Associated Papers
Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome.
Schneider R et al.
Genes & Diseases, 2025
39584075 (PubMed )
Supplement: mmc2.pdf
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
39586895 (PubMed )
Supplement: 18_2024_5499_MOESM3_ESM.xlsx › Table-S1
A Deregulated Stress Response Underlies Distinct INF2-Associated Disease Profiles.
Bayraktar S et al.
Journal of the American Society of Nephrology : Jasn, 2020
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
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