Associated Papers
Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.
Giovanella S et al.
Clinical Genetics, 2026
Genetic Testing in Biopsy-Confirmed Kidney Disease.
Schmidt IM et al.
Kidney Medicine, 2025
In steroid-resistant nephrotic syndrome that meets the strict definition, monogenic variants are less common than expected.
Ichikawa Y et al.
Pediatric Nephrology (berlin, Germany), 2024
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
Characterization of cytoskeletal and structural effects of INF2 variants causing glomerulopathy and neuropathy.
Ueda H et al.
Scientific 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 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
Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.
Nishimura T et al.
Frontiers in Oncology, 2020
Identification of genetic causes for sporadic steroid-resistant nephrotic syndrome in adults.
Gribouval O et al.
Kidney International, 2018
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
Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort.
Sampson MG et al.
Journal of the American Society of Nephrology : Jasn, 2016
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.
Bullich G et al.
European Journal of Human Genetics : Ejhg, 2015
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
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
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
Variable renal phenotype in a family with an INF2 mutation.
Lee HK et al.
Pediatric Nephrology (berlin, Germany), 2011
Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.
Brown EJ et al.
Nature Genetics, 2010