메뉴 건너뛰기




Volumn 113, Issue 4, 2003, Pages 297-306

The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome 2

Author keywords

[No Author keywords available]

Indexed keywords

MYOTUBULARIN; PHOSPHOPROTEIN PHOSPHATASE; UNCLASSIFIED DRUG;

EID: 0042326410     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-003-0984-7     Document Type: Article
Times cited : (35)

References (49)
  • 4
    • 0034703432 scopus 로고    scopus 로고
    • Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway
    • Blondeau F, Laporte J, Bodin S, Superti-Furga G, Payrastre B, Mandel JL (2000) Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway. Hum Mol Genet 9:2223-2229
    • (2000) Hum Mol Genet , vol.9 , pp. 2223-2229
    • Blondeau, F.1    Laporte, J.2    Bodin, S.3    Superti-Furga, G.4    Payrastre, B.5    Mandel, J.L.6
  • 6
    • 5044247122 scopus 로고    scopus 로고
    • Myopathic disorders
    • In: Braund KG (ed); International Veterinary Information Service, Ithaca, document no. B0221.0402
    • Braund KG (2002) Myopathic disorders. In: Braund KG (ed) Clinical Neurology in Small Animals - Localization, Diagnosis and Treatment. International Veterinary Information Service, Ithaca, document no. B0221.0402, http://www.ivis.org/special_books/Braund/braund20a/chapter_frm.asp?LA=1
    • (2002) Clinical Neurology in Small Animals - Localization, Diagnosis and Treatment
    • Braund, K.G.1
  • 7
    • 0033569332 scopus 로고    scopus 로고
    • Reciprocal chromosome painting reveals detailed regions of conserved synteny between the karyotypes of the domestic dog (Canis familiaris) and human
    • Breen M, Thomas R, Binns MM, Carter NP, Langford CF (1999) Reciprocal chromosome painting reveals detailed regions of conserved synteny between the karyotypes of the domestic dog (Canis familiaris) and human. Genomics 61:145-155
    • (1999) Genomics , vol.61 , pp. 145-155
    • Breen, M.1    Thomas, R.2    Binns, M.M.3    Carter, N.P.4    Langford, C.F.5
  • 11
    • 0037081771 scopus 로고    scopus 로고
    • Identification of a new copper metabolism gene by positional cloning in a purebred dog population
    • Van De Sluis B, Rothuizen J, Pearson PL, Van Oost BA, Wijmenga C (2002) Identification of a new copper metabolism gene by positional cloning in a purebred dog population. Hum Mol Genet 11:165-173
    • (2002) Hum Mol Genet , vol.11 , pp. 165-173
    • Van De Sluis, B.1    Rothuizen, J.2    Pearson, P.L.3    Van Oost, B.A.4    Wijmenga, C.5
  • 16
    • 0032066259 scopus 로고    scopus 로고
    • Myotubular myopathy: Morphological, immunohistochemical and clinical variation
    • Helliwell TR, Ellis IH, Appleton RE (1998) Myotubular myopathy: Morphological, immunohistochemical and clinical variation. Neuromuscul Disord 8:152-161
    • (1998) Neuromuscul Disord , vol.8 , pp. 152-161
    • Helliwell, T.R.1    Ellis, I.H.2    Appleton, R.E.3
  • 17
    • 0036159210 scopus 로고    scopus 로고
    • Characterization of mutations in fifty North American patients with X-linked myotubular myopathy
    • Hermann GE, Kopacz K, Zhao W, Mills PL, Metzenberg A, Das S (2002) Characterization of mutations in fifty North American patients with X-linked myotubular myopathy. Hum Mutat 19:114-121
    • (2002) Hum Mutat , vol.19 , pp. 114-121
    • Hermann, G.E.1    Kopacz, K.2    Zhao, W.3    Mills, P.L.4    Metzenberg, A.5    Das, S.6
