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

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.

doi:10.1371/journal.pgen.1004340

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

Détails

Télécharger: 24784881_BIB_359C54BAB25D.pdf (9136.99 [Ko])
Etat: Public
Version: Final published version
Licence: CC BY 4.0

ID Serval

serval:BIB_359C54BAB25D

Type

Article: article d'un périodique ou d'un magazine.

Collection

Publications

Institution

UNIL/CHUV

Titre

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

Périodique

PLoS Genet

Auteur⸱e⸱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

Statut éditorial

Publié

Date de publication

05/2014

Volume

10

Numéro

5

Pages

e1004340

Langue

anglais

Mots-clé

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

URN

urn:nbn:ch:serval-BIB_359C54BAB25D4

OAI-PMH

oai:serval.unil.ch:BIB_359C54BAB25D

DOI

10.1371/journal.pgen.1004340

Pubmed

24784881

Création de la notice

20/05/2019 13:40

Dernière modification de la notice

30/04/2021 7:09