(Q34536726)

2 August 2017

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title

Mouse models for four types of Waardenburg syndrome (English)

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2 August 2017

Masayoshi Tachibana

1

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2 August 2017

Yasuhito Kobayashi

series ordinal

2

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2 August 2017

Yoshibumi Matsushima

series ordinal

3

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2 August 2017

publication date

1 October 2003

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Pigment Cell & Melanoma Research

2 August 2017

published in

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2 August 2017

volume

16

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2 August 2017

issue

5

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2 August 2017

page(s)

448-454

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splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3

2 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

Effects of Pax3 modifier genes on craniofacial morphology, pigmentation, and viability: a murine model of Waardenburg syndrome variation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

Ectopic expression of MITF, a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocyte characteristics

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

MITF: a stream flowing for pigment cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

Bcl2 regulation by the melanocyte master regulator Mitf modulates lineage survival and melanoma cell viability

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

Melanocyte-specific microphthalmia-associated transcription factor isoform activates its own gene promoter through physical interaction with lymphoid-enhancing factor 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

An L1 element intronic insertion in the black-eyed white (Mitf[mi-bw]) gene: the loss of a single Mitf isoform responsible for the pigmentary defect and inner ear deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

SLUG (SNAI2) deletions in patients with Waardenburg disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

The zinc-finger protein slug causes desmosome dissociation, an initial and necessary step for growth factor-induced epithelial-mesenchymal transition

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

The Slug gene is not essential for mesoderm or neural crest development in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

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

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

Analysis of SOX10 function in neural crest-derived melanocyte development: SOX10-dependent transcriptional control of dopachrome tautomerase

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

Identification of a distal enhancer for the melanocyte-specific promoter of the MITF gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

Direct regulation of the Microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated hypopigmentation and deafness to WS2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

Signalling mechanisms of endothelin-induced mitogenesis and melanogenesis in human melanocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

Microphthalmia gene product as a signal transducer in cAMP-induced differentiation of melanocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

Cyclic AMP a key messenger in the regulation of skin pigmentation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

MAP kinase links the transcription factor Microphthalmia to c-Kit signalling in melanocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

The splotch-delayed (Spd) mouse mutant carries a point mutation within the paired box of the Pax-3 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

Analysis of the Pax-3 gene in the mouse mutant splotch

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

A new inbred strain JF1 established from Japanese fancy mouse carrying the classic piebald allele

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

Mitogen-activated protein kinase pathway and AP-1 are activated during cAMP-induced melanogenesis in B-16 melanoma cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

Glycogen Synthase Kinase 3β Is Activated by cAMP and Plays an Active Role in the Regulation of Melanogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

Waardenburg syndrome type II: phenotypic findings and diagnostic criteria

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

7 January 2021

The mutational spectrum in Waardenburg syndrome.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

7 January 2021

Normal hearing in Splotch (Sp/+), the mouse homologue of Waardenburg syndrome type 1.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

7 January 2021

Cochlear disorder associated with melanocyte anomaly in mice with a transgenic insertional mutation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

7 January 2021

Sound needs sound melanocytes to be heard

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

7 January 2021

Evidence to suggest that expression of MITF induces melanocyte differentiation and haploinsufficiency of MITF causes Waardenburg syndrome type 2A.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

7 January 2021

Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

7 January 2021

The semidominant Mi(b) mutation identifies a role for the HLH domain in DNA binding in addition to its role in protein dimerization

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

7 January 2021

Human haploinsufficiency — one for sorrow, two for joy

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

7 January 2021

Control of cell behavior during vertebrate development by Slug, a zinc finger gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

7 January 2021

Microsatellite database for MSM/Ms and JF1/Ms, molossinus-derived inbred strains.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

7 January 2021

A high-resolution genetic map of mouse chromosome 15 encompassing the Dominant megacolon (Dom) locus

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

7 January 2021

Epistatic relationship between Waardenburg syndrome genes MITF and PAX3

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

7 January 2021

A cascade of genes related to Waardenburg syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

7 January 2021

Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

7 January 2021

https://api.crossref.org/works/10.1034%2FJ.1600-0749.2003.00066.X

1 reference

7 January 2021

10.1034/J.1600-0749.2003.00066.X

Identifiers

DOI

1 reference

2 August 2017

1 reference