ArticleAmerican journal of human genetics1992
Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism.
Article in American journal of human genetics, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 159 citations in OpenAlex.
- Vitiligo and Its Mimics in Childhood: A Diagnostic Framework for Hypopigmented Disorders.Annals of dermatology · 2026Review
- A Review of the Clinical Features and Management of Systemic Congenital Mastocytosis through the Presentation of An Unusual Prenatal-Onset Case.Current oncology (Toronto, Ont.) · 2023Review
- KIT gene mutation causes deafness and hypopigmentation in Bama miniature pigs.American journal of translational research · 2020Article
- Article
- Human neural crest stem cells derived from human ESCs and induced pluripotent stem cells: induction, maintenance, and differentiation into functional schwann cells.Stem cells translational medicine · 2012Article
- Article
- Targeting KIT in melanoma: a paradigm of molecular medicine and targeted therapeutics.Biochemical pharmacology · 2010Review
- Article
- KIT is required for hepatic function during mouse post-natal development.BMC developmental biology · 2007Article
- Biphasic expression of two paracrine melanogenic cytokines, stem cell factor and endothelin-1, in ultraviolet B-induced human melanogenesis.The American journal of pathology · 2004Article
- Simultaneous targeted alteration of the tyrosinase and c-kit genes by single-stranded oligonucleotides.Gene therapy · 2002Article
- Investigation of KIT gene mutations in women with 46,XX spontaneous premature ovarian failure.BMC women's health · 2002Article
- Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis.Proceedings of the National Academy of Sciences of the United States of America · 1999Article
- Interstitial deletion of bands 4q12-->q13.1: case report and review of proximal 4q deletions.Journal of medical genetics · 1997Review
- Subregional mapping of the human gonadotropin-releasing hormone receptor (GnRH-R) gene to 4q between the markers D4S392 and D4S409.Human genetics · 1995Article
- Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q.Journal of medical genetics · 1995Article
- Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function.American journal of human genetics · 1995Article
- Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism.American journal of human genetics · 1995Article
- Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B.Proceedings of the National Academy of Sciences of the United States of America · 1994Article
- Mouse homologues of human hereditary disease.Journal of medical genetics · 1994Review
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Piebaldism is an autosomal dominant disorder of melanocyte development and is characterized by congenital white patches of skin and hair from which melanocytes are completely absent. A similar disorder of the mouse, "dominant white spotting" (W), results from mutations of the c-kit proto-oncogene, which encodes the cellular tyrosine kinase receptor for the mast/stem cell growth factor. We have identified c-kit gene mutations in three patients with piebaldism. A missense substitution (Phe----Leu) at codon 584, within the tyrosine kinase domain, is associated with a severe piebald phenotype, whereas two different frameshifts, within codons 561 and 642, are both associated with a variable and relatively mild piebald phenotype. This is consistent with a possible "dominant negative" effect of missense c-kit polypeptides on the function of the dimeric receptor.
Indexed as
Identifiers
1370874PMC1682440W1560994819What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.