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
about
In mammalian foetal testes, SOX9 regulates expression of its target genes by binding to genomic regions with conserved signatures.The emerging role of insulin-like growth factors in testis development and function.DSDs: genetics, underlying pathologies and psychosexual differentiation.46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome SequencingPalmitoylation and depalmitoylation defects.Genetic regulation of mammalian gonad development.Disorders of sex development: effect of molecular diagnostics.Testis Cord Maintenance in Mouse Embryos: Genes and Signaling.Anomalies in human sex determination provide unique insights into the complex genetic interactions of early gonad development.Hh mutants abrogate ligand secretionHHAT G278V abrogates palmitoylation of Hh-NpEffects of the insulin-like growth factor system on testicular differentiation and function: a review of the literature.HHAT G287V doesn't palmitoylate Hh-NpHHAT palmitoylates Hh N-terminal fragmentYeast Gup1(2) Proteins Are Homologues of the Hedgehog Morphogens Acyltransferases HHAT(L): Facts and Implications.
P2860
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P2860
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
description
2014 nî lūn-bûn
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2014 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի մայիսին հրատարակված գիտական հոդված
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2014年の論文
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2014年論文
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2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
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name
Loss of function mutation in t ...... n palmitoylation and signaling
@ast
Loss of function mutation in t ...... n palmitoylation and signaling
@en
Loss of function mutation in t ...... palmitoylation and signaling.
@nl
type
label
Loss of function mutation in t ...... n palmitoylation and signaling
@ast
Loss of function mutation in t ...... n palmitoylation and signaling
@en
Loss of function mutation in t ...... palmitoylation and signaling.
@nl
prefLabel
Loss of function mutation in t ...... n palmitoylation and signaling
@ast
Loss of function mutation in t ...... n palmitoylation and signaling
@en
Loss of function mutation in t ...... palmitoylation and signaling.
@nl
P2093
P2860
P50
P1433
P1476
Loss of function mutation in t ...... n palmitoylation and signaling
@en
P2093
Anne Vannier
Armine Matevossian
Béatrice Conne
Christel Thauvin-Robinet
Christelle Borel
Christèle Desdoits-Lethimonier
Céline Zimmermann
Francine Mugneret
Françoise Kuhne
Frederic Huet
P2860
P304
P356
10.1371/JOURNAL.PGEN.1004340
P50
P577
2014-05-01T00:00:00Z