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Volumn 20, Issue 1, 1998, Pages 37-42

A gene related to caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

Author keywords

[No Author keywords available]

Indexed keywords

CALPAIN 3; DYSFERLIN; DYSTROPHIN; SPERMATOGENESIS FACTOR FER 1; UNCLASSIFIED DRUG;

EID: 17344363640     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/1689     Document Type: Article
Times cited : (576)

References (48)
  • 1
    • 0023614271 scopus 로고
    • Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
    • Koenig, M. et al. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50, 509-517 (1987).
    • (1987) Cell , vol.50 , pp. 509-517
    • Koenig, M.1
  • 2
    • 0005933477 scopus 로고    scopus 로고
    • The limb-girdle muscular dystrophies
    • ed. Emery, A.E.H. Royal Society of Medicine Press, London
    • Bushby, K.M.D. The limb-girdle muscular dystrophies, in Diagnostic Criteria for Neuromuscular Disorders (ed. Emery, A.E.H.) 17-22 (Royal Society of Medicine Press, London, 1997).
    • (1997) Diagnostic Criteria for Neuromuscular Disorders , pp. 17-22
    • Bushby, K.M.D.1
  • 3
    • 0028877455 scopus 로고
    • Muscular dystrophies: Diseases of the dystrophin-glycoprotein complex
    • Worton, R.G. Muscular dystrophies: diseases of the dystrophin-glycoprotein complex. Science 270, 755-756 (1995).
    • (1995) Science , vol.270 , pp. 755-756
    • Worton, R.G.1
  • 4
    • 0028883973 scopus 로고
    • Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy
    • Noguchi, S. et al. Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy. Science 270, 819-822 (1995).
    • (1995) Science , vol.270 , pp. 819-822
    • Noguchi, S.1
  • 5
    • 0029319426 scopus 로고
    • Primary adhalinopathy: A common cause of autosomal recessive muscular dystrophy of variable severity
    • Piccolo, F. et al. Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nature Genet. 10, 243-245 (1995).
    • (1995) Nature Genet. , vol.10 , pp. 243-245
    • Piccolo, F.1
  • 6
    • 0028971219 scopus 로고
    • β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
    • Bonnemann, C.G. et al. β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nature Genet. 11, 266-273 (1995).
    • (1995) Nature Genet. , vol.11 , pp. 266-273
    • Bonnemann, C.G.1
  • 7
    • 0028971221 scopus 로고
    • β-sarcoglycan: Characterisation and role in limb-girdle muscular dystrophy linked to 4q12
    • Lim, L.E. et al. β-sarcoglycan: characterisation and role in limb-girdle muscular dystrophy linked to 4q12. Mature Genet. 11, 257-265 (1995).
    • (1995) Mature Genet. , vol.11 , pp. 257-265
    • Lim, L.E.1
  • 8
    • 0029816797 scopus 로고    scopus 로고
    • Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ-sarcoglycan gene
    • Nigro, V. et al. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ-sarcoglycan gene. Nature Genet. 14, 195-198 (1996).
    • (1996) Nature Genet. , vol.14 , pp. 195-198
    • Nigro, V.1
  • 9
    • 0030951089 scopus 로고    scopus 로고
    • Primary adhalinopathy (-sarcoglycanopathy): Clinical, pathologic and genetic correlation in 20 patients with autosomal recessive muscular dystrophy
    • Eymard, B. et al. Primary adhalinopathy (-sarcoglycanopathy): clinical, pathologic and genetic correlation in 20 patients with autosomal recessive muscular dystrophy. Neurol. 48, 1227-1234 (1997).
    • (1997) Neurol. , vol.48 , pp. 1227-1234
    • Eymard, B.1
  • 10
    • 0031920515 scopus 로고    scopus 로고
    • Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
    • Minetti, C. et al. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nature Genet. 18, 365-368 (1998).
    • (1998) Nature Genet. , vol.18 , pp. 365-368
    • Minetti, C.1
  • 11
    • 0345582159 scopus 로고    scopus 로고
    • Caveolin-3 in muscular dystrophy
    • McNally, E.M. et al. Caveolin-3 in muscular dystrophy. Hum. Mol. Genet 7, 871-877 (1998).
    • (1998) Hum. Mol. Genet , vol.7 , pp. 871-877
    • McNally, E.M.1
  • 12
