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Volumn 14, Issue 2, 2013, Pages 152-163

Erratum: The puzzle of TRPV4 channelopathies (EMBO Reports (2013) 14 (152-163) DOI:10.1038/embor.2012.219);The puzzle of TRPV4 channelopathies

Author keywords

cation channels; neuropathy; skeletal disease; transient receptor potential

Indexed keywords

TRANSIENT RECEPTOR POTENTIAL CHANNEL 4;

EID: 84873413090     PISSN: 1469221X     EISSN: 14693178     Source Type: Journal    
DOI: 10.1038/embor.2013.134     Document Type: Erratum
Times cited : (237)

References (99)
  • 1
    • 77955305225 scopus 로고    scopus 로고
    • The vallinoid transient receptor potential channel Trpv4: From structure to disease
    • Everaerts W, Nilius B, Owsianik G (2010) The vallinoid transient receptor potential channel Trpv4: from structure to disease. Prog Biophys Mol Biol 103: 2-17
    • (2010) Prog Biophys Mol Biol , vol.103 , pp. 2-17
    • Everaerts, W.1    Nilius, B.2    Owsianik, G.3
  • 3
    • 0034306198 scopus 로고    scopus 로고
    • OTRPC4, a nonselective cation channel that confers sensitivity to extracellular osmolarity
    • Strotmann R, Harteneck C, Nunnenmacher K, Schultz G, Plant TD (2000) OTRPC4, a nonselective cation channel that confers sensitivity to extracellular osmolarity. Nat Cell Biol 2: 695-702
    • (2000) Nat Cell Biol , vol.2 , pp. 695-702
    • Strotmann, R.1    Harteneck, C.2    Nunnenmacher, K.3    Schultz, G.4    Plant, T.D.5
  • 4
    • 0347719316 scopus 로고    scopus 로고
    • Cell swelling, heat, and chemical agonists use distinct pathways for the activation of the cation channel TRPV4
    • Vriens J, Watanabe H, Janssens A, Droogmans G, Voets T, Nilius B (2004) Cell swelling, heat, and chemical agonists use distinct pathways for the activation of the cation channel TRPV4. Proc Natl Acad Sci USA 101: 396-401
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 396-401
    • Vriens, J.1    Watanabe, H.2    Janssens, A.3    Droogmans, G.4    Voets, T.5    Nilius, B.6
  • 5
    • 27644497526 scopus 로고    scopus 로고
    • Modulation of the Ca2 permeable cation channe TRPV4 by cytochrome P450 epoxygenases in vascular endothelium
    • Vriens J et al (2005) Modulation of the Ca2 permeable cation channe TRPV4 by cytochrome P450 epoxygenases in vascular endothelium. Circ Res 97: 908-915
    • (2005) Circ Res , vol.97 , pp. 908-915
    • Vriens, J.1
  • 6
    • 0037033077 scopus 로고    scopus 로고
    • Heat-evoked activation of TRPV4 channels in a HEK293 cel expression system and in native mouse aorta endothelial cells
    • Watanabe H, Vriens J, Suh SH, Benham CD, Droogmans G, Nilius B (2002) Heat-evoked activation of TRPV4 channels in a HEK293 cel expression system and in native mouse aorta endothelial cells. J Biol Chem 277: 47044-47051
    • (2002) J Biol Chem , vol.277 , pp. 47044-47051
    • Watanabe, H.1    Vriens, J.2    Suh, S.H.3    Benham, C.D.4    Droogmans, G.5    Nilius, B.6
  • 7
    • 0037134482 scopus 로고    scopus 로고
    • Activation of TRPV4 channels (h VRL-2/m TRP12) by phorbol derivatives
    • Watanabe H et al (2002) Activation of TRPV4 channels (h VRL-2/m TRP12) by phorbol derivatives. J Biol Chem 277: 13569-13577
    • (2002) J Biol Chem , vol.277 , pp. 13569-13577
    • Watanabe, H.1
  • 9
    • 0043267987 scopus 로고    scopus 로고
    • Anandamide and arachidonic acid use epoxyeicosatrienoic acids to activate TRPV4 channels
    • Watanabe H, Vriens J, Prenen J, Droogmans G, Voets T, Nilius B (2003) Anandamide and arachidonic acid use epoxyeicosatrienoic acids to activate TRPV4 channels. Nature 424: 434-438
    • (2003) Nature , vol.424 , pp. 434-438
