Associated Papers
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 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
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
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
Coordination of microtubule acetylation and the actin cytoskeleton by formins.
Fernández-Barrera J et al.
Cellular and Molecular Life Sciences : Cmls, 2018
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
Genetics of steroid-resistant nephrotic syndrome: a review of mutation spectrum and suggested approach for genetic testing.
Joshi S et al.
Acta Paediatrica (oslo, Norway : 1992), 2013
Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy.
Rodriguez PQ et al.
Pediatric Nephrology (berlin, Germany), 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