The puzzle of TRPV4 channelopathies

scientific article

The puzzle of TRPV4 channelopathies is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

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P356DOI10.1038/EMBOR.2012.219
P932PMC publication ID3566843
P698PubMed publication ID23306656
P5875ResearchGate publication ID234104750

P50authorBernd NiliusQ823958
Thomas VoetsQ40270934
P2860cites workMutations in the TRPV4 gene are not associated with sporadic progressive muscular atrophyQ84357276
Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controlsQ84696423
OTRPC4, a nonselective cation channel that confers sensitivity to extracellular osmolarityQ24290380
Human TRPV4 channel splice variants revealed a key role of ankyrin domains in multimerization and traffickingQ24295521
Ca2+-dependent Potentiation of the Nonselective Cation Channel TRPV4 Is Mediated by a C-terminal Calmodulin Binding SiteQ24300879
An orally active TRPV4 channel blocker prevents and resolves pulmonary edema induced by heart failureQ24302551
Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutationsQ24305183
The HECT ubiquitin ligase AIP4 regulates the cell surface expression of select TRP channelsQ24316916
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2CQ24595706
Inhibition of the cation channel TRPV4 improves bladder function in mice and rats with cyclophosphamide-induced cystitisQ24614844
Vanilloid receptor-related osmotically activated channel (VR-OAC), a candidate vertebrate osmoreceptorQ24647926
Structural Analyses of the Ankyrin Repeat Domain of TRPV6 and Related TRPV Ion Channels † , ‡Q27649734
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2CQ27658802
Structural and Biochemical Consequences of Disease-Causing Mutations in the Ankyrin Repeat Domain of the Human TRPV4 ChannelQ27681184
The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulationQ28187554
PACSINs bind to the TRPV4 cation channel. PACSIN 3 modulates the subcellular localization of TRPV4Q28506144
Importance of non-selective cation channel TRPV4 interaction with cytoskeleton and their reciprocal regulations in cultured cellsQ28576188
Stimulus-specific modulation of the cation channel TRPV4 by PACSIN 3Q28586640
TRPV4 is a regulator of adipose oxidative metabolism, inflammation, and energy homeostasisQ28586703
Microfilament-associated Protein 7 Increases the Membrane Expression of Transient Receptor Potential Vanilloid 4 (TRPV4)Q28588227
The role of the membrane potential in chondrocyte volume regulationQ28741991
Structure-function relationship of the TRP channel superfamily.Q30354022
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathiesQ30495788
CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 geneQ30497795
Abnormal osmotic regulation in trpv4 -/- miceQ30501210
Cleavage of TRPM7 releases the kinase domain from the ion channel and regulates its participation in Fas-induced apoptosisQ30520617
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.Q30547553
TRPV4 forms a novel Ca2+ signaling complex with ryanodine receptors and BKCa channels.Q33226567
Identification and characterization of novel TRPV4 modulatorsQ33500893
Genetic disorders of the skeleton: a developmental approachQ33906292
Wild-type and brachyolmia-causing mutant TRPV4 channels respond directly to stretch forceQ34094517
Activation of TRPV4 channels (hVRL-2/mTRP12) by phorbol derivativesQ34112760
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.Q34191229
TRPV4 mutations in children with congenital distal spinal muscular atrophyQ34270323
TRPV4-associated skeletal dysplasiasQ34287791
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmiaQ34790129
IP3 receptor binds to and sensitizes TRPV4 channel to osmotic stimuli via a calmodulin-binding site.Q34841332
Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies.Q34948196
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasiaQ34949511
The vanilloid transient receptor potential channel TRPV4: from structure to diseaseQ35008291
TRPV4-mediated calcium influx into human bronchial epithelia upon exposure to diesel exhaust particles.Q35044737
Cell swelling, heat, and chemical agonists use distinct pathways for the activation of the cation channel TRPV4.Q35123129
Axonal neuropathy-associated TRPV4 regulates neurotrophic factor-derived axonal growth.Q35774155
Deletion of the transient receptor potential cation channel TRPV4 impairs murine bladder voidingQ36072783
Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?Q57234082
Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorderQ57915582
