X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling-Reference-Cited by-同舟云学术

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling

Published:2001-03 Issue:3 Volume:27 Page:277-285
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Döffinger Rainer,Smahi Asma,Bessia Christine,Geissmann Frédéric,Feinberg Jacqueline,Durandy Anne,Bodemer Christine,Kenwrick Sue,Dupuis-Girod Sophie,Blanche Stéphane,Wood Philip,Rabia Smail Hadj,Headon Denis J.,Overbeek Paul A.,Le Deist Françoise,Holland Steven M.,Belani Kiran,Kumararatne Dinakantha S.,Fischer Alain,Shapiro Ralph,Conley Mary Ellen,Reimund Eric,Kalhoff Hermann,Abinun Mario,Munnich Arnold,Israël Alain,Courtois Gilles,Casanova Jean-Laurent

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng0301_277.pdf

Reference50 articles.

1. Pinheiro, M. & Freire-Maia, N. Ectodermal dysplasias: a clinical classification and a causal review. Am. J. Med. Genet. 53, 153–162 (1994).

2. Kere, J. et al. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nature Genet. 13, 409–416 (1996).

3. Ezer, S., Bayes, M., Elomaa, O., Schlessinger, D. & Kere, J. Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells. Hum. Mol. Genet. 8, 2079–2086 (1999).

4. Monreal, A.W. et al. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nature Genet. 22, 366–369 (1999).

5. Frix, C.D.d. & Bronson, D.M. Acute miliary tuberculosis in a child with anhidrotic ectodermal dysplasia. Pediatr. Dermatol. 3, 464–467 (1986).

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