Loss of function effect of RET mutations causing Hirschsprung 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 diseaseDocking protein FRS2 links the protein tyrosine kinase RET and its oncogenic forms with the mitogen-activated protein kinase signaling cascadeExclusion of linkage between RET and neuronal intestinal dysplasia type BMolecular mechanisms of RET-induced Hirschsprung pathogenesisDefining the transcriptomic landscape of the developing enteric nervous system and its cellular environmentDifferential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liabilityThe sensitivity of activated Cys Ret mutants to glial cell line-derived neurotrophic factor is mandatory to rescue neuroectodermic cells from apoptosis.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.Hirschsprung disease, associated syndromes, and genetics: a review.Induction of RET dependent and independent pro-inflammatory programs in human peripheral blood mononuclear cells from Hirschsprung patients.Oncological implications of RET gene mutations in Hirschsprung's disease.Specific haplotypes of the RET proto-oncogene are over-represented in patients with sporadic papillary thyroid carcinoma.RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling.RET is a potential tumor suppressor gene in colorectal cancer.RET receptor signaling: dysfunction in thyroid cancer and Hirschsprung's disease.A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.A targeting mutation of tyrosine 1062 in Ret causes a marked decrease of enteric neurons and renal hypoplasiaRET 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.Building a brain in the gut: development of the enteric nervous system.PI3K/Akt/mTOR signaling in medullary thyroid cancer: a promising molecular target for cancer therapy.Expression variability and function of the RET gene in adult peripheral blood mononuclear cells.Renal aplasia in humans is associated with RET mutations.Mutations in the extracellular domain cause RET loss of function by a dominant negative mechanism.Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.Deciphering adaptor specificity in GFL-dependent RET-mediated proliferation and neurite outgrowth.Glial cell line-derived neurotrophic factor induces proliferative inhibition of NT2/D1 cells through RET-mediated up-regulation of the cyclin-dependent kinase inhibitor p27(kip1).Glial cell line-derived neurotrophic factor-stimulated phosphatidylinositol 3-kinase and Akt activities exert opposing effects on the ERK pathway: importance for the rescue of neuroectodermic cells.Key role of Shc signaling in the transforming pathway triggered by Ret/ptc2 oncoprotein.RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems.Neurocristopathy: its growth and development in 20 years.Molecular biology of the MEN2 gene.Expression of the receptor tyrosine kinase Ret on the plasma membrane is dependent on calcium.Hirschsprung's disease genes and the development of the enteric nervous system.RET receptor tyrosine kinase gene mutations: molecular biological, physiological and clinical aspects.A mutation in the RET proto-oncogene in Hirschsprung's disease affects the tyrosine kinase activity associated with multiple endocrine neoplasia type 2A and 2BThe RET proto-oncogene: a challenge to our understanding of disease pathogenesis.The null oncogene hypothesis and protection from cancer.Hirschsprung disease of the colon, a vaginal mass and medullary thyroid cancer - a RET oncogene driven problem.
P2860
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P2860
Loss of function effect of RET mutations causing Hirschsprung disease.
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
1995年论文
@zh
1995年论文
@zh-cn
name
Loss of function effect of RET mutations causing Hirschsprung disease.
@en
Loss of function effect of RET mutations causing Hirschsprung disease.
@nl
type
label
Loss of function effect of RET mutations causing Hirschsprung disease.
@en
Loss of function effect of RET mutations causing Hirschsprung disease.
@nl
prefLabel
Loss of function effect of RET mutations causing Hirschsprung disease.
@en
Loss of function effect of RET mutations causing Hirschsprung disease.
@nl
P2093
P2860
P50
P356
P1433
P1476
Loss of function effect of RET mutations causing Hirschsprung disease
@en
P2093
M G Borrello
P Mondellini
P2860
P2888
P356
10.1038/NG0595-35
P407
P577
1995-05-01T00:00:00Z
P5875
P6179
1011229645