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Volumn 27, Issue 12, 2006, Pages 1200-1208

Immunodeficiency mutation databases (IDbases)

Author keywords

Genotype phenotype correlations; Immunodeficiency; Immunogenetics; Immunology; Mutation database; Mutation statistics

Indexed keywords

ARGININE; DNA; MESSENGER RNA; PROTEIN; TRYPTOPHAN;

EID: 33751011339     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20405     Document Type: Review
Times cited : (105)

References (59)
  • 3
    • 0031612929 scopus 로고    scopus 로고
    • Recommendarions for a nomenclature system for human gene mutations
    • Nomenclature Working Group
    • Antonarakis SE. 1998. Recommendarions for a nomenclature system for human gene mutations. Nomenclature Working Group. Hum Mutat 11:1-3.
    • (1998) Hum Mutat , vol.11 , pp. 1-3
    • Antonarakis, S.E.1
  • 4
    • 0032231355 scopus 로고    scopus 로고
    • Adenosinc deaminase deficiency: Genotype-phenotype correlations based on expressed activity of 29 mutant alleles
    • Arredondo-Vega FX, Santisteban I, Daniels S, Toutain S, Hershfield MS. 1998. Adenosinc deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. Am J Hum Genet 63:1049-1059.
    • (1998) Am J Hum Genet , vol.63 , pp. 1049-1059
    • Arredondo-Vega, F.X.1    Santisteban, I.2    Daniels, S.3    Toutain, S.4    Hershfield, M.S.5
  • 6
    • 0035125698 scopus 로고    scopus 로고
    • A review of the reported defects in the human Cl esterase inhibitor gene producing hereditary angioedema including four new mutations
    • Bowen B, Hawk JJ, Sibunka S, Hovick S, Weiler JM. 2001. A review of the reported defects in the human Cl esterase inhibitor gene producing hereditary angioedema including four new mutations. Clin Immunol 98:157-163.
    • (2001) Clin Immunol , vol.98 , pp. 157-163
    • Bowen, B.1    Hawk, J.J.2    Sibunka, S.3    Hovick, S.4    Weiler, J.M.5
  • 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
  • 11
    • 13144252181 scopus 로고    scopus 로고
    • Hyper-immunoglobulin M syndromes caused by intrinsic B-lymphocyte defects
    • Durandy A, Revy P, Imai K, Fischer A. 2005. Hyper-immunoglobulin M syndromes caused by intrinsic B-lymphocyte defects. Immunol Rev 203:67-79.
    • (2005) Immunol Rev , vol.203 , pp. 67-79
    • Durandy, A.1    Revy, P.2    Imai, K.3    Fischer, A.4
  • 14
    • 0035832510 scopus 로고    scopus 로고
    • Primary immunodeficiency diseases: An experimental model for molecular medicine
    • Fischer A. 2001. Primary immunodeficiency diseases: an experimental model for molecular medicine. Lancet 357:1863-1869.
    • (2001) Lancet , vol.357 , pp. 1863-1869
    • Fischer, A.1
  • 17
    • 0141853011 scopus 로고    scopus 로고
    • Genotype is an impottant determinant of phenotype in adenosine deaminase deficiency
    • Hershfield MS. 2003. Genotype is an impottant determinant of phenotype in adenosine deaminase deficiency. Curr Opin Immunol 15:571-577.
    • (2003) Curr Opin Immunol , vol.15 , pp. 571-577
    • Hershfield, M.S.1
  • 18
    • 2942717809 scopus 로고    scopus 로고
    • WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype
    • Imai K, Nonoyama S, Ochs HD. 2003. WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype. Curr Opin Allergy Clin Immunol 3:427-436.
    • (2003) Curr Opin Allergy Clin Immunol , vol.3 , pp. 427-436