  • 18
    • 0029883081 scopus 로고    scopus 로고
    • X-linked myotubular myopathy: Refinement of the gene to a 280-kb region with new and highly informative microsatellite markers
    • Hu LJ, Laporte J, Kioschis P, Heyberger S, Kretz C, Poustka A, Mandel JL, Dahi N (1996a) X-linked myotubular myopathy: Refinement of the gene to a 280-kb region with new and highly informative microsatellite markers. Hum Genet 98:178-181
    • (1996) Hum Genet , vol.98 , pp. 178-181
    • Hu, L.J.1    Laporte, J.2    Kioschis, P.3    Heyberger, S.4    Kretz, C.5    Poustka, A.6    Mandel, J.L.7    Dahi, N.8
  • 21
    • 0017149859 scopus 로고
    • A muscle disorder of Labrador Retrievers characterized by deficiency of type II muscle fibers
    • Kramer JW, Hegreberg GA, Bryan GM, Meyers K, Ott RL (1976) A muscle disorder of Labrador Retrievers characterized by deficiency of type II muscle fibers. J Am Vet Med Assoc 169:817-820
    • (1976) J Am Vet Med Assoc , vol.169 , pp. 817-820
    • Kramer, J.W.1    Hegreberg, G.A.2    Bryan, G.M.3    Meyers, K.4    Ott, R.L.5
  • 22
    • 0019881569 scopus 로고
    • Inheritance of a neuromuscular disorder of Labrador Retriever dogs
    • Kramer JW, Hegreberg GA, Hamilton MJ (1981) Inheritance of a neuromuscular disorder of Labrador Retriever dogs. J Am Vet Med Assoc 179:380-381
    • (1981) J Am Vet Med Assoc , vol.179 , pp. 380-381
    • Kramer, J.W.1    Hegreberg, G.A.2    Hamilton, M.J.3
  • 23
    • 0031949481 scopus 로고    scopus 로고
    • Faster multipoint linkage analysis using Fourier transforms
    • Kruglyak L, Lander ES (1998) Faster multipoint linkage analysis using Fourier transforms. J Comput Biol 5:1-7
    • (1998) J Comput Biol , vol.5 , pp. 1-7
    • Kruglyak, L.1    Lander, E.S.2
  • 24
    • 0029886532 scopus 로고    scopus 로고
    • Parametric and nonparametric linkage analysis: A unified multipoint approach
    • Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES (1996) Parametric and nonparametric linkage analysis: A unified multipoint approach. Am J Hum Genet 58:1347-1363
    • (1996) Am J Hum Genet , vol.58 , pp. 1347-1363
    • Kruglyak, L.1    Daly, M.J.2    Reeve-Daly, M.P.3    Lander, E.S.4
  • 25
    • 0023239442 scopus 로고
    • Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children
    • Lander ES, Botstein D (1987) Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children. Science 236:1567-1570
    • (1987) Science , vol.236 , pp. 1567-1570
    • Lander, E.S.1    Botstein, D.2
  • 26
  • 27
  • 29
    • 0036677159 scopus 로고    scopus 로고
    • The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles
    • Laporte J, Blondeau F, Gansmuller A, Lutz Y, Vonesch JL, Mandel JL (2002) The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles. J Cell Sci 115:3105-3117
    • (2002) J Cell Sci , vol.115 , pp. 3105-3117
    • Laporte, J.1    Blondeau, F.2    Gansmuller, A.3    Lutz, Y.4    Vonesch, J.L.5    Mandel, J.L.6
  • 32
    • 0022743305 scopus 로고
    • Hereditary myopathy in Labrador Retrievers: A morphologic study
    • McKerrell RE, Braund KG (1986) Hereditary myopathy in Labrador Retrievers: A morphologic study. Vet Pathol 23:411-417
    • (1986) Vet Pathol , vol.23 , pp. 411-417
    • McKerrell, R.E.1    Braund, K.G.2
  • 35
    • 0035859811 scopus 로고    scopus 로고
