The Molecular Basis of Human Piebaldism (Q35200359)

7 August 2017

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title

The molecular basis of human piebaldism (English)

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7 August 2017

The Molecular Basis of Human Piebaldism (English)

1 reference

https://api.crossref.org/works/10.1111/J.1600-0749.1992.TB00559.X

27 November 2023

1 reference

https://api.crossref.org/works/10.1111/J.1600-0749.1992.TB00559.X

27 November 2023

1

R A Spritz

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7 August 2017

language of work or name

English

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National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1292017

9 September 2022

publication date

1 November 1992

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full work available at URL

7 August 2017

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1600-0749.1992.tb00559.x

1 reference

https://api.crossref.org/works/10.1111/J.1600-0749.1992.TB00559.X

https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1600-0749.1992.tb00559.x

27 November 2023

1 reference

https://api.crossref.org/works/10.1111/J.1600-0749.1992.TB00559.X

Pigment Cell & Melanoma Research

27 November 2023

published in

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7 August 2017

volume

5

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7 August 2017

issue

5 Pt 2

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7 August 2017

page(s)

340-343

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A new acute transforming feline retrovirus and relationship of its oncogene v-kit with the protein kinase gene family

7 August 2017

cites work

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

21 January 2018

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

21 January 2018

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Functional inactivation of genes by dominant negative mutations

21 January 2018

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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

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Congenital Circumscribed Hypomelanosis: A Characterization Based on Electron Microscopic Study of Tuberous Sclerosis, Nevus Depigmentosus, and Piebaldism

21 January 2018

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Spontaneous malignant transformation of melanocytes explanted from Wf/Wf mice with a Kit kinase-domain mutation

21 January 2018

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Selective expression of PDGF A and its receptor during early mouse embryogenesis

21 January 2018

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Receptor tyrosine kinases: genetic evidence for their role in Drosophila and mouse development

21 January 2018

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Expression of the c-fms proto-oncogene and of the cytokine, CSF-1, during mouse embryogenesis.

21 January 2018

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Tandem linkage of human CSF-1 receptor (c-fms) and PDGF receptor genes

21 January 2018

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Mouse platelet-derived growth factor receptor alpha gene is deleted in W19H and patch mutations on chromosome 5

21 January 2018

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

21 January 2018

1 reference

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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

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ELECTRON MICROSCOPY OF MELANOCYTES IN HUMAN PIEBALDISM

21 January 2018

2

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Familial white skin spotting (piebaldness) ("partial albinism") with white forelock

27 November 2023

3

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Localization of the human c-kit protooncogene on the q11?q12 region of chromosome 4

27 November 2023

4

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The fms-like tyrosine kinase, a receptor for vascular endothelial growth factor

27 November 2023

5

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Deletion of the c-kit protooncogene in the human developmental defect piebald trait

27 November 2023

8

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Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism

27 November 2023

12

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Exon skipping by mutation of an authentic splice site of c-kit gene in W/W mouse

27 November 2023

14

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Tentative assignment of piebald trait gene to chromosome band 4q12

27 November 2023

16

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Isolation of a novel receptor cDNA establishes the existence of two PDGF receptor genes

27 November 2023

24

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Some Account of a Motley Coloured, or Pye Negro Girl and Mulatto Boy, Exhibited before the Society in the Month of May, 1784, for Their Examination, by Dr. John Morgan, from the History Given of Them by Their Owner Mons. Le Vallois, Dentist of the Ki

27 November 2023

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Molecular bases of dominant negative and loss of function mutations at the murine c-kit/white spotting locus: W37, Wv, W41 and W

27 November 2023

28

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W mutant mice with mild or severe developmental defects contain distinct point mutations in the kinase domain of the c-kit receptor

27 November 2023

31

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Signal transduction by normal isoforms and W mutant variants of the Kit receptor tyrosine kinase

27 November 2023

32

1 reference

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Isolation and chromosomal localization of a novel FMS-like tyrosine kinase gene

27 November 2023

35

1 reference

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Deletion of the KIT and PDGFRA genes in a patient with piebaldism

27 November 2023

39

1 reference

https://api.crossref.org/works/10.1111/J.1600-0749.1992.TB00559.X

Novel Mutations of the KIT (Mast/Stem Cell Growth Factor Receptor) Proto-Oncogene in Human Piebaldism

27 November 2023

42

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Platelet-derived growth factor receptor alpha-subunit gene (Pdgfra) is deleted in the mouse patch (Ph) mutation

27 November 2023

43

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https://api.crossref.org/works/10.1111/J.1600-0749.1992.TB00559.X

The Dominant W 42 Spotting Phenotype Results from a Missense Mutation in the c- kit Receptor Kinase

27 November 2023

44

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https://api.crossref.org/works/10.1111/J.1600-0749.1992.TB00559.X

Compilation of published signal sequences

27 November 2023

45

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https://api.crossref.org/works/10.1111/J.1600-0749.1992.TB00559.X

27 November 2023

Identifiers

1 reference

7 August 2017

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