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Volumn 76, Issue 4, 2009, Pages 417-419

Pseudogene-derived IKBKG gene mutations in incontinentia pigmenti

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; CYTOSINE; GLYCINE; I KAPPA B KINASE GAMMA;

EID: 70350147410     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01232.x     Document Type: Letter
Times cited : (7)

References (11)
  • 1
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    • 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. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature 2000, 405(6785):466-472.
    • (2000) Nature , vol.405 , Issue.6785 , pp. 466-472
    • Smahi, A.1    Courtois, G.2    Vabres, P.3
  • 2
    • 0035888596 scopus 로고    scopus 로고
    • Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes
    • Aradhya S, Bardaro T, Galgoczy P. Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. Hum Mol Genet 2001, 10(22):2557-2567.
    • (2001) Hum Mol Genet , vol.10 , Issue.22 , pp. 2557-2567
    • Aradhya, S.1    Bardaro, T.2    Galgoczy, P.3
  • 3
    • 0034771886 scopus 로고    scopus 로고
    • A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations
    • Aradhya S, Woffendin H, Jakins T. A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. Hum Mol Genet 2001, 10(19):2171-2179.
    • (2001) Hum Mol Genet , vol.10 , Issue.19 , pp. 2171-2179
    • Aradhya, S.1    Woffendin, H.2    Jakins, T.3
  • 4
    • 0035089759 scopus 로고    scopus 로고
    • Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma)
    • Aradhya S, Courtois G, Rajkovic A. Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma). Am J Hum Genet 2001, 68(3):765-771.
    • (2001) Am J Hum Genet , vol.68 , Issue.3 , pp. 765-771
    • Aradhya, S.1    Courtois, G.2    Rajkovic, A.3
  • 5
    • 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. 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 2004, 13(16):1763-1773.
    • (2004) Hum Mol Genet , vol.13 , Issue.16 , pp. 1763-1773
    • Fusco, F.1    Bardaro, T.2    Fimiani, G.3
  • 6
    • 42949154156 scopus 로고    scopus 로고
    • Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations
    • Fusco F, Pescatore A, Bal E. Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations. Human Mutation 2008, 29(5):595-604.
    • (2008) Human Mutation , vol.29 , Issue.5 , pp. 595-604
    • Fusco, F.1    Pescatore, A.2    Bal, E.3
  • 7
    • 0037226450 scopus 로고    scopus 로고
    • Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma dene deletion
    • Bardaro T, Falco G, Sparago A. Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma dene deletion. Hum Mutat 2003, 21(1):8-11.
    • (2003) Hum Mutat , vol.21 , Issue.1 , pp. 8-11
    • Bardaro, T.1    Falco, G.2    Sparago, A.3
  • 8
    • 67349185844 scopus 로고    scopus 로고
    • Thirteen X-chromosomal short tandem repeat loci multiplex data from Taiwanese
    • Hwa HL, Chang YY, Lee JC. Thirteen X-chromosomal short tandem repeat loci multiplex data from Taiwanese. Int J Legal Med 2009, 123(3):263-269.
    • (2009) Int J Legal Med , vol.123 , Issue.3 , pp. 263-269
    • Hwa, H.L.1    Chang, Y.Y.2    Lee, J.C.3
  • 9
    • 33748348177 scopus 로고    scopus 로고
    • Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T >C (L444P).
    • Brown JT, Lahey C, Laosinchai-Wolf W. Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T >C (L444P). BMC Med Genet 2006, 7:69.
    • (2006) BMC Med Genet , vol.7 , pp. 69
    • Brown, J.T.1    Lahey, C.2    Laosinchai-Wolf, W.3
  • 10
    • 35349010556 scopus 로고    scopus 로고
    • Microconversion between CYP21A2 and CYP21A1P promoter regions causes the nonclassical form of 21-hydroxylase deficiency
    • Araujo RS, Mendonca BB, Barbosa AS. Microconversion between CYP21A2 and CYP21A1P promoter regions causes the nonclassical form of 21-hydroxylase deficiency. J Clin Endocrinol Metab 2007, 92(10):4028-4034.
    • (2007) J Clin Endocrinol Metab , vol.92 , Issue.10 , pp. 4028-4034
    • Araujo, R.S.1    Mendonca, B.B.2    Barbosa, A.S.3
  • 11
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    • Clinical and molecular analysis of NF-kappaB essential modulator in Chinese incontinentia pigmenti patients
    • Zou CC, Zhao ZY. Clinical and molecular analysis of NF-kappaB essential modulator in Chinese incontinentia pigmenti patients. Int J Dermatol 2007, 46(10):1017-1022.
    • (2007) Int J Dermatol , vol.46 , Issue.10 , pp. 1017-1022
    • Zou, C.C.1    Zhao, Z.Y.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.