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Volumn 29, Issue 3, 2008, Pages 351-360

The human intermediate filament database: Comprehensive information on a gene family involved in many human diseases

Author keywords

Database; Desmin; Epidermolysis bullosa; GFAP; Intermediate filament; Keratin; Lamin; Laminopathy; Neurofilament

Indexed keywords

COMPLEMENTARY DNA; DESMIN; INTERMEDIATE FILAMENT PROTEIN; KERATIN; LAMIN;

EID: 40549123948     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20652     Document Type: Review
Times cited : (294)

References (44)
  • 3
    • 33750379023 scopus 로고    scopus 로고
    • The laminopathies: The functional architecture of the nucleus and its contribution to disease
    • Burke B, Stewart CL. 2006. The laminopathies: the functional architecture of the nucleus and its contribution to disease. Annu Rev Genomics Hum Genet 7:369-405.
    • (2006) Annu Rev Genomics Hum Genet , vol.7 , pp. 369-405
    • Burke, B.1    Stewart, C.L.2
  • 4
    • 0034059075 scopus 로고    scopus 로고
    • Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
    • Cao H, Hegele RA. 2000. Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet 9:109-112.
    • (2000) Hum Mol Genet , vol.9 , pp. 109-112
    • Cao, H.1    Hegele, R.A.2
  • 5
    • 33845286555 scopus 로고    scopus 로고
    • Human laminopathies: Nuclei gone genetically awry
    • Capell BC, Collins FS. 2006. Human laminopathies: nuclei gone genetically awry. Nat Rev Genet 7:940-952.
    • (2006) Nat Rev Genet , vol.7 , pp. 940-952
    • Capell, B.C.1    Collins, F.S.2
  • 7
    • 0023853921 scopus 로고
    • The CpG dinucleotide and human genetic disease
    • Cooper DN, Youssoufian H. 1988. The CpG dinucleotide and human genetic disease. Hum Genet 78:151-155.
    • (1988) Hum Genet , vol.78 , pp. 151-155
    • Cooper, D.N.1    Youssoufian, H.2
  • 8
    • 0033987736 scopus 로고    scopus 로고
    • Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
    • den Dunnen JT, Antonarakis SE. 2000. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7-12.
    • (2000) Hum Mutat , vol.15 , pp. 7-12
    • den Dunnen, J.T.1    Antonarakis, S.E.2
  • 9
    • 0034908554 scopus 로고    scopus 로고
    • Nomenclature for the description of human sequence variations
    • den Dunnen JT, Antonarakis SE. 2001. Nomenclature for the description of human sequence variations. Hum Genet 109:121-124.
    • (2001) Hum Genet , vol.109 , pp. 121-124
    • den Dunnen, J.T.1    Antonarakis, S.E.2
  • 10
    • 6344278488 scopus 로고    scopus 로고
    • Intermediate filaments and tissue repair
    • DePianto D, Coulombe PA. 2004. Intermediate filaments and tissue repair. Exp Cell Res 301:68-76.
    • (2004) Exp Cell Res , vol.301 , pp. 68-76
    • DePianto, D.1    Coulombe, P.A.2
  • 11
    • 0022521382 scopus 로고
    • Intermediate filament typing of tumor cells in fine needle aspirates by means of monoclonal antibodies
    • Domagala W, Lubinski J, Weber K, Osborn M. 1986. Intermediate filament typing of tumor cells in fine needle aspirates by means of monoclonal antibodies. Acta Cytol 30:214-224.
    • (1986) Acta Cytol , vol.30 , pp. 214-224
    • Domagala, W.1    Lubinski, J.2    Weber, K.3    Osborn, M.4
  • 12
    • 0019198357 scopus 로고
    • Mutagenic deamination of cytosine residues in DNA
    • Duncan BK, Miller JH. 1980. Mutagenic deamination of cytosine residues in DNA. Nature 287:560-561.
    • (1980) Nature , vol.287 , pp. 560-561
    • Duncan, B.K.1    Miller, J.H.2
  • 13
    • 0032559341 scopus 로고    scopus 로고
    • A structural scaffolding of intermediate filaments in health and disease
    • Fuchs E, Cleveland DW. 1998. A structural scaffolding of intermediate filaments in health and disease. Science 279:514-519.
    • (1998) Science , vol.279 , pp. 514-519
    • Fuchs, E.1    Cleveland, D.W.2
  • 14
    • 0028283501 scopus 로고
    • Intermediate filaments: Structure, dynamics, function, and disease
    • Fuchs E, Weber K. 1994. Intermediate filaments: structure, dynamics, function, and disease. Annu Rev Biochem 63:345-382.
    • (1994) Annu Rev Biochem , vol.63 , pp. 345-382
    • Fuchs, E.1    Weber, K.2
  • 16
    • 0032247869 scopus 로고    scopus 로고
