메뉴 건너뛰기




Volumn 29, Issue 8, 2014, Pages 1815-1822

Mice expressing mutant Trpv4 recapitulate the human TRPV4 disorders

Author keywords

Calcium Channel; Metatropic Dysplasia; Skeletal Dysplasia; SMDK; Transgenic Mice; TRPV4

Indexed keywords

VANILLOID RECEPTOR 4; VANILLOID RECEPTOR;

EID: 84904653988     PISSN: 08840431     EISSN: 15234681     Source Type: Journal    
DOI: 10.1002/jbmr.2220     Document Type: Article
Times cited : (16)

References (18)
  • 1
    • 48349103354 scopus 로고    scopus 로고
    • Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia
    • Rock MJ, Prenen J, Funari VA, et al. Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat Genet. 2008; 40 (8): 999-1003.
    • (2008) Nat Genet , vol.40 , Issue.8 , pp. 999-1003
    • Rock, M.J.1    Prenen, J.2    Funari, V.A.3
  • 2
    • 0035958884 scopus 로고    scopus 로고
    • Analysis of the native quaternary structure of vanilloid receptor 1
    • Kedei N, Szabo T, Lile JD, et al. Analysis of the native quaternary structure of vanilloid receptor 1. J Biol Chem. 2001; 276 (30): 28613-9.
    • (2001) J Biol Chem , vol.276 , Issue.30 , pp. 28613-28619
    • Kedei, N.1    Szabo, T.2    Lile, J.D.3
  • 3
    • 36148952129 scopus 로고    scopus 로고
    • Functional gene screening system identified TRPV4 as a regulator of chondrogenic differentiation
    • Muramatsu S, Wakabayashi M, Ohno T, et al. Functional gene screening system identified TRPV4 as a regulator of chondrogenic differentiation. J Biol Chem. 2007; 282 (44): 32158-67.
    • (2007) J Biol Chem , vol.282 , Issue.44 , pp. 32158-32167
    • Muramatsu, S.1    Wakabayashi, M.2    Ohno, T.3
  • 4
    • 77951717570 scopus 로고    scopus 로고
    • Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia
    • Camacho N, Krakow D, Johnykutty S, et al. Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. Am J Med Genet A. 2010; 152A (5): 1169-77.
    • (2010) Am J Med Genet A , vol.152 A , Issue.5 , pp. 1169-1177
    • Camacho, N.1    Krakow, D.2    Johnykutty, S.3
  • 5
    • 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, Vriens J, Camacho N, et al. Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am J Hum Genet. 2009; 84 (3): 307-15.
    • (2009) Am J Hum Genet , vol.84 , Issue.3 , pp. 307-315
    • Krakow, D.1    Vriens, J.2    Camacho, N.3
  • 6
    • 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, Dai J, Lausch E, et al. Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. Am J Med Genet A. 2010; 152A (6): 1443-9.
    • (2010) Am J Med Genet A , vol.152 A , Issue.6 , pp. 1443-1449
    • Nishimura, G.1    Dai, J.2    Lausch, E.3
  • 7
    • 80054985573 scopus 로고    scopus 로고
    • Mutations in TRPV4 cause an inherited arthropathy of hands and feet
    • Lamande SR, Yuan Y, Gresshoff IL, et al. Mutations in TRPV4 cause an inherited arthropathy of hands and feet. Nat Genet. 2011; 43 (11): 1142-6.
    • (2011) Nat Genet , vol.43 , Issue.11 , pp. 1142-1146
    • Lamande, S.R.1    Yuan, Y.2    Gresshoff, I.L.3
  • 8
    • 75749139617 scopus 로고    scopus 로고
    • Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C
    • Landoure G, Zdebik AA, Martinez TL, et al. Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nat Genet. 2010; 42 (2): 170-4.
    • (2010) Nat Genet , vol.42 , Issue.2 , pp. 170-174
    • Landoure, G.1    Zdebik, A.A.2    Martinez, T.L.3
  • 9
    • 77955305225 scopus 로고    scopus 로고
    • The vanilloid transient receptor potential channel TRPV4: From structure to disease
