaa7
https://pubmed.ncbi.nlm.nih.gov/21248746

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R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation

Autor: Isabelle Denjoy, Craig T. January, Véronique Fressart, Rachel Peat, Pascale Guicheney, Sabine Duchatelet, Daniel C. Bartos, J. M. Lupoglazoff, Michael J. Ackerman, Brian P. Delisle, Myriam Berthet, Didier Klug, Don E. Burgess

Background Loss-of-function mutations in the gene KCNQ1 encoding the Kv7.1 K + channel cause long QT syndrome type 1 (LQT1), whereas gain-of-function mutations are associated with short QT syndrome as well as familial atrial fibrillation (FAF). Howev

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a53ad77704ec7cb2556434111889a55
https://europepmc.org/articles/PMC3706092/

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