메뉴 건너뛰기




Volumn 2, Issue 3, 2001, Pages 223-228

Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia

Author keywords

[No Author keywords available]

Indexed keywords

CHUK PROTEIN, HUMAN; CYTOKINE; I KAPPA B KINASE; IKBKB PROTEIN, HUMAN; IKBKE PROTEIN, HUMAN; IMMUNOGLOBULIN; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; IMMUNOGLOBULIN M; PROTEIN SERINE THREONINE KINASE;

EID: 0035286726     PISSN: 15292908     EISSN: None     Source Type: Journal    
DOI: 10.1038/85277     Document Type: Article
Times cited : (331)

References (30)
  • 3
    • 0028183402 scopus 로고
    • Defective expression of CD40 ligand on T cells causes "X-linked immunodeficiency with hyper-IgM (HIGMI)"
    • Kroczek, R. A. et al. Defective expression of CD40 ligand on T cells causes "X-linked immunodeficiency with hyper-IgM (HIGMI)". Immunol. Rev. 138, 39-59 (1994).
    • (1994) Immunol. Rev. , vol.138 , pp. 39-59
    • Kroczek, R.A.1
  • 5
    • 0029052398 scopus 로고
    • Cellular interaction in germinal centers. Roles of CD40 ligand and B7-2 in established germinal centers
    • Han, S. et al. Cellular interaction in germinal centers. Roles of CD40 ligand and B7-2 in established germinal centers. J. Immunol. 155, 556-567 (1995).
    • (1995) J. Immunol. , vol.155 , pp. 556-567
    • Han, S.1
  • 6
    • 0028486131 scopus 로고
    • Mice deficient for the CD40 ligand
    • Xu, J. et al. Mice deficient for the CD40 ligand. Immunity 1, 423-431 (1994).
    • (1994) Immunity , vol.1 , pp. 423-431
    • Xu, J.1
  • 7
    • 0028135424 scopus 로고
    • Humoral immune responses in CD40 ligand-deficient mice
    • Renshaw, B. R. et al. Humoral immune responses in CD40 ligand-deficient mice. J. Exp. Med. 180, 1889-1900 (1994).
    • (1994) J. Exp. Med. , vol.180 , pp. 1889-1900
    • Renshaw, B.R.1
  • 8
    • 0027414691 scopus 로고
    • CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome
    • Allen, R. C. et al. CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. Science 259, 990-993 (1993).
    • (1993) Science , vol.259 , pp. 990-993
    • Allen, R.C.1
  • 9
    • 0033560934 scopus 로고    scopus 로고
    • Defects of T-cell effector function and post-thymic maturation in X- linked hyper-IgM syndrome
    • Jain, A. et al. Defects of T-cell effector function and post-thymic maturation in X- linked hyper-IgM syndrome. J. Clin. Invest. 103, 1151-1158 (1999).
    • (1999) J. Clin. Invest. , vol.103 , pp. 1151-1158
    • Jain, A.1
  • 10
    • 0032811085 scopus 로고    scopus 로고
    • Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia
    • Monreal, A. W. et al. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nature Genet. 22, 366-369 (1999).
    • (1999) Nature Genet. , vol.22 , pp. 366-369
    • Monreal, A.W.1
  • 11
    • 9344250077 scopus 로고    scopus 로고
    • X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein
    • Kere, J. et al. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nature Genet. 13, 409-416 (1996).
    • (1996) Nature Genet. , vol.13 , pp. 409-416
    • Kere, J.1
  • 12
    • 0033051635 scopus 로고    scopus 로고
    • Isolation of full-length cDNA and chromosomal localization of human NF-κB modulator NEMO to Xq28
    • Jin, D. Y. & Jeang, K. T. Isolation of full-length cDNA and chromosomal localization of human NF-κB modulator NEMO to Xq28. J. Biomed. Sci. 6, 115-120 (1999).
    • (1999) J. Biomed. Sci. , vol.6 , pp. 115-120
    • Jin, D.Y.1    Jeang, K.T.2
  • 13