    • Watanabe, H.1    Vriens, J.2    Prenen, J.3    Droogmans, G.4    Voets, T.5    Nilius, B.6
  • 10
    • 47949102906 scopus 로고    scopus 로고
    • N-((1S)-1-{[4-((2S)-2-{[(2,4-dichlorophenyl) sulfonyl]amino}-3- hydroxypropanoyl)-1-piperazinyl]carbonyl}-3-methylbutyl)-1-benzothiophene-2- carboxamide (GSK1016790A), a novel and potent TRPV4 channel agonist induces urinary bladder contraction and hyperactivity: Part i
    • Thorneloe KS et al (2008) N-((1S)-1-{[4-((2S)-2-{[(2,4-dichlorophenyl) sulfonyl]amino}-3-hydroxypropanoyl)-1-piperazinyl]carbonyl}-3-methylbutyl) -1-benzothiophene-2-carboxamide (GSK1016790A), a novel and potent TRPV4 channel agonist induces urinary bladder contraction and hyperactivity: Part I. J Pharmacol Exp Ther 326: 432-442
    • (2008) J Pharmacol Exp Ther , vol.326 , pp. 432-442
    • Thorneloe, K.S.1
  • 11
    • 65649150431 scopus 로고    scopus 로고
    • Modulation of the transient receptor potential vanilloid channel TRPV4 by 4alpha-phorbol esters: A structure-activity study
    • Klausen TK et al (2009) Modulation of the transient receptor potential vanilloid channel TRPV4 by 4alpha-phorbol esters: a structure-activity study. J Med Chem 52: 2933-2939
    • (2009) J Med Chem , vol.52 , pp. 2933-2939
    • Klausen, T.K.1
  • 12
    • 70449732283 scopus 로고    scopus 로고
    • Identification and characterization of nove TRPV4 modulators
    • Vincent F et al (2009) Identification and characterization of nove TRPV4 modulators. Biochem Biophys Res Commun 389: 490-494
    • (2009) Biochem Biophys Res Commun , vol.389 , pp. 490-494
    • Vincent, F.1
  • 13
    • 34250327530 scopus 로고    scopus 로고
    • Determinants of 4alpha-phorbol sensitivity in transmembrane domains 3 and 4 of the cation channel TRPV4
    • Vriens J, Owsianik G, Janssens A, Voets T, Nilius B (2007) Determinants of 4alpha-phorbol sensitivity in transmembrane domains 3 and 4 of the cation channel TRPV4. J Biol Chem 282: 12796-12803
    • (2007) J Biol Chem , vol.282 , pp. 12796-12803
    • Vriens, J.1    Owsianik, G.2    Janssens, A.3    Voets, T.4    Nilius, B.5
  • 14
    • 0038604287 scopus 로고    scopus 로고
    • Impaired pressure sensation with mice lacking TRPV4
    • Suzuki M, Mizuno A, Kodaira K, Imai M (2003) Impaired pressure sensation with mice lacking TRPV4. J Biol Chem 278: 22664-22668
    • (2003) J Biol Chem , vol.278 , pp. 22664-22668
    • Suzuki, M.1    Mizuno, A.2    Kodaira, K.3    Imai, M.4
  • 15
    • 84859701223 scopus 로고    scopus 로고
    • Apigenin, a plant-derived flavone, activates transient receptor potential TRPV4 cation channel
    • Ma X, He D, Ru X, Chen Y, Cai Y, Bruce IC, Xia Q, Yao X, Jin J (2011) Apigenin, a plant-derived flavone, activates transient receptor potential TRPV4 cation channel. Br J Pharmacol 166: 349-358
    • (2011) Br J Pharmacol , vol.166 , pp. 349-358
    • Ma, X.1    He, D.2    Ru, X.3    Chen, Y.4    Cai, Y.5    Bruce, I.C.6    Xia, Q.7    Yao, X.8    Jin, J.9
  • 17
    • 78650479042 scopus 로고    scopus 로고
    • Inhibition of the cation channel TRPV4 improves bladder function in mice and rats with cyclophosphamide-induced cystitis
    • Everaerts W et al (2010) Inhibition of the cation channel TRPV4 improves bladder function in mice and rats with cyclophosphamide-induced cystitis. Proc Natl Acad Sci USA 107: 19084-19089
    • (2010) Proc Natl Acad Sci USA , vol.107 , pp. 19084-19089
    • Everaerts, W.1
  • 18
    • 79952683619 scopus 로고    scopus 로고
    • The transient receptor potential family of ion channels
    • Nilius B, Owsianik G (2011) The transient receptor potential family of ion channels. Genome Biol 12: 218-229
