Transient receptor potential channelopathies (Q37686351)

22 August 2017

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title

Transient receptor potential channelopathies (English)

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22 August 2017

1

Bernd Nilius

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22 August 2017

2

Grzegorz Owsianik

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22 August 2017

4 February 2010

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22 August 2017

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22 August 2017

460

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22 August 2017

2

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22 August 2017

437-450

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https://scigraph.springernature.com/pub.10.1007/s00424-010-0788-2

22 August 2017

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cites work

Altered functional properties of a TRPM2 variant in Guamanian ALS and PD.

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12 December 2020

Store-operated Ca2+ channels formed by TRPC1, TRPC6 and Orai1 and non-store-operated channels formed by TRPC3 are involved in the regulation of NADPH oxidase in HL-60 granulocytes

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12 December 2020

A novel mode of TRPML3 regulation by extracytosolic pH absent in the varitint-waddler phenotype

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12 December 2020

Gain-of-function haplotype in the epithelial calcium channel TRPV6 is a risk factor for renal calcium stone formation.

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12 December 2020

Association of the putative susceptibility gene, transient receptor potential protein melastatin type 2, with bipolar disorder

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12 December 2020

The A563T variation of the renal epithelial calcium channel TRPV5 among African Americans enhances calcium influx

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12 December 2020

TRP channels: a TR(I)P through a world of multifunctional cation channels

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12 December 2020

TRP channels entering the structural era.

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12 December 2020

The tissue-specific expression of TRPML2 (MCOLN-2) gene is influenced by the presence of TRPML1.

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12 December 2020

In vivo TRPC functions in the cardiopulmonary vasculature.

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12 December 2020

Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV

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12 December 2020

Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11

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12 December 2020

Recent developments in vascular endothelial cell transient receptor potential channels

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12 December 2020

Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23.

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12 December 2020

An introduction to TRP channels

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12 December 2020

TRPML and lysosomal function

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12 December 2020

Know thy neighbor: a survey of diseases and complex syndromes that map to chromosomal regions encoding TRP channels

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12 December 2020

Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model

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12 December 2020

Gain-of-function mutation in TRPML3 causes the mouse Varitint-Waddler phenotype

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12 December 2020

Autosomal dominant polycystic kidney disease: molecular genetics and pathophysiology.

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12 December 2020

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12 December 2020

A follow-up linkage study supports evidence for a bipolar affective disorder locus on chromosome 21q22

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12 December 2020

Therapeutic scope of modulation of non-voltage-gated cation channels

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12 December 2020

Molecular determinants of magnesium homeostasis: insights from human disease

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12 December 2020

Neuropathology of the Mcoln1(-/-) knockout mouse model of mucolipidosis type IV.

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12 December 2020

A novel TRPC6 mutation that causes childhood FSGS.

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12 December 2020

Ion channels: functional expression and therapeutic potential in cancer. Colloquium on Ion Channels and Cancer

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12 December 2020

A helix-breaking mutation in TRPML3 leads to constitutive activity underlying deafness in the varitint-waddler mouse

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12 December 2020

The cellular and molecular basis of store-operated calcium entry

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12 December 2020

Mucolipin 1: endocytosis and cation channel--a review

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12 December 2020

Transient receptor potential vanilloid 4 deficiency suppresses unloading-induced bone loss.

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12 December 2020

Defective planar cell polarity in polycystic kidney disease

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12 December 2020

TRPV4 channel is involved in the coupling of fluid viscosity changes to epithelial ciliary activity

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12 December 2020

Polycystins, calcium signaling, and human diseases.

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12 December 2020

A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice

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12 December 2020

Functional multimerization of mucolipin channel proteins.

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12 December 2020

TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function

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12 December 2020

TRPC6 and FSGS: the latest TRP channelopathy

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12 December 2020

TRPC3/6/7: Topical aspects of biophysics and pathophysiology.

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12 December 2020

Chaperone-mediated autophagy is defective in mucolipidosis type IV.

