Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease.
about
RET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary thyroid carcinoma familyThe RET proto-oncogene induces apoptosis: a novel mechanism for Hirschsprung diseaseRap1GAP interacts with RET and suppresses GDNF-induced neurite outgrowthNovel mutations of the endothelin B receptor gene in patients with Hirschsprung's disease and their characterizationGFRalpha-2 and GFRalpha-3 are two new receptors for ligands of the GDNF familyMultiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome)Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23Shc and Enigma are both required for mitogenic signaling by Ret/ptc2.Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical featuresNeurotrophins: roles in neuronal development and functionThe locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28The neuronal scaffold protein Shank3 mediates signaling and biological function of the receptor tyrosine kinase Ret in epithelial cellsCharacterisation of the human GFRalpha-3 locus and investigation of the gene in Hirschsprung diseaseNovel p62dok family members, dok-4 and dok-5, are substrates of the c-Ret receptor tyrosine kinase and mediate neuronal differentiationSingle-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humansA collagen VI-dependent pathogenic mechanism for Hirschsprung's disease.Receptor tyrosine kinase signaling: regulating neural crest development one phosphate at a timeEnovin, 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 variantsMyelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutationIs there a role for the IHH gene in Hirschsprung's disease?Multiple endocrine neoplasia type 2: an overviewA homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)Direct association between the Ret receptor tyrosine kinase and the Src homology 2-containing adapter protein Grb7Endothelin-3 frameshift mutation in congenital central hypoventilation syndromeExclusion of linkage between RET and neuronal intestinal dysplasia type BGermline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patientGermline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung diseaseA novel pathogenesis of megacolon in Ncx/Hox11L.1 deficient miceGdnf haploinsufficiency causes Hirschsprung-like intestinal obstruction and early-onset lethality in miceIdentification and characterization of GFRalpha-3, a novel Co-receptor belonging to the glial cell line-derived neurotrophic receptor family2013 William Allan Award: My multifactorial journeyDiminished Ret expression compromises neuronal survival in the colon and causes intestinal aganglionosis in mice.The new dysmorphology: application of insights from basic developmental biology to the understanding of human birth defects.Expression pattern of Drosophila ret suggests a common ancestral origin between the metamorphosis precursors in insect endoderm and the vertebrate enteric neurons.Dependence receptors: between life and death.Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an updateGenetic mapping of the FACC gene and linkage analysis in Fanconi anaemia families.Modeling stochastic gene expression: implications for haploinsufficiency.Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia
P2860
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P2860
Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease.
description
1994 nî lūn-bûn
@nan
1994 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Point mutations affecting the ...... ene in Hirschsprung's disease.
@ast
Point mutations affecting the ...... ene in Hirschsprung's disease.
@en
Point mutations affecting the ...... ene in Hirschsprung's disease.
@nl
type
label
Point mutations affecting the ...... ene in Hirschsprung's disease.
@ast
Point mutations affecting the ...... ene in Hirschsprung's disease.
@en
Point mutations affecting the ...... ene in Hirschsprung's disease.
@nl
prefLabel
Point mutations affecting the ...... ene in Hirschsprung's disease.
@ast
Point mutations affecting the ...... ene in Hirschsprung's disease.
@en
Point mutations affecting the ...... ene in Hirschsprung's disease.
@nl
P2093
P356
P1433
P1476
Point mutations affecting the ...... ene in Hirschsprung's disease.
@en
P2093
Bocciardi R
Ceccherini I
Kääriäinen H
Ronchetto P
P2888
P304
P356
10.1038/367377A0
P407
P577
1994-01-01T00:00:00Z
P6179
1038079474