    • Imai, K.1    Nonoyama, S.2    Ochs, H.D.3
  • 20
    • 0033863075 scopus 로고    scopus 로고
    • Structure-function effects in primary immunodeficiencies
    • Korpi M, Väliaho J, Vihinen M. 2000. Structure-function effects in primary immunodeficiencies. Scand J Immunol 52:226-232.
    • (2000) Scand J Immunol , vol.52 , pp. 226-232
    • Korpi, M.1    Väliaho, J.2    Vihinen, M.3
  • 26
    • 0034080364 scopus 로고    scopus 로고
    • X-linked immunodeficiency with hyper-IgM (XHIM)
    • Notarangelo LD, Hayward AR. 2000. X-linked immunodeficiency with hyper-IgM (XHIM). Clin Exp Immunol 120:399-405.
    • (2000) Clin Exp Immunol , vol.120 , pp. 399-405
    • Notarangelo, L.D.1    Hayward, A.R.2
  • 29
    • 0033547358 scopus 로고    scopus 로고
    • Pleckstrin homology domains of Tec family protein kinases
    • Okoh MP, Vihinen M. 1999. Pleckstrin homology domains of Tec family protein kinases. Biochem Biophys Res Commun 265:151-157.
    • (1999) Biochem Biophys Res Commun , vol.265 , pp. 151-157
    • Okoh, M.P.1    Vihinen, M.2
  • 30
    • 0030569351 scopus 로고    scopus 로고
    • Sequence specificity in CpG mutation hotspots
    • Ollila J, Lappalainen I, Vihinen M. 1996. Sequence specificity in CpG mutation hotspots. FEBS Lett 396:119-122.
    • (1996) FEBS Lett , vol.396 , pp. 119-122
    • Ollila, J.1    Lappalainen, I.2    Vihinen, M.3
  • 31
    • 18744407884 scopus 로고    scopus 로고
    • KinMutBase: A registry of disease-causing murarions in protein kinase domains
    • Ortutay C, Väliaho J, Stenberg K, Vihinen M. 2005. KinMutBase: a registry of disease-causing murarions in protein kinase domains. Hum Mutat 25:435-442.
    • (2005) Hum Mutat , vol.25 , pp. 435-442
    • Ortutay, C.1    Väliaho, J.2    Stenberg, K.3    Vihinen, M.4
  • 33
    • 0033400946 scopus 로고    scopus 로고
    • MUTbase: Maintenance and analysis of distributed mutation databases
    • Rükonen P, Vihinen M. 1999. MUTbase: maintenance and analysis of distributed mutation databases. Bioinformatics 15:852-859.
    • (1999) Bioinformatics , vol.15 , pp. 852-859
    • Rükonen, P.1    Vihinen, M.2
  • 34
    • 0033669220 scopus 로고    scopus 로고
    • Structural basis of Wiskett-Aldrich syndrome causing mutations in the WH1 domain
    • Rong SB, Vihinen M. 2000. Structural basis of Wiskett-Aldrich syndrome causing mutations in the WH1 domain. J Mol Med 78:530-537.
    • (2000) J Mol Med , vol.78 , pp. 530-537
    • Rong, S.B.1    Vihinen, M.2
  • 35
    • 0034151430 scopus 로고    scopus 로고
    • Structural basis of Bloom syndrome (BS) causing mutations in the BLM helicase domain
    • Rong SB, Väliaho J, Vihinen M. 2000. Structural basis of Bloom syndrome (BS) causing mutations in the BLM helicase domain. Mol Med 6:155-164.
    • (2000) Mol Med , vol.6 , pp. 155-164
    • Rong, S.B.1    Väliaho, J.2    Vihinen, M.3
  • 37
    • 12144287918 scopus 로고    scopus 로고
    • Online registry of genetic and clinical immunodeficiency diagnostic laboratories, IDdiagnostics
    • Samarghitean C, Väliaho J, Vihinen M. 2004. Online registry of genetic and clinical immunodeficiency diagnostic laboratories, IDdiagnostics. J Clin Immunol 24:53-61.
    • (2004) J Clin Immunol , vol.24 , pp. 53-61
    • Samarghitean, C.1    Väliaho, J.2    Vihinen, M.3
  • 38
    • 2942689385 scopus 로고    scopus 로고
