Associated Papers
INF2-Related Charcot-Marie-Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights.
Yano C et al.
Annals of Clinical and Translational Neurology, 2026
Exclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.
Gold JI et al.
American Journal of Human Genetics, 2025
Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.
Cakar A et al.
European Journal of Neurology, 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
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 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
Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing.
Gold J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Role of formin INF2 in human diseases.
Zhao Y et al.
Molecular Biology Reports, 2022
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
Towards a functional pathology of hereditary neuropathies.
Weis J et al.
Acta Neuropathologica, 2017
Charcot-Marie-Tooth: are you testing for proteinuria?
De Rechter S et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 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
Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy.
Rodriguez PQ et al.
Pediatric Nephrology (berlin, Germany), 2013