(Q41350378)

29 September 2017

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title

Mutations of the endothelin-B receptor and endothelin-3 genes in Hirschsprung's disease (English)

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29 September 2017

T Kusafuka

1

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29 September 2017

P Puri

series ordinal

2

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29 September 2017

publication date

1 January 1997

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Pediatric Surgery International

29 September 2017

published in

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29 September 2017

volume

12

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29 September 2017

issue

1

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29 September 2017

page(s)

19-23

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Aortic arch malformations and ventricular septal defect in mice deficient in endothelin-1

29 September 2017

cites work

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The endothelin system. A new target for therapeutic intervention

1 reference

12 December 2020

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

1 reference

12 December 2020

The human endothelin-B receptor gene. Structural organization and chromosomal assignment

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12 December 2020

Presence of furin mRNA in cultured bovine endothelial cells and possible involvement of furin in the processing of the endothelin precursor.

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12 December 2020

Processing of proendothelin-1 by human furin convertase

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12 December 2020

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

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12 December 2020

Association of 13q deletion and Hirschsprung's disease.

1 reference

12 December 2020

Differentiation of embryonal carcinoma cells to a neural or cardiomyocyte lineage is associated with selective expression of endothelin receptors

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12 December 2020

Organization, structure, chromosomal assignment, and expression of the gene encoding the human endothelin-A receptor

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A novel potent vasoconstrictor peptide produced by vascular endothelial cells

1 reference

12 December 2020

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

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12 December 2020

Interstitial deletion of long arm of chromosome 13.

1 reference

12 December 2020

Interstitial deletion of distal 13q associated with Hirschsprung's disease

1 reference

12 December 2020

Mutation analysis of the RET, the endothelin-B receptor, and the endothelin-3 genes in sporadic cases of Hirschsprung's disease

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12 December 2020

cDNA cloning and chromosomal assignment of the endothelin 2 gene: Vasoactive intestinal contractor peptide is rat endothelin 2

1 reference

12 December 2020

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

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12 December 2020

Endothelin receptor-mediated signaling in hirschsprung disease.

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12 December 2020

Elevated blood pressure and craniofacial abnormalities in mice deficient in endothelin-1

1 reference

12 December 2020

A novel peptide, vasoactive intestinal contractor, of a new (endothelin) peptide family. Molecular cloning, expression, and biological activity

1 reference

12 December 2020

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

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12 December 2020

Molecular characterization of endothelin receptors

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Cloning and expression of a cDNA encoding an endothelin receptor

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12 December 2020

Molecular biology and biochemistry of the endothelins

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12 December 2020

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

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12 December 2020

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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12 December 2020

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

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12 December 2020

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

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12 December 2020

Molecular and functional characterization of the non-isopeptide-selective ETB receptor in endothelial cells. Receptor coupling to nitric oxide synthase

1 reference

12 December 2020

Identifiers

DOI

10.1007/S003830050054

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Dimensions Publication ID

29 September 2017

1054515261

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