Inf2 mutation
Web22 mrt. 2024 · Park HJ, et al., 2014, A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis. PMID: 25676889 Roos A, et al., 2015, Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in … Web22 dec. 2011 · Mutations in INF2 were recently identified in patients with autosomal dominant FSGS. INF2 encodes a formin protein that interacts with the Rho-GTPase …
Inf2 mutation
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Web20 jan. 2011 · One of the genes mutated in patients with hereditary, autosomal dominant FSGS is the INF2 gene, initially discovered by Elizabeth J. Brown and Martin R. Pollak … WebIt is of note that all the pathogenic variants of INF2 except A13T are excluded from the N-terminal extension. This mutation, which was initially assigned as a mutation responsible for focal ...
Web29 mrt. 2024 · INF2 mutations are associated with focal segmental glomerulosclerosis. this study identifed three novel mutations of INF likely efect hereditary neuropathy with … Web11 sep. 2012 · Background. Mutations in inverted formin, FH2, and WH2 domain containing (INF2) are common causes of dominant focal segmental glomerulosclerosis.INF2 …
WebMutations in the inverted formin-2 (INF2) gene are a major cause of autosomal dominant podocyte dysfunction and FSGS.11–15A subset of affected individuals also develop Charcot-Marie-Tooth (CMT) neuropathy.16–18INF2 is an atypical formin family member that is highly expressed in podocytes. WebINF2 is proteolytically cleaved, a process mediated by cathepsin proteases, liberating the N-terminal DID to function independently. Although the N-terminal region normally …
WebMutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis Moumita Barua1,3, Elizabeth J. Brown1,2,3, Victoria T. Charoonratana1,2, Giulio Genovese1, Hua Sun1 and Martin R. Pollak1 1Division of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, …
WebIn 2010, the INF2 gene was identified as a novel gene causing autosomal dominant FSGS.6 INF2 mutations are currently one of the most common causes of autosomal dominant … eastbourne houses for saleWeb3 mei 2024 · Up to 17% of all cases of autosomal-dominant FSGS are associated with mutations in the inverted formin 2 (INF2). To study the patient-specific alterations of the … cuban toast with butter caloriesWebINF2 is a member of formins that accelerate cytoplasmic filament nucleation and elongation. Formins are widely expressed proteins governing several dynamic events that require remodeling of the actin cytoskeleton such … cuban tobacco seeds for saleWebINF2 is a unique formin that can both polymerize and depolymerize actin filaments. Mutations in INF2 cause the kidney disease focal and segmental glomerulosclerosis. cuban thigh highsWeb13 sep. 2013 · INF2 is an unusual formin protein in that it accelerates both actin polymerization and depolymerization, the latter through an actin filament-severing activity. Similar to other formins, INF2 possesses a dimeric formin homology 2 (FH2) domain that binds filament barbed ends and is critical for polymerization and depolymerization activities. cuban theater in miamiWeb1 dec. 2024 · Mutations in inverted-formin-2 ( INF2) are a frequent cause of inherited focal and segmental glomerulosclerosis (FSGS), accounting for approximately 9% to 17% of … cuban toaster ovenWeb26 okt. 2024 · The structure, biochemical features, and primary pathogenic mutations of INF2 are described, which comprehensively describes the structure of the formin … eastbourne hotel breaks