Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism (Q24337545)

protein tyrosine kinase activity

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1717985

7 November 2022

2

R A Spritz

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author name string

L. B. Giebel

series ordinal

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1717985

full work available at URL

7 November 2022

language of work or name

English

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publication date

1 October 1991

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https://europepmc.org/articles/PMC52576

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1717985

https://europepmc.org/articles/PMC52576?pdf=render

7 November 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1717985

https://pnas.org/doi/pdf/10.1073/pnas.88.19.8696

7 November 2022

1 reference

Crossref

DOI

10.1073/PNAS.88.19.8696

https://api.crossref.org/works/10.1073/PNAS.88.19.8696

Proceedings of the National Academy of Sciences of the United States of America

7 November 2022

published in

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volume

88

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page(s)

8696-9

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issue

19

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cites work

A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness

1 reference

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52576

Human proto-oncogene c-kit: a new cell surface receptor tyrosine kinase for an unidentified ligand

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52576

DNA sequencing with chain-terminating inhibitors

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52576

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

19 March 2017

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Evidence for the involvement of GM-CSF and FMS in the deletion (5q) in myeloid disorders

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52576

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52576

Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52576

Dominant piebald trait in a retarded child with a reciprocal translocation and small intercalary deletion.

27 September 2017

1 reference

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

27 September 2017

1 reference

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52576

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52576

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52576

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

27 September 2017

1 reference

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Expression of c-kit gene products in known cellular targets of W mutations in normal and W mutant mice--evidence for an impaired c-kit kinase in mutant mice

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52576

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52576

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52576

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52576

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52576

Piebald trait in a retarded child with interstitial deletion of chromosome 4

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52576

HEL Cells: A New Human Erythroleukemia Cell Line with Spontaneous and Induced Globin Expression

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52576

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52576

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

29 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Piebaldness with Hirschsprung's disease

1 reference

12 December 2020

c-kit mRNA expression in human and murine hematopoietic cell lines

1 reference

12 December 2020

Chromosomal mapping of genes involved in growth control

1 reference

12 December 2020

Interstitial deletion of the proximal long arm of chromosome 4 associated with father-child incompatibility within the Gc-system: probable reduced gene dosage effect and partial piebald trait

1 reference

12 December 2020

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

1 reference

12 December 2020

Tentative assignment of piebald trait gene to chromosome band 4q12

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.88.19.8696

1 reference

4776003

ADS bibcode

1991PNAS...88.8696G

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4776003

1 reference

1 reference

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