Muscle MRI in TRPV4-related congenital distal SMAQ58554381
Role of caveolar compartmentation in endothelium-derived hyperpolarizing factor-mediated relaxation: Ca2+ signals and gap junction function are regulated by caveolin in endothelial cellsQ80681938
OS-9 regulates the transit and polyubiquitination of TRPV4 in the endoplasmic reticulumQ81431465
Channelopathies converge on TRPV4Q82659974
TRPV4 neuropathies: calcium channel inhibition as a therapeutic target?Q83355853
Importance of transient receptor potential vanilloid 4 (TRPV4) in epidermal barrier function in human skin keratinocytesQ83531896
TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patientsQ83655641
TRP channels and painQ83830678
Calcium/calmodulin-signaling supports TRPV4 activation in osteoclasts and regulates bone massQ83856769
Exome sequencing identifies a novel TRPV4 mutation in a CMT2C familyQ36078457
Apigenin, a plant-derived flavone, activates transient receptor potential vanilloid 4 cation channel.Q36153290
Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutationQ36514432
Elementary Ca2+ signals through endothelial TRPV4 channels regulate vascular function.Q37026223
A loss-of-function nonsynonymous polymorphism in the osmoregulatory TRPV4 gene is associated with human hyponatremiaQ37310734
Molecular mechanisms of TRPV4-mediated neural signalingQ37348481
Transient receptor potential vanilloid 4: The sixth sense of the musculoskeletal system?Q37730961
TRPV4-mediated channelopathiesQ37777016
The transient receptor potential family of ion channelsQ37852820
Therapeutic targeting of TRP channels--the TR(i)P to pain reliefQ37889348
Molecular genetics and mechanisms of disease in distal hereditary motor neuropathies: insights directing future genetic studiesQ37929244
The distal hereditary motor neuropathies.Q37949568
Genetics of neuropathiesQ37977840
TRPV4 axonal neuropathy spectrum disorderQ38012267
The TRPM8 ion channel comprises direct Gq protein-activating capacityQ39372111
Mutations in TRPV4 cause an inherited arthropathy of hands and feet.Q39464645
Ligand stoichiometry of the cold- and menthol-activated channel TRPM8.Q39482079
TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies.Q39598965
Modulation of the transient receptor potential vanilloid channel TRPV4 by 4alpha-phorbol esters: a structure-activity studyQ39861832
Functional gene screening system identified TRPV4 as a regulator of chondrogenic differentiationQ40084522
Determinants of 4 alpha-phorbol sensitivity in transmembrane domains 3 and 4 of the cation channel TRPV4.Q40162647
Heat-evoked activation of TRPV4 channels in a HEK293 cell expression system and in native mouse aorta endothelial cellsQ40700786
A new ER trafficking signal regulates the subunit stoichiometry of plasma membrane K(ATP) channelsQ41644878
TRPV4 channels mediate cardiac fibroblast differentiation by integrating mechanical and soluble signalsQ41980369
Evidence TRPV4 contributes to mechanosensitive ion channels in mouse skeletal muscle fibers.Q42363286
Molecular determinants of permeation through the cation channel TRPV4.Q44047575
Impaired Pressure Sensation in Mice Lacking TRPV4Q44401201
Modulation of TRPV4 gating by intra- and extracellular Ca2+.Q44452825
Anandamide and arachidonic acid use epoxyeicosatrienoic acids to activate TRPV4 channelsQ44524443
TRPV4-mediated calcium influx regulates terminal differentiation of osteoclastsQ45749407
Role of cytochrome P450-dependent transient receptor potential V4 activation in flow-induced vasodilatationQ46444337
Modulation of the Ca2 permeable cation channel TRPV4 by cytochrome P450 epoxygenases in vascular endothelium.Q46716856
Functional expression of transient receptor potential vanilloid 4 in the mouse cochleaQ46890787
Rescue of functional DeltaF508-CFTR channels by co-expression with truncated CFTR constructs in COS-1 cellsQ47406703
Hearing impairment in TRPV4 knockout miceQ48878721
Peripheral neuropathies: Molecular diagnosis of Charcot-Marie-Tooth disease.Q50536282
PLA2 and TRPV4 channels regulate endothelial calcium in cerebral arteries.Q50716747
Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.Q51909616
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.Q54422608
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.Q55052943
A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique featuresQ56008635
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: PaQ56601579
P433issue2
P304page(s)152-163
P577publication date2013-01-11
P1433published inEMBO ReportsQ5323356
P1476titleThe puzzle of TRPV4 channelopathies
P478volume14

