Increased basal activity is a key determinant in the severity of human skeletal dysplasia caused by TRPV4 mutations

scientific article

Increased basal activity is a key determinant in the severity of human skeletal dysplasia caused by TRPV4 mutations is …
instance of (P31):
scholarly articleQ13442814

External links are
P819ADS bibcode2011PLoSO...619533L
P356DOI10.1371/JOURNAL.PONE.0019533
P932PMC publication ID3088684
P698PubMed publication ID21573172
P5875ResearchGate publication ID51127658

P50authorChing KungQ123764436
P2093author name stringZhenwei Su
Stephen Loukin
P2860cites workDominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.Q51909616
Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural history.Q51977340
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
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
Renal OsteodystrophyQ58085748
Revisiting metatropic dysplasia: Presentation of a series of 19 novel patients and review of the literatureQ63681407
Metatropic dysplasia and its variants (analysis of 14 cases)Q67988125
Yeast gain-of-function mutations reveal structure-function relationships conserved among different subfamilies of transient receptor potential channelsQ36288747
IP3 sensitizes TRPV4 channel to the mechano- and osmotransducing messenger 5'-6'-epoxyeicosatrienoic acidQ36527219
A yeast genetic screen reveals a critical role for the pore helix domain in TRP channel gatingQ36710217
Modulation of transient receptor potential Vanilloid 4-mediated membrane currents and synaptic transmission by protein kinase C.Q37116100
Bone remodeling during fracture repair: The cellular picture.Q37240518
A loss-of-function nonsynonymous polymorphism in the osmoregulatory TRPV4 gene is associated with human hyponatremiaQ37310734
Molecular mechanisms of TRPV4-mediated neural signalingQ37348481
Activation of the TRPV4 ion channel is enhanced by phosphorylation.Q37459860
Brachyolmia: radiographic and genetic evidence of heterogeneityQ38676414
Modulation of the transient receptor potential vanilloid channel TRPV4 by 4alpha-phorbol esters: a structure-activity studyQ39861832
Tyrosine phosphorylation modulates the activity of TRPV4 in response to defined stimuli.Q39912354
Functional gene screening system identified TRPV4 as a regulator of chondrogenic differentiationQ40084522
Temperature-modulated diversity of TRPV4 channel gating: activation by physical stresses and phorbol ester derivatives through protein kinase C-dependent and -independent pathwaysQ40648956
Heat-evoked activation of TRPV4 channels in a HEK293 cell expression system and in native mouse aorta endothelial cellsQ40700786
Transient receptor potential vanilloid 4 deficiency suppresses unloading-induced bone loss.Q42817046
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
Association of TRPV4 gene polymorphisms with chronic obstructive pulmonary diseaseQ46083919
Novel mechanism of massive photoreceptor degeneration caused by mutations in the trp gene of Drosophila.Q47070695
OTRPC4, a nonselective cation channel that confers sensitivity to extracellular osmolarityQ24290380
Ca2+-dependent Potentiation of the Nonselective Cation Channel TRPV4 Is Mediated by a C-terminal Calmodulin Binding SiteQ24300879
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2CQ24595706
Vanilloid receptor-related osmotically activated channel (VR-OAC), a candidate vertebrate osmoreceptorQ24647926
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2CQ27658802
TRPV4 channels mediate cyclic strain-induced endothelial cell reorientation through integrin-to-integrin signalingQ30438420
TRPV4 channel participates in receptor-operated calcium entry and ciliary beat frequency regulation in mouse airway epithelial cellsQ30483343
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.Q30547553
Bisandrographolide from Andrographis paniculata activates TRPV4 channels.Q30821637
Functional interaction of the cation channel transient receptor potential vanilloid 4 (TRPV4) and actin in volume regulationQ33386567
Global comparative transcriptome analysis of cartilage formation in vivoQ33416200
Interdomain interactions control Ca2+-dependent potentiation in the cation channel TRPV4Q33582066
Forward genetic analysis reveals multiple gating mechanisms of TRPV4Q33924287
Wild-type and brachyolmia-causing mutant TRPV4 channels respond directly to stretch forceQ34094517
Activation of TRPV4 channels (hVRL-2/mTRP12) by phorbol derivativesQ34112760
TRPV4-pathy, a novel channelopathy affecting diverse systemsQ34117611
Chondroprotective role of the osmotically sensitive ion channel transient receptor potential vanilloid 4: age- and sex-dependent progression of osteoarthritis in Trpv4-deficient mice.Q34522629
Kozlowski type spondylometaphyseal dysplasia: a case report with literature reviewQ34568102
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
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasiaQ34949511
Cell swelling, heat, and chemical agonists use distinct pathways for the activation of the cation channel TRPV4.Q35123129
Activating mutation in a mucolipin transient receptor potential channel leads to melanocyte loss in varitint-waddler mice.Q36157007
A helix-breaking mutation in TRPML3 leads to constitutive activity underlying deafness in the varitint-waddler mouseQ36288732
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue5
P407language of work or nameEnglishQ1860
P304page(s)e19533
P577publication date2011-05-05
P1433published inPLOS OneQ564954
P1476titleIncreased basal activity is a key determinant in the severity of human skeletal dysplasia caused by TRPV4 mutations
P478volume6