    • Structure, assembly, and dynamics of intermediate filaments
    • Herrmann H, Aebi U. 1998. Structure, assembly, and dynamics of intermediate filaments. Subcell Biochem 31:319-362.
    • (1998) Subcell Biochem , vol.31 , pp. 319-362
    • Herrmann, H.1    Aebi, U.2
  • 17
    • 3943078618 scopus 로고    scopus 로고
    • Intermediate filaments: Molecular structure, assembly mechanism, and integration into functionally distinct intracellular Scaffolds
    • Herrmann H, Aebi U. 2004. Intermediate filaments: molecular structure, assembly mechanism, and integration into functionally distinct intracellular Scaffolds. Annu Rev Biochem 73:749-789.
    • (2004) Annu Rev Biochem , vol.73 , pp. 749-789
    • Herrmann, H.1    Aebi, U.2
  • 18
    • 0034907507 scopus 로고    scopus 로고
    • Genes for intermediate filament proteins and the draft sequence of the human genome: Novel keratin genes and a surprisingly high number of pseudogenes related to keratin genes 8 and 18
    • Hesse M, Magin TM, Weber K. 2001. Genes for intermediate filament proteins and the draft sequence of the human genome: novel keratin genes and a surprisingly high number of pseudogenes related to keratin genes 8 and 18. J Cell Sci 114(Pt 14):2569-2575.
    • (2001) J Cell Sci , vol.114 , Issue.PART 14 , pp. 2569-2575
    • Hesse, M.1    Magin, T.M.2    Weber, K.3
  • 21
    • 7944238356 scopus 로고    scopus 로고
    • Keratins and skin disorders
    • Lane EB, McLean WH. 2004. Keratins and skin disorders. J Pathol 204:355-366.
    • (2004) J Pathol , vol.204 , pp. 355-366
    • Lane, E.B.1    McLean, W.H.2
  • 22
    • 0348011603 scopus 로고    scopus 로고
    • Functions of intermediate filaments in neuronal development and disease
    • Lariviere RC, Julien JP. 2004. Functions of intermediate filaments in neuronal development and disease. J Neurobiol 58:131-148.
    • (2004) J Neurobiol , vol.58 , pp. 131-148
    • Lariviere, R.C.1    Julien, J.P.2
  • 23
    • 0027503398 scopus 로고
    • Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex
    • Letai A, Coulombe PA, McCormick MB, Yu QC, Hutton E, Fuchs E. 1993. Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex. Proc Natl Acad Sci USA 90:3197-3201.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 3197-3201
    • Letai, A.1    Coulombe, P.A.2    McCormick, M.B.3    Yu, Q.C.4    Hutton, E.5    Fuchs, E.6
  • 25
    • 0024064963 scopus 로고
    • Mutations in the nuclear lamin proteins resulting in their aberrant assembly in the cytoplasm
    • Loewinger L, McKeon F. 1988. Mutations in the nuclear lamin proteins resulting in their aberrant assembly in the cytoplasm. EMBO J 7:2301-2309.
    • (1988) EMBO J , vol.7 , pp. 2301-2309
    • Loewinger, L.1    McKeon, F.2
  • 27
    • 6344273968 scopus 로고    scopus 로고
    • Intermediate filament proteins and their associated diseases
    • Omary MB, Coulombe PA, McLean WH. 2004. Intermediate filament proteins and their associated diseases. N Engl J Med 351:2087-2100.
    • (2004) N Engl J Med , vol.351 , pp. 2087-2100
    • Omary, M.B.1    Coulombe, P.A.2    McLean, W.H.3
  • 28
    • 0023001866 scopus 로고
    • Differential diagnosis of gastrointestinal carcinomas by using monoclonal antibodies specific for individual keratin polypeptides
    • Osborn M, van Lessen G, Weber K, Kloppel G, Altmannsberger M. 1986. Differential diagnosis of gastrointestinal carcinomas by using monoclonal antibodies specific for individual keratin polypeptides. Lab Invest 55:497-504.
    • (1986) Lab Invest , vol.55 , pp. 497-504
    • Osborn, M.1    van Lessen, G.2    Weber, K.3    Kloppel, G.4    Altmannsberger, M.5
  • 30
    • 0037407006 scopus 로고    scopus 로고
    • Phenotypes, genotypes and their contribution to understanding keratin function
    • Porter RM, Lane EB. 2003. Phenotypes, genotypes and their contribution to understanding keratin function. Trends Genet 19:278-285.
    • (2003) Trends Genet , vol.19 , pp. 278-285
    • Porter, R.M.1    Lane, E.B.2
  • 31
    • 33846057724 scopus 로고    scopus 로고
    • NCBI reference sequences (RefSeq): A curated non-redundant sequence database of genomes, transcripts and proteins
