Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia
نویسندگان
چکیده
منابع مشابه
Gain-of-function mutations in TRPM4 cause autosomal dominant isolated cardiac conduction disease.
BACKGROUND Isolated cardiac conduction block is a relatively common condition in young and elderly populations. Genetic predisposing factors have long been suspected because of numerous familial case reports. Deciphering genetic predisposing factors of conduction blocks may give a hint at stratifying conduction block carriers in a more efficient way. METHODS AND RESULTS One Lebanese family an...
متن کاملAutosomal dominant IFIH1 gain-of-function mutations cause Aicardi-Goutières syndrome.
Aicardi-Goutières Syndrome is caused by IFIH1 mutations Oda et al.(2014) The American Journal of Human Genetics 95(1): 121-125. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling Rice et al.(2014) Nature Genetics 46(5): 503-510.
متن کاملPRPF4 mutations cause autosomal dominant retinitis pigmentosa.
Retinitis pigmentosa (RP), a disease characterized by progressive loss of photoreceptors, exhibits significant genetic heterogeneity. Several genes associated with U4/U6-U5 triple small nuclear ribonucleoprotein (tri-snRNP) complex of the spliceosome have been implicated in autosomal dominant RP (adRP). HPrp4, encoded by PRPF4, regulates the stability of U4/U6 di-snRNP, which is essential for c...
متن کاملSPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa
Retinitis pigmentosa (RP) shows progressive loss of photoreceptors involved with heterogeneous genetic background. Here, by exome sequencing and linkage analysis on a Chinese family with autosomal dominant RP, we identified a putative pathogenic variant, p.Gly97Arg, in the gene SPP2, of which expression was detected in multiple tissues including retina. The p.Gly97Arg was absent in 800 ethnical...
متن کاملMutations in LRRK2 Cause Autosomal-Dominant Parkinsonism with Pleomorphic Pathology
We have previously linked families with autosomal-dominant, late-onset parkinsonism to chromosome 12p11.2-q13.1 (PARK8). By high-resolution recombination mapping and candidate gene sequencing in 46 families, we have found six disease-segregating mutations (five missense and one putative splice site mutation) in a gene encoding a large, multifunctional protein, LRRK2 (leucine-rich repeat kinase ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Nature Genetics
سال: 2008
ISSN: 1061-4036,1546-1718
DOI: 10.1038/ng.166