Deletion of the c-kit protooncogene in the human developmental defect piebald trait. - Wikidata - wikimedia - TriplyDB

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

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

http://www.wikidata.org/entity/Q37637333

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Allelic heterogeneity at the equine KIT locus in dominant white (W) horses The "domestication syndrome" in mammals: a unified explanation based on neural crest cell behavior and genetics Socs1 binds to multiple signalling proteins and suppresses steel factor-dependent proliferation Unexpectedly high allelic diversity at the KIT locus causing dominant white color in the domestic pig Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene The melanocyte lineage in development and disease Using regulatory and epistatic networks to extend the findings of a genome scan: identifying the gene drivers of pigmentation in merino sheep Pigeonetics takes flight: Evolution, development, and genetics of intraspecific variation Absence of mutations in the HoxA10, HoxA11 and HoxD11 nucleotide coding sequences in thrombocytopenia with absent radius syndrome Steel factor induces tyrosine phosphorylation of CRKL and binding of CRKL to a complex containing c-kit, phosphatidylinositol 3-kinase, and p120(CBL)Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2 KIT is required for hepatic function during mouse post-natal development.The expression of cytokine and cytokine receptor genes in long-term bone marrow culture in congenital and acquired bone marrow hypoplasias.Loss of AP-2 results in downregulation of c-KIT and enhancement of melanoma tumorigenicity and metastasis.Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria.Genetics of Cutaneous Malignant Melanoma.C-KIT signaling depends on microphthalmia-associated transcription factor for effects on cell proliferation From melanocyte to metastatic malignant melanoma Efficient high-resolution genetic mapping of mouse interspersed repetitive sequence PCR products, toward integrated genetic and physical mapping of the mouse genome.YY1 regulates melanocyte development and function by cooperating with MITF.Endogenous retrovirus insertion in the KIT oncogene determines white and white spotting in domestic cats The genetic inheritance of the blue-eyed white phenotype in alpacas (Vicugna pacos).An equine chromosome 3 inversion is associated with the tobiano spotting pattern in German horse breeds.Molecular basis for the dominant white phenotype in the domestic pig.The KIT gene is associated with the english spotting coat color locus and congenital megacolon in Checkered Giant rabbits (Oryctolagus cuniculus).Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism.Structural analysis of chromosomal rearrangements associated with the developmental mutations Ph, W19H, and Rw on mouse chromosome 5.Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism Shared phenotypes among segmental progeroid syndromes suggest underlying pathways of aging.AHR promoter variant modulates its transcription and downstream effectors by allele-specific AHR-SP1 interaction functioning as a genetic marker for vitiligo Role of the KIT protooncogene in normal and malignant human hematopoiesis Transplantation of male germ line stem cells restores fertility in infertile mice Melanocyte receptors: clinical implications and therapeutic relevance.Steel mutant mice are deficient in hippocampal learning but not long-term potentiation.Piebaldism.De novo pericentric inversion of chromosome 4, inv(4)(p16q12) in a boy with piebaldism and mental retardation.The strength and cooperativity of KIT ectodomain contacts determine normal ligand-dependent stimulation or oncogenic activation in cancer.From fish bowl to bedside: The power of zebrafish to unravel melanoma pathogenesis and discover new therapeutics.Microarray profiling of gene expression in human keratinocytes suggests a new protective activity against UV-induced DNA damage for a compound previously known to interact with SCF-KIT signalling pathway.MicroRNAs as molecular classifiers for cancer.

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

http://www.wikidata.org/entity/Q37637333

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on December 1991

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

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

@en

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

@nl

type

label

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

@en

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

@nl

prefLabel

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

@en

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

@nl

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PNAS.88.23.10885

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

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

@en

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Fleischman RA

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Saltman DL

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Stastny V

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Zneimer S

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P2860

T-cell growth factor: complete nucleotide sequence and organization of the gene in normal and malignant cells

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

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

Molecular characterization and chromosomal mapping of melanoma growth stimulatory activity, a growth factor structurally related to beta-thromboglobulin

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

Homozygosity in piebald trait

Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4.

Functional diversity of gro gene expression in human fibroblasts and mammary epithelial cells.

Analysis of pleiotropism at the dominant white-spotting (W) locus of the house mouse: a description of ten new W alleles

The proto-oncogene c-kit encoding a transmembrane tyrosine kinase receptor maps to the mouse W locus.

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10885-10889

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scholarly article

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10.1073/PNAS.88.23.10885

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23

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88

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21434337

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1720553

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53036

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