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12 December 2020

Vanilloid transient receptor potential cation channels: an overview

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12 December 2020

Phosphoinositide signalling and cardiac arrhythmias

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12 December 2020

The mammalian melastatin-related transient receptor potential cation channels: an overview

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12 December 2020

Role of polycystins in renal tubulogenesis

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12 December 2020

Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans

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12 December 2020

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness

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12 December 2020

TRP channels: functions and involvement in neurologic disease

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12 December 2020

TRPM1 is required for the depolarizing light response in retinal ON-bipolar cells

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12 December 2020

Physiology and pathophysiology of canonical transient receptor potential channels

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12 December 2020

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12 December 2020

TRPM2: a calcium influx pathway regulated by oxidative stress and the novel second messenger ADP-ribose

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12 December 2020

Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family

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12 December 2020

TRPC6 - a new podocyte gene involved in focal segmental glomerulosclerosis

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12 December 2020

Polycystic kidney disease: hereditary and acquired.

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12 December 2020

Isolation of ON bipolar cell genes via hrGFP-coupled cell enrichment using the mGluR6 promoter

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12 December 2020

TRPP2 and TRPV4 form a polymodal sensory channel complex

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12 December 2020

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

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12 December 2020

Darier's disease: a calcium-signaling perspective

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12 December 2020

TRPMLs: in sickness and in health

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12 December 2020

The role of TRPM channels in cell death

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12 December 2020

The vanilloid receptor TRPV1: 10 years from channel cloning to antagonist proof-of-concept

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12 December 2020

NAADP mobilizes calcium from acidic organelles through two-pore channels

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12 December 2020

Polycystin-2 regulates proliferation and branching morphogenesis in kidney epithelial cells

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12 December 2020

Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population

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12 December 2020

TRPM5 is a transient Ca2+-activated cation channel responding to rapid changes in [Ca2+]i

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12 December 2020

The two-pore channel TPCN2 mediates NAADP-dependent Ca(2+)-release from lysosomal stores

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12 December 2020

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.

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12 December 2020

Triptolide is a traditional Chinese medicine-derived inhibitor of polycystic kidney disease

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12 December 2020

The TRPM ion channel subfamily: molecular, biophysical and functional features.

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12 December 2020

Polycystins: from mechanosensation to gene regulation

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12 December 2020

Slit or pore? A mutation of the ion channel TRPC6 causes FSGS.

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12 December 2020

Sensing with TRP channels

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12 December 2020

Alpha-kinases: analysis of the family and comparison with conventional protein kinases

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12 December 2020

Subunit composition of mammalian transient receptor potential channels in living cells

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12 December 2020

Cardiac defects and renal failure in mice with targeted mutations in Pkd2

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12 December 2020

Regulation of vertebrate cellular Mg2+ homeostasis by TRPM7.

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12 December 2020

Hyperinsulinism and Beckwith-Wiedemann syndrome

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12 December 2020

Formation of novel TRPC channels by complex subunit interactions in embryonic brain

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12 December 2020

[TRP channels and mechanical stress]

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12 December 2020

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

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12 December 2020

TRP channels in endothelial function and dysfunction

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12 December 2020

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

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12 December 2020

TRP channels in disease

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12 December 2020

Cation channels of the transient receptor potential superfamily: their role in physiological and pathophysiological processes of smooth muscle cells.

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12 December 2020

Regulation of canonical transient receptor potential (TRPC) channel function by diacylglycerol and protein kinase C.

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12 December 2020

Melastatin expression and prognosis in cutaneous malignant melanoma

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12 December 2020

Calcium absorption across epithelia

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12 December 2020

A possible vulnerability locus for bipolar affective disorder on chromosome 21q22.3.

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12 December 2020

Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia

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12 December 2020

Systemic activation of the transient receptor potential vanilloid subtype 4 channel causes endothelial failure and circulatory collapse: Part 2.

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12 December 2020

A loss-of-function nonsynonymous polymorphism in the osmoregulatory TRPV4 gene is associated with human hyponatremia

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12 December 2020

TRP-ML1 regulates lysosomal pH and acidic lysosomal lipid hydrolytic activity

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12 December 2020

Drugs and their molecular targets: an updated overview

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12 December 2020

TRPM7 and TRPM2-Candidate susceptibility genes for Western Pacific ALS and PD?

