ArticleAmerican journal of human genetics1995
Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 111 citations in OpenAlex.
- Improving the diagnosis of renal tumours of young people through integrated molecular analysis.Journal of cancer research and clinical oncology · 2026Article
- Novel Germline KIT Variants in Families With Severe Piebaldism: Case Series and Literature Review.Journal of clinical laboratory analysis · 2024Review
- Assessment of stem cell factor expression and its c-KIT receptor in patients with vitiligo.Postepy dermatologii i alergologii · 2022Article
- Coat Color Roan Shows Association withGenes · 2020Article
- On-Target CRISPR/Cas9 Activity Can Cause Undesigned Large Deletion in Mouse Zygotes.International journal of molecular sciences · 2020Article
- KIT gene mutation causes deafness and hypopigmentation in Bama miniature pigs.American journal of translational research · 2020Article
- A novel c.2326G>A KIT pathogenic variant in piebaldism.American journal of translational research · 2020Article
- A novelJAAD case reports · 2019Article
- Development of Asymmetric Facial Depigmentation in a Patient Treated with Dasatinib with New-Onset Hypovitaminosis D: Case Report and Review of the Literature.Case reports in dermatological medicine · 2017Article
- Molecular characterization of an Italian series of sporadic GISTs.Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association · 2013Article
- Congenital disease SNPs target lineage specific structural elements in protein kinases.Proceedings of the National Academy of Sciences of the United States of America · 2008Article
- 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
- A novel mutation within the extracellular domain of TrkA causes constitutive receptor activation.Oncogene · 2001Article
- Exclusion of EDNRB and KIT as the basis for white spotting in Border Collies.Genome biology · 2000Article
- Article
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
Piebaldism is an autosomal dominant genetic disorder of pigmentation characterized by white patches of skin and hair. Melanocytes are lacking in these hypopigmented regions, the result of mutations of the KIT gene, which encodes the cell surface receptor for steel factor (SLF). We describe the analysis of 26 unrelated patients with piebaldism-like hypopigmentation--17 typical patients, 5 with atypical clinical features or family histories, and 4 with other disorders that involve white spotting. We identified novel pathologic mutations or deletions of the KIT gene in 10 (59%) of the typical patients, and in 2 (40%) of the atypical patients. Overall, we have identified pathologic KIT gene mutations in 21 (75%) of 28 unrelated patients with typical piebaldism we have studied. Of the patients without apparent KIT mutations, none have apparent abnormalities of the gene encoding SLF itself (MGF), and genetic linkage analyses in two of these families are suggestive of linkage of the piebald phenotype to KIT. Thus, most patients with typical piebaldism appear to have abnormalities of the KIT gene.
Indexed as
Identifiers
7529964PMC1801299W1530062704What OpenQuestion holds
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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.