Spotlight on spotted mice: a review of white spotting mouse mutants and associated human pigmentation disorders (Q35771686)

10 August 2017

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title

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

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10 August 2017

Laura L Baxter

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Ling Hou

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Ling Hou

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Stacie K Loftus

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Stacie K Loftus

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3

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author name string

William J Pavan

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4

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10 August 2017

1 June 2004

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Pigment Cell & Melanoma Research

10 August 2017

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10 August 2017

17

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10 August 2017

3

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10 August 2017

215-224

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The genetics of pigmentation: from fancy genes to complex traits

10 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

Homologous pigmentation mutations in human, mouse and other model organisms.

21 January 2018

1 reference

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How the zebrafish gets its stripes

21 January 2018

1 reference

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The color loci of mice--a genetic century

21 January 2018

1 reference

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Mutations in microphthalmia, the mouse homolog of the human deafness gene MITF, affect neuroepithelial and neural crest-derived melanocytes differently.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

The oculocutaneous albinism type IV gene Matp is a new marker of pigment cell precursors during mouse embryonic development

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

Pmel17 expression is Mitf-dependent and reveals cranial melanoblast migration during murine development

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.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/10.1111%2FJ.1600-0749.2004.00147.X

Mitf and Tfe3, two members of the Mitf-Tfe family of bHLH-Zip transcription factors, have important but functionally redundant roles in osteoclast development

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

Mitf expression is sufficient to direct differentiation of medaka blastula derived stem cells to melanocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.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/10.1111%2FJ.1600-0749.2004.00147.X

Melanocyte-specific expression of the human tyrosinase promoter: activation by the microphthalmia gene product and role of the initiator.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

Functional analysis of microphthalmia-associated transcription factor in pigment cell-specific transcription of the human tyrosinase family genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

Microphthalmia-associated transcription factor (MITF) is required but is not sufficient to induce the expression of melanogenic genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

Identification of Aim-1 as the underwhite mouse mutant and its transcriptional regulation by MITF

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

MLANA/MART1 and SILV/PMEL17/GP100 are transcriptionally regulated by MITF in melanocytes and melanoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.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/10.1111%2FJ.1600-0749.2004.00147.X

The Drosophila developmental gene snail encodes a protein with nucleic acid binding fingers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.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/10.1111%2FJ.1600-0749.2004.00147.X

Deletion of the SLUG (SNAI2) gene results in human piebaldism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

SLUG (SNAI2) deletions in patients with Waardenburg disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.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/10.1111%2FJ.1600-0749.2004.00147.X

Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

The transcription factor Sox10 is a key regulator of peripheral glial development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.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/10.1111%2FJ.1600-0749.2004.00147.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/10.1111%2FJ.1600-0749.2004.00147.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.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/10.1111%2FJ.1600-0749.2004.00147.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.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/10.1111%2FJ.1600-0749.2004.00147.X

The SOX10/Sox10 gene from human and mouse: sequence, expression, and transactivation by the encoded HMG domain transcription factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

The importance of having your SOX on: role of SOX10 in the development of neural crest-derived melanocytes and glia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

Rescue of neural tube defects in Pax-3-deficient embryos by p53 loss of function: implications for Pax-3- dependent development and tumorigenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

The dominant-white spotting (W) locus of the mouse encodes the c-kit proto-oncogene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

Mast cell growth factor maps near the steel locus on mouse chromosome 10 and is deleted in a number of steel alleles

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

The kit ligand: A cell surface molecule altered in steel mutant fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

The hematopoietic growth factor KL is encoded by the Sl locus and is the ligand of the c-kit receptor, the gene product of the W locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

Identification of a ligand for the c-kit proto-oncogene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

Stem cell factor is encoded at the SI locus of the mouse and is the ligand for the c-kit tyrosine kinase receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

Molecular cloning of mast cell growth factor, a hematopoietin that is active in both membrane bound and soluble forms

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

Early signaling pathways activated by c-Kit in hematopoietic cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

From white spots to stem cells: the role of the Kit receptor in mammalian development

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

W/kit gene required for interstitial cells of Cajal and for intestinal pacemaker activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

Steel mutant mice are deficient in hippocampal learning but not long-term potentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

Embryonic expression of a haematopoietic growth factor encoded by the SI locus and the ligand for c-kit

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

Mutations at the W locus affect survival of neural crest-derived melanocytes in the mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

Activation of the receptor tyrosine kinase Kit is required for the proliferation of melanoblasts in the mouse embryo.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

Lineage-specific signaling in melanocytes. C-kit stimulation recruits p300/CBP to microphthalmia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

Regulation of microphthalmia-associated transcription factor MITF protein levels by association with the ubiquitin-conjugating enzyme hUBC9

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

EDNRB/EDN3 and Hirschsprung disease type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.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/10.1111%2FJ.1600-0749.2004.00147.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/10.1111%2FJ.1600-0749.2004.00147.X

Intracellular signaling mechanisms leading to synergistic effects of endothelin-1 and stem cell factor on proliferation of cultured human melanocytes. Cross-talk via trans-activation of the tyrosine kinase c-kit receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

ABCD syndrome is caused by a homozygous mutation in the EDNRB gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

Transgenic rescue of aganglionosis and piebaldism in lethal spotted mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

The temporal requirement for endothelin receptor-B signalling during neural crest development

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

Mutational analysis of endothelin receptor b1 (rose) during neural crest and pigment pattern development in the zebrafish Danio rerio.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

A defect in a novel ADAMTS family member is the cause of the belted white-spotting mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

ADAMTS: a novel family of extracellular matrix proteases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

Cytogenetic mapping of a novel locus for type II Waardenburg syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

Neural crest-directed gene transfer demonstrates Wnt1 role in melanocyte expansion and differentiation during mouse development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

Zic2 is required for neural crest formation and hindbrain patterning during mouse development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

A late wave of melanoblast differentiation and rostrocaudal migration revealed in patch and rump-white embryos

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

The Splotch mutation interferes with muscle development in the limbs

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

Expression of the SOX10 gene during human development

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2004.00147.X

10.1111/J.1600-0749.2004.00147.X

21 January 2018

Identifiers

DOI

1 reference

10 August 2017

1 reference

PubMed ID

15140066