Associated Papers
Genotype-phenotype correlations and clinical outcomes of genetic TRPC6 podocytopathies.
McAnallen SM et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2025
Whole-Exome Sequencing for Molecular Diagnosis of Paediatric Nephrotic Syndrome in Africa: A Call for Implementation.
Gcobo T et al.
Genes, 2025
Delayed inactivation of TRPC6 as a determinative characteristic of FSGS-associated variants.
Okada R et al.
The Journal of Biological Chemistry, 2025
Genetic testing in pediatric kidney transplant recipients to promote informed choice and improve individualized monitoring.
Feng Y et al.
Orphanet Journal of Rare Diseases, 2024
[Expansion of the genotypic and phenotypic spectrum and treatment of four children with Steroid-resistant nephrotic syndrome due to variants of TRPC6 gene].
Zhao G et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024
Necessity of genetic testing on asymptomatic proteinuria before the progression of nephrotic syndrome in children with focal segmental glomerulosclerosis.
Fujinaga S et al.
Pediatric Nephrology (berlin, Germany), 2023
Clinical, pathological, and genetic characteristics of cases with asymptomatic proteinuria not manifesting nephrotic syndrome at onset: a single-center retrospective study.
Watanabe Y et al.
Clinical and Experimental Nephrology, 2022
Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis.
Hanafusa H et al.
American Journal of Medical Genetics. Part A, 2021
[Four cases of nephrotic syndrome with TRPC6 gene variations and literature review].
Sun LW et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2021
Comprehensive genetic diagnosis of Japanese patients with severe proteinuria.
Nagano C et al.
Scientific Reports, 2020
Post-Translational Modification and Natural Mutation of TRPC Channels.
Liu X et al.
Cells, 2020
Two Children With Novel TRPC6 Spontaneous Missense Mutations and Atypical Phenotype: A Case Report and Literature Review.
Wang M et al.
Frontiers in Pediatrics, 2020
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
Bierzynska A et al.
Kidney International, 2017