    • 0032568792 scopus 로고    scopus 로고
    • Complementation cloning of NEMO, a component of the IκB kinase complex essential for NF-κB activation
    • Yamaoka, S. et al. Complementation cloning of NEMO, a component of the IκB kinase complex essential for NF-κB activation. Cell 93, 1231-1240 (1998).
    • (1998) Cell , vol.93 , pp. 1231-1240
    • Yamaoka, S.1
  • 14
    • 0034175930 scopus 로고    scopus 로고
    • The IKK complex: An integrator of all signals that activate NF-κB?
    • Israel, A. The IKK complex: an integrator of all signals that activate NF-κB? Trends Cell. Biol. 10, 129-133 (2000).
    • (2000) Trends Cell. Biol. , vol.10 , pp. 129-133
    • Israel, A.1
  • 15
    • 0031897632 scopus 로고    scopus 로고
    • NF-κB and Rel proteins: Evolutionarily conserved mediators of immune responses
    • Ghosh, S., May, M. J. & Kopp, E. B. NF-κB and Rel proteins: evolutionarily conserved mediators of immune responses. Annu. Rev. Immunol. 16, 225-260 (1998).
    • (1998) Annu. Rev. Immunol. , vol.16 , pp. 225-260
    • Ghosh, S.1    May, M.J.2    Kopp, E.B.3
  • 16
    • 0033106149 scopus 로고    scopus 로고
    • A ubiquitin ligase complex essential for the NF-κB, Wnt/Wingless, and Hedgehog signaling pathways
    • Maniatis, T. A ubiquitin ligase complex essential for the NF-κB, Wnt/Wingless, and Hedgehog signaling pathways. Genes Dev. 13, 505-510 (1999).
    • (1999) Genes Dev. , vol.13 , pp. 505-510
    • Maniatis, T.1
  • 17
    • 0034713270 scopus 로고    scopus 로고
    • Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium
    • Smahi, A. et al. Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature 405, 466-472 (2000).
    • (2000) Nature , vol.405 , pp. 466-472
    • Smahi, A.1
  • 18
    • 0033658369 scopus 로고    scopus 로고
    • A Novel X-Linked Disorder of Immune Deficiency and Hypohidrotic Ectodermal Dysplasia Is Allelic to Incontinentia Pigmenti and Due to Mutations in IKK-γ (NEMO)
    • Zonana, J. et al. A Novel X-Linked Disorder of Immune Deficiency and Hypohidrotic Ectodermal Dysplasia Is Allelic to Incontinentia Pigmenti and Due to Mutations in IKK-γ (NEMO). Am. J. Hum. Genet. 67 (2000).
    • (2000) Am. J. Hum. Genet. , vol.67
    • Zonana, J.1
  • 19
    • 0034680145 scopus 로고    scopus 로고
    • Toll-like receptors in the induction of the innate immune response
    • Aderem, A. & Ulevitch, R. J. Toll-like receptors in the induction of the innate immune response. Nature 406, 782-787 (2000).
    • (2000) Nature , vol.406 , pp. 782-787
    • Aderem, A.1    Ulevitch, R.J.2
  • 21
    • 0032476611 scopus 로고    scopus 로고
    • Human immunoglobulin (Ig)M+IgD+ peripheral blood B cells expressing the CD27 cell surface antigen carry somatically mutated variable region genes: CD27 as a general marker for somatically mutated (memory) B cells
    • Klein, U., Rajewsky, K. & Kuppers, R. Human immunoglobulin (Ig)M+IgD+ peripheral blood B cells expressing the CD27 cell surface antigen carry somatically mutated variable region genes: CD27 as a general marker for somatically mutated (memory) B cells. J. Exp. Med. 188, 1679-1689 (1998).
    • (1998) J. Exp. Med. , vol.188 , pp. 1679-1689
    • Klein, U.1    Rajewsky, K.2    Kuppers, R.3
  • 22
    • 0031944607 scopus 로고    scopus 로고
    • CD40 and CD154 in cell-mediated immunity
    • Grewal, I. S. & Flavell, R. A. CD40 and CD154 in cell-mediated immunity. Annu. Rev. Immunol. 16, 111-135 (1998).
    • (1998) Annu. Rev. Immunol. , vol.16 , pp. 111-135
