Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient - Wikidata - awgldk - TriplyDB

Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient

Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient

http://www.wikidata.org/entity/Q28295089

about

Molecular modeling of the extracellular domain of the RET receptor tyrosine kinase reveals multiple cadherin-like domains and a calcium-binding site Novel mutations of the endothelin B receptor gene in patients with Hirschsprung's disease and their characterization Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23 Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features Characterisation of the human GFRalpha-3 locus and investigation of the gene in Hirschsprung disease Enovin, a member of the glial cell-line-derived neurotrophic factor (GDNF) family with growth promoting activity on neuronal cells. Existence and tissue-specific expression of different splice variants Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung's disease A novel pathogenesis of megacolon in Ncx/Hox11L.1 deficient mice Gdnf haploinsufficiency causes Hirschsprung-like intestinal obstruction and early-onset lethality in mice 2013 William Allan Award: My multifactorial journey Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease Genetic background strongly modifies the severity of symptoms of Hirschsprung disease, but not hearing loss in rats carrying Ednrb(sl) mutations.Glial cell line-derived neurotrophic factor defines the path of developing and regenerating axons in the lateral line system of zebrafish.Epigenotyping in peripheral blood cell DNA and breast cancer risk: a proof of principle study Defining the transcriptomic landscape of the developing enteric nervous system and its cellular environment WNT3A gene expression is associated with isolated Hirschsprung disease polymorphism and disease status Hirschsprung disease and other enteric dysganglionoses.Mutations in SCG10 are not involved in Hirschsprung disease.Differential expressions of BMPR1α, ACTN4α and FABP7 in Hirschsprung disease.Fine mapping of the NRG1 Hirschsprung's disease locus Fine mapping of the 9q31 Hirschsprung's disease locus.Idiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA sequence variation.Multiple endocrine neoplasia type 2 and RET: from neoplasia to neurogenesis.QTL analysis identifies a modifier locus of aganglionosis in the rat model of Hirschsprung disease carrying Ednrb(sl) mutations.Genetic background impacts developmental potential of enteric neural crest-derived progenitors in the Sox10Dom model of Hirschsprung disease.Intestinal motility disorders and development of the enteric nervous system.Clinical genetics of multiple endocrine neoplasias, Carney complex and related syndromes.A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma.Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome.Hirschsprung disease, associated syndromes, and genetics: a review.Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome.Contributions of PHOX2B in the pathogenesis of Hirschsprung disease Multiple hits during early embryonic development: digenic diseases and holoprosencephaly Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease.RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease.Association study of PHOX2B as a candidate gene for Hirschsprung's disease.Differential expression of FOXA1, DUSP6, and HA117 in colon segments of Hirschsprung's disease.Detection and preliminary screening of the human gene expression profile for Hirschsprung's disease.RET receptor signaling: dysfunction in thyroid cancer and Hirschsprung's disease.

P2860

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P2860

Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient

http://www.wikidata.org/entity/Q28295089

description

1996 nî lūn-bûn

@nan

1996 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

1996 թվականի նոյեմբերին հրատարակված գիտական հոդված

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1996年の論文

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1996年論文

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1996年論文

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1996年論文

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1996年論文

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1996年論文

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1996年论文

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name

Germline mutations in glial ce ...... a Hirschsprung disease patient

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Germline mutations in glial ce ...... a Hirschsprung disease patient

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Germline mutations in glial ce ...... a Hirschsprung disease patient

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type

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Germline mutations in glial ce ...... a Hirschsprung disease patient

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Germline mutations in glial ce ...... a Hirschsprung disease patient

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Germline mutations in glial ce ...... a Hirschsprung disease patient

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prefLabel

Germline mutations in glial ce ...... a Hirschsprung disease patient

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Germline mutations in glial ce ...... a Hirschsprung disease patient

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Germline mutations in glial ce ...... a Hirschsprung disease patient

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P1433

Nature Genetics

P1476

Germline mutations in glial ce ...... a Hirschsprung disease patient

@en

P2093

A Chakravarti

http://www.w3.org/2001/XMLSchema#string

M Angrist

http://www.w3.org/2001/XMLSchema#string

M Halushka

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P A Lapchak

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S Bolk

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P2860

Developing motor neurons rescued from programmed and axotomy-induced cell death by GDNF

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease

Defects in enteric innervation and kidney development in mice lacking GDNF

Mutations of the RET proto-oncogene in Hirschsprung's disease

GDNF-induced activation of the ret protein tyrosine kinase is mediated by GDNFR-alpha, a novel receptor for GDNF

A comprehensive genetic map of the human genome based on 5,264 microsatellites

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

The gene coding for glial cell line derived neurotrophic factor (GDNF) maps to chromosome 5p12-p13.1

Renal and neuronal abnormalities in mice lacking GDNF

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341-4

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scholarly article

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3569041

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10.1038/NG1196-341

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3

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14

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1996-11-01T00:00:00Z

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8896568

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