xeroderma pigmentosum

出典: meddic

色素性乾皮症

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/06/27 15:19:51」(JST)

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英文文献

  • The effect of XPD/ERCC2 Lys751Gln polymorphism on acute leukemia risk: A systematic review and meta-analysis.
  • Liu D1, Wu D1, Li H2, Dong M3.Author information 1Department of pharmacy, Harbin Medical University Cancer Hospital, Harbin, Heilongjiang, China.2Department of Medical Oncology, Harbin Medical University Cancer Hospital, Harbin, Heilongjiang, China.3Department of pharmacy, Harbin Medical University Cancer Hospital, Harbin, Heilongjiang, China. Electronic address: mdhappy2006@hotmail.com.AbstractAIMS: Epidemiological studies have assessed the association between xeroderma pigmentosum group D (XPD) Lys751Gln and acute leukemia risk with conflicting results. We performed this meta-analysis to derive a more precise estimation of the relationship. Pooled odds ratio (OR) with 95% confidence interval (95% CI) was used to assess the strength of the association.
  • Gene.Gene.2014 Apr 1;538(2):209-216. doi: 10.1016/j.gene.2014.01.049. Epub 2014 Jan 28.
  • AIMS: Epidemiological studies have assessed the association between xeroderma pigmentosum group D (XPD) Lys751Gln and acute leukemia risk with conflicting results. We performed this meta-analysis to derive a more precise estimation of the relationship. Pooled odds ratio (OR) with 95% confidence inte
  • PMID 24486506
  • A nonsense mutation in the Xeroderma pigmentosum complementation group F (XPF) gene is associated with gastric carcinogenesis.
  • Wei ZH1, Guo WH1, Wu J1, Suo WH1, Fu GH2.Author information 1Pathology Center, Shanghai First People's Hospital / Faculty of Basic Medicine, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, PR China.2Pathology Center, Shanghai First People's Hospital / Faculty of Basic Medicine, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, PR China. Electronic address: fuguhu@263.net.AbstractXPF/ERCC1 endonuclease is required for DNA lesion repair. To assess effects of a C2169A nonsense mutation in XPF at position 2169 in gastric cancer tissues and cell lines, genomic DNA was extracted from blood samples of 488 cancer patients and 64 gastric tumors. The mutation was mapped using a TaqMan MGB probe. In addition, gastric cancer cell lines were transfected with mutated XPF to explore XPF/ERCC1 interaction, XPF degradation, and DNA repair by a comet assay. The C2169A mutation was not detected in 488 samples of blood genomic DNA, yet was found in 32 of 64 gastric cancer tissue samples (50.0%), resulting in a 194C-terminal amino acid loss in XPF protein and lower expression. Laser micro-dissection confirmed that this point mutation was not present in surrounding normal tissues from the same patients. The truncated form of XPF (tXPF) impaired interaction with ERCC1, was rapidly degraded via ubiquitination, and resulted in reduced DNA repair. In gastric cancers, the mutation was monoallelic, indicating that XPF is a haplo-insufficient DNA repair gene. As the C2169A mutation is closely associated with gastric carcinogenesis in the Chinese population, our findings shine light on it as a therapeutic target for early diagnosis and treatment of gastric cancer.
  • Gene.Gene.2014 Mar 10;537(2):238-44. doi: 10.1016/j.gene.2013.12.061. Epub 2014 Jan 8.
  • XPF/ERCC1 endonuclease is required for DNA lesion repair. To assess effects of a C2169A nonsense mutation in XPF at position 2169 in gastric cancer tissues and cell lines, genomic DNA was extracted from blood samples of 488 cancer patients and 64 gastric tumors. The mutation was mapped using a TaqMa
  • PMID 24412486
  • The Structure of Social Exchange in Self-help Support Groups: Development of a Measure.
  • Brown LD1, Tang X, Hollman RL.Author information 1University of Texas School of Public Health, 1101 N. Campbell, Room 409, El Paso, TX, 79902, USA, louis.d.brown@uth.tmc.edu.AbstractSelf-help support groups are indigenous community resources designed to help people manage a variety of personal challenges, from alcohol abuse to xeroderma pigmentosum. The social exchanges that occur during group meetings are central to understanding how people benefit from participation. This paper examines the different types of social exchange behaviors that occur during meetings, using two studies to develop empirically distinct scales that reliably measure theoretically important types of exchange. Resource theory informed the initial measurement development efforts. Exploratory factor analyses from the first study led to revisions in the factor structure of the social exchange scales. The revised measure captured the exchange of emotional support, experiential information, humor, unwanted behaviors, and exchanges outside meetings. Confirmatory factor analyses from a follow-up study with a different sample of self-help support groups provided good model fit, suggesting the revised structure accurately represented the data. Further, the scales demonstrated good convergent and discriminant validity with related constructs. Future research can use the scales to identify aspects of social exchange that are most important in improving health outcomes among self-help support group participants. Groups can use the scales in practice to celebrate strengths and address weaknesses in their social exchange dynamics.
  • American journal of community psychology.Am J Community Psychol.2014 Mar;53(1-2):83-95. doi: 10.1007/s10464-013-9621-3.
  • Self-help support groups are indigenous community resources designed to help people manage a variety of personal challenges, from alcohol abuse to xeroderma pigmentosum. The social exchanges that occur during group meetings are central to understanding how people benefit from participation. This pap
  • PMID 24398622

和文文献

  • 小児の湿疹・皮膚炎群および色素性乾皮症への低刺激性サンスクリーン剤の臨床的安全性評価
  • 鈴木 律子,安本 美奈子,福永 淳,錦織 千佳子,佐々木 りか子
  • 日本小児皮膚科学会雑誌 = Journal of pediatric dermatology 30(1), 31-36, 2011-02-28
  • NAID 10027866876
  • Simultaneous disruption of two DNA polymerases, Polη and Polζ, in Avian DT40 cells unmasks the role of Polη in cellular response to various DNA lesions.
  • Hirota Kouji,Sonoda Eiichiro,Kawamoto Takuo,Motegi Akira,Masutani Chikahide,Hanaoka Fumio,Szüts Dávid,Iwai Shigenori,Sale Julian E,Lehmann Alan,Takeda Shunichi
  • PLoS genetics 6(10), 2010-10
  • … We provide striking in vivo evidence of the cooperation between DNA polymerase η, which is mutated in the variant form of the cancer predisposition disorder xeroderma pigmentosum (XP-V), and DNA polymerase ζ by generating POLη(-/-)/POLζ(-/-) cells from the chicken DT40 cell line. …
  • NAID 120002661519

関連リンク

viele Informationen, Hilfsmittel rund um die seltene Krankheit Xeroderma pigmentosum (XP) oder auch Monscheinkrankheit. ... Xeroderma pigmentosum Zur Anmeldung Zur Anmeldung zum 8. XP-Treffen von Sonntag 3. November bis ...
Xeroderma pigmentosum. 134 likes · 0 talking about this. Xeroderma pigmentosum, or XP, is an autosomal recessive genetic disorder of DNA repair in which the ability to repair damage caused by ultraviolet (UV) light is deficient. In ...

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  • first aid step1 2006 p.79,294

familial cancer syndromes(HIM.493)

FAMILIAL CANCER SYNDROME
AR: DNA repair abnormalities
xeroderma pigmentosum
Fanconi's anemia
ataxia telangiectasia




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