    • 0028905205 scopus 로고
    • Mutations in the proteolytic enzyme, calpain 3, cause limb girdle muscular dystrophy type 2A
    • Richard, I. et al. Mutations in the proteolytic enzyme, calpain 3, cause limb girdle muscular dystrophy type 2A. Cell 81, 27-40 (1995).
    • (1995) Cell , vol.81 , pp. 27-40
    • Richard, I.1
  • 13
    • 0029963979 scopus 로고    scopus 로고
    • Juvenile limb-girdle muscular dystrophy: Clinical, histopathological and genetic data from a small community living in the Reunion Island
    • Fardeau, M. et al. (1996). Juvenile limb-girdle muscular dystrophy: clinical, histopathological and genetic data from a small community living in the Reunion Island. Brain 119, 295-308.
    • (1996) Brain , vol.119 , pp. 295-308
    • Fardeau, M.1
  • 14
    • 13344285357 scopus 로고
    • Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence
    • Sorimachi, H. et al. Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence. J. Biol. Chem. 270, 31155-31162 (1995).
    • (1995) J. Biol. Chem. , vol.270 , pp. 31155-31162
    • Sorimachi, H.1
  • 15
    • 0028326542 scopus 로고
    • A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p
    • Bashir, R. et al. A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Hum. Mol. Genet. 3, 455-457 (1994).
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 455-457
    • Bashir, R.1
  • 16
    • 0029057637 scopus 로고
    • Confirmation of the 2p locus for late-onset autosomal recessive limb-girdle muscular dystrophy and refinement of the candidate region
    • Passos-Bueno, M.R. et al. Confirmation of the 2p locus for late-onset autosomal recessive limb-girdle muscular dystrophy and refinement of the candidate region. Genomics 27, 192-195 (1995).
    • (1995) Genomics , vol.27 , pp. 192-195
    • Passos-Bueno, M.R.1
  • 17
    • 0030477874 scopus 로고    scopus 로고
    • The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy
    • Mahjneh, I. et al. The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy. Neuromusc. Disord. 6, 483-490 (1996).
    • (1996) Neuromusc. Disord. , vol.6 , pp. 483-490
    • Mahjneh, I.1
  • 18
    • 0028951204 scopus 로고
    • Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14
    • Bejaoui, K. et al. Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14. Neurol. 45, 768-772 (1995).
    • (1995) Neurol. , vol.45 , pp. 768-772
    • Bejaoui, K.1
  • 19
    • 12644258539 scopus 로고    scopus 로고
    • Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy
    • Illarioshkin, S.N. et al. Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy. Brain 119, 1895-1909 (1996).
    • (1996) Brain , vol.119 , pp. 1895-1909
    • Illarioshkin, S.N.1
  • 20
    • 0029845713 scopus 로고    scopus 로고
    • Limb-girdle muscular dystrophy and Miyoshi myopathy in an Aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype
    • Weiler, T. et al. Limb-girdle muscular dystrophy and Miyoshi myopathy in an Aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. Am. J. Hum. Genet. 59, 872-878 (1996).
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 872-878
    • Weiler, T.1
  • 21
    • 0023718118 scopus 로고
    • An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
    • Monaco, A.P., Bertelson, C.J., Liechti-Gallati, S., Moser, H. & Kunkel, L.M. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 2, 90-95 (1988).
    • (1988) Genomics , vol.2 , pp. 90-95
    • Monaco, A.P.1    Bertelson, C.J.2    Liechti-Gallati, S.3    Moser, H.4    Kunkel, L.M.5
  • 22
    • 0029873710 scopus 로고    scopus 로고
    • Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p
    • Bashir, R. et al. Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p. Genomics 33, 46-52 (1996).
    • (1996) Genomics , vol.33 , pp. 46-52
    • Bashir, R.1
  • 23
    • 0032008693 scopus 로고    scopus 로고
    • Genetic fine mapping of the Miyoshi myopathy locus and exclusion of eight candidate genes
    • Bejaoui, K. et al. Genetic fine mapping of the Miyoshi myopathy locus and exclusion of eight candidate genes. Neurogenet. 1, 189-196 (1998).
