Associated Papers
Regulation of the formin INF2 by actin monomers and calcium/calmodulin.
Lee M et al.
The Journal of Cell Biology, 2026
Structural and functional dissection of the WH2/DAD motif of INF2, a formin linked to human inherited degenerative disorders.
Labat-de-Hoz L et al.
The Febs Journal, 2026
Genetic screening in kidney transplant candidates.
Le Moal P et al.
Clinical Kidney Journal, 2026
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
Regulation of the formin INF2 by actin monomers and calcium-calmodulin.
Lee M et al.
Biorxiv : the Preprint Server for Biology, 2025
Characterization of Monogenic Kidney Disease in Older Patients With CKD.
Elhassan EAE et al.
Kidney International Reports, 2025
Nerve Enlargement in Patients with INF2 Variants Causing Peripheral Neuropathy and Focal Segmental Glomerulosclerosis.
Huong QTT et al.
Biomedicines, 2025
Dynll1-PI31 Interaction Enhances Proteolysis Through the Proteasome, Representing a Novel Therapeutic Target for INF2-Related FSGS.
Williquett J et al.
Kidney360, 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
INF2 formin variants linked to human inherited kidney disease reprogram the transcriptome, causing mitotic chaos and cell death.
Labat-de-Hoz L et al.
Cellular and Molecular Life Sciences : Cmls, 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
Black Patients Equally Benefit From Renal Genetics Evaluation but Substantial Barriers in Access Exist.
Borden C et al.
Kidney International Reports, 2023
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
The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation.
Schrezenmeier E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Dysregulated Dynein-Mediated Trafficking of Nephrin Causes INF2-related Podocytopathy.
Sun H et al.
Journal of the American Society of Nephrology : Jasn, 2021
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
Seo GH et al.
Clinical Genetics, 2020
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
Comprehensive genetic diagnosis of Japanese patients with severe proteinuria.
Nagano C et al.
Scientific Reports, 2020
A complex containing lysine-acetylated actin inhibits the formin INF2.
A M et al.
Nature Cell Biology, 2019
Monogenic causes of chronic kidney disease in adults.
Connaughton DM et al.
Kidney International, 2019
Mutational screening of inverted formin 2 in adult-onset focal segmental glomerulosclerosis or minimal change patients from the Czech Republic.
Safarikova M et al.
Bmc Medical Genetics, 2018
Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93.
Bezdíčka M et al.
Pediatric Nephrology (berlin, Germany), 2018
Genetic basis of adult-onset nephrotic syndrome and focal segmental glomerulosclerosis.
Liu J et al.
Frontiers of Medicine, 2017
Mice with mutant Inf2 show impaired podocyte and slit diaphragm integrity in response to protamine-induced kidney injury.
Subramanian B et al.
Kidney International, 2016
Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis.
Gast C et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2016
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
The disease-associated formin INF2/EXC-6 organizes lumen and cell outgrowth during tubulogenesis by regulating F-actin and microtubule cytoskeletons.
Shaye DD et al.
Developmental Cell, 2015
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
Genetic screening in adolescents with steroid-resistant nephrotic syndrome.
Lipska BS et al.
Kidney International, 2013
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
A novel mutation, outside of the candidate region for diagnosis, in the inverted formin 2 gene can cause focal segmental glomerulosclerosis.
Sanchez-Ares 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
TRPC6 gene variants in Czech adult patients with focal segmental glomerulosclerosis and minimal change disease.
Obeidová L et al.
Folia Biologica, 2012
INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.
Boyer O et al.
The New England Journal of Medicine, 2011
Genetics: INF2 mutations often implicated in autosomal dominant focal segmental glomerulosclerosis.
Ireland R
Nature Reviews. Nephrology, 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