    • (2011) Genome Biol , vol.12 , pp. 218-229
    • Nilius, B.1    Owsianik, G.2
  • 20
    • 39749115631 scopus 로고    scopus 로고
    • Structural analyses of the ankyrin repeat domain of TRPV6 and related TRPV ion channels
    • Phelps CB, Huang RJ, Lishko PV, Wang RR, Gaudet R (2008) Structural analyses of the ankyrin repeat domain of TRPV6 and related TRPV ion channels. Biochemistry 47: 2476-2484
    • (2008) Biochemistry , vol.47 , pp. 2476-2484
    • Phelps, C.B.1    Huang, R.J.2    Lishko, P.V.3    Wang, R.R.4    Gaudet, R.5
  • 21
    • 84864649745 scopus 로고    scopus 로고
    • Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel
    • Inada H, Procko E, Sotomayor M, Gaudet R (2012) Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel. Biochemistry 51: 6195-6206
    • (2012) Biochemistry , vol.51 , pp. 6195-6206
    • Inada, H.1    Procko, E.2    Sotomayor, M.3    Gaudet, R.4
  • 24
    • 37549002929 scopus 로고    scopus 로고
    • OS-9 regulates the transit and polyubiquitination of TRPV4 in the endoplasmic reticulum
    • Wang Y, Fu X, Gaiser S, Kottgen M, Kramer-Zucker A, Walz G, Wegierski T (2007) OS-9 regulates the transit and polyubiquitination of TRPV4 in the endoplasmic reticulum. J Biol Chem 282: 36561-36570
    • (2007) J Biol Chem , vol.282 , pp. 36561-36570
    • Wang, Y.1    Fu, X.2    Gaiser, S.3    Kottgen, M.4    Kramer-Zucker, A.5    Walz, G.6    Wegierski, T.7
  • 25
    • 0038712568 scopus 로고    scopus 로고
    • Ca2+-dependent potentiation of the nonselective cation channel TRPV4 is mediated by a C-terminal calmodulin binding site
    • Strotmann R, Schultz G, Plant TD (2003) Ca2+-dependent potentiation of the nonselective cation channel TRPV4 is mediated by a C-terminal calmodulin binding site. J Biol Chem 278: 26541-26549
    • (2003) J Biol Chem , vol.278 , pp. 26541-26549
    • Strotmann, R.1    Schultz, G.2    Plant, T.D.3
  • 26
    • 0346435090 scopus 로고    scopus 로고
    • Microtubule-associated protein 7 increases the membrane expression of transient receptor potential vanilloid 4 (TRPV4)
    • Suzuki M, Hirao A, Mizuno A (2003) Microtubule-associated protein 7 increases the membrane expression of transient receptor potential vanilloid 4 (TRPV4). J Biol Chem 278: 51448-51453
    • (2003) J Biol Chem , vol.278 , pp. 51448-51453
    • Suzuki, M.1    Hirao, A.2    Mizuno, A.3
  • 27
    • 77955379568 scopus 로고    scopus 로고
    • Importance of non-selective cation channel TRPV4 interaction with cytoskeleton and their reciprocal regulations in cultured cells
    • Goswami C, Kuhn J, Heppenstall PA, Hucho T (2010) Importance of non-selective cation channel TRPV4 interaction with cytoskeleton and their reciprocal regulations in cultured cells. PLo S ONE 5: e11654
    • (2010) PLo S ONE , vol.5
    • Goswami, C.1    Kuhn, J.2    Heppenstall, P.A.3    Hucho, T.4
  • 28
    • 57649133955 scopus 로고    scopus 로고
    • IP3 receptor binds to and sensitizes TRPV4 channel to osmotic stimuli via a calmodulin-binding site
    • Garcia-Elias A, Lorenzo IM, Vicente R, Valverde MA (2008) IP3 receptor binds to and sensitizes TRPV4 channel to osmotic stimuli via a calmodulin-binding site. J Biol Chem 283: 31284-31288
    • (2008) J Biol Chem , vol.283 , pp. 31284-31288
    • Garcia-Elias, A.1    Lorenzo, I.M.2    Vicente, R.3    Ma, V.4
  • 29
    • 80052237527 scopus 로고    scopus 로고
    • Therapeutic targeting of TRP channels\the TR(i)P to pain relief
    • Eid SR (2011) Therapeutic targeting of TRP channels\the TR(i)P to pain relief. Curr Top Med Chem 11: 2118-2130
    • (2011) Curr Top Med Chem , vol.11 , pp. 2118-2130
    • Eid, S.R.1
  • 30
    • 30744450718 scopus 로고    scopus 로고
