Novel mutations of the endothelin B receptor gene in patients with Hirschsprung's disease and their characterization (Q24309445)

negative regulation of adenylate cyclase activity

GOA release 2020-03-11

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GOA release 2020-03-11

Hirschsprung's disease

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12

S Kimura

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author name string

H Tanaka

1

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K Moroi

2

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J Iwai

3

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H Takahashi

4

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N Ohnuma

5

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S Hori

6

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M Takimoto

7

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M Nishiyama

8

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T Masaki

9

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M Yanagisawa

10

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S Sekiya

Journal of Biological Chemistry

11

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language of work or name

English

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publication date

1 May 1998

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published in

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volume

273

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issue

18

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page(s)

11378-83

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cites work

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Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

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

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A novel potent vasoconstrictor peptide produced by vascular endothelial cells

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The human endothelin family: three structurally and pharmacologically distinct isopeptides predicted by three separate genes

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Cloning and expression of a cDNA encoding an endothelin receptor

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Cloning of a cDNA encoding a non-isopeptide-selective subtype of the endothelin receptor

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Endothelin receptor subtypes and their role in transmembrane signaling mechanisms

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

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Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons

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

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Interstitial deletion of the endothelin-B receptor gene in the spotting lethal (sl) rat.

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Null mutation of endothelin receptor type B gene in spotting lethal rats causes aganglionic megacolon and white coat color

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Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease

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Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease

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Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population

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Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease

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

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

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Cassette mutagenesis: an efficient method for generation of multiple mutations at defined sites

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A general method of in vitro preparation and specific mutagenesis of DNA fragments: study of protein and DNA interactions

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Different stability of ligand-receptor complex formed with two endothelin receptor species, ETA and ETB

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

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A GPI-linked protein that interacts with Ret to form a candidate neurturin receptor

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Neurturin responsiveness requires a GPI-linked receptor and the Ret receptor tyrosine kinase.

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

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Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease

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Human homology and candidate genes for the Dominant megacolon locus, a mouse model of Hirschsprung disease.

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Palmitoylation of endothelin receptor A. Differential modulation of signal transduction activity by post-translational modification

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Truncation of the receptor carboxyl terminus impairs membrane signaling but not ligand binding of human ETB endothelin receptor

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A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10.

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Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease

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Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease

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The endothelin system. A new target for therapeutic intervention

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Effect of phosphoramidon on big endothelin-2 conversion into endothelin-2 in human renal adenocarcinoma (ACHN) cells. Analysis of endothelin-2 biosynthetic pathway

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The amino-terminal structures that determine topological orientation of cytochrome P-450 in microsomal membrane.

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