Reverse relations

cites work (P2860)
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Q37369327A competing hydrophobic tug on L596 to the membrane core unlatches S4-S5 linker elbow from TRP helix and allows TRPV4 channel to open
Q92690681Activation of PTEN by inhibition of TRPV4 suppresses colon cancer development
Q36627414Activation of TRPV4 Regulates Respiration through Indirect Activation of Bronchopulmonary Sensory Neurons
Q48455462Activation of Transient Receptor Potential Vanilloid 4 is Involved in Neuronal Injury in Middle Cerebral Artery Occlusion in Mice
Q34356405Angiotensin II induces membrane trafficking of natively expressed transient receptor potential vanilloid type 4 channels in hypothalamic 4B cells
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Q24601791Channelopathies
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Q52684303Cryo-EM and X-ray structures of TRPV4 reveal insight into ion permeation and gating mechanisms.
Q35086473Deciphering physiological role of the mechanosensitive TRPV4 channel in the distal nephron
Q36363007Detection of TRPV4 channel current-like activity in Fawn Hooded hypertensive (FHH) rat cerebral arterial muscle cells
Q37012415Discrete control of TRPV4 channel function in the distal nephron by protein kinases A and C.
Q48091207Endogenous TRPV4 Expression of a Hybrid Neuronal Cell Line N18D3 and Its Utilization to Find a Novel Synthetic Ligand.
Q92610238Endothelial TRPV4 channels modulate vascular tone by Ca2+ -induced Ca2+ release at inositol 1,4,5-trisphosphate receptors
Q38203224Environmental temperature impact on bone and cartilage growth
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Q30276535Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head
Q37359002High-resolution views of TRPV1 and their implications for the TRP channel superfamily
Q90213262Human mutations highlight an intersubunit cation-π bond that stabilizes the closed but not open or inactivated states of TRPV channels
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Q38788297Integrative and comparative reproductive biology: From alligators to xenobiotics
Q48097842Intrafamilial variable hearing loss in TRPV4 induced spinal muscular atrophy
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Q35212642L596-W733 bond between the start of the S4-S5 linker and the TRP box stabilizes the closed state of TRPV4 channel
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Q36738586Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy
Q90613889PIEZO1 and TRPV4, which Are Distinct Mechano-Sensors in the Osteoblastic MC3T3-E1 Cells, Modify Cell-Proliferation
Q37477352PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum
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Q33788974Patient-derived skeletal dysplasia induced pluripotent stem cells display abnormal chondrogenic marker expression and regulation by BMP2 and TGFβ1
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Q58553478Polymodal TRPV1 and TRPV4 Sensors Colocalize but Do Not Functionally Interact in a Subpopulation of Mouse Retinal Ganglion Cells
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Q46537959SMD Kozlowski type caused by p.Arg594His substitution in TRPV4 reveals abnormal ossification and notochordal remnants in discs and vertebrae
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Q88552213TRPV4 Does Not Regulate the Distal Retinal Light Response
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