Reverse relations

cites work (P2860)
Q36760317A TRPV4 channel C-terminal folding recognition domain critical for trafficking and function.
Q35910190A channelopathy mechanism revealed by direct calmodulin activation of TrpV4.
Q37369327A competing hydrophobic tug on L596 to the membrane core unlatches S4-S5 linker elbow from TRP helix and allows TRPV4 channel to open
Q52162409A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia
Q92698690Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant
Q28658571Feeling the hidden mechanical forces in lipid bilayer is an original sense
Q57234082Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?
Q33613251Follistatin in chondrocytes: the link between TRPV4 channelopathies and skeletal malformations
Q30276535Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head
Q36514432Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation
Q35212642L596-W733 bond between the start of the S4-S5 linker and the TRP box stabilizes the closed state of TRPV4 channel
Q39464645Mutations in TRPV4 cause an inherited arthropathy of hands and feet.
Q90422145Mutations in calmodulin-binding domains of TRPV4/6 channels confer invasive properties to colon adenocarcinoma cells
Q36738586Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy
Q33788974Patient-derived skeletal dysplasia induced pluripotent stem cells display abnormal chondrogenic marker expression and regulation by BMP2 and TGFβ1
Q50102613Sensing and regulation of cell volume - we know so much and yet understand so little: TRPV4 as a sensor of volume changes but possibly without a volume-regulatory role?
Q27681184Structural and Biochemical Consequences of Disease-Causing Mutations in the Ankyrin Repeat Domain of the Human TRPV4 Channel
Q27680759Structure of the TRPV1 ion channel determined by electron cryo-microscopy
Q34537097Swelling and eicosanoid metabolites differentially gate TRPV4 channels in retinal neurons and glia
Q34287791TRPV4-associated skeletal dysplasias
Q38830274The TRPCs, Orais and STIMs in ER/PM Junctions
Q38216887The force-from-lipid (FFL) principle of mechanosensitivity, at large and in elements
Q94564833Transient receptor potential vanilloid 1 and 4 double knockout leads to increased bone mass in mice
Q49806546Transient receptor potential vanilloid 4 (TRPV4) activation by arachidonic acid requires protein kinase A-mediated phosphorylation
Q36584629Unraveling the mechanism by which TRPV4 mutations cause skeletal dysplasias
Q47228512When size matters: transient receptor potential vanilloid 4 channel as a volume-sensor rather than an osmo-sensor.
Q39630828Yeast luminometric and Xenopus oocyte electrophysiological examinations of the molecular mechanosensitivity of TRPV4.

Search more.