Associated Papers
Patient-specific hiPSC-Podocytes as an in vitro model of genetic FSGS.
Rose V et al.
Scientific Reports, 2025
Autosomal dominant focal segmental glomerulosclerosis by INF2 p.Arg218Trp and p.Ser186Pro mutations: three case reports and literature review.
Guo S et al.
Bmc Nephrology, 2025
Co-occurrence of Charcot-Marie-Tooth disease type 1 and glomerulosclerosis in a patient with a de novo INF2 variant.
Ding Y et al.
Bmc Nephrology, 2024
Regulation of formin INF2 and its alteration in INF2-linked inherited disorders.
Labat-de-Hoz L et al.
Cellular and Molecular Life Sciences : Cmls, 2024
INF2 mutations cause kidney disease through a gain-of-function mechanism.
Subramanian B et al.
Science Advances, 2024
Missense Mutant Gain-of-Function Causes Inverted Formin 2 (INF2)-Related Focal Segmental Glomerulosclerosis (FSGS).
Subramanian B et al.
Biorxiv : the Preprint Server for Biology, 2024
INF2 mutations in patients with a broad phenotypic spectrum of Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.
Park JH et al.
Journal of the Peripheral Nervous System : Jpns, 2023
Clinical and Pathological Heterogeneity in FSGS due to INF2 Mutations.
Morales-Alvarez MC et al.
Kidney International Reports, 2022
Role of formin INF2 in human diseases.
Zhao Y et al.
Molecular Biology Reports, 2022
Dysregulated Dynein-Mediated Trafficking of Nephrin Causes INF2-related Podocytopathy.
Sun H et al.
Journal of the American Society of Nephrology : Jasn, 2021
The formin INF2 in disease: progress from 10 years of research.
Labat-de-Hoz L et al.
Cellular and Molecular Life Sciences : Cmls, 2020
A Deregulated Stress Response Underlies Distinct INF2-Associated Disease Profiles.
Bayraktar S et al.
Journal of the American Society of Nephrology : Jasn, 2020
FSGS-Causing INF2 Mutation Impairs Cleaved INF2 N-Fragment Functions in Podocytes.
Subramanian B et al.
Journal of the American Society of Nephrology : Jasn, 2020
Genetic basis of adult-onset nephrotic syndrome and focal segmental glomerulosclerosis.
Liu J et al.
Frontiers of Medicine, 2017
Disease causing mutations in inverted formin 2 regulate its binding to G-actin, F-actin capping protein (CapZ α-1) and profilin 2.
Rollason R et al.
Bioscience Reports, 2016
Human Kidney Disease-causing INF2 Mutations Perturb Rho/Dia Signaling in the Glomerulus.
Sun H et al.
Ebiomedicine, 2014
Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy.
Caridi G et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2014
Inverted formin 2 regulates actin dynamics by antagonizing Rho/diaphanous-related formin signaling.
Sun H et al.
Journal of the American Society of Nephrology : Jasn, 2013
Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis.
Barua M et al.
Kidney International, 2013
Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis.
Gbadegesin RA et al.
Kidney International, 2012
Pathogenesis and therapy of focal segmental glomerulosclerosis: an update.
Gbadegesin R et al.
Pediatric Nephrology (berlin, Germany), 2011
Rho activation of mDia formins is modulated by an interaction with inverted formin 2 (INF2).
Sun H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011
Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis.
Boyer O et al.
Journal of the American Society of Nephrology : Jasn, 2011
Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.
Brown EJ et al.
Nature Genetics, 2010