(Q35196078)

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Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism

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scholarly article

1 reference

Europe PubMed Central

7 August 2017

Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism (English)

1 reference

Europe PubMed Central

7 August 2017

Richard A Spritz

1

object named as

R A Spritz

1 reference

Europe PubMed Central

7 August 2017

author name string

S A Holmes

2

1 reference

Europe PubMed Central

7 August 2017

R Ramesar

3

1 reference

Europe PubMed Central

7 August 2017

J Greenberg

4

1 reference

Europe PubMed Central

7 August 2017

D Curtis

5

1 reference

Europe PubMed Central

7 August 2017

P Beighton

6

1 reference

Europe PubMed Central

7 August 2017

language of work or name

0 references

publication date

1 November 1992

1 reference

Europe PubMed Central

7 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

7 August 2017

51

1 reference

Europe PubMed Central

7 August 2017

1058-1065

1 reference

Europe PubMed Central

7 August 2017

5

1 reference

Europe PubMed Central

7 August 2017

Easy calculations of lod scores and genetic risks on small computers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682829

13 July 2018

Blot hybridisation analysis of genomic DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682829

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682829

13 July 2018

Growth factor receptor tyrosine kinases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682829

13 July 2018

A HindIII RFLP demonstrated for the kit oncogene on chromosome 4.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682829

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682829

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682829

13 July 2018

Signal transduction by receptors with tyrosine kinase activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682829

13 July 2018

Piebaldism: an autonomous autosomal dominant entity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682829

13 July 2018

Inhibition of PDGF β Receptor Signal Transduction by Coexpression of a Truncated Receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682829

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682829

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682829

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682829

13 July 2018

An Sstl RFLP at the C-Kit oncogene locus (KIT)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682829

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682829

13 July 2018

A dominant negative mutation suppresses the function of normal epidermal growth factor receptors by heterodimerization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682829

13 July 2018

Expression of a dominant negative mutant of the FGF receptor disrupts mesoderm formation in Xenopus embryos

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682829

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682829

13 July 2018

Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682829

13 July 2018

Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682829

13 July 2018

A truncated form of fibroblast growth factor receptor 1 inhibits signal transduction by multiple types of fibroblast growth factor receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682829

13 July 2018

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682829

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682829

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682829

13 July 2018

DNA sequencing with chain-terminating inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682829

13 July 2018

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

https://pubmed.ncbi.nlm.nih.gov/1384325

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ELECTRON MICROSCOPY OF MELANOCYTES IN HUMAN PIEBALDISM

1 reference

https://pubmed.ncbi.nlm.nih.gov/1384325

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tentative assignment of piebald trait gene to chromosome band 4q12

1 reference

https://pubmed.ncbi.nlm.nih.gov/1384325

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1384325

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

7 August 2017

1 reference

Europe PubMed Central

7 August 2017

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