A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis

scientific article

A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1126/SCIENCE.1106215
P698PubMed publication ID15879175
P5875ResearchGate publication ID7862167

P50authorMargaret A. Pericak-VanceQ28554103
Jeffery M. VanceQ30362072
Paul B. RosenbergQ37840662
P2093author name stringJames L Burchette
David N Howell
Michelle P Winn
Peter J Conlon
Shu Ying Kwan
Seth Ebersviller
Nikki Daskalakis
Kelvin L Lynn
April F Hawkins
Tony Creazzo
Merry Kay Farrington
P433issue5729
P407language of work or nameEnglishQ1860
P921main subjectfocal segmental glomerulosclerosisQ1435223
P304page(s)1801-1804
P577publication date2005-05-05
P1433published inScienceQ192864
P1476titleA mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis
P478volume308

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cites work (P2860)
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Q92631461Post-Translational Modification and Natural Mutation of TRPC Channels
Q41976212Potential and pitfalls in the genetic diagnosis of kidney diseases
Q37118487Primer: strategies for identifying genes involved in renal disease
Q34145974Prkdc participates in mitochondrial genome maintenance and prevents Adriamycin-induced nephropathy in mice.
Q31171853Prognostic value and link to atrial fibrillation of soluble Klotho and FGF23 in hemodialysis patients
Q35234337Progression of glomerular and tubular disease in pediatrics
Q47574932Prohibitin Signaling at the Kidney Filtration Barrier.
Q46311217Proline-dependent and basophilic kinases phosphorylate human TRPC6 at serine 14 to control channel activity through increased membrane expression
Q89164280Protective role of Trpc6 knockout in the progression of diabetic kidney disease
Q41197267Protein kinase C-dependent phosphorylation of transient receptor potential canonical 6 (TRPC6) on serine 448 causes channel inhibition
Q33943310Proteinuria: an enzymatic disease of the podocyte?
Q57652246Proteinuric Kidney Diseases: A Podocyte's Slit Diaphragm and Cytoskeleton Approach
Q41196444Proteomic analysis of the slit diaphragm complex: CLIC5 is a protein critical for podocyte morphology and function
Q88959338Pyrazolo[1,5-a]pyrimidine TRPC6 antagonists for the treatment of gastric cancer
Q40250028Pyrazolopyrimidines as Potent Stimulators for Transient Receptor Potential Canonical 3/6/7 Channels
Q94461672RNA-seq analysis reveals TRPC genes to impact an unexpected number of metabolic and regulatory pathways
Q33715807Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome
Q34577537Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis
Q30504293Reactive oxygen species-mediated TRPC6 protein activation in vascular myocytes, a mechanism for vasoconstrictor-regulated vascular tone
Q57825276Recent Progress in the Pathogenesis of Nephrotic Proteinuria
Q58620516Recurrent autosomal-dominant focal segmental glomerulosclerosis
Q53817240Reduced INF2 expression in nephrotic syndrome is possibly related to clinical severity of steroid resistance in children.
Q39390200Regulation of Nephrin Phosphorylation in Diabetes and Chronic Kidney Injury
Q34267211Regulation of TRPC6 Channels by Non-Steroidal Anti-Inflammatory Drugs
Q28279142Regulation of ion channels by secreted Klotho: mechanisms and implications
Q36450027Regulation of transport in the connecting tubule and cortical collecting duct
Q42254379Renal and Hematological Effects of CLCF-1, a B-Cell-Stimulating Cytokine of the IL-6 Family.
Q38203501Renal biopsy: use of biomarkers as a tool for the diagnosis of focal segmental glomerulosclerosis
Q53612706Renal complications in 6p duplication syndrome: microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS).
Q49886784Renal physiology: TRPC5 inhibition to treat progressive kidney disease.
Q80387822Renin-angiotensin axis blockade reduces proteinuria in presymptomatic patients with familial FSGS
Q39060342Renoprotection: focus on TRPV1, TRPV4, TRPC6 and TRPM2.
