Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis
Sign Up to like & getrecommendations! Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24315
Abstract: The recent discovery of TRPV6 as a pancreatitis susceptibility gene served to identify a novel mechanism of chronic pancreatitis (CP) due to Ca2+ dysregulation. Herein, we analyzed TRPV6 in 81 probands with hereditary CP (HCP),… read more here.
Keywords: functionally deficient; trpv6 variants; deficient trpv6; trpv6 ... See more keywords
Functionally deficient UBOX5 variants and primary angle-closure glaucoma
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DOI: 10.1038/s41467-025-62775-x
Abstract: Primary angle-closure glaucoma is a major cause of irreversible blindness worldwide afflicting >20 million people. Through whole exome sequencing, we analysed the association between gene-based burden of rare, protein-altering genetic variants and disease risk in 4,667… read more here.
Keywords: functionally deficient; angle closure; closure glaucoma; primary angle ... See more keywords
Characterization of functionally deficient SIM2 variants found in patients with neurological phenotypes
Sign Up to like & getrecommendations! Published in 2022 at "Biochemical Journal"
DOI: 10.1042/bcj20220209
Abstract: Single-minded 2 (SIM2) is a neuron-enriched basic Helix–Loop–Helix/PER–ARNT–SIM (bHLH/PAS) transcription factor essential for mammalian survival. SIM2 is located within the Down syndrome critical region (DSCR) of chromosome 21, and manipulation in mouse models suggests Sim2… read more here.
Keywords: sim2 variants; functionally deficient; found patients; characterization functionally ... See more keywords