    • Functional expression of transient receptor potential vanilloid 4 in the mouse cochlea
    • Shen J, Harada N, Kubo N, Liu B, Mizuno A, Suzuki M, Yamashita T (2006) Functional expression of transient receptor potential vanilloid 4 in the mouse cochlea. Neuroreport 17: 135-139
    • (2006) Neuroreport , vol.17 , pp. 135-139
    • Shen, J.1    Harada, N.2    Kubo, N.3    Liu, B.4    Mizuno, A.5    Suzuki, M.6    Yamashita, T.7
  • 32
    • 84865295536 scopus 로고    scopus 로고
    • Evidence TRPV4 contributes to mechanosensitive ion channels in mouse skeletal muscle fibers
    • Ho TC, Horn NA, Huynh T, Kelava L, Lansman JB (2012) Evidence TRPV4 contributes to mechanosensitive ion channels in mouse skeletal muscle fibers. Channels (Austin) 6: 246-254
    • (2012) Channels (Austin) , vol.6 , pp. 246-254
    • Ho, T.C.1    Horn, N.A.2    Huynh, T.3    Kelava, L.4    Lansman, J.B.5
  • 33
    • 84862662132 scopus 로고    scopus 로고
    • Importance of transient receptor potential vanilloid 4 (TRPV4) in epidermal barrier function in human skin keratinocytes
    • Kida N et al (2012) Importance of transient receptor potential vanilloid 4 (TRPV4) in epidermal barrier function in human skin keratinocytes. Pflugers Arch 463: 715-725
    • (2012) Pflugers Arch , vol.463 , pp. 715-725
    • Kida, N.1
  • 34
    • 84869101137 scopus 로고    scopus 로고
    • TRPV4 is a regulator of adipose oxidative metabolism, inflammation, and energy homeostasis
    • Ye L et al (2012) TRPV4 is a regulator of adipose oxidative metabolism, inflammation, and energy homeostasis. Cell 151: 96-110
    • (2012) Cell , vol.151 , pp. 96-110
    • Ye, L.1
  • 35
    • 36148952129 scopus 로고    scopus 로고
    • Functional gene screening system identified TRPV4 as a regulator of chondrogenic differentiation
    • Muramatsu S et al (2007) Functional gene screening system identified TRPV4 as a regulator of chondrogenic differentiation. J Biol Chem 282: 32158-32167
    • (2007) J Biol Chem , vol.282 , pp. 32158-32167
    • Muramatsu, S.1
  • 37
    • 36049028276 scopus 로고    scopus 로고
    • Deletion of the transient receptor potential cation channel TRPV4 impairs murine bladder voiding
    • Gevaert T et al (2007) Deletion of the transient receptor potential cation channel TRPV4 impairs murine bladder voiding. J Clin Invest 117: 3453-3462
    • (2007) J Clin Invest , vol.117 , pp. 3453-3462
    • Gevaert, T.1
  • 38
    • 50049122815 scopus 로고    scopus 로고
    • TRPV4-mediated calcium influx regulates terminal differentiation of osteoclasts
    • Masuyama R et al (2008) TRPV4-mediated calcium influx regulates terminal differentiation of osteoclasts. Cell Metab 8: 257-265
    • (2008) Cell Metab , vol.8 , pp. 257-265
    • Masuyama, R.1
  • 40
    • 56649092997 scopus 로고    scopus 로고
    • Molecular mechanisms of TRPV4-mediated neural signaling
    • Liedtke W (2008) Molecular mechanisms of TRPV4-mediated neural signaling. Ann NY Acad Sci 1144: 42-52
    • (2008) Ann NY Acad Sci , vol.1144 , pp. 42-52
    • Liedtke, W.1
  • 41
    • 33644671418 scopus 로고    scopus 로고
    • TRPV4 forms a novel Ca2+ signaling complex with ryanodine receptors and BKCa channels
    • Earley S, Heppner TJ, Nelson MT, Brayden JE (2005) TRPV4 forms a novel Ca2+ signaling complex with ryanodine receptors and BKCa channels. Circ Res 97: 1270-1279
    • (2005) Circ Res , vol.97 , pp. 1270-1279
    • Earley, S.1    Heppner, T.J.2    Nelson, M.T.3    Brayden, J.E.4
  • 43
    • 40749155420 scopus 로고    scopus 로고
    • Role of caveolar compartmentation in endothelium-derived hyperpolarizing factor-mediated relaxation: Ca2+ signals and gap junction function are regulated by caveolin in endothelial cells
