Varaico: Literature-Extracted Genetic Variants

Gene:TRPC6
Variant:p.M132T
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TRPC6

NM_004621.6:p.M132T

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

An inactivating human TRPC6 channel mutation without focal segmental glomerulosclerosis.

Batool L et al.

Cellular and Molecular Life Sciences : Cmls, 2023

Transient receptor potential canonical type 6 (TRPC6) O-GlcNAcylation at Threonine-221 plays potent role in channel regulation.

Mishra S et al.

Iscience, 2023

Sequence and Structure-Based Analyses of Human Ankyrin Repeats.

Chakrabarty B et al.

Molecules (basel, Switzerland), 2022

35056738 (PubMed )
Supplement: molecules-27-00423-s001.zip › SupplementaryFileS4.xlsx › Sheet1

Structural basis for pharmacological modulation of the TRPC6 channel.

Bai Y et al.

Elife, 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

Small Fluorescein Arsenical Hairpin-Based Förster Resonance Energy Transfer Analysis Reveals Changes in Amino- to Carboxyl-Terminal Interactions upon OAG Activation of Classical Transient Receptor Potential 6.

Fiedler S et al.

Molecular Pharmacology, 2019

In vivo selective inhibition of TRPC6 by antagonist BI 749327 ameliorates fibrosis and dysfunction in cardiac and renal disease.

Lin BL et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

Pharmacological inhibition of focal segmental glomerulosclerosis-related, gain of function mutants of TRPC6 channels by semi-synthetic derivatives of larixol.

Urban N et al.

British Journal of Pharmacology, 2017

TRPC6 G757D Loss-of-Function Mutation Associates with FSGS.

Riehle M et al.

Journal of the American Society of Nephrology : Jasn, 2016

Genetic Interactions Between TRPC6 and NPHS1 Variants Affect Posttransplant Risk of Recurrent Focal Segmental Glomerulosclerosis.

Sun ZJ et al.

American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2015

In silico analysis of functional nsSNPs in human TRPC6 gene associated with steroid resistant nephrotic syndrome.

Joshi BB et al.

Gene, 2015

TRPC6 gene promoter polymorphisms in steroid resistant nephrotic syndrome children.

Mahesh Kumar KB et al.

Journal of Nephropharmacology, 2015

Characterization of a Trpc6 Transgenic Mouse Associated with Early Onset FSGS.

Canales CP et al.

British Journal of Medicine and Medical Research, 2015

254C>G: a TRPC6 promoter variation associated with enhanced transcription and steroid-resistant nephrotic syndrome in Chinese children.

Kuang XY et al.

Pediatric Research, 2013

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

New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis.

Hofstra JM et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2013

A novel TRPC6 mutation in a family with podocytopathy and clinical variability.

Mottl AK et al.

Bmc Nephrology, 2013

Screening of ACTN4 and TRPC6 mutations in a Chinese cohort of patients with adult-onset familial focal segmental glomerulosclerosis.

Zhang Q et al.

Contributions to Nephrology, 2013

TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype.

Gigante M et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2011

Transient receptor potential genes and human inherited disease.

Everett KV

Advances in Experimental Medicine and Biology, 2011

Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.

Büscher AK et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2010

TRPC6 channels and their binding partners in podocytes: role in glomerular filtration and pathophysiology.

Dryer SE et al.

American Journal of Physiology. Renal Physiology, 2010

Renal TRPathies.

Dietrich A et al.

Journal of the American Society of Nephrology : Jasn, 2010

A novel TRPC6 mutation that causes childhood FSGS.

Heeringa SF et al.

Plos One, 2009

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