(Q33553088)

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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

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Europe PubMed Central

PubMed publication ID

28 July 2017

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 (English)

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28 July 2017

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Stilianos Antonarakis

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Periklis Makrythanasis

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Pierre Calvel

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Armine Matevossian

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Pascal Bernard

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Anne Vannier

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Christèle Desdoits-Lethimonier

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Céline Zimmermann

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Béatrice Conne

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Francine Mugneret

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1 May 2014

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28 July 2017

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e1004340

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1 June 2020

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1 May 2014

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21 June 2018

Mutations in Hedgehog acyltransferase (Hhat) perturb Hedgehog signaling, resulting in severe acrania-holoprosencephaly-agnathia craniofacial defects

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21 June 2018

Palmitoylation of Hedgehog proteins

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Hedgehog signalling promotes germ cell survival in the rat testis

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Novel homozygous mutations in Desert hedgehog gene in patients with 46,XY complete gonadal dysgenesis and prediction of its structural and functional implications by computational methods

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Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein

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21 June 2018

Hhat is a palmitoylacyltransferase with specificity for N-palmitoylation of Sonic Hedgehog

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Gene expression during sex determination reveals a robust female genetic program at the onset of ovarian development

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Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis

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21 January 2018

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12 December 2020

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Unique survival in chrondrodysplasia-hermaphrodism syndrome

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12 December 2020

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inferred from PubMed ID database lookup

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10.1371/JOURNAL.PGEN.1004340

1 reference

Europe PubMed Central

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1 June 2020

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24 November 2022

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1 June 2020

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24784881%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

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