Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung's disease

Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung's disease

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http://www.wikidata.org/entity/Q28302375
Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events.Defining the transcriptomic landscape of the developing enteric nervous system and its cellular environmentExpression of PROKR1 and PROKR2 in human enteric neural precursor cells and identification of sequence variants suggest a role in HSCR.QTL analysis identifies a modifier locus of aganglionosis in the rat model of Hirschsprung disease carrying Ednrb(sl) mutations.Comprehensive analysis of NRG1 common and rare variants in Hirschsprung patientsContributions of PHOX2B in the pathogenesis of Hirschsprung diseaseMutational spectrum of semaphorin 3A and semaphorin 3D genes in Spanish Hirschsprung patientsIdentification of genetic loci affecting the severity of symptoms of Hirschsprung disease in rats carrying Ednrbsl mutations by quantitative trait locus analysis.Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patientsFour new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease.RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family.Advances in molecular genetics of Hirschsprung's disease.Familial Hirschsprung's disease: a systematic review.Site-specific gene expression and localization of growth factor ligand receptors RET, GFRα1 and GFRα2 in human adult colon.Genetic Background of Hirschsprung Disease: A Bridge Between Basic Science and Clinical Application.RET gene is a major risk factor for Hirschsprung's disease: a meta-analysis.An Impairment of Long Distance SOX10 Regulatory Elements Underlies Isolated Hirschsprung Disease
P2860

Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung's disease

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http://www.wikidata.org/entity/Q28302375
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2011 nî lūn-bûn
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2011 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2011 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2011年の論文
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2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
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2011年论文
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name
Novel mutations at RET ligand ...... ated to Hirschsprung's disease
@ast
Novel mutations at RET ligand ...... ated to Hirschsprung's disease
@en
Novel mutations at RET ligand ...... ated to Hirschsprung's disease
@nl
type
label
Novel mutations at RET ligand ...... ated to Hirschsprung's disease
@ast
Novel mutations at RET ligand ...... ated to Hirschsprung's disease
@en
Novel mutations at RET ligand ...... ated to Hirschsprung's disease
@nl
prefLabel
Novel mutations at RET ligand ...... ated to Hirschsprung's disease
@ast
Novel mutations at RET ligand ...... ated to Hirschsprung's disease
@en
Novel mutations at RET ligand ...... ated to Hirschsprung's disease
@nl
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P2093
P2860
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Novel mutations at RET ligand ...... ated to Hirschsprung's disease
@en
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P577
P5875
P6179
P698