Výsledky vyhledávání - "Valérie Serre"

Akademický článek

A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.

Autor: Asmaa Mamoune, Michel Bahuau, Yamina Hamel, Valérie Serre, Michele Pelosi, Florence Habarou, Marie-Ange Nguyen Morel, Bertrand Boisson, Sabrina Vergnaud, Mai Thao Viou, Luc Nonnenmacher, Monique Piraud, Patrick Nusbaum, Joseph Vamecq, Norma Romero, Chris Ottolenghi, Jean-Laurent Casanova, Pascale de Lonlay

Publikováno v: PLoS Genetics, Vol 10, Iss 11, p e1004711 (2014)

Aldolase A deficiency has been reported as a rare cause of hemolytic anemia occasionally associated with myopathy. We identified a deleterious homozygous mutation in the ALDOA gene in 3 siblings with episodic rhabdomyolysis without hemolytic anemia.

Externí odkaz: https://doaj.org/article/3473475ac66b4e78b0e843eda9d685cc

Zobrazit plný text záznamu

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling

Publikováno v: American Journal of Human Genetics, 106(6), 779-792. CELL PRESS
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 106, pp.779-792. ⟨10.1016/j.ajhg.2020.04.010⟩
Am J Hum Genet
American Journal of Human Genetics, 106(6), 779-792. Cell Press

The evolutionarily conserved hedgehog (Hh) pathway is essential for organogenesis and plays critical roles in postnatal tissue maintenance and renewal. A unique feature of the vertebrate Hh pathway is that signal transduction requires the primary cil

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1003cc76f77d065c02f6683353a2e2fc
https://hdl.handle.net/11370/f3efaa11-0ef7-4727-9a41-8f2f87fed566

Zobrazit plný text záznamu

Compound heterozygosity for severe and hypomorphicNDUFS2mutations cause non-syndromic LHON-like optic neuropathy

Autor: Valérie Serre, Xavier Zanlonghi, Martina G. Ding, Orly Elpeleg, Lucas Bianchi, Klaus Zwicker, Ulrich Brandt, Arnold Munnich, Xavier Gérard, Sylvie Gerber, Marlène Rio, Jean-Michel Rozet, Patrizia Amati-Bonneau, Josseline Kaplan, Sylvain Hanein, Agnès Rötig

Publikováno v: Journal of Medical Genetics, 54, 346-356
Journal of Medical Genetics, 54, 5, pp. 346-356

Item does not contain fulltext BACKGROUND: Non-syndromic hereditary optic neuropathy (HON) has been ascribed to mutations in mitochondrial fusion/fission dynamics genes, nuclear and mitochondrial DNA-encoded respiratory enzyme genes or nuclear genes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::473c0e99e80fcb4119128f1551303818
https://doi.org/10.1136/jmedgenet-2016-104212

Zobrazit plný text záznamu

Autor: Sylvie Bannwarth, Valérie Serre, Annabelle Chaussenot, Christian Richelme, Konstantina Fragaki, Samira Ait-El-Mkadem, C. Rouzier, Véronique Paquis-Flucklinger

Publikováno v: Journal of human genetics. 64(7)

The genetic causes of Leigh syndrome are heterogeneous, with a poor genotype-phenotype correlation. To date, more than 50 nuclear genes cause nuclear gene-encoded Leigh syndrome. NDUFS6 encodes a 13 kiloDaltons subunit, which is part of the periphera

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eca5e18b2549e795cb78f40c5ca31604
https://pubmed.ncbi.nlm.nih.gov/30948790

Zobrazit plný text záznamu

Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies

Publikováno v: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2018, 176 (5), pp.1091-1098. ⟨10.1002/ajmg.a.38684⟩

International audience; Corpus callosum (CC) is the major brain commissure connecting homologous areas of cerebral hemispheres. CC anomalies (CCAs) are the most frequent brain anomalies leading to variable neurodevelopmental outcomes making genetic c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fa0d521afc6b72a2d2df17d016eec36
https://hal.archives-ouvertes.fr/hal-02087841

Zobrazit plný text záznamu

Quantitative proteomics in Friedreich's ataxia B-lymphocytes: A valuable approach to decipher the biochemical events responsible for pathogenesis

Autor: Emmanuel Lesuisse, Bastien Morlet, Jean-Michel Camadro, Lorène Télot, Valérie Serre, Elodie Rousseau, Camille Garcia, Thibaut Léger

Publikováno v: Biochimica et Biophysica Acta-Molecular Basis of Disease
Biochimica et Biophysica Acta-Molecular Basis of Disease, Elsevier, 2018, 1864 (4), pp.997-1009. ⟨10.1016/j.bbadis.2018.01.010⟩

International audience; Friedreich's ataxia (FRDA) represents the most frequent type of autosomal-recessively inherited ataxia and is caused by the deficiency of frataxin, a mitochondrial protein. It is known that frataxin-deficiency leads to alterat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::129ef52149bcf4f20b8b0e777b3b2944
https://hal.archives-ouvertes.fr/hal-01911156

Zobrazit plný text záznamu

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation

Autor: Olivier Hermine, Meriem Garfa-Traore, Christine Bole-Feysot, Arnold Munnich, Agnès Rötig, Floriane Petit, Anthony Drecourt, Metodi D. Metodiev, Nicolas Goudin, Isabelle Desguerre, Chris Ottolenghi, Joel Babdor, Michael Dussiot, Florence Habarou, Nathalie Boddaert, Valérie Serre, Patrick Nitschke

Publikováno v: American journal of human genetics. 102(2)

Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous condition characterized by progressive dystonia with iron accumulation in the basal ganglia. How NBIA-associated mutations trigger iron overload remains poorly under

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cac46326e3baa47fb7089fd834e1e0ad
https://pubmed.ncbi.nlm.nih.gov/29395073

Zobrazit plný text záznamu

WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia

Autor: Ashley S. Kim, Kim-Hanh Le Quan Sang, Céline Huber, Sulin Wu, Sabine Sigaudy, Valérie Cormier-Daire, Arnold Munnich, Valérie Serre, Daniel H. Cohn, David L. Rimoin, Deborah Krakow, Geneviève Baujat, Anna Sarukhanov

Publikováno v: The American Journal of Human Genetics. 93:926-931

Short-rib polydactyly (SRP) syndrome type III, or Verma-Naumoff syndrome, is an autosomal-recessive chondrodysplasia characterized by short ribs, a narrow thorax, short long bones, an abnormal acetabulum, and numerous extraskeletal malformations and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fda878734469232b6ed4f1c2c97ea31
https://doi.org/10.1016/j.ajhg.2013.10.007

Zobrazit plný text záznamu

ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia

Publikováno v: American Journal of Human Genetics 2 (92), 265-270. (2013)

Anophthalmia and microphthalmia (A/M) are early-eye-development anomalies resulting in absent or small ocular globes, respectively. A/M anomalies occur in syndromic or nonsyndromic forms. They are genetically heterogeneous, some mutations in some gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e927d9fecaa00d825b6293182265a2dd

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání