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

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

Item
http://www.wikidata.org/entity/Q21563367
The Roles of Hedgehog Signaling in Upper Lip FormationSpecialized filopodia: at the 'tip' of morphogen transport and vertebrate tissue patterningHoloprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humansThe old and new face of craniofacial research: How animal models inform human craniofacial genetic and clinical dataLoss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signalingRdh10 loss-of-function and perturbed retinoid signaling underlies the etiology of choanal atresia.Exome sequencing identifies three novel candidate genes implicated in intellectual disabilityTaspase1-dependent TFIIA cleavage coordinates head morphogenesis by limiting Cdkn2a locus transcription.Cranial nerve development requires co-ordinated Shh and canonical Wnt signaling.Molecular mechanisms of midfacial developmental defects.A review of hedgehog signaling in cranial bone developmentDisrupting hedgehog and WNT signaling interactions promotes cleft lip pathogenesis.Hand in glove: brain and skull in development and dysmorphogenesis.The Genetics of Fetal Alcohol Spectrum Disorders.Ventral neural patterning in the absence of a Shh activity gradient from the floorplate.Suppressor of Fused restraint of Hedgehog activity level is critical for osteogenic proliferation and differentiation during calvarial bone development.7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages.
P2860

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

Item
http://www.wikidata.org/entity/Q21563367
description
2012 nî lūn-bûn
@nan
2012 թուականին հրատարակուած գիտական յօդուած
@hyw
2012 թվականին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Mutations in Hedgehog acyltran ...... -agnathia craniofacial defects
@ast
Mutations in Hedgehog acyltran ...... -agnathia craniofacial defects
@en
Mutations in Hedgehog acyltran ...... -agnathia craniofacial defects
@en-gb
Mutations in Hedgehog acyltran ...... -agnathia craniofacial defects
@nl
type
label
Mutations in Hedgehog acyltran ...... -agnathia craniofacial defects
@ast
Mutations in Hedgehog acyltran ...... -agnathia craniofacial defects
@en
Mutations in Hedgehog acyltran ...... -agnathia craniofacial defects
@en-gb
Mutations in Hedgehog acyltran ...... -agnathia craniofacial defects
@nl
altLabel
Mutations in Hedgehog Acyltran ...... -Agnathia Craniofacial Defects
@en
prefLabel
Mutations in Hedgehog acyltran ...... -agnathia craniofacial defects
@ast
Mutations in Hedgehog acyltran ...... -agnathia craniofacial defects
@en
Mutations in Hedgehog acyltran ...... -agnathia craniofacial defects
@en-gb
Mutations in Hedgehog acyltran ...... -agnathia craniofacial defects
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P921
P932
P356
P1433
P1476
Mutations in Hedgehog acyltran ...... -agnathia craniofacial defects
@en
P2093
P2860
P304
P31
P356
10.1371/JOURNAL.PGEN.1002927
P407
P433
P478
P577
P5875
P698
P921
P932