    • Saliez J et al (2008) Role of caveolar compartmentation in endothelium-derived hyperpolarizing factor-mediated relaxation: Ca2+ signals and gap junction function are regulated by caveolin in endothelial cells. Circulation 117: 1065-1074
    • (2008) Circulation , vol.117 , pp. 1065-1074
    • Saliez, J.1
  • 48
    • 84869141720 scopus 로고    scopus 로고
    • An orally active TRPV4 channel blocker prevents and resolves pulmonary edema induced by heart failure
    • Thorneloe KS et al (2012) An orally active TRPV4 channel blocker prevents and resolves pulmonary edema induced by heart failure. Sci Transl Med 4: 159ra148
    • (2012) Sci Transl Med , vol.4
    • Thorneloe, K.S.1
  • 49
    • 75749129058 scopus 로고    scopus 로고
    • Channelopathies converge on TRPV4
    • Nilius B, Owsianik G (2010) Channelopathies converge on TRPV4. Nat Genet 42: 98-100
    • (2010) Nat Genet , vol.42 , pp. 98-100
    • Nilius, B.1    Owsianik, G.2
  • 50
    • 0000659216 scopus 로고
    • Sur une forme de dystrophie osseuse familiale
    • Morquio L (1929) Sur une forme de dystrophie osseuse familiale. Archives de Médecine des Infants 32: 129-135
    • (1929) Archives de Médecine des Infants , vol.32 , pp. 129-135
    • Morquio, L.1
  • 51
    • 77952751595 scopus 로고    scopus 로고
    • Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations
    • Nishimura G et al (2010) Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. Am J Med Genet A 152A: 1443-1449
    • (2010) Am J Med Genet A , vol.152 A , pp. 1443-1449
    • Nishimura, G.1
  • 52
    • 48349103354 scopus 로고    scopus 로고
    • Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia
    • Rock MJ et al (2008) Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat Genet 40: 999-1003
    • (2008) Nat Genet , vol.40 , pp. 999-1003
    • Rock, M.J.1
  • 53
    • 61549126051 scopus 로고    scopus 로고
    • Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia
    • Krakow D et al (2009) Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am J Hum Genet 84: 307-315
    • (2009) Am J Hum Genet , vol.84 , pp. 307-315
    • Krakow, D.1
  • 54
    • 80054898540 scopus 로고    scopus 로고
    • Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?
    • Unger S et al (2011) Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy? Am J Med Genet A 155A: 2860-2864
    • (2011) Am J Med Genet A , vol.155 A , pp. 2860-2864
    • Unger, S.1
  • 57
    • 84862227976 scopus 로고    scopus 로고
    • TRPV4 axonal neuropathy spectrum disorder
    • Mc Entagart M (2012) TRPV4 axonal neuropathy spectrum disorder. J Clin Neurosci 19: 927-933
    • (2012) J Clin Neurosci , vol.19 , pp. 927-933
    • Mc Entagart, M.1
  • 59
    • 0043092414 scopus 로고    scopus 로고
    • The Hammersmith functional motor scale for children with spinal muscular atrophy: A scale to test ability and monitor progress in children with limited ambulation
    • Main M, Kairon H, Mercuri E, Muntoni F (2003) The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation. Eur J Paediatr Neurol 7: 155-159
    • (2003) Eur J Paediatr Neurol , vol.7 , pp. 155-159
    • Main, M.1    Kairon, H.2    Mercuri, E.3    Muntoni, F.4
  • 61
    • 80053964169 scopus 로고    scopus 로고
    • Molecular genetics and mechanisms of disease in distal hereditary motor neuropathies: Insights directing future genetic studies
    • Drew AP, Blair IP, Nicholson GA (2011) Molecular genetics and mechanisms of disease in distal hereditary motor neuropathies: insights directing future genetic studies. Curr Mol Med 11: 650-665
    • (2011) Curr Mol Med , vol.11 , pp. 650-665
