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J-GLOBAL ID：201502298594016724   Reference number：15A0717857

Overexpression of p53 but not Rb in the cytoplasm of neurons and small vessels in an autopsy of a patient with Cockayne syndrome

コケイン症候群患者の剖検において神経細胞の細胞質と小血管にp53が過剰発現していたがRbはない

Author (5)： MIYAHARA Hiroaki (Dep. of Pediatrics, Oita Univ. Fac. of Medicine, Oita, JPN) ,  ITONAGA Tomoyo (Dep. of Pediatrics, Oita Univ. Fac. of Medicine, Oita, JPN) ,  MAEDA Tomoki (Dep. of Pediatrics, Oita Univ. Fac. of Medicine, Oita, JPN) ,  IZUMI Tatsuro (Dep. of Pediatrics, Oita Univ. Fac. of Medicine, Oita, JPN) ,  IHARA Kenji (Dep. of Pediatrics, Oita Univ. Fac. of Medicine, Oita, JPN)
Material： Neuropathology (Web)  (日本神経病理学会総会学術研究会プログラム・抄録集(Web))
Volume： 35  Issue： 3  Page： 266-272  Publication year： Jun. 2015 
JST Material Number： U0508A  ISSN： 1440-1789  Document type： Article
Article type： 短報  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： *hereditary disease ,...
Semi thesaurus term： *Cockayne Syndrome ,...

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JST classification (3)： Nervous system diseases  (GN03000O) ,  Congenital diseases,deformities in general.  (GD03010V) ,  Gene expression  (EC02040Q)

Reference (31)：

• Lehmann AR. Three complementation groups in Cockayne syndrome. Mutat Res 1982; 106: 347-356.
• Cockayne EA. Dwarfism with retinal atrophy and deafness. Arch Dis Child 1936; 11: 1-8.
• Cockayne EA. Dwarfism with retinal atrophy and deafness. Arch Dis Child 1946; 21: 52-54.
• Henning KA, Li L, Iyer N et al. The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. Cell 1995; 82: 555-564.
• Troelstra C, Landsvater RM, Wiegant J et al. Localization of the nucleotide excision repair gene ERCC6 to human chromosome 10q11-q21. Genomics 1992; 12: 745-749.

Terms in the title (9)： コケイン症候群 ,  患者 ,  剖検 ,  神経細胞 ,  細胞質 ,  小血管 ,  p53 ,  過剰発現 ,  Rb