메뉴 건너뛰기




Volumn 86, Issue 4, 2010, Pages 650-652

The LCR at the IKBKG Locus Is Prone to Recombine

Author keywords

[No Author keywords available]

Indexed keywords

GD11 GENE; GENE; GENE EXPRESSION; GENE FUNCTION; GENE LOCUS; GENE MUTATION; HUMAN; IKBKG GENE; LETTER; MENTAL DEFICIENCY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; X CHROMOSOME;

EID: 77950330289     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.12.019     Document Type: Letter
Times cited : (6)

References (18)
  • 1
    • 71449109112 scopus 로고    scopus 로고
    • Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination
    • Vandewalle J., Van Esch H., Govaerts K., Verbeeck J., Zweier C., Madrigal I., Mila M., Pijkels E., Fernandez I., Kohlhase J., et al. Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination. Am. J. Hum. Genet. 85 (2009) 809-822
    • (2009) Am. J. Hum. Genet. , vol.85 , pp. 809-822
    • Vandewalle, J.1    Van Esch, H.2    Govaerts, K.3    Verbeeck, J.4    Zweier, C.5    Madrigal, I.6    Mila, M.7    Pijkels, E.8    Fernandez, I.9    Kohlhase, J.10
  • 2
    • 33750312876 scopus 로고    scopus 로고
    • Posttranslational modifications of NEMO and its partners in NF-kappaB signaling
    • Sebban H., Yamaoka S., and Courtois G. Posttranslational modifications of NEMO and its partners in NF-kappaB signaling. Trends Cell Biol. 16 (2006) 569-577
    • (2006) Trends Cell Biol. , vol.16 , pp. 569-577
    • Sebban, H.1    Yamaoka, S.2    Courtois, G.3
  • 3
    • 33750072932 scopus 로고    scopus 로고
    • Multiple regulatory regions and tissue-specific transcription initiation mediate the expression of NEMO/IKKgamma gene
    • Fusco F., Mercadante V., Miano M.G., and Ursini M.V. Multiple regulatory regions and tissue-specific transcription initiation mediate the expression of NEMO/IKKgamma gene. Gene 383 (2006) 99-107
    • (2006) Gene , vol.383 , pp. 99-107
    • Fusco, F.1    Mercadante, V.2    Miano, M.G.3    Ursini, M.V.4
  • 4
    • 0035854035 scopus 로고    scopus 로고
    • Human-mouse comparative sequence analysis of the NEMO gene reveals an alternative promoter within the neighboring G6PD gene
    • Galgóczy P., Rosenthal A., and Platzer M. Human-mouse comparative sequence analysis of the NEMO gene reveals an alternative promoter within the neighboring G6PD gene. Gene 271 (2001) 93-98
    • (2001) Gene , vol.271 , pp. 93-98
    • Galgóczy, P.1    Rosenthal, A.2    Platzer, M.3
  • 6
    • 51149093503 scopus 로고    scopus 로고
    • Nuclear factor kappa B signaling either stimulates or inhibits neurite growth depending on the phosphorylation status of p65/RelA
    • Gutierrez H., O'Keeffe G.W., Gavaldà N., Gallagher D., and Davies A.M. Nuclear factor kappa B signaling either stimulates or inhibits neurite growth depending on the phosphorylation status of p65/RelA. J. Neurosci. 28 (2008) 8246-8256
    • (2008) J. Neurosci. , vol.28 , pp. 8246-8256
    • Gutierrez, H.1    O'Keeffe, G.W.2    Gavaldà, N.3    Gallagher, D.4    Davies, A.M.5
  • 7
    • 71449106786 scopus 로고    scopus 로고
    • Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation
    • Philippe O., Rio M., Carioux A., Plaza J.M., Guigue P., Molinari F., Boddaert N., Bole-Feysot C., Nitschke P., Smahi A., et al. Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation. Am. J. Hum. Genet. 85 (2009) 903-908
    • (2009) Am. J. Hum. Genet. , vol.85 , pp. 903-908
    • Philippe, O.1    Rio, M.2    Carioux, A.3    Plaza, J.M.4    Guigue, P.5    Molinari, F.6    Boddaert, N.7    Bole-Feysot, C.8    Nitschke, P.9    Smahi, A.10
  • 9
    • 71149100260 scopus 로고    scopus 로고
    • Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation
    • Mir A., Kaufman L., Noor A., Motazacker M.M., Jamil T., Azam M., Kahrizi K., Rafiq M.A., Weksberg R., Nasr T., et al. Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation. Am. J. Hum. Genet. 85 (2009) 909-915
    • (2009) Am. J. Hum. Genet. , vol.85 , pp. 909-915
    • Mir, A.1    Kaufman, L.2    Noor, A.3    Motazacker, M.M.4    Jamil, T.5    Azam, M.6    Kahrizi, K.7    Rafiq, M.A.8    Weksberg, R.9    Nasr, T.10
  • 10
    • 4444311888 scopus 로고    scopus 로고
    • Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation
    • Fusco F., Bardaro T., Fimiani G., Mercadante V., Miano M.G., Falco G., Israël A., Courtois G., D'Urso M., and Ursini M.V. Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation. Hum. Mol. Genet. 13 (2004) 1763-1773
    • (2004) Hum. Mol. Genet. , vol.13 , pp. 1763-1773
    • Fusco, F.1    Bardaro, T.2    Fimiani, G.3    Mercadante, V.4    Miano, M.G.5    Falco, G.6    Israël, A.7    Courtois, G.8    D'Urso, M.9    Ursini, M.V.10
  • 12
    • 0034713270 scopus 로고    scopus 로고
    • Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti
    • The International Incontinentia Pigmenti (IP) Consortium
    • Smahi A., Courtois G., Vabres P., Yamaoka S., Heuertz S., Munnich A., Israël A., Heiss N.S., Klauck S.M., Kioschis P., et al., The International Incontinentia Pigmenti (IP) Consortium. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. Nature 405 (2000) 466-472
    • (2000) Nature , vol.405 , pp. 466-472
    • Smahi, A.1    Courtois, G.2    Vabres, P.3    Yamaoka, S.4    Heuertz, S.5    Munnich, A.6    Israël, A.7    Heiss, N.S.8    Klauck, S.M.9    Kioschis, P.10
  • 14
  • 17
    • 33646528676 scopus 로고    scopus 로고
    • NEMO, NFkappaB signaling and incontinentia pigmenti
    • Nelson D.L. NEMO, NFkappaB signaling and incontinentia pigmenti. Curr. Opin. Genet. Dev. 16 (2006) 282-288
    • (2006) Curr. Opin. Genet. Dev. , vol.16 , pp. 282-288
    • Nelson, D.L.1
  • 18
    • 65549164068 scopus 로고    scopus 로고
    • Roles of NF-kappaB in health and disease: Mechanisms and therapeutic potential
    • Wong E.T., and Tergaonkar V. Roles of NF-kappaB in health and disease: Mechanisms and therapeutic potential. Clin. Sci. (Lond.) 116 (2009) 451-465
    • (2009) Clin. Sci. (Lond.) , vol.116 , pp. 451-465
    • Wong, E.T.1    Tergaonkar, V.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.