    • (1998) Neurogenet. , vol.1 , pp. 189-196
    • Bejaoui, K.1
  • 24
    • 0031172187 scopus 로고    scopus 로고
    • Refined genetic location of the chromosome 2p-linked progressive muscular dystrophy gene
    • Illarioshkin, S.N. et al. Refined genetic location of the chromosome 2p-linked progressive muscular dystrophy gene. Genomics 42, 345-348 (1997).
    • (1997) Genomics , vol.42 , pp. 345-348
    • Illarioshkin, S.N.1
  • 25
    • 17444449419 scopus 로고    scopus 로고
    • Generation of a 3-Mb PAC contig spanning the Miyoshi Myopathy/ Limb-Girdle muscular dystrophy (MM/LGMD2B) locus on chromosome 2p13
    • Liu, J. et al. Generation of a 3-Mb PAC contig spanning the Miyoshi Myopathy/ Limb-Girdle muscular dystrophy (MM/LGMD2B) locus on chromosome 2p13. Genomics 49, 23-29 (1998).
    • (1998) Genomics , vol.49 , pp. 23-29
    • Liu, J.1
  • 26
    • 0027102414 scopus 로고
    • A large inbred Palestinian family with two forms of muscular dystrophy
    • Mahjneh, I., Vanelli, G., Bushby, K. & Marconi, G. A large inbred Palestinian family with two forms of muscular dystrophy. Neuromusc. Disord. 2, 277-283 (1992).
    • (1992) Neuromusc. Disord. , vol.2 , pp. 277-283
    • Mahjneh, I.1    Vanelli, G.2    Bushby, K.3    Marconi, G.4
  • 27
    • 0028968790 scopus 로고
    • Genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus
    • Allamand, V. et al. Genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus. Hum. Mol. Genet. 4, 459-463 (1995).
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 459-463
    • Allamand, V.1
  • 28
    • 0030972880 scopus 로고    scopus 로고
    • A nematode gene required for sperm vesicle fusion
    • Achanzar, W.E. & Ward, S. A nematode gene required for sperm vesicle fusion. J. Cell Sci. 110, 1073-1081 (1997).
    • (1997) J. Cell Sci. , vol.110 , pp. 1073-1081
    • Achanzar, W.E.1    Ward, S.2
  • 29
    • 0031943778 scopus 로고    scopus 로고
    • From dystrophinopathy to sarcoglycanopathy: Evolution of a concept of muscular dystrophy
    • Ozawa, E., Noguchi, S., Mizuno, Y., Hagiwara, Y. & Yoshida, M. From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy. Muscle Nerve, 421-438 (1998).
    • (1998) Muscle Nerve , pp. 421-438
    • Ozawa, E.1    Noguchi, S.2    Mizuno, Y.3    Hagiwara, Y.4    Yoshida, M.5
  • 30
    • 15844401780 scopus 로고
    • Expression of caveolin-3 in skeletal, cardiac and smooth muscle cells
    • Song, K.S. et al. Expression of caveolin-3 in skeletal, cardiac and smooth muscle cells. J. Biol. Chem. 271, 15160-15165 (1995).
    • (1995) J. Biol. Chem. , vol.271 , pp. 15160-15165
    • Song, K.S.1
  • 31
    • 0027985787 scopus 로고
    • Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
    • Bione, S. et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nature Genet 8, 323-327 (1994).
    • (1994) Nature Genet , vol.8 , pp. 323-327
    • Bione, S.1
  • 32
    • 0028070987 scopus 로고
    • Vesicle fusion from yeast to man
    • Ferro-Novick, S. & Jahn, R. Vesicle fusion from yeast to man. Nature 370, 191-193 (1994).
    • (1994) Nature , vol.370 , pp. 191-193
    • Ferro-Novick, S.1    Jahn, R.2
  • 33
    • 0025276435 scopus 로고
    • Viral and cellular membrane fusion proteins
    • White, J.M. Viral and cellular membrane fusion proteins. Annu. Rev. Physiol. 52, 675-697 (1990).
    • (1990) Annu. Rev. Physiol. , vol.52 , pp. 675-697
    • White, J.M.1
  • 34
    • 0032549708 scopus 로고    scopus 로고
    • SNAREpins: Minimal machinery for membrane fusion
    • Weber, T. et al. SNAREpins: minimal machinery for membrane fusion. Cell 92, 759-772 (1998).
    • (1998) Cell , vol.92 , pp. 759-772
    • Weber, T.1
  • 37
    • 0025836092 scopus 로고
    • Genetic counselling in facioscapulohumeral muscular dystrophy
    • Lunt, P.W. & Harper, P.S. Genetic counselling in facioscapulohumeral muscular dystrophy. J. Med. Genet. 28, 655-664 (1991).
    • (1991) J. Med. Genet. , vol.28 , pp. 655-664
