A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease (Q24311512)

nervous system development

GOA release 2020-03-11

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GOA release 2020-03-11

Hirschsprung's disease

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E G Puffenberger

1

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K Hosoda

2

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S S Washington

3

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K Nakao

4

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D deWit

5

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M Yanagisawa

6

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A Chakravart

Waardenburg syndrome and Hirschsprung disease: evidence for pleiotropic effects of a single dominant gene

7

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language of work or name

English

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publication date

30 December 1994

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published in

Cell

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volume

79

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issue

7

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page(s)

1257-66

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cites work

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7 January 2021

Overo lethal white foal syndrome: equine model of aganglionic megacolon (Hirschsprung disease).

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7 January 2021

Inability of neural crest cells to colonize the presumptive aganglionic bowel of ls/ls mutant mice: requirement for a permissive microenvironment

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7 January 2021

Identification, chromosomal location, and genome organization of mammalian G-protein-coupled receptors

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7 January 2021

A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus

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7 January 2021

Separation of retinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del(13)(q14.1q22.3)

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7 January 2021

A vascular cause for aganglionic bowel. A new hypothesis

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7 January 2021

Cloning and functional expression of human cDNA for the ETB endothelin receptor

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7 January 2021

Molecular cloning of a non-isopeptide-selective human endothelin receptor

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7 January 2021

Localization of endothelinlike immunoreactivity and endothelin binding sites in human colon

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7 January 2021

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

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7 January 2021

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

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7 January 2021

ECE-1: a membrane-bound metalloprotease that catalyzes the proteolytic activation of big endothelin-1

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7 January 2021

Molecular characterization of endothelin receptors

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7 January 2021

Cloning and expression of a cDNA encoding an endothelin receptor

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7 January 2021

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

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7 January 2021

A first-generation physical map of the human genome

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Why testicles are cool

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Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map.

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7 January 2021

The 1993-94 Généthon human genetic linkage map

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A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Association of Megacolon with Two Recessive Spotting Genes in the Mouse

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7 January 2021

Association of megacolon with a new dominant spotting gene (Dom) in the mouse

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Mutational analysis of human endothelin receptors ETA and ETB identification of regions involved in the selectivity for endothelin 3 or cyclo-(D-Trp-D-Asp-Pro-D-Val-Leu).

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Identification of the cystic fibrosis gene: genetic analysis

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Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

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7 January 2021

Association of 13q deletion and Hirschsprung's disease.

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7 January 2021

Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.

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A theory for radiation hybrid (Goss-Harris) mapping: Application to proximal 21q markers

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7 January 2021

The endothelin system. A new target for therapeutic intervention

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7 January 2021

10.1016/0092-8674(94)90016-7

Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

8001158

1 reference

Consolidated OpenCitations Corpus – April 2017