Associated Papers
Diagnostic Yield of Whole-Genome Sequencing in Patients With Kidney Failure of Undetermined Etiology at Age 50 Years or Younger.
Granhøj J et al.
Kidney International Reports, 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
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
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
Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease.
Ottlewski I et al.
Kidney International, 2019
Genotype-phenotype correlation and prognostic impact in Chinese patients with Alport Syndrome.
Shang S et al.
Molecular Genetics & Genomic Medicine, 2019
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
Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons.
Roos A et al.
Journal of the Peripheral Nervous System : Jpns, 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
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
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