    • Conservation and covariance in PH domain sequences: Physicochemical profile and information theoretical analysis of XLA-causing mutations in the Btk PH domain
    • Shen B, Vihinen M. 2004. Conservation and covariance in PH domain sequences: physicochemical profile and information theoretical analysis of XLA-causing mutations in the Btk PH domain. Protein Eng Des Sel 17:267-276.
    • (2004) Protein Eng des Sel , vol.17 , pp. 267-276
    • Shen, B.1    Vihinen, M.2
  • 40
    • 33750971454 scopus 로고    scopus 로고
    • Bioinformatical analysis of protein structure-function relationships: Case study of leukocyte elastase (ELA2) missense mutations
    • Thusberg J, Vihinen M. 2006. Bioinformatical analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations. Hum Mutat 27:1230-1243.
    • (2006) Hum Mutat , vol.27 , pp. 1230-1243
    • Thusberg, J.1    Vihinen, M.2
  • 43
    • 23944482518 scopus 로고    scopus 로고
    • Distribution of immunodeficiency fact files with XML - From Web to WAP
    • Väliaho J, Riikonen P, Vihinen M. 2005. Distribution of immunodeficiency fact files with XML-from Web to WAP. BMC Med Inform Decis Mak 5:21.
    • (2005) BMC Med Inform Decis Mak , vol.5 , pp. 21
    • Väliaho, J.1    Riikonen, P.2    Vihinen, M.3
  • 44
    • 33750973379 scopus 로고    scopus 로고
    • BTKbase: The mutation database for X-linked agammaglobulinemia
    • Väliaho J, Smith CIE, Vihinen V. 2006. BTKbase: the mutation database for X-linked agammaglobulinemia. Hum Mutat 27:1209-1217.
    • (2006) Hum Mutat , vol.27 , pp. 1209-1217
    • Väliaho, J.1    Smith, C.I.E.2    Vihinen, V.3
  • 45
    • 0028641301 scopus 로고
    • Structural basis of SH2 domain mutations in X-linked agammaglobulinemia
    • Vihinen M, Nilsson L, Smith CIE. 1994a. Structural basis of SH2 domain mutations in X-linked agammaglobulinemia. Biochem Biophys Res Commun 205:1270-1277.
    • (1994) Biochem Biophys Res Commun , vol.205 , pp. 1270-1277
    • Vihinen, M.1    Nilsson, L.2    Smith, C.I.E.3
  • 54
    • 33750968008 scopus 로고    scopus 로고
    • Primary immunodeficiencies: Genotype-phenotype correlations
    • Falus A, editor. Hoboken, NJ: John Wiley & Sons, p
    • Vihinen M, Durandy A. 2006. Primary immunodeficiencies: genotype-phenotype correlations. In: Falus A, editor. Immunogenetics and human disease. Hoboken, NJ: John Wiley & Sons, p 443-460.
    • (2006) Immunogenetics and Human Disease , pp. 443-460
    • Vihinen, M.1    Durandy, A.2
  • 56
    • 1542577828 scopus 로고    scopus 로고
    • The amino-acid mutational spectrum of human genetic disease
    • Vitkup D, Sander C, Church GM. 2003. The amino-acid mutational spectrum of human genetic disease. Genome Biol 4:R72.
    • (2003) Genome Biol , vol.4
    • Vitkup, D.1    Sander, C.2    Church, G.M.3
  • 58
    • 0029927415 scopus 로고    scopus 로고
    • The rate of CpG mutation in Alu repetitive elements within the p53 tumor suppressor gene in the primate germline
    • Yang AS, Gonzalgo ML, Zingg JM, Millar RP, Buckley JD, Jones PA. 1996. The rate of CpG mutation in Alu repetitive elements within the p53 tumor suppressor gene in the primate germline. J Mol Biol 258:240-250.
    • (1996) J Mol Biol , vol.258 , pp. 240-250
    • Yang, A.S.1    Gonzalgo, M.L.2    Zingg, J.M.3    Millar, R.P.4    Buckley, J.D.5    Jones, P.A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.