    • Lunt, P.W.1    Harper, P.S.2
  • 38
    • 19144370503 scopus 로고    scopus 로고
    • Main clinical features of the three mapped autosomal recessive muscular dystrophies and estimated proportion of each form in 13 Brazilian families
    • Passos-Bueno, M.R. et al. Main clinical features of the three mapped autosomal recessive muscular dystrophies and estimated proportion of each form in 13 Brazilian families. J. Med. Genet. 33, 97-102 (1996).
    • (1996) J. Med. Genet. , vol.33 , pp. 97-102
    • Passos-Bueno, M.R.1
  • 39
    • 15444348850 scopus 로고    scopus 로고
    • A biochemical, genetic and clinical survey of autosomal recessive limb girdle muscular dystrophy in Turkey
    • Dincer, P. et al. A biochemical, genetic and clinical survey of autosomal recessive limb girdle muscular dystrophy in Turkey. Ann. Neurol. 42, 222-229 (1997).
    • (1997) Ann. Neurol. , vol.42 , pp. 222-229
    • Dincer, P.1
  • 40
    • 0030784953 scopus 로고    scopus 로고
    • Genetic epidemiology of muscular dystrophies resulting from sarcolgycan gene mutations
    • Fanin, M. et al. Genetic epidemiology of muscular dystrophies resulting from sarcolgycan gene mutations. J. Med. Genet. 34, 973-977 (1997).
    • (1997) J. Med. Genet. , vol.34 , pp. 973-977
    • Fanin, M.1
  • 41
    • 10544243791 scopus 로고    scopus 로고
    • A founder mutation in the γ-sarcoglycan gene of Gypsies possibly predating their migration out of India
    • Piccolo, F. et al. A founder mutation in the γ-sarcoglycan gene of Gypsies possibly predating their migration out of India. Hum. Mol. Genet. 5, 2019-2022 (1996).
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 2019-2022
    • Piccolo, F.1
  • 42
    • 0028231090 scopus 로고
    • The 1993-94 Genethon human genetic linkage map
    • Gyapay, G. et al. The 1993-94 Genethon human genetic linkage map. Nature Genet. 7, 246-339 (1994).
    • (1994) Nature Genet. , vol.7 , pp. 246-339
    • Gyapay, G.1
  • 43
    • 0025369509 scopus 로고
    • A 3-5 genome equivalent multi access YAC library: Construction, characterisation, screening and storage
    • Anand, R., Riley, J.H., Butler, R., Smith, J.C. & Markham, A.F. A 3-5 genome equivalent multi access YAC library: construction, characterisation, screening and storage. Nucleic Acids Res. 18, 1951-1956 (1990).
    • (1990) Nucleic Acids Res. , vol.18 , pp. 1951-1956
    • Anand, R.1    Riley, J.H.2    Butler, R.3    Smith, J.C.4    Markham, A.F.5
  • 44
    • 0025897085 scopus 로고
    • Yeast artificial chromosome libraries containing large inserts from mouse and human DNA
    • Larin, Z., Monaco, A.P. & Lehrach, H. Yeast artificial chromosome libraries containing large inserts from mouse and human DNA. Proc. Natl Acad. Sci. USA 88, 4123-4127 (1991).
    • (1991) Proc. Natl Acad. Sci. USA , vol.88 , pp. 4123-4127
    • Larin, Z.1    Monaco, A.P.2    Lehrach, H.3
  • 46
    • 0029932257 scopus 로고    scopus 로고
    • Construction and characterization of human chromosome 2-specific cosmid, fosmid, and PAC clone libraries
    • Gingrich, J.C. et al. Construction and characterization of human chromosome 2-specific cosmid, fosmid, and PAC clone libraries. Genomics 32, 65-74 (1996).
    • (1996) Genomics , vol.32 , pp. 65-74
    • Gingrich, J.C.1
  • 47
    • 0020793569 scopus 로고
    • A technique for radiolabelling DNA endonuclease fragementsto high specific activity
    • Feinberg, A.P. & Vogelstein, B. A technique for radiolabelling DNA endonuclease fragementsto high specific activity. Anat. Biochem. 132, 6-13 (1983).
    • (1983) Anat. Biochem. , vol.132 , pp. 6-13
    • Feinberg, A.P.1    Vogelstein, B.2
  • 48
    • 16944365196 scopus 로고    scopus 로고
    • A candidate gene for familial Mediterranean fever
    • The French FMF consortium
    • A candidate gene for familial Mediterranean fever. The French FMF consortium. Nature Genet. 17, 25-31 (1997).
    • (1997) Nature Genet. , vol.17 , pp. 25-31


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