Q87175790Report of novel genetic variation in NPHS2 gene associated with idiopathic nephrotic syndrome in South Indian children
Q50043947Research advances in the association between transient receptor potential cation channel 6 and kidney disease
Q35543167Review series: The cell biology of renal filtration
Q37808491Role of Angiotensin II in the Development of Nephropathy and Podocytopathy of Diabetes
Q92536780Role of Podocyte Injury in Glomerulosclerosis
Q38154296Role of Rho-GTPases and their regulatory proteins in glomerular podocyte function
Q93055504Role of Transient Receptor Potential Canonical Channel 6 (TRPC6) in Diabetic Kidney Disease by Regulating Podocyte Actin Cytoskeleton Rearrangement
Q37590634Role of altered insulin signaling pathways in the pathogenesis of podocyte malfunction and microalbuminuria
Q36703547Role of renal TRP channels in physiology and pathology
Q33846395Role of transient receptor potential channel 6 in the odontogenic differentiation of human dental pulp cells
Q37207026Roles of TRP channels in the development of cardiac hypertrophy
Q39351105Roles of transient receptor potential channels in regulation of vascular and epithelial barriers
Q24304302SNF8, a member of the ESCRT-II complex, interacts with TRPC6 and enhances its channel activity
Q45746271Scavengers of reactive oxygen species, paracalcitol, RhoA, and Rac-1 inhibitors and tacrolimus inhibit angiotensin II-induced actions on glomerular permeability
Q34695450Screening for NPHS2 mutations may help predict FSGS recurrence after transplantation
Q34986719Screening for mutations in kidney-related genes using SURVEYOR nuclease for cleavage at heteroduplex mismatches.
Q38830289Second Messenger-Operated Calcium Entry Through TRPC6.
Q34963488Selective and direct inhibition of TRPC3 channels underlies biological activities of a pyrazole compound
Q37432783Sensing pressure in the cardiovascular system: Gq-coupled mechanoreceptors and TRP channels.
Q51299126Sildenafil Prevents Podocyte Injury via PPAR-γ-Mediated TRPC6 Inhibition.
Q41499068Single and Transient Ca(2+) Peaks in Podocytes do not induce Changes in Glomerular Filtration and Perfusion
Q34273590Single-channel analysis of TRPC channels in the podocytes of freshly isolated Glomeruli
Q37407881Slit diaphragm dysfunction in proteinuric states: identification of novel therapeutic targets for nephrotic syndrome
Q53546414Slit diaphragm junctional complex and regulation of the cytoskeleton.
Q55041007Slit or pore? A mutation of the ion channel TRPC6 causes FSGS.
Q37797839Specialized roles for cysteine cathepsins in health and disease.
Q39935646Specific TRPC6 channel activation, a novel approach to stimulate keratinocyte differentiation
Q36677399Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome.
Q38991259Steroid-resistant nephrotic syndrome: a persistent challenge for pediatric nephrology
Q49500608Steroid-resistant nephrotic syndrome: past and current perspectives
Q36381888Store-operated Ca2+ channel in renal microcirculation and glomeruli
Q38661145Stressed podocytes-mechanical forces, sensors, signaling and response.
Q90155507Structural basis for pharmacological modulation of the TRPC6 channel
Q88488611Structure of the receptor-activated human TRPC6 and TRPC3 ion channels
Q57450480Structure-function analyses of the ion channel TRPC3 reveal that its cytoplasmic domain allosterically modulates channel gating
Q33560817Subfractionation, characterization, and in-depth proteomic analysis of glomerular membrane vesicles in human urine
Q37616991Susceptibility genes in common complex kidney disease
Q37170764Susceptibility loci for murine HIV-associated nephropathy encode trans-regulators of podocyte gene expression
Q36294421Sustained activation of N-methyl-D-aspartate receptors in podoctyes leads to oxidative stress, mobilization of transient receptor potential canonical 6 channels, nuclear factor of activated T cells activation, and apoptotic cell death
Q42722911Synaptopodin Limits TRPC6 Podocyte Surface Expression and Attenuates Proteinuria
Q42759660TGF-β1 induces podocyte injury through Smad3-ERK-NF-κB pathway and Fyn-dependent TRPC6 phosphorylation
Q29616673TRP channels
Q38111283TRP channels
Q36217258TRP channels in disease
Q50021444TRP'ing up chronic kidney disease
Q24624455TRP-ing up heart and vessels: canonical transient receptor potential channels and cardiovascular disease
Q50999476TRPC Channels in Health and Disease.