    • Everaerts W, Nilius B, Owsianik G., The vanilloid transient receptor potential channel TRPV4: from structure to disease. Progress in biophysics and molecular biology. 2010; 103 (1): 2-17.
    • (2010) Progress in Biophysics and Molecular Biology , vol.103 , Issue.1 , pp. 2-17
    • Everaerts, W.1    Nilius, B.2    Owsianik, G.3
  • 11
    • 34447500094 scopus 로고    scopus 로고
    • Dominance of SOX9 function over RUNX2 during skeletogenesis
    • Zhou G, Zheng Q, Engin F, et al. Dominance of SOX9 function over RUNX2 during skeletogenesis. Proc Natl Acad Sci USA. 2006; 103 (50): 19004-9.
    • (2006) Proc Natl Acad Sci USA , vol.103 , Issue.50 , pp. 19004-19009
    • Zhou, G.1    Zheng, Q.2    Engin, F.3
  • 12
    • 0026361902 scopus 로고
    • Coinjection strategy for visual identification of transgenic mice
    • Overbeek PA, Aguilar-Cordova E, Hanten G, et al. Coinjection strategy for visual identification of transgenic mice. Transgenic Res. 1991; 1 (1): 31-7.
    • (1991) Transgenic Res , vol.1 , Issue.1 , pp. 31-37
    • Overbeek, P.A.1    Aguilar-Cordova, E.2    Hanten, G.3
  • 13
    • 36049028276 scopus 로고    scopus 로고
    • Deletion of the transient receptor potential cation channel TRPV4 impairs murine bladder voiding
    • Gevaert T, Vriens J, Segal A, et al. Deletion of the transient receptor potential cation channel TRPV4 impairs murine bladder voiding. J Clin Invest. 2007; 117 (11): 3453-62.
    • (2007) J Clin Invest , vol.117 , Issue.11 , pp. 3453-3462
    • Gevaert, T.1    Vriens, J.2    Segal, A.3
  • 14
    • 0031442990 scopus 로고    scopus 로고
    • Targeted expression of constitutively active receptors for parathyroid hormone and parathyroid hormone-related peptide delays endochondral bone formation and rescues mice that lack parathyroid hormone-related peptide
    • Schipani E, Lanske B, Hunzelman J, et al. Targeted expression of constitutively active receptors for parathyroid hormone and parathyroid hormone-related peptide delays endochondral bone formation and rescues mice that lack parathyroid hormone-related peptide. Proc Natl Acad Sci USA. 1997; 94 (25): 13689-94.
    • (1997) Proc Natl Acad Sci USA , vol.94 , Issue.25 , pp. 13689-13694
    • Schipani, E.1    Lanske, B.2    Hunzelman, J.3
  • 15
    • 77952748007 scopus 로고    scopus 로고
    • Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family
    • Dai J, Kim OH, Cho TJ, et al. Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. J Med Genet. 2010; 47 (10): 704-9.
    • (2010) J Med Genet , vol.47 , Issue.10 , pp. 704-709
    • Dai, J.1    Kim, O.H.2    Cho, T.J.3
  • 17
    • 0021914545 scopus 로고
    • Developmental acquisition of type X collagen in the embryonic chick tibiotarsus
    • Schmid TM, Linsenmayer TF., Developmental acquisition of type X collagen in the embryonic chick tibiotarsus. Dev Biol. 1985; 107 (2): 373-81.
    • (1985) Dev Biol , vol.107 , Issue.2 , pp. 373-381
    • Schmid, T.M.1    Linsenmayer, T.F.2
  • 18
    • 37549002929 scopus 로고    scopus 로고
    • OS-9 regulates the transit and polyubiquitination of TRPV4 in the endoplasmic reticulum
    • Wang Y, Fu X, Gaiser S, et al. OS-9 regulates the transit and polyubiquitination of TRPV4 in the endoplasmic reticulum. J Biol Chem. 2007; 282 (50): 36561-70.
    • (2007) J Biol Chem , vol.282 , Issue.50 , pp. 36561-36570
    • Wang, Y.1    Fu, X.2    Gaiser, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.