    • Drew, A.P.1    Blair, I.P.2    Nicholson, G.A.3
  • 63
    • 84865000128 scopus 로고    scopus 로고
    • TRPV4 mutations in children with congenital distal spinal muscular atrophy
    • Fiorillo C et al (2012) TRPV4 mutations in children with congenital distal spinal muscular atrophy. Neurogenetics 13: 195-203
    • (2012) Neurogenetics , vol.13 , pp. 195-203
    • Fiorillo, C.1
  • 64
    • 0026733132 scopus 로고
    • A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features
    • De Long R, Siddique T (1992) A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features. Arch Neurol 49: 905-908
    • (1992) Arch Neurol , vol.49 , pp. 905-908
    • De Long, R.1    Siddique, T.2
  • 65
    • 75749083221 scopus 로고    scopus 로고
    • Scapuloperoneal spinal muscular atrophy and hereditary motor and sensory neuropathy type IIC are allelic disorders caused by mutations in TRPV4
    • Deng HX et al (2010) Scapuloperoneal spinal muscular atrophy and hereditary motor and sensory neuropathy type IIC are allelic disorders caused by mutations in TRPV4. Nat Genet 42: 165-169
    • (2010) Nat Genet , vol.42 , pp. 165-169
    • Deng, H.X.1
  • 66
    • 84856133912 scopus 로고    scopus 로고
    • Genetics of neuropathies
    • Siskind CE, Shy ME (2011) Genetics of neuropathies. Semin Neurol 31: 494-505
    • (2011) Semin Neurol , vol.31 , pp. 494-505
    • Siskind, C.E.1    Shy, M.E.2
  • 67
    • 79958234539 scopus 로고    scopus 로고
    • Peripheral neuropathies: Molecular diagnosis of Charcot-Marie-Tooth disease
    • Berciano J (2011) Peripheral neuropathies: molecular diagnosis of Charcot-Marie-Tooth disease. Nat Rev Neurol 7: 305-306
    • (2011) Nat Rev Neurol , vol.7 , pp. 305-306
    • Berciano, J.1
  • 69
    • 77952959682 scopus 로고    scopus 로고
    • Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies
    • Zimon M et al (2010) Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. Brain 33: 1798-1809
    • (2010) Brain , vol.33 , pp. 1798-1809
    • Zimon, M.1
  • 70
    • 75749129360 scopus 로고    scopus 로고
    • Alterations in the N-terminal ankyrin domain of TRPV4 cause congenital and scapuloperoneal spinal muscular atrophy, and hereditary motor and sensory neuropathy 2C
    • Auer-Grumbach M et al (2010) Alterations in the N-terminal ankyrin domain of TRPV4 cause congenital and scapuloperoneal spinal muscular atrophy, and hereditary motor and sensory neuropathy 2C. Nat Genet 42: 160-164
    • (2010) Nat Genet , vol.42 , pp. 160-164
    • Auer-Grumbach, M.1
  • 71
    • 75749139617 scopus 로고    scopus 로고
    • Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C
    • Landouré G et al (2010) Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nat Genet 42: 170-174
    • (2010) Nat Genet , vol.42 , pp. 170-174
    • Landouré, G.1
  • 72
    • 84869239787 scopus 로고    scopus 로고
    • Comprehensive analysis of the TRPV4 gene in a arge series of inherited neuropathies and controls
    • Fawcett KA et al (2012) Comprehensive analysis of the TRPV4 gene in a arge series of inherited neuropathies and controls. J Neurol Neurosurg Psychiatry 83: 1204-1209
    • (2012) J Neurol Neurosurg Psychiatry , vol.83 , pp. 1204-1209
    • Fawcett, K.A.1
  • 73
    • 80054985573 scopus 로고    scopus 로고
    • Mutations in TRPV4 cause an inherited arthropathy of hands and feet
    • Lamande SR et al (2011) Mutations in TRPV4 cause an inherited arthropathy of hands and feet. Nat Genet 43: 1142-1146
    • (2011) Nat Genet , vol.43 , pp. 1142-1146
    • Lamande, S.R.1
  • 74
    • 79952930269 scopus 로고    scopus 로고
    • TRPV4 neuropathies: Calcium channe inhibition as a therapeutic target?
