Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Genetics"
DOI: 10.1111/cge.14179
Abstract: Alagille syndrome (ALGS) is an autosomal dominant disorder characterized by variable abnormalities of liver, heart, face, skeleton, kidneys, vasculature and eyes. It is associated with variants in JAG1 and NOTCH2 , encoding for a NOTCH… read more here.
Keywords: functional characterization; jag1; characterization jag1; alagille syndrome ... See more keywords
5'UTR Variant in KIT Associated with White Spotting in Horses.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of equine veterinary science"
DOI: 10.2139/ssrn.4392246
Abstract: Mutations in KIT, a gene that influences melanoblast migration and pigmentation, often result in mammalian white spotting. As of February 2023, over 30 KIT variants associated with white spotting were documented in Equus caballus (horse).… read more here.
Keywords: associated white; utr variant; kit; white spotting ... See more keywords