(Q44159321)

30 November 2017

Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease (English)

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genome-wide association study

30 November 2017

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author name string

Minerva M Carrasquillo

1

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30 November 2017

Andrew S McCallion

2

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30 November 2017

Erik G Puffenberger

3

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30 November 2017

Carl S Kashuk

4

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30 November 2017

Nassim Nouri

5

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30 November 2017

Aravinda Chakravarti

6

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30 November 2017

language of work or name

English

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publication date

23 September 2002

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30 November 2017

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30 November 2017

32

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30 November 2017

237-244

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30 November 2017

2

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describes a project that uses

30 November 2017

genome-wide association study

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https://scigraph.springernature.com/pub.10.1038/ng998

inferred from title

exact match

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cites work

Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22

1 reference

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

21 January 2018

1 reference

Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

21 January 2018

1 reference

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

21 January 2018

1 reference

Segregation at three loci explains familial and population risk in Hirschsprung disease

21 January 2018

1 reference

Expression of T-cadherin (CDH13, H-Cadherin) in human brain and its characteristics as a negative growth regulator of epidermal growth factor in neuroblastoma cells

21 January 2018

1 reference

The full oncogenic activity of Ret/ptc2 depends on tyrosine 539, a docking site for phospholipase Cgamma

21 January 2018

1 reference

Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease

21 January 2018

1 reference

Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression

21 January 2018

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RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease

21 January 2018

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Molecular characterization of four induced alleles at the Ednrb locus

21 January 2018

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Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret

21 January 2018

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Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice

21 January 2018

1 reference

Endothelin-B receptor is expressed by neural crest cells in the avian embryo

21 January 2018

1 reference

Expression of endothelin 3 by mesenchymal cells of embryonic mouse caecum

21 January 2018

1 reference

Signal transduction. Team blue sees red.

21 January 2018

1 reference

Receptor-tyrosine-kinase- and G beta gamma-mediated MAP kinase activation by a common signalling pathway

21 January 2018

1 reference

EGF receptor transactivation by G-protein-coupled receptors requires metalloproteinase cleavage of proHB-EGF

21 January 2018

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Regulation of tyrosine kinase cascades by G-protein-coupled receptors.

21 January 2018

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Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease

21 January 2018

1 reference

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

A second-generation linkage map of the human genome

21 January 2018

1 reference

Identification of the Cys634-->Tyr mutation of the RET proto-oncogene in a pedigree with multiple endocrine neoplasia type 2A and localized cutaneous lichen amyloidosis

21 January 2018

1 reference

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

21 January 2018

1 reference

A 1.5-megabase yeast artificial chromosome contig from human chromosome 10q11.2 connecting three genetic loci (RET, D10S94, and D10S102) closely linked to the MEN2A locus

21 January 2018

1 reference

Consed: a graphical tool for sequence finishing

21 January 2018

1 reference

Sp1 and Sp3 transactivate the RET proto-oncogene promoter

21 January 2018

1 reference

Neuronal differentiation signals are controlled by nerve growth factor receptor/Trk binding sites for SHC and PLC gamma.

21 January 2018

1 reference

7 January 2021

inferred from DOI database lookup

Association of Megacolon with Two Recessive Spotting Genes in the Mouse

1 reference

7 January 2021

inferred from DOI database lookup

BLAT—The BLAST-Like Alignment Tool

1 reference

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/NG998

1 reference

30 November 2017

1 reference