    • Characterization of an adapter subunit to a phosphatidylinositol (3)P 3-phosphatase: Identification of a myotubularin-related protein lacking catalytic activity
    • Nandurkar HH, Caldwell KK, Whisstock JC, Layton MJ, Gaudet EA, Norris FA, Majerus PW, Mitchell CA (2001) Characterization of an adapter subunit to a phosphatidylinositol (3)P 3-phosphatase: Identification of a myotubularin-related protein lacking catalytic activity. Proc Natl Acad Sci USA 98:9499-9504
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 9499-9504
    • Nandurkar, H.H.1    Caldwell, K.K.2    Whisstock, J.C.3    Layton, M.J.4    Gaudet, E.A.5    Norris, F.A.6    Majerus, P.W.7    Mitchell, C.A.8
  • 37
    • 0033630005 scopus 로고    scopus 로고
    • Companion animal medicine in the age of medical genetics
    • Patterson DF (2000) Companion animal medicine in the age of medical genetics. J Vet Intern Med 14:1-9
    • (2000) J Vet Intern Med , vol.14 , pp. 1-9
    • Patterson, D.F.1
  • 40
    • 0034667333 scopus 로고    scopus 로고
    • Use of flow-sorted canine chromosomes in the assignment of canine linkage, radiation hybrid, and syntenic groups to chromosomes: Refinement and verification of the comparative chromosome map for dog and human
    • Sargan DR, Yang F, Squire M, Milne BS, O'Brien PC, Ferguson-Smith MA (2000) Use of flow-sorted canine chromosomes in the assignment of canine linkage, radiation hybrid, and syntenic groups to chromosomes: Refinement and verification of the comparative chromosome map for dog and human. Genomics 69:182-195
    • (2000) Genomics , vol.69 , pp. 182-195
    • Sargan, D.R.1    Yang, F.2    Squire, M.3    Milne, B.S.4    O'Brien, P.C.5    Ferguson-Smith, M.A.6
  • 42
    • 0000655012 scopus 로고
    • The detection of linkage in human genetics
    • Smith C (1953) The detection of linkage in human genetics. J R Stat Soc [B] 15:153-184
    • (1953) J R Stat Soc [B] , vol.15 , pp. 153-184
    • Smith, C.1
  • 43
    • 0034244437 scopus 로고    scopus 로고
    • Inaugural article: Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate
    • Taylor GS, MaehamaT, Dixon JE (2000) Inaugural article: Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate. Proc Natl Acad Sci USA 97:8910-8915
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 8910-8915
    • Taylor, G.S.1    Maehama, T.2    Dixon, J.E.3
  • 45
    • 0029023971 scopus 로고
    • The myotubular myopathies: Differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies
    • Wallgren-Pettersson C, Clarke A, Samson F, Fardeau M, Dubowitz V, Moser H, Grimm T, Barohn RJ, Barth PG (1995) The myotubular myopathies: Differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies. J Med Genet 32:673-679
    • (1995) J Med Genet , vol.32 , pp. 673-679
    • Wallgren-Pettersson, C.1    Clarke, A.2    Samson, F.3    Fardeau, M.4    Dubowitz, V.5    Moser, H.6    Grimm, T.7    Barohn, R.8    Barth, P.G.9
  • 47
    • 0035313805 scopus 로고    scopus 로고
    • PTEN and myotubularin phosphoinositide phosphatases: Bringing bioinformatics to the lab bench
    • Wishart MJ, Taylor GS, Slama JT, Dixon JE (2001) PTEN and myotubularin phosphoinositide phosphatases: Bringing bioinformatics to the lab bench. Curr Opin Cell Biol 13:172-181
    • (2001) Curr Opin Cell Biol , vol.13 , pp. 172-181
    • Wishart, M.J.1    Taylor, G.S.2    Slama, J.T.3    Dixon, J.E.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.