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12 December 2020

Inhibition effect of arachidonic acid on hypoxia-induced [Ca(2+)](i) elevation in PC12 cells and human pulmonary artery smooth muscle cells

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12 December 2020

The pathogenesis of autosomal dominant polycystic kidney disease: an update

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12 December 2020

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

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12 December 2020

Direct activation of human TRPC6 and TRPC3 channels by diacylglycerol

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12 December 2020

The varitint-waddler (Va) deafness mutation in TRPML3 generates constitutive, inward rectifying currents and causes cell degeneration

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12 December 2020

Activating mutation in a mucolipin transient receptor potential channel leads to melanocyte loss in varitint-waddler mice.

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12 December 2020

TRP-PLIK, a bifunctional protein with kinase and ion channel activities

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12 December 2020

Parallel selection on TRPV6 in human populations

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12 December 2020

TRP channels: an overview

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12 December 2020

Determinants of 4 alpha-phorbol sensitivity in transmembrane domains 3 and 4 of the cation channel TRPV4.

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12 December 2020

The Ca(2+) channel TRPML3 regulates membrane trafficking and autophagy

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12 December 2020

Neurobiology of TRPC2: from gene to behavior

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12 December 2020

Cellular and molecular function of mucolipins (TRPML) and polycystin 2 (TRPP2).

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12 December 2020

Overexpression of PKD2 in the mouse is associated with renal tubulopathy

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12 December 2020

Polycystins: polymodal receptor/ion-channel cellular sensors

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12 December 2020

Subcellular localization and trafficking of polycystins

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12 December 2020

Insights into the molecular nature of magnesium homeostasis

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12 December 2020

K+ channel expression in human breast cancer cells: involvement in cell cycle regulation and carcinogenesis

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12 December 2020

Mechanosensitive channels in striated muscle and the cardiovascular system: not quite a stretch anymore.

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12 December 2020

A TRPM7 variant shows altered sensitivity to magnesium that may contribute to the pathogenesis of two Guamanian neurodegenerative disorders

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12 December 2020

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12 December 2020

TRP-ML1 is a lysosomal monovalent cation channel that undergoes proteolytic cleavage

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12 December 2020

Structure-function relationship of the TRP channel superfamily.

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12 December 2020

TRPP2 and autosomal dominant polycystic kidney disease

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12 December 2020

Lack of pendrin HCO3- transport elevates vestibular endolymphatic [Ca2+] by inhibition of acid-sensitive TRPV5 and TRPV6 channels

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12 December 2020

A functional single-nucleotide polymorphism in the TRPC6 gene promoter associated with idiopathic pulmonary arterial hypertension

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12 December 2020

Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus)

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12 December 2020

A pathogenic C terminus-truncated polycystin-2 mutant enhances receptor-activated Ca2+ entry via association with TRPC3 and TRPC7

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12 December 2020

TRPC1 and TRPC5 form a novel cation channel in mammalian brain.

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12 December 2020

Upregulation of TRPC1 in the development of cardiac hypertrophy

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12 December 2020

Autoantibodies against TRPC3 and ryanodine receptor in myasthenia gravis

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12 December 2020

Mutations in TRPM1 are a common cause of complete congenital stationary night blindness

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12 December 2020

Functional links between mucolipin-1 and Ca2+-dependent membrane trafficking in mucolipidosis IV

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12 December 2020

Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel.

