A mouse model of Waardenburg syndrome type IV resulting from an ENU-induced mutation in endothelin 3 (Q57281718)

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30 December 2019

title

A mouse model of Waardenburg syndrome type IV resulting from an ENU-induced mutation in endothelin 3 (English)

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30 December 2019

3

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30 December 2019

Daniel Goldowitz

5

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30 December 2019

William J Pavan

6

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30 December 2019

author name string

Ivana Matera

1

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30 December 2019

Jody L Cockroft

2

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30 December 2019

David R Beier

4

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30 December 2019

publication date

1 June 2007

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Pigment Cell & Melanoma Research

30 December 2019

published in

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30 December 2019

volume

20

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30 December 2019

issue

3

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30 December 2019

page(s)

210-215

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An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

30 December 2019

cites work

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Spotlight on spotted mice: a review of white spotting mouse mutants and associated human pigmentation disorders

21 January 2018

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

21 January 2018

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Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome

21 January 2018

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

21 January 2018

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Chemical mutagenesis of the mouse genome: an overview

21 January 2018

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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)

21 January 2018

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The endothelin receptor-B is required for the migration of neural crest-derived melanocyte and enteric neuron precursors.

21 January 2018

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EDNRB/EDN3 and Hirschsprung disease type II.

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

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SOX10 mutations in patients with Waardenburg-Hirschsprung disease

21 January 2018

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A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?

21 January 2018

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SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism

21 January 2018

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

21 January 2018

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SLUG (SNAI2) deletions in patients with Waardenburg disease

21 January 2018

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Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development.

21 January 2018

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Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3.

21 January 2018

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Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.

21 January 2018

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A targeted screen to detect recessive mutations that have quantitative effects

21 January 2018

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21 January 2018

Identifiers

DOI

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30 December 2019

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