Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

Autor: Laurence Faivre, Elodie Bal, Sourour Mansour, Christine Bodemer, Nicolas Chassaing, Smail Hadj-Rabia, Asma Smahi, Yves de Prost, Steve Toupenay, Marie-Claire Vincent, Stanislas Lyonnet, Arnold Munnich, Jeanne Amiel, Marguerite Jambou, Jean-Paul Bonnefont, Philippe Guigue, Céline Cluzeau, Valérie Cormier-Daire, François Clauss, Marie-Cécile Manière, Martine Le Merrer, Sahben Masmoudi, Géraldine Viot

Publikováno v: Human Mutation
Human Mutation, Wiley, 2010, 32 (1), pp.70. ⟨10.1002/humu.21384⟩
Human Mutation, Wiley, 2010, 32 (1), pp.70. 〈10.1002/humu.21384〉

International audience; Hypohidrotic and anhidrotic ectodermal dysplasia (HED/EDA) is a rare genodermatosis characterized by abnormal development of sweat glands, teeth and hair. Three disease causing genes have been hitherto identified, namely i) ED

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3efc2a6d537793cdbefe7757ae8a3c5
https://pubmed.ncbi.nlm.nih.gov/20979233

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of α-ketoglutarate dehydrogenase deficiency

Autor: Arnold Munnich, Sahben Masmoudi, Renée Dumoulin, Dominique Chretien, Noman Kadhom, Jean-Paul Bonnefont, Marie-Hélène Odièvre, Brian H. Robinson, Pierre Rustin, Agnès Rötig

Publikováno v: Human Mutation. 25:323-324

The α-ketoglutarate dehydrogenase complex (KGDC) catalyses the decarboxylation of α-ketoglutarate into succinyl-coenzyme A in the Krebs cycle. This enzymatic complex is made up of three subunits (E1, encoded by PDHA1; E2, encoded by DLST; and E3, e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d02de313205c022c7165a6344a290e85
https://doi.org/10.1002/humu.9319