    • Baets J, De Jonghe P (2011) TRPV4 neuropathies: Calcium channe inhibition as a therapeutic target? Neurology 76: 856-857
    • (2011) Neurology , vol.76 , pp. 856-857
    • Baets, J.1    De Jonghe, P.2
  • 75
    • 77956250225 scopus 로고    scopus 로고
    • Wild-type and brachyolmia-causing mutant TRPV4 channels respond directly to stretch force
    • Loukin S, Zhou X, Su Z, Saimi Y, Kung C (2010) Wild-type and brachyolmia-causing mutant TRPV4 channels respond directly to stretch force. J Biol Chem 285: 27176-27181
    • (2010) J Biol Chem , vol.285 , pp. 27176-27181
    • Loukin, S.1    Zhou, X.2    Su, Z.3    Saimi, Y.4    Kung, C.5
  • 76
    • 79952904426 scopus 로고    scopus 로고
    • TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies
    • Klein CJ et al (2011) TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies. Neurology 76: 887-894
    • (2011) Neurology , vol.76 , pp. 887-894
    • Klein, C.J.1
  • 77
    • 80054115971 scopus 로고    scopus 로고
    • Ligand stoichiometry of the cold-and menthol-activated channel TRPM8
    • Janssens A, Voets T (2011) Ligand stoichiometry of the cold-and menthol-activated channel TRPM8. J Physiol 589: 4827-4835
    • (2011) J Physiol , vol.589 , pp. 4827-4835
    • Janssens, A.1    Voets, T.2
  • 78
    • 33644969008 scopus 로고    scopus 로고
    • Human TRPV4 channel splice variants revealed a key role of ankyrin domains in multimerization and trafficking
    • Arniges M, Fernandez-Fernandez JM, Albrecht N, Schaefer M, Valverde MA (2006) Human TRPV4 channel splice variants revealed a key role of ankyrin domains in multimerization and trafficking. J Biol Chem 281: 1580-1586
    • (2006) J Biol Chem , vol.281 , pp. 1580-1586
    • Arniges, M.1    Fernandez-Fernandez, J.M.2    Albrecht, N.3    Schaefer, M.4    Valverde, M.A.5
  • 81
    • 84862121436 scopus 로고    scopus 로고
    • Cleavage of TRPM7 releases the kinase domain from the ion channel and regulates its participation in Fas-induced apoptosis
    • Desai BN et al (2012) Cleavage of TRPM7 releases the kinase domain from the ion channel and regulates its participation in Fas-induced apoptosis. Dev Cell 22: 1149-1162
    • (2012) Dev Cell , vol.22 , pp. 1149-1162
    • Desai, B.N.1
  • 82
    • 79955758732 scopus 로고    scopus 로고
    • Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies
    • Fecto F, Shi Y, Huda R, Martina M, Siddique T, Deng HX (2011) Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies. J Biol Chem 286: 17281-17291
    • (2011) J Biol Chem , vol.286 , pp. 17281-17291
    • Fecto, F.1    Shi, Y.2    Huda, R.3    Martina, M.4    Siddique, T.5    Deng, H.X.6
  • 83
    • 84863122673 scopus 로고    scopus 로고
    • Axonal neuropathy-associated TRPV4 regulates neurotrophic factor-derived axonal growth
    • Jang Y et al (2012) Axonal neuropathy-associated TRPV4 regulates neurotrophic factor-derived axonal growth. J Biol Chem 287: 6014-6024
    • (2012) J Biol Chem , vol.287 , pp. 6014-6024
    • Jang, Y.1
  • 84
    • 0042888668 scopus 로고    scopus 로고
    • Genetic disorders of the skeleton: A developmental approach
    • Kornak U, Mundlos S (2003) Genetic disorders of the skeleton: a developmental approach. Am J Hum Genet 73: 447-474
    • (2003) Am J Hum Genet , vol.73 , pp. 447-474
    • Kornak, U.1    Mundlos, S.2
  • 85
    • 77950648327 scopus 로고    scopus 로고
    • Transient receptor potential vanilloid 4
    • Guilak F, Leddy HA, Liedtke W (2010) Transient receptor potential vanilloid 4. Ann NY Acad Sci 1192: 404-409
    • (2010) Ann NY Acad Sci , vol.1192 , pp. 404-409
    • Guilak, F.1    Leddy, H.A.2    Liedtke, W.3
  • 86
    • 0033103174 scopus 로고    scopus 로고
    • A new ER trafficking signal regulates the subunit stoichiometry of plasma membrane K(ATP) channels
    • Zerangue N, Schwappach B, Jan YN, Jan LY (1999) A new ER trafficking signal regulates the subunit stoichiometry of plasma membrane K(ATP) channels. Neuron 22: 537-548
