A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.
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Genome-wide copy number analysis uncovers a new HSCR gene: NRG3Genomic views of distant-acting enhancersMolecular modeling of the extracellular domain of the RET receptor tyrosine kinase reveals multiple cadherin-like domains and a calcium-binding siteGenetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.Enteric nervous system development: migration, differentiation, and diseaseTranscriptional Dynamics at Brain Enhancers: from Functional Specialization to NeurodegenerationIs there a role for the IHH gene in Hirschsprung's disease?Pediatric disorders with autonomic dysfunction: what role for PHOX2B?Molecular mechanisms of RET-induced Hirschsprung pathogenesisGenome-wide linkage identifies novel modifier loci of aganglionosis in the Sox10Dom model of Hirschsprung disease2013 William Allan Award: My multifactorial journeyGenome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's diseaseExpression pattern of Drosophila ret suggests a common ancestral origin between the metamorphosis precursors in insect endoderm and the vertebrate enteric neurons.Copy number variants in candidate genes are genetic modifiers of Hirschsprung diseaseIncorporating prior biological information in linkage studies increases power and limits multiple testing.Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an updateGenetic model system studies of the development of the enteric nervous system, gut motility and Hirschsprung's diseaseFine mapping of the 9q31 Hirschsprung's disease locus.Phenotype-genotype correlation in Hirschsprung disease is illuminated by comparative analysis of the RET protein sequence.The sensitivity of activated Cys Ret mutants to glial cell line-derived neurotrophic factor is mandatory to rescue neuroectodermic cells from apoptosis.Multiple endocrine neoplasia type 2 and RET: from neoplasia to neurogenesis.RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.Comprehensive analysis of NRG1 common and rare variants in Hirschsprung patientsA 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.Polymerase chain reaction-single strand conformational polymorphism analysis of rearranged during transfection proto-oncogene in Chinese familial Hirschsprung's disease.Identifying candidate Hirschsprung disease-associated RET variantsA common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.Hirschsprung disease, associated syndromes, and genetics: a review.Mutational spectrum of semaphorin 3A and semaphorin 3D genes in Spanish Hirschsprung patientsExpression profiling the developing mammalian enteric nervous system identifies marker and candidate Hirschsprung disease genesPhenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb.Multiple hits during early embryonic development: digenic diseases and holoprosencephalyDepletion of the IKBKAP ortholog in zebrafish leads to hirschsprung disease-like phenotype.Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease.SOX10 is abnormally expressed in aganglionic bowel of Hirschsprung's disease infants.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.Mapping complex disease loci in whole-genome association studies.Differential gene expression and functional analysis implicate novel mechanisms in enteric nervous system precursor migration and neuritogenesis.
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A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on January 2000
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
A human model for multigenic i ...... RET gene and a new 9q31 locus.
@en
A human model for multigenic i ...... RET gene and a new 9q31 locus.
@nl
type
label
A human model for multigenic i ...... RET gene and a new 9q31 locus.
@en
A human model for multigenic i ...... RET gene and a new 9q31 locus.
@nl
prefLabel
A human model for multigenic i ...... RET gene and a new 9q31 locus.
@en
A human model for multigenic i ...... RET gene and a new 9q31 locus.
@nl
P2093
P2860
P50
P356
P1476
A human model for multigenic i ...... RET gene and a new 9q31 locus
@en
P2093
P2860
P304
P356
10.1073/PNAS.97.1.268
P407
P577
2000-01-01T00:00:00Z