Q92257319TRPC Channels in Proteinuric Kidney Diseases
Q38287204TRPC Channels: Prominent Candidates of Underlying Mechanism in Neuropsychiatric Diseases
Q37424405TRPC channel lipid specificity and mechanisms of lipid regulation
Q34993566TRPC channel modulation in podocytes-inching toward novel treatments for glomerular disease
Q38510489TRPC channel modulators and their potential therapeutic applications
Q89468002TRPC channels: Structure, function, regulation and recent advances in small molecular probes
Q33896913TRPC1 channels are critical for hypertrophic signaling in the heart
Q30478281TRPC3 and TRPC6 are essential for angiotensin II-induced cardiac hypertrophy
Q47735658TRPC5 Does Not Cause or Aggravate Glomerular Disease
Q40974180TRPC6 G757D Loss-of-Function Mutation Associates with FSGS.
Q37072696TRPC6 channel activation promotes neonatal glomerular mesangial cell apoptosis via calcineurin/NFAT and FasL/Fas signaling pathways.
Q28081895TRPC6 channel as an emerging determinant of the podocyte injury susceptibility in kidney diseases
Q34211578TRPC6 channels and their binding partners in podocytes: role in glomerular filtration and pathophysiology
Q34695410TRPC6 enhances angiotensin II-induced albuminuria
Q51137789TRPC6 gene promoter polymorphisms in steroid resistant nephrotic syndrome children.
Q24652809TRPC6 in glomerular health and disease: what we know and what we believe
Q57177412TRPC6 in simulated microgravity of intervertebral disc cells
Q60915176TRPC6 inactivation does not affect loss of renal function in nephrotoxic serum glomerulonephritis in rats, but reduces severity of glomerular lesions
Q89985512TRPC6 inactivation does not protect against diabetic kidney disease in streptozotocin (STZ)-treated Sprague-Dawley rats
Q28594959TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function
Q51637426TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis.
Q37139035TRPC6 mutations associated with focal segmental glomerulosclerosis cause constitutive activation of NFAT-dependent transcription.
Q35206224TRPC6 single nucleotide polymorphisms and progression of idiopathic membranous nephropathy
Q57364318TRPCs as MS Channels
Q37216903TRPMLs: in sickness and in health
Q38423897TRP_2, a lipid/trafficking domain that mediates diacylglycerol-induced vesicle fusion
Q36670208TRPpathies
Q38222944TRPs as chemosensors (ROS, RNS, RCS, gasotransmitters).
Q37089726Tackling heart failure in the twenty-first century
Q35959709Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity
Q37710561Targeting TRPC6 channels in oesophageal carcinoma growth.
Q38770231Targeting the podocyte cytoskeleton: from pathogenesis to therapy in proteinuric kidney disease
Q57172531The Calcium-Dependent Protease Calpain-1 Links TRPC6 Activity to Podocyte Injury
Q52685434The Efficacy of Puromycin and Adriamycin for Induction of Glomerular Failure in Larval Zebrafish Validated by an Assay of Glomerular Permeability Dynamics.
Q37032671The Genetics of Nephrotic Syndrome
Q27011243The Impact of Histologic Variants on FSGS Outcomes
Q93222971The Klotho proteins in health and disease
Q81826543The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy
Q33671746The Role of Angiotensin II in Glomerular Volume Dynamics and Podocyte Calcium Handling
Q92991647The Role of Glucocorticoid Receptors in Podocytes and Nephrotic Syndrome
Q38222953The TRPC family of TRP channels: roles inferred (mostly) from knockout mice and relationship to ORAI proteins
Q90468407The Use of Genomics To Drive Kidney Disease Drug Discovery and Development
Q33943247The actin cytoskeleton of kidney podocytes is a direct target of the antiproteinuric effect of cyclosporine A.
Q27006914The function of endocytosis in podocytes
Q36515022The genetic risk of kidney disease in type 2 diabetes
Q34020798The glomerulus--a view from the outside--the podocyte
Q38215903The glomerulus: the sphere of influence
Q37834456The history of TRP channels, a commentary and reflection
Q38263509The importance of podocyte adhesion for a healthy glomerulus
Q39953304The molecular and functional phenotype of glomerular podocytes reveals key features of contractile smooth muscle cells
Q53013430The novel role of TRPC6 in vitamin D ameliorating podocyte injury in STZ-induced diabetic rats.
Q37951800The podocyte as a target for therapies--new and old.
Q37949258The podocyte cytoskeleton--key to a functioning glomerulus in health and disease
Q38133715The podocyte slit diaphragm--from a thin grey line to a complex signalling hub.
