Varaico: Literature-Extracted Genetic Variants

Gene:TRPC6
Variant:p.Q889K
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TRPC6

NM_004621.6:p.Q889K

Associated Papers

An inactivating human TRPC6 channel mutation without focal segmental glomerulosclerosis.

Batool L et al.

Cellular and Molecular Life Sciences : Cmls, 2023

Novel gain-of-function mutation of TRPC6 Q134P contributes to late onset focal segmental glomerulosclerosis in a Chinese pedigree.

Liu Z et al.

Nephrology (carlton, Vic.), 2021

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

Contribution of Coiled-Coil Assembly to Ca2+/Calmodulin-Dependent Inactivation of TRPC6 Channel and its Impacts on FSGS-Associated Phenotypes.

Polat OK et al.

Journal of the American Society of Nephrology : Jasn, 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

Genetic basis of adult-onset nephrotic syndrome and focal segmental glomerulosclerosis.

Liu J et al.

Frontiers of Medicine, 2017

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

Riehle M et al.

Journal of the American Society of Nephrology : Jasn, 2016

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

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

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

Identification and functional analysis of a novel TRPC6 mutation associated with late onset familial focal segmental glomerulosclerosis in Chinese patients.

Zhu B et al.

Mutation Research, 2009

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