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Volumn 4, Issue 4, 2009, Pages

Screening for C3 deficiency in newborns using microarrays

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT COMPONENT C3; IMMUNOGLOBULIN A;

EID: 65449143570     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0005321     Document Type: Article
Times cited : (23)

References (23)
  • 1
    • 0032879799 scopus 로고    scopus 로고
    • Primary immunodeficiency diseases: Report of an IUIS Scientific Committee
    • International Union of Immunological Societies
    • International Union of Immunological Societies (1999) Primary immunodeficiency diseases: report of an IUIS Scientific Committee. Clin Exp Immunol 118(Suppl 1): 1-28.
    • (1999) Clin Exp Immunol , vol.118 , Issue.SUPPL. 1 , pp. 1-28
  • 3
    • 33644830187 scopus 로고    scopus 로고
    • Clinical aspects and molecular basis of primary deficiencies of complement component C3 and its regulatory proteins factor I and factor H
    • Reis ES, Falcão DA, Isaac L (2006) Clinical aspects and molecular basis of primary deficiencies of complement component C3 and its regulatory proteins factor I and factor H. Scand J Immunol 63: 155-168.
    • (2006) Scand J Immunol , vol.63 , pp. 155-168
    • Reis, E.S.1    Falcão, D.A.2    Isaac, L.3
  • 4
    • 0028329925 scopus 로고
    • Complement C3 deficiency: Human, animal, and experimental models
    • Singer L, Colten HR, Wetsel RA (1994) Complement C3 deficiency: human, animal, and experimental models. Pathobiology 62: 14-28.
    • (1994) Pathobiology , vol.62 , pp. 14-28
    • Singer, L.1    Colten, H.R.2    Wetsel, R.A.3
  • 5
    • 27444434171 scopus 로고    scopus 로고
    • A case of C3 deficiency with a novel homozygous two-base deletion in the C3 gene
    • Fujioka H, Ariga T, Yoda M, Ohsaki M, Horiuchi K, et al. (2005) A case of C3 deficiency with a novel homozygous two-base deletion in the C3 gene. Am J Med Genet A 138: 399-400.
    • (2005) Am J Med Genet A , vol.138 , pp. 399-400
    • Fujioka, H.1    Ariga, T.2    Yoda, M.3    Ohsaki, M.4    Horiuchi, K.5
  • 6
    • 41949133028 scopus 로고    scopus 로고
    • The first confirmed case with C3 deficiency caused by compound heterozygous mutations in the C3 gene; a new aspect of pathogenesis for C3 deficiency
    • Kida M, Fujioka H, Kosaka Y, Hayashi K, Sakiyama Y, et al. (2008) The first confirmed case with C3 deficiency caused by compound heterozygous mutations in the C3 gene; a new aspect of pathogenesis for C3 deficiency. Blood Cells Mol Dis 40: 410-413.
    • (2008) Blood Cells Mol Dis , vol.40 , pp. 410-413
    • Kida, M.1    Fujioka, H.2    Kosaka, Y.3    Hayashi, K.4    Sakiyama, Y.5
  • 7
    • 57649170093 scopus 로고    scopus 로고
    • Human C3 deficiency associated with impairments in dendritic cell differentiation, memory B cells, and regulatory T cells
    • Ghannam A, Pernollet M, Fauquert JL, Monnier N, Ponard D, et al. (2008) Human C3 deficiency associated with impairments in dendritic cell differentiation, memory B cells, and regulatory T cells. J Immunol 181: 5158-5166.
    • (2008) J Immunol , vol.181 , pp. 5158-5166
    • Ghannam, A.1    Pernollet, M.2    Fauquert, J.L.3    Monnier, N.4    Ponard, D.5
  • 10
    • 0028019585 scopus 로고
    • Inherited human complement C3 deficiency. An amino acid substitution in the beta-chain (ASP549 to ASN) impairs C3 secretion
    • Singer L, Whitehead WT, Akama H, Katz Y, Fishelson Z, et al. (1994) Inherited human complement C3 deficiency. An amino acid substitution in the beta-chain (ASP549 to ASN) impairs C3 secretion. J Biol Chem 269: 28494-28499.
    • (1994) J Biol Chem , vol.269 , pp. 28494-28499
    • Singer, L.1    Whitehead, W.T.2    Akama, H.3    Katz, Y.4    Fishelson, Z.5
  • 11
    • 0027970144 scopus 로고
    • A hereditary C3 deficiency due to aberrant splicing of exon 10
    • Huang JL, Lin CY (1994) A hereditary C3 deficiency due to aberrant splicing of exon 10. Clin Immunol Immunopathol 73: 267-273.
