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INF2 Gene - GeneCards | INF2 Protein | INF2 Antibody
https://www.genecards.org/cgi-bin/carddisp.pl?gene=INF2
WebJan 3, 2024 · INF2 (Inverted Formin 2) is a Protein Coding gene. Diseases associated with INF2 include Charcot-Marie-Tooth Disease, Dominant Intermediate E and Focal Segmental Glomerulosclerosis 5 . Among its related pathways are Nephrotic syndrome and Primary focal segmental glomerulosclerosis (FSGS) .
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INF2 Mutations in Charcot–Marie–Tooth Disease with …
https://www.nejm.org/doi/full/10.1056/NEJMoa1109122
WebFeb 29, 2024 · INF2 encodes a formin protein that interacts with the Rho-GTPase CDC42 and myelin and lymphocyte protein (MAL) that are implicated in essential steps of myelination and myelin maintenance. We...
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INF2 - Wikipedia
https://en.wikipedia.org/wiki/INF2
WebInverted formin-2 is a protein that in humans is encoded by the INF2 gene. It belongs to the protein family called the formins. It has two splice isoforms, CAAX which localizes to the endoplasmic reticulum and non-CAAX which localizes to focal adhesions and the cytoplasm with enrichment at the Golgi.
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Characterization of cytoskeletal and structural effects of INF2
https://www.nature.com/articles/s41598-023-38588-7
WebJul 25, 2023 · 1 Altmetric. Metrics. Abstract. Focal segmental glomerulosclerosis (FSGS) is a common glomerular injury leading to end-stage renal disease. Monogenic FSGS is primarily ascribed to decreased...
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Mutations in the INF2 gene account for a significant proportion of
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3647680/
WebIn this study, we expand on our initial report by mutational analysis of the DNA sequence encoding the diaphanous inhibitory domain (DID) of INF2 in a total of 215 probands from autosomal dominant FSGS families and also in 281 …
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The formin INF2 in disease: progress from 10 years of research
https://link.springer.com/article/10.1007/s00018-020-03550-7
WebMay 25, 2020 · All known INF2 gene mutations causing disease map to the exons encoding the amino-terminal domain. In this review, we summarize the structure, biochemical features and functions of INF2, conduct a systematic and comprehensive analysis of the pathogenic INF2 mutations, including a detailed study exon-by-exon of patient cases and mutations ...
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Role of formin INF2 in human diseases | Molecular Biology Reports
https://link.springer.com/article/10.1007/s11033-021-06869-x
WebOct 26, 2021 · Inverted formin 2 (INF2) is an atypical DRF that involves actin-related and microtubule-related processes [ 18, 21, 22, 23 ]. INF2 is a critical mutated gene that causes kidney disease focal segmental glomerulosclerosis (FSGS) [ 24] and FSGS-associated Charcot–Marie–Tooth disease (CMT) [ 25 ].
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Clinical and Pathological Heterogeneity in FSGS due to INF2 …
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9727514/
WebSep 9, 2022 · Introduction. Mutations in inverted-formin-2 ( INF2) are a frequent cause of inherited focal and segmental glomerulosclerosis (FSGS), accounting for approximately 9% to 17% of familial cases. 1, 2, 3 More than 50 mutations in the INF 2 gene have been described with R218Q being the most common.
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De novo INF2 mutations expand the genetic spectrum of …
https://www.neurology.org/doi/10.1212/01.wnl.0000436615.58705.c9
WebOct 30, 2013 · Identification of mutations in the inverted formin-2 ( INF2) gene in patients with Charcot-Marie-Tooth (CMT) disease combined with focal segmental glomerulosclerosis (FSGS) in order to expand the genetic and phenotypic spectrum. Methods: We sequenced INF2 in 5 patients with CMT disease and FSGS.
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Mutations in the INF2 gene account for a significant proportion of
https://www.kidney-international.org/article/S0085-2538(15)55719-0/fulltext
WebMutations in the inverted formin 2 gene ( INF2) have recently been identified as the most common cause of autosomal dominant focal and segmental glomerulosclerosis (FSGS).
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