Varaico: Literature-Extracted Genetic Variants

Gene:TRPC6
Variant:p.P112Q
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TRPC6

NM_004621.6:p.P112Q

Associated Papers

Delayed inactivation of TRPC6 as a determinative characteristic of FSGS-associated variants.

Okada R et al.

The Journal of Biological Chemistry, 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

In silico analysis of TRPM4 variants of unknown clinical significance.

Tarnovskaya SI et al.

Plos One, 2023

38100498 (PubMed )
Supplement: pone.0295974.s001.xlsx › Table_S1_Broad_Dataset_ST

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

Reassessing the pathogenicity of c.2858G>T(p.(G953V)) in COL4A5 Gene: report of 19 Chinese families.

Zhang Y et al.

European Journal of Human Genetics : Ejhg, 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

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

-254C>G SNP in the TRPC6 Gene Promoter Influences Its Expression via Interaction with the NF-κB Subunit RELA in Steroid-Resistant Nephrotic Syndrome Children.

Kuang X et al.

International Journal of Genomics, 2019

Molecular basis for the sensitivity of TRP channels to polyunsaturated fatty acids.

Riehle M et al.

Naunyn-schmiedeberg's Archives of Pharmacology, 2018

Structure of the receptor-activated human TRPC6 and TRPC3 ion channels.

Tang Q et al.

Cell Research, 2018

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

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

Phospholipase C epsilon (PLCε) induced TRPC6 activation: a common but redundant mechanism in primary podocytes.

Kalwa H et al.

Journal of Cellular Physiology, 2015

TRPC6 gene promoter polymorphisms in steroid resistant nephrotic syndrome children.

Mahesh Kumar KB et al.

Journal of Nephropharmacology, 2015

Therapeutic target for nephrotic syndrome: Identification of novel slit diaphragm associated molecules.

Fukusumi Y et al.

World Journal of Nephrology, 2014

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

Gain-of-function mutations in transient receptor potential C6 (TRPC6) activate extracellular signal-regulated kinases 1/2 (ERK1/2).

Chiluiza D et al.

The Journal of Biological Chemistry, 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

Regulation of TRPC6 Channels by Non-Steroidal Anti-Inflammatory Drugs.

Ilatovskaya DV et al.

Biochemistry (moscow) Supplement. Series A, Membrane and Cell Biology, 2012

TRPC6 gene variants in Turkish children with steroid-resistant nephrotic syndrome.

Mir S et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2012

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

Tyrosine phosphorylation-dependent activation of TRPC6 regulated by PLC-γ1 and nephrin: effect of mutations associated with focal segmental glomerulosclerosis.

Kanda S et al.

Molecular Biology of the Cell, 2011

NSAIDs acutely inhibit TRPC channels in freshly isolated rat glomeruli.

Ilatovskaya DV et al.

Biochemical and Biophysical Research Communications, 2011

Transient receptor potential genes and human inherited disease.

Everett KV

Advances in Experimental Medicine and Biology, 2011

Tyrosine kinase signaling in kidney glomerular podocytes.

Hattori S et al.

Journal of Signal Transduction, 2011

Molecular and genetic basis of inherited nephrotic syndrome.

Gigante M et al.

International Journal of Nephrology, 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

Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review.

Löwik MM et al.

European Journal of Pediatrics, 2009

Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology.

Machuca E et al.

Human Molecular Genetics, 2009

TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis.

Santín S et al.

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

TRPC6 mutations associated with focal segmental glomerulosclerosis cause constitutive activation of NFAT-dependent transcription.

Schlöndorff J et al.

American Journal of Physiology. Cell Physiology, 2009

Therapeutic targets in focal and segmental glomerulosclerosis.

Lavin PJ et al.

Current Opinion in Nephrology and Hypertension, 2008

2007 Young Investigator Award: TRP'ing into a new era for glomerular disease.

Winn MP

Journal of the American Society of Nephrology : Jasn, 2008

TRP channels in kidney disease.

Hsu YJ et al.

Biochimica Et Biophysica Acta, 2007

TRPC6 and FSGS: the latest TRP channelopathy.

Mukerji N et al.

Biochimica Et Biophysica Acta, 2007

TRPpathies.

Kiselyov K et al.

The Journal of Physiology, 2007

TRPC6 in glomerular health and disease: what we know and what we believe.

Schlöndorff JS et al.

Seminars in Cell & Developmental Biology, 2006

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