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Title:

Viable Ednramice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation.

Document type:
Journal Article; Research Support, Non-U.S. Gov't; Article
Author(s):
Sabrautzki, Sibylle; Sandholzer, Michael A; Lorenz-Depiereux, Bettina; Brommage, Robert; Przemeck, Gerhard; Vargas Panesso, Ingrid L; Vernaleken, Alexandra; Garrett, Lillian; Baron, Katharina; Yildirim, Ali Ö; Rozman, Jan; Rathkolb, Birgit; Gau, Christine; Hans, Wolfgang; Hoelter, Sabine M; Marschall, Susan; Stoeger, Claudia; Becker, Lore; Fuchs, Helmut; Gailus-Durner, Valerie; Klingenspor, Martin; Klopstock, Thomas; Lengger, Christoph; Stefanie, Leuchtenberger; Wolf, Eckhard; Strom, Tim M; Wurs...     »
Abstract:
Animal models resembling human mutations are valuable tools to research the features of complex human craniofacial syndromes. This is the first report on a viable dominant mouse model carrying a non-synonymous sequence variation within the endothelin receptor type A gene (Ednra c.386A>T, p.Tyr129Phe) derived by an ENU mutagenesis program. The identical amino acid substitution was reported recently as disease causing in three individuals with the mandibulofacial dysostosis with alopecia (MFDA, OM...     »
Journal title abbreviation:
Mamm Genome
Year:
2016
Journal volume:
27
Journal issue:
11-12
Pages contribution:
587-598
Language:
eng
Fulltext / DOI:
doi:10.1007/s00335-016-9664-5
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/27671791
Print-ISSN:
0938-8990
TUM Institution:
Institut für Humangenetik
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