    • Grewal, I.S.1    Flavell, R.A.2
  • 23
    • 0032146063 scopus 로고    scopus 로고
    • TNF receptor-associated factor-3 signaling mediates activation of p38 and Jun N-terminal kinase, cytokine secretion, and Ig production following ligation of CD40 on human B cells
    • Grammer, A. C. et al. TNF receptor-associated factor-3 signaling mediates activation of p38 and Jun N-terminal kinase, cytokine secretion, and Ig production following ligation of CD40 on human B cells. J. Immunol. 161, 1183-1193 (1998).
    • (1998) J. Immunol. , vol.161 , pp. 1183-1193
    • Grammer, A.C.1
  • 24
    • 0030587829 scopus 로고    scopus 로고
    • Differential activation of the ERK, JNK, and p38 mitogen-activated protein kinases by CD40 and the B cell antigen receptor
    • Sutherland, C. L., Heath, A. W., Pelech, S. L., Young, P. R. & Gold, M. R. Differential activation of the ERK, JNK, and p38 mitogen-activated protein kinases by CD40 and the B cell antigen receptor. J. Immunol. 157, 3381-3390 (1996).
    • (1996) J. Immunol. , vol.157 , pp. 3381-3390
    • Sutherland, C.L.1    Heath, A.W.2    Pelech, S.L.3    Young, P.R.4    Gold, M.R.5
  • 25
    • 0028956699 scopus 로고
    • Activated T cells induce interleukin-12 production by monocytes via CD40-CD40 ligand interaction
    • Shu, U. et al. Activated T cells induce interleukin-12 production by monocytes via CD40-CD40 ligand interaction. Eur. J. Immunol. 25, 1125-1128 (1995).
    • (1995) Eur. J. Immunol. , vol.25 , pp. 1125-1128
    • Shu, U.1
  • 26
    • 0030831210 scopus 로고    scopus 로고
    • A human homologue of the Drosophila Toll protein signals activation of adaptive immunity
    • Medzhitov, R., Preston-Hurlburt, P. & Janeway, C. A. Jr A human homologue of the Drosophila Toll protein signals activation of adaptive immunity. Nature 388, 394-397 (1997).
    • (1997) Nature , vol.388 , pp. 394-397
    • Medzhitov, R.1    Preston-Hurlburt, P.2    Janeway Jr., C.A.3
  • 27
    • 0033761628 scopus 로고    scopus 로고
    • Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors
    • Yan, M. et al. Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors. Science 290, 523-527 (2000).
    • (2000) Science , vol.290 , pp. 523-527
    • Yan, M.1
  • 28
    • 0033561039 scopus 로고    scopus 로고
    • TRAF6 deficiency results in osteopetrosis and defective interleukin-1, CD40, and LPS signaling
    • Lomaga, M. A. et al. TRAF6 deficiency results in osteopetrosis and defective interleukin-1, CD40, and LPS signaling. Genes Dev. 13, 1015-1024 (1999).
    • (1999) Genes Dev. , vol.13 , pp. 1015-1024
    • Lomaga, M.A.1
  • 29
    • 6544270833 scopus 로고    scopus 로고
    • Severe osteopetrosis, defective interleukin-1 signalling and lymph node organogenesis in TRAF6-deficient mice
    • Naito, A. et al. Severe osteopetrosis, defective interleukin-1 signalling and lymph node organogenesis in TRAF6-deficient mice. Genes Cells 4, 353-362 (1999).
    • (1999) Genes Cells , vol.4 , pp. 353-362
    • Naito, A.1
  • 30
    • 0034644474 scopus 로고    scopus 로고
    • Activation of the IκB kinase complex by TRAF6 requires a dimeric ubiquitin-conjugating enzyme complex and a unique polyubiquitin chain
    • Deng, L et al. Activation of the IκB kinase complex by TRAF6 requires a dimeric ubiquitin-conjugating enzyme complex and a unique polyubiquitin chain. Cell 103, 351-361 (2000).
    • (2000) Cell , vol.103 , pp. 351-361
    • Deng, L.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.