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J-GLOBAL ID：201502207488234564   Reference number：15A0805250

Constructive rescue of TFIIH instability by an alternative isoform of XPD derived from a mutated XPD allele in mild but not severe XP-D/CS

軽症XP-D/CS(重症ではない)の変異XPDアレルから得られた他のXPDアイソフォームを利用してTFIIH不安定性を建設的にレスキューする

Author (11)： HORIBATA Katsuyoshi (Osaka Univ., Osaka, JPN) ,  KONO Sayaka (Osaka Univ., Osaka, JPN) ,  ISHIGAMI Chie (Osaka Univ., Osaka, JPN) ,  ZHANG Xue (Osaka Univ., Osaka, JPN) ,  AIZAWA Madoka (Chiba Children’s Hospital, Chiba, JPN) ,  KAKO Yuko (Chiba Children’s Hospital, Chiba, JPN) ,  ISHII Takuma (Chiba Children’s Hospital, Chiba, JPN) ,  ISHII Takuma (Kawaguchi Kogyo General Hospital, Saitama, JPN) ,  KOSAKI Rika (National Center for Child Health and Dev., Tokyo, JPN) ,  SAIJO Masafumi (Osaka Univ., Osaka, JPN) ,  TANAKA Kiyoji (Osaka Univ., Osaka, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 60  Issue： 5  Page： 259-265  Publication year： May. 2015 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： human ,...
Semi thesaurus term： *Cockayne Syndrome ,...

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JST classification (1)： Congenital diseases,deformities in general.  (GD03010V)

Reference (25)：

• Pena, S. D. & Shokeir, M. H. Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome. Clin. Genet. 5, 285-293 (1974).
• Graham, J. M. Jr, Anyane-Yeboa, K., Raams, A., Appeldoorn, E., Kleijer, W. J. & Garritsen, V. H. et al. Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. Am. J. Hum. Genet. 69, 291-300 (2001).
• Frederick, G. D., Amirkhan, R. H., Schultz, R. A. & Friedberg, E. C. Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. Hum. Mol. Genet. 3, 1783-1788 (1994).
• Takayama, K., Salazar, E. P., Lehmann, A., Stefanini, M., Thompson, L. H. & Weber, C. A. Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D. Cancer Res. 55, 5656-5663 (1995).
• Broughton, B. C., Thompson, A. F., Harcourt, S. A., Vermeulen, W., Hoeijmakers, J. H. & Botta, E. et al. Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome. Am. J. Hum. Genet. 56, 167-174 (1995).

Terms in the title (12)： 軽症 ,  XP ,  Cs ,  重症 ,  変異 ,  XPD ,  アレル ,  アイソフォーム ,  TFIIH ,  不安定性 ,  建設 ,  レスキュー