Q36474870The podocyte's response to injury: role in proteinuria and glomerulosclerosis
Q51993739The podocyte-specific inactivation of Lmx1b, Ldb1 and E2a yields new insight into a transcriptional network in podocytes.
Q37436623The proteoglycan syndecan 4 regulates transient receptor potential canonical 6 channels via RhoA/Rho-associated protein kinase signaling
Q38062343The renal biopsy in the genomic era.
Q26824023The renal channelopathies
Q36467553The renin-angiotensin system in glomerular podocytes: mediator of glomerulosclerosis and link to hypertensive nephropathy
Q38572369The role of alpha-actinin-4 in human kidney disease
Q41956838The role of mechanical tension on lipid raft dependent PDGF-induced TRPC6 activation
Q36997933The role of podocytes in proteinuria
Q38100984The role of the podocyte in albumin filtration
Q37527790The role of transient receptor potential channels in kidney disease
Q42486012The serine 814 of TRPC6 is phosphorylated under unstimulated conditions
Q34105121The spectrum of MYH9-associated nephropathy
Q36780741The spectrum of podocytopathies: a unifying view of glomerular diseases.
Q37852820The transient receptor potential family of ion channels
Q34927551Therapeutic approaches to ion channel diseases
Q38261675Therapeutic target for nephrotic syndrome: Identification of novel slit diaphragm associated molecules
Q37228164Therapeutic targets in focal and segmental glomerulosclerosis
Q33872286Toward the development of podocyte-specific drugs
Q37448233Tracking the fate of glomerular epithelial cells in vivo using serial multiphoton imaging in new mouse models with fluorescent lineage tags.
Q92677820Transient Receptor Potential Channels and Endothelial Cell Calcium Signaling
Q33562143Transient receptor potential (TRP) channels: a clinical perspective
Q37405051Transient receptor potential channel 6 (TRPC6) protects podocytes during complement-mediated glomerular disease.
Q37686351Transient receptor potential channelopathies
Q36734951Transient receptor potential channels as drug targets
Q28244558Transient receptor potential channels as therapeutic targets
Q36000376Transient receptor potential channels in the vasculature
Q37720127Transient receptor proteins illuminated: current views on TRPs and disease
Q28088653Translating genetic findings in hereditary nephrotic syndrome: the missing loops
Q57049336Treatment of steroid-resistant nephrotic syndrome in the genomic era
Q33295387TrpC3 regulates hypertrophy-associated gene expression without affecting myocyte beating or cell size
Q55435365Trpc6 inactivation confers protection in a model of severe nephrosis in rats.
Q37078084Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type
Q37903259Tyrosine kinase signaling in kidney glomerular podocytes
Q42133639Tyrosine phosphorylation-dependent activation of TRPC6 regulated by PLC-γ1 and nephrin: effect of mutations associated with focal segmental glomerulosclerosis
Q38356739Understanding podocytopathy and its relevance to clinical nephrology
Q36100123Understanding the mechanisms of proteinuria: therapeutic implications
Q34055958Up-regulation of the homophilic adhesion molecule sidekick-1 in podocytes contributes to glomerulosclerosis
Q37052033Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort
Q34003179VEGF regulates TRPC6 channels in podocytes
Q36312650VEGF165b overexpression restores normal glomerular water permeability in VEGF164-overexpressing adult mice
Q38482164Variable renal phenotype in a family with an INF2 mutation
Q93074032WITHDRAWN: Local miscommunications between glomerular cells as potential therapeutic targets for crescentic glomerulonephritides
Q51732914WT1 and NPHS2 mutations in Korean children with steroid-resistant nephrotic syndrome.
Q43746028WT1 gene mutations in Chinese children with early onset nephrotic syndrome
Q26796624Wnt/β-catenin signaling and kidney fibrosis
Q85845784Wnt/β-catenin signalling pathway mediates high glucose induced cell injury through activation of TRPC6 in podocytes
Q88333477[Correlation between expressions of VEGF and TRPC6 and their roles in podocyte injury in rats with diabetic nephropathy]
Q41809171cAMP activates TRPC6 channels via the phosphatidylinositol 3-kinase (PI3K)-protein kinase B (PKB)-mitogen-activated protein kinase kinase (MEK)-ERK1/2 signaling pathway.
Q36959403miR-200 family promotes podocyte differentiation through repression of RSAD2.
Q58214831α-Actinin-4 Is Required for Normal Podocyte Adhesion

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