    • (1994) Clin Immunol Immunopathol , vol.73 , pp. 267-273
    • Huang, J.L.1    Lin, C.Y.2
  • 12
    • 0035219868 scopus 로고    scopus 로고
    • Identification of a novel mutation (Tyr1081Ter) in sisters with hereditary component C3 deficiency and SLE-like symptoms
    • Matsuyama W, Nakagawa M, Takashima H, Muranaga F, Sano Y, et al. (2001) Identification of a novel mutation (Tyr1081Ter) in sisters with hereditary component C3 deficiency and SLE-like symptoms. Hum Mutat 17: 79.
    • (2001) Hum Mutat , vol.17 , pp. 79
    • Matsuyama, W.1    Nakagawa, M.2    Takashima, H.3    Muranaga, F.4    Sano, Y.5
  • 14
    • 1242314816 scopus 로고    scopus 로고
    • Nonsense-codon-mediated decay in human hereditary complement C3 deficiency
    • Reis ES, Nudelman V, Isaac L (2004) Nonsense-codon-mediated decay in human hereditary complement C3 deficiency. Immunogenetics 55: 667-673.
    • (2004) Immunogenetics , vol.55 , pp. 667-673
    • Reis, E.S.1    Nudelman, V.2    Isaac, L.3
  • 15
    • 20144378605 scopus 로고    scopus 로고
    • Molecular analysis of a novel hereditary C3 deficiency with systemic lupus erythematosus
    • Tsukamoto H, Horiuchi T, Kokuba H, Nagae S, Nishizaka H, et al. (2005) Molecular analysis of a novel hereditary C3 deficiency with systemic lupus erythematosus. Biochem Biophys Res Commun 330: 298-304.
    • (2005) Biochem Biophys Res Commun , vol.330 , pp. 298-304
    • Tsukamoto, H.1    Horiuchi, T.2    Kokuba, H.3    Nagae, S.4    Nishizaka, H.5
  • 16
    • 38849113202 scopus 로고    scopus 로고
    • What a drop can do: Dried blood spots as a minimally invasive method for integrating biomarkers into population-based research
    • McDade TW, Williams S, Snodgrass JJ (2007) What a drop can do: dried blood spots as a minimally invasive method for integrating biomarkers into population-based research. Demography 44: 899-925.
    • (2007) Demography , vol.44 , pp. 899-925
    • McDade, T.W.1    Williams, S.2    Snodgrass, J.J.3
  • 17
    • 25444482793 scopus 로고    scopus 로고
    • Simultaneous measurement of 25 inflammatory markers and neurotrophins in neonatal dried blood spots by immunoassay with xMAP technology
    • Skogstrand K, Thorsen P, Nørgaard-Pedersen B, Schendel DE, Sørensen LC, et al. (2005) Simultaneous measurement of 25 inflammatory markers and neurotrophins in neonatal dried blood spots by immunoassay with xMAP technology. Clin Chem 51: 1854-1866.
    • (2005) Clin Chem , vol.51 , pp. 1854-1866
    • Skogstrand, K.1    Thorsen, P.2    Nørgaard-Pedersen, B.3    Schendel, D.E.4    Sørensen, L.C.5
  • 18
    • 65449138167 scopus 로고    scopus 로고
    • Jeffrey Modell Foundation breaking news:, Accessed 13 January 2009
    • Jeffrey Modell Foundation breaking news: Newborn screening for primary immunodeficiencies (2009) http://www.info4pi.org/ newsletters_publications/index.cfm?section=newspubs&content= breakingnews&newsid=197&CFID=32118322&CFTOKEN=51295278 Accessed 13 January 2009.
    • (2009) Newborn screening for primary immunodeficiencies
  • 22
    • 13444301418 scopus 로고    scopus 로고
    • Development of population-based newborn screening for severe combined immunodeficiency
    • Chan K, Puck JM (2005) Development of population-based newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol 115: 391-398.
    • (2005) J Allergy Clin Immunol , vol.115 , pp. 391-398
    • Chan, K.1    Puck, J.M.2
  • 23
    • 34948911792 scopus 로고    scopus 로고
    • Design of recombinant antibody microarrays for serum protein profiling: Targeting of complement proteins
    • Ingvarsson J, Larsson A, Sjöholm AG, Truedsson L, Jansson B, et al. (2007) Design of recombinant antibody microarrays for serum protein profiling: targeting of complement proteins. J Proteome Res 6: 3527-3536.
    • (2007) J Proteome Res , vol.6 , pp. 3527-3536
    • Ingvarsson, J.1    Larsson, A.2    Sjöholm, A.G.3    Truedsson, L.4    Jansson, B.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.