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12 December 2020

Polycystic kidney disease

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12 December 2020

ALS and PDC of Guam: forty-year follow-up

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12 December 2020

N-((1S)-1- -3-hydroxypropanoyl)-1-piperazinyl]carbonyl}-3-methylbutyl)-1-benzothiophene-2-carboxamide (GSK1016790A), a Novel and Potent Transient Receptor Potential Vanilloid 4 Channel Agonist Induces Urinary Bladder Contraction and Hyperactivity: Pa

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12 December 2020

Essential role for TRPM6 in epithelial magnesium transport and body magnesium homeostasis

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12 December 2020

TRP channels in disease

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12 December 2020

Identification and characterization of MTR1, a novel gene with homology to melastatin (MLSN1) and the trp gene family located in the BWS-WT2 critical region on chromosome 11p15.5 and showing allele-specific expression

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12 December 2020

Non-selective cation channel blockers: potential use in nervous system basic research and therapeutics

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12 December 2020

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

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12 December 2020

Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia

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12 December 2020

Permeation and selectivity of TRP channels

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12 December 2020

Hypomagnesemia with secondary hypocalcemia due to a missense mutation in the putative pore-forming region of TRPM6.

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12 December 2020

Polycystins: inhibiting the inhibitors.

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12 December 2020

Amyotrophic lateral sclerosis and parkinsonism-dementia complex of Guam: changing incidence rates during the past 60 years

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12 December 2020

Down-regulation of the novel gene melastatin correlates with potential for melanoma metastasis

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12 December 2020

The molecular basis of mucolipidosis type IV.

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12 December 2020

Isoform-specific inhibition of TRPC4 channel by phosphatidylinositol 4,5-bisphosphate

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12 December 2020

Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel

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12 December 2020

The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel

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12 December 2020

TRPM2 and TRPM7: channel/enzyme fusions to generate novel intracellular sensors

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12 December 2020

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

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12 December 2020

Polycystin-2 is an intracellular calcium release channel

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12 December 2020

The role of transient receptor potential channels in kidney disease

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12 December 2020

Lysosomal localization of TRPML3 depends on TRPML2 and the mucolipidosis-associated protein TRPML1

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12 December 2020

TRP channels as drug targets

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12 December 2020

Polycystin-1 and polycystin-2 regulate the cell cycle through the helix-loop-helix inhibitor Id2

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12 December 2020

Transcriptional regulation of the melanoma prognostic marker melastatin (TRPM1) by MITF in melanocytes and melanoma

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12 December 2020

Mucolipin 1 channel activity is regulated by protein kinase A-mediated phosphorylation

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12 December 2020

TRPM6 forms the Mg2+ influx channel involved in intestinal and renal Mg2+ absorption

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12 December 2020

Selective association of TRPC channel subunits in rat brain synaptosomes

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12 December 2020

Membrane dynamics and the biogenesis of lysosomes

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12 December 2020

Unexpected role of TRPC6 channel in familial nephrotic syndrome: does it have clinical implications?

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12 December 2020

TRP channels in hypertension

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12 December 2020

Transient receptor potential channels as drug targets

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12 December 2020

Regulation of the murine TRPP3 channel by voltage, pH, and changes in cell volume

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12 December 2020

TRP-ML1 functions as a lysosomal NAADP-sensitive Ca2+ release channel in coronary arterial myocytes

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12 December 2020

The vanilloid transient receptor potential channel TRPV4: from structure to disease

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12 December 2020

Mucolipidosis type IV.

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12 December 2020

Activating mutations of the TRPML1 channel revealed by proline-scanning mutagenesis

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12 December 2020

Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I

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12 December 2020

Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia

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12 December 2020

Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice

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12 December 2020

TRPM2 variants and bipolar disorder risk: confirmation in a family-based association study.

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12 December 2020

Abnormal transport along the lysosomal pathway in mucolipidosis, type IV disease

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12 December 2020

A road map for TR(I)Ps

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12 December 2020

Mucolipidosis type IV: the importance of functional lysosomes for efficient autophagy

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12 December 2020

Channelopathies converge on TRPV4

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12 December 2020

The acid test: the discovery of two-pore channels (TPCs) as NAADP-gated endolysosomal Ca(2+) release channels

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12 December 2020

The varitint-waddler mouse phenotypes and the TRPML3 ion channel mutation: cause and consequence

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12 December 2020

Transient receptor potential cation channels in disease

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12 December 2020

10.1007/S00424-010-0788-2

Identifiers

DOI

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22 August 2017

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PubMed ID

20127491