ArticleAmerican journal of human genetics1992
Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes 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. An erratum has been issued. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 94 citations in OpenAlex.
- Novel Germline KIT Variants in Families With Severe Piebaldism: Case Series and Literature Review.Journal of clinical laboratory analysis · 2024Review
- Novel pathogenic variants inFrontiers in medicine · 2022Article
- NovelAnnals of dermatology · 2017Article
- A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling.Therapeutics and clinical risk management · 2015Article
- The p53 tumor suppressor causes congenital malformations in Rpl24-deficient mice and promotes their survival.Molecular and cellular biology · 2009Article
- Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.American journal of human genetics · 2004Article
- Simultaneous targeted alteration of the tyrosinase and c-kit genes by single-stranded oligonucleotides.Gene therapy · 2002Article
- Assessment of hepatitis C virus sequence complexity by electrophoretic mobilities of both single-and double-stranded DNAs.Journal of clinical microbiology · 1998Article
- The hereditary renal cell carcinoma 3;8 translocation fuses FHIT to a patched-related gene, TRC8.Proceedings of the National Academy of Sciences of the United States of America · 1998Article
- "Mistakes happen": somatic mutation and disease.American journal of human genetics · 1997Article
- Pigmentation, pleiotropy, and genetic pathways in humans and mice.American journal of human genetics · 1995Article
- Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2).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
- Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.American journal of human genetics · 1994Article
- The molecular basis of genetic dominance.Journal of medical genetics · 1994Review
- Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).American journal of human genetics · 1993Article
- Article
Corrections and comments
- Erratum issued
Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Piebaldism is a rare autosomal dominant disorder of pigmentation, characterized by congenital patches of white skin and hair from which melanocytes are absent. We have previously shown that piebaldism can result from missense and frameshift mutations of the KIT proto-oncogene, which encodes the cellular receptor tyrosine kinase for the mast/stem cell growth factor. Here, we report two novel KIT mutations associated with human piebaldism. A proximal frameshift is associated with a mild piebald phenotype, and a splice-junction mutation is associated with a highly variable piebald phenotype. We discuss the apparent relationship between the predicted impact of specific KIT mutations on total KIT-dependent signal transduction and the severity of the resultant piebald phenotypes.
Indexed as
Identifiers
1384325PMC1682829W1580209680What 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.