    • (1999) Neuron , vol.22 , pp. 537-548
    • Zerangue, N.1    Schwappach, B.2    Jan, Y.N.3    Jan, L.Y.4
  • 87
    • 0142184471 scopus 로고    scopus 로고
    • Rescue of functional Delta F508-CFTR channels by co-expression with truncated CFTR constructs in COS-1 cells
    • Owsianik G, Cao L, Nilius B (2003) Rescue of functional Delta F508-CFTR channels by co-expression with truncated CFTR constructs in COS-1 cells. FEBS Lett 554: 173-178
    • (2003) FEBS Lett , vol.554 , pp. 173-178
    • Owsianik, G.1    Cao, L.2    Nilius, B.3
  • 89
    • 33845694340 scopus 로고    scopus 로고
    • The HECT ubiquitin ligase AIP 4 regulates the cell surface expression of select TRP channels
    • Wegierski T, Hill K, Schaefer M, Walz G (2006) The HECT ubiquitin ligase AIP4 regulates the cell surface expression of select TRP channels. EMBO J 25: 5659-5669
    • (2006) EMBO J , vol.25 , pp. 5659-5669
    • Wegierski, T.1    Hill, K.2    Schaefer, M.3    Walz, G.4
  • 90
    • 84860446923 scopus 로고    scopus 로고
    • 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 mutations
    • Lanciotti A et al (2012) 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 mutations. Hum Mol Genet 21: 2166-2180
    • (2012) Hum Mol Genet , vol.21 , pp. 2166-2180
    • Lanciotti, A.1
  • 91
    • 79958839921 scopus 로고    scopus 로고
    • TRPV4-mediated calcium influx into human bronchial epithelia upon exposure to diesel exhaust particles
    • Li J et al (2011) TRPV4-mediated calcium influx into human bronchial epithelia upon exposure to diesel exhaust particles. Environ Health Perspect 119: 784-793
    • (2011) Environ Health Perspect , vol.119 , pp. 784-793
    • Li, J.1
  • 92
    • 69549122680 scopus 로고    scopus 로고
    • A loss-of-function nonsynonymous polymorphism in the osmoregulatory TRPV4 gene is associated with human hyponatremia
    • Tian W et al (2009) A loss-of-function nonsynonymous polymorphism in the osmoregulatory TRPV4 gene is associated with human hyponatremia. Proc Natl Acad Sci USA 106: 14034-14039
    • (2009) Proc Natl Acad Sci USA , vol.106 , pp. 14034-14039
    • Tian, W.1
  • 93
    • 77952748007 scopus 로고    scopus 로고
    • Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family
    • Dai J et al (2010) Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family J Med Genet 47: 704-709
    • (2010) J Med Genet , vol.47 , pp. 704-709
    • Dai, J.1
  • 94
    • 84863398713 scopus 로고    scopus 로고
    • TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: A report of three patients
    • Cho TJ et al (2012) TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: A report of three patients. Am J Med Genet A 158A: 795-802
    • (2012) Am J Med Genet A , vol.158 A , pp. 795-802
    • Cho, T.J.1
  • 96
    • 84866250052 scopus 로고    scopus 로고
    • Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family
    • Landoure G et al (2012) Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family. Neurology 79: 192-194
    • (2012) Neurology , vol.79 , pp. 192-194
    • Landoure, G.1
  • 98
    • 79958058425 scopus 로고    scopus 로고
    • TRPV4 related skeletal dysplasias: A phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families
    • Andreucci E et al (2011) TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families. Orphanet J Rare Dis 6: 37
    • (2011) Orphanet J Rare Dis , vol.6 , pp. 37
    • Andreucci, E.1
  • 99
    • 84871349942 scopus 로고    scopus 로고
    • Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation
    • Kang SS, Shin SH, Auh CK, Chun JS (2012) Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation. Exp Mol Med 44: 707-722
    • (2012) Exp Mol Med , vol.44 , pp. 707-722
    • Kang, S.S.1    Shin, S.H.2    Auh, C.K.3    Chun, J.S.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.