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ＤＮＡ損傷応答関連遺伝子の異常と悪性腫瘍・自己免疫疾患との関連について
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ＤＮＡ損傷応答関連遺伝子の異常と悪性腫瘍・自己免疫疾患との関連について
- 資料種別
- 記事
- 著者
- 兪 史幹ほか
- 出版者
- The Japan Society for Clinical Immunology
- 出版年
- 2006
- 資料形態
- デジタル
- 掲載誌名
- 日臨免誌 29 3
- 掲載ページ
- p.136-147
資料詳細
要約等：
- 生体を構成する細胞の遺伝情報の恒常性維持は，多彩かつ精緻に制御された諸生命活動に必須の細胞機能であり，その破綻は遺伝情報における変異の蓄積ならびにアポトーシス誘導機構の異常をもたらし，癌をはじめとする諸疾患の誘因となると考えられている．遺伝情報の維持において，DNA損傷応答機構，とりわけ細胞周期チェ...
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デジタル
- 資料種別
- 記事
- 出版年月日等
- 2006
- 出版年（W3CDTF）
- 2006
- タイトル（掲載誌）
- 日臨免誌
- 巻号年月日等（掲載誌）
- 29 3
- 掲載巻
- 29
- 掲載号
- 3
- 掲載ページ
- 136-147
- 掲載年月日（W3CDTF）
- 2006
- ISSN（掲載誌）
- 09114300
- 出版事項（掲載誌）
- The Japan Society for Clinical Immunology
- 本文の言語コード
- ja
- 対象利用者
- 一般
- 標準番号（その他）
- PMID : 16819262
- DOI
- 10.2177/jsci.29.136
- オンライン閲覧公開範囲
- インターネット公開
- 関連情報（URI）
- 参照
- CpG methylation within the 5′ regulatory region of the BRCA1 gene is tumor specific and includes a putative CREB binding siteDNA methylation changes in multiple myelomaRegional analysis of<i>p53</i>mutations in rheumatoid arthritis synoviumHypermethylation of the p15INK4B Gene in Myelodysplastic SyndromesReduced p53 in peripheral blood mononuclear cells from patients with rheumatoid arthritis is associated with loss of radiation‐induced apoptosisTumor spectrum analysis in p53-mutant miceOncogenic properties of PPM1D located within a breast cancer amplification epicenter at 17q23Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage SyndromeChk1 and Chk2 kinases in checkpoint control and cancerHemizygous p16INK4A deletion in pediatric acute lymphoblastic leukemia predicts independent risk of relapseThe Tumor Suppressor Gene Brca1 Is Required for Embryonic Cellular Proliferation in the MouseTargeted disruption of the cell-cycle checkpoint gene ATR leads to early embryonic lethality in micePPM1D dephosphorylates Chk1 and p53 and abrogates cell cycle checkpointsMethylation of p15INK4b and E-cadherin genes is independently correlated with poor prognosis in acute myeloid leukemiaVariation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 geneChk2 Is a Tumor Suppressor That Regulates Apoptosis in both an Ataxia Telangiectasia Mutated (ATM)-Dependent and an ATM-Independent MannerAnalysis of the CHK2 Gene in Lymphoid MalignanciesLocus-specific mutation databases: pitfalls and good practice based on the p53 experienceMice Deficient for the Wild-Type p53-Induced Phosphatase Gene (<i>Wip1</i>) Exhibit Defects in Reproductive Organs, Immune Function, and Cell Cycle ControlWip1 Phosphatase-Deficient Mice Exhibit Defective T Cell Maturation Due To Sustained p53 ActivationGermline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemiaLow-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutationsFunctional impact of concomitant versus alternative defects in the Chk2-p53 tumour suppressor pathway5′ CpG island hypermethylation is associated with transcriptional silencing of the p21CIP1/WAF1/SDI1 gene and confers poor prognosis in acute lymphoblastic leukemiaClaspin, a regulator of Chk1 in DNA replication stress pathwayATM Mutations in Sporadic Lymphoid TumoursCHK2-decreased protein expression and infrequent genetic alterations mainly occur in aggressive types of non-Hodgkin lymphomasSurfing the p53 networkChk2-deficient mice exhibit radioresistance and defective p53-mediated transcriptionPhosphorylation of Threonine 68 Promotes Oligomerization and Autophosphorylation of the Chk2 Protein Kinase via the Forkhead-associated Domainp53 gene mutations and protein overexpression are associated with aggressive variants of mantle cell lymphomasThe hMre11/hRad50 Protein Complex and Nijmegen Breakage Syndrome: Linkage of Double-Strand Break Repair to the Cellular DNA Damage ResponsePromoter Hypermethylation and BRCA1 Inactivation in Sporadic Breast and Ovarian Tumorsp53 Mutations in Human CancersAberrant methylation of <i>p16</i> <sup>INK4a</sup> is an early event in lung cancer and a potential biomarker for early diagnosisThe ATM gene is a target for epigenetic silencing in locally advanced breast cancerThe ATM–Chk2–Cdc25A checkpoint pathway guards against radioresistant DNA synthesisHeterozygous Germ Line <i>hCHK2</i> Mutations in Li-Fraumeni SyndromeE2F-1 Functions in Mice to Promote Apoptosis and Suppress ProliferationEnhanced DNA damage‐induced p53 peptide phosphorylation and cell‐cycle arrest in Sjögren’s syndrome cellsAberrant cell cycle checkpoint function and early embryonic death in <i>Chk1</i><sup>−/−</sup> miceTargeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects, and thymic lymphoma.p16INK4a Gene Inactivation by Deletions, Mutations, and Hypermethylation Is Associated With Transformed and Aggressive Variants of Non