    • Pruitt KD, Tatusova T, Maglott DR. 2007. NCBI reference sequences (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins. Nucleic Acids Res 35(Database issue):D61-D65.
    • (2007) Nucleic Acids Res 35(Database issue)
    • Pruitt, K.D.1    Tatusova, T.2    Maglott, D.R.3
  • 32
    • 34147101803 scopus 로고    scopus 로고
    • Autosomal recessive juvenile onset cataract associated with mutation in BFSP1
    • Ramachandran RD, Perumalsamy V, Hejtmancik JF. 2007. Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. Hum Genet 121:475-482.
    • (2007) Hum Genet , vol.121 , pp. 475-482
    • Ramachandran, R.D.1    Perumalsamy, V.2    Hejtmancik, J.F.3
  • 33
    • 0021962103 scopus 로고
    • The use of antibodies to intermediate filament proteins in the differential diagnosis of lymphoma versus metastatic carcinoma
    • Ramaekers FC, Vroom TM, Moesker O, Kant A, Scholte G, Vooijs GP. 1985. The use of antibodies to intermediate filament proteins in the differential diagnosis of lymphoma versus metastatic carcinoma. Histochem J 17:57-70.
    • (1985) Histochem J , vol.17 , pp. 57-70
    • Ramaekers, F.C.1    Vroom, T.M.2    Moesker, O.3    Kant, A.4    Scholte, G.5    Vooijs, G.P.6
  • 34
    • 21644472656 scopus 로고    scopus 로고
    • The human type I keratin gene family: Characterization of new hair follicle specific members and evaluation of the chromosome 17q212 gene domain
    • Rogers MA, Winter H, Langbein L, Bleiler R, Schweizer J. 2004. The human type I keratin gene family: characterization of new hair follicle specific members and evaluation of the chromosome 17q212 gene domain. Differentiation 72:527-540.
    • (2004) Differentiation , vol.72 , pp. 527-540
    • Rogers, M.A.1    Winter, H.2    Langbein, L.3    Bleiler, R.4    Schweizer, J.5
  • 35
    • 15044364200 scopus 로고    scopus 로고
    • Characterization of new members of the human type II keratin gene family and a general evaluation of the keratin gene domain on chromosome 12q1313
    • Rogers MA, Edler L, Winter H, Langbein L, Beckmann I, Schweizer J. 2005. Characterization of new members of the human type II keratin gene family and a general evaluation of the keratin gene domain on chromosome 12q1313. J Invest Dermatol 124:536-544.
    • (2005) J Invest Dermatol , vol.124 , pp. 536-544
    • Rogers, M.A.1    Edler, L.2    Winter, H.3    Langbein, L.4    Beckmann, I.5    Schweizer, J.6
  • 39
    • 0033912260 scopus 로고    scopus 로고
    • Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C
    • Speckman RA, Garg A, Du F, Bennett L, Veile R, Arioglu E, Taylor SI, Lovett M, Bowcock AM. 2000. Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C. Am J Hum Genet 66:1192-1198.
    • (2000) Am J Hum Genet , vol.66 , pp. 1192-1198
    • Speckman, R.A.1    Garg, A.2    Du, F.3    Bennett, L.4    Veile, R.5    Arioglu, E.6    Taylor, S.I.7    Lovett, M.8    Bowcock, A.M.9
  • 40
    • 0022172443 scopus 로고
    • Intermediate filaments: Conformity and diversity of expression and structure
    • Steinert PM, Parry DA. 1985. Intermediate filaments: conformity and diversity of expression and structure. Annu Rev Cell Biol 1:41-65.
    • (1985) Annu Rev Cell Biol , vol.1 , pp. 41-65
    • Steinert, P.M.1    Parry, D.A.2
  • 41
    • 0037086445 scopus 로고    scopus 로고
    • Conserved segments 1A and 2B of the intermediate filament dimer: Their atomic structures and role in filament assembly
    • Strelkov SV, Herrmann H, Geisler N, Wedig T, Zimbelmann R, Aebi U, Burkhard P. 2002. Conserved segments 1A and 2B of the intermediate filament dimer: their atomic structures and role in filament assembly. EMBO J 21:1255-1266.
    • (2002) EMBO J , vol.21 , pp. 1255-1266
    • Strelkov, S.V.1    Herrmann, H.2    Geisler, N.3    Wedig, T.4    Zimbelmann, R.5    Aebi, U.6    Burkhard, P.7
  • 42
    • 0027968068 scopus 로고
    • CLUSTAL W: Improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice
    • Thompson JD, Higgins DG, Gibson TJ. 1994. CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res 22:4673-4680.
    • (1994) Nucleic Acids Res , vol.22 , pp. 4673-4680
    • Thompson, J.D.1    Higgins, D.G.2    Gibson, T.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.