Whole genome sequencing reveals a novel deletion variant in the KIT gene in horses with white spotted coat colour phenotypes.
Sign Up to like & getrecommendations! Published in 2017 at "Animal genetics"
DOI: 10.1111/age.12556
Abstract: White spotting phenotypes in horses can range in severity from the common white markings up to completely white horses. EDNRB, KIT, MITF, PAX3 and TRPM1 represent known candidate genes for such phenotypes in horses. For… read more here.
Keywords: deletion variant; kit; kit gene; whole genome ... See more keywords
Gastrointestinal stromal tumors with Kit gene mutation in 4 guinea pigs (Cavia porcellus)
Sign Up to like & getrecommendations! Published in 2022 at "Veterinary Pathology"
DOI: 10.1177/03009858221087630
Abstract: Gastrointestinal stromal tumors (GISTs) have been rarely reported in guinea pigs. We aimed to characterize the clinical and pathological features of GISTs in 4 guinea pigs and investigate the presence of mutations in exon 11… read more here.
Keywords: stromal tumors; guinea pigs; tumors kit; kit gene ... See more keywords
No detection of c-kit gene mutations in exons 9, 11, 13 and 17 and low CD117 expression in plaque-stage mycosis fungoides.
Sign Up to like & getrecommendations! Published in 2018 at "Anais brasileiros de dermatologia"
DOI: 10.1590/abd1806-4841.20187930
Abstract: The growth factor receptor c-kit (CD117) is expressed in immature T-cells and in some advanced forms of mycosis fungoides. c-kit gene mutation results in unrestricted neoplastic proliferation. We aimed to detect by PCR the most… read more here.
Keywords: plaque stage; stage; kit gene; cd117 expression ... See more keywords
Analysis of KIT gene mutations in patients with melanoma of the head and neck mucosa: a retrospective clinical report
Sign Up to like & getrecommendations! Published in 2018 at "Oncotarget"
DOI: 10.18632/oncotarget.25094
Abstract: Unlike their cutaneous counterparts, head and neck mucosal malignant melanomas (HNMM) are more aggressive, and their prognostic markers have not been fully elucidated. This study, comprising 28 patients with HNMM, aimed to establish the relationship… read more here.
Keywords: analysis kit; gene mutations; kit gene; mutations patients ... See more keywords
Functional Analysis of KIT Gene Structural Mutations Causing the Porcine Dominant White Phenotype Using Genome Edited Mouse Models
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2020.00138
Abstract: The dominant white phenotype in pigs is thought to be mainly due to a structural mutation in the KIT gene, a splice mutation (G > A) at the first base in intron 17 which leads… read more here.
Keywords: kit gene; dominant white; kit; white phenotype ... See more keywords
Novel pathogenic variants in KIT gene in three Chinese piebaldism patients
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Medicine"
DOI: 10.3389/fmed.2022.1040747
Abstract: Background Piebaldism is a rare autosomal dominant disease, and roughly 75% patients had KIT gene mutations. Up to date, approximately 90 KIT mutations causing piebaldism were reported. Methods To identify KIT gene mutations in three… read more here.
Keywords: pathogenic variants; novel pathogenic; piebaldism; piebaldism patients ... See more keywords