Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling

Details

Serval ID
serval:BIB_359C54BAB25D
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling
Journal
PLoS Genet
Author(s)
Callier P., Calvel P., Matevossian A., Makrythanasis P., Bernard P., Kurosaka H., Vannier A., Thauvin-Robinet C., Borel C., Mazaud-Guittot S., Rolland A., Desdoits-Lethimonier C., Guipponi M., Zimmermann C., Stevant I., Kuhne F., Conne B., Santoni F., Lambert S., Huet F., Mugneret F., Jaruzelska J., Faivre L., Wilhelm D., Jegou B., Trainor P. A., Resh M. D., Antonarakis S. E., Nef S.
ISSN
1553-7404 (Electronic)
ISSN-L
1553-7390
Publication state
Published
Issued date
05/2014
Volume
10
Number
5
Pages
e1004340
Language
english
Keywords
46, XY Disorders of Sex Development/*genetics, Acyltransferases/chemistry/*genetics/metabolism, Amino Acid Sequence, Animals, Female, Hedgehog Proteins/*metabolism, Homozygote, Humans, Lipoylation/*genetics, Male, Mice, Molecular Sequence Data, *Mutation, Missense, Pedigree, Sequence Homology, Amino Acid, Signal Transduction/*genetics, Testis/embryology
Pubmed
Create date
20/05/2019 13:40
Last modification date
14/12/2019 7:26
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