Associated Papers
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
Altered Endoplasmic Reticulum Integrity and Organelle Interactions in Living Cells Expressing INF2 Variants.
Tran QTH et al.
International Journal of Molecular Sciences, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Characterization of cytoskeletal and structural effects of INF2 variants causing glomerulopathy and neuropathy.
Ueda H et al.
Scientific Reports, 2023
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
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
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
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
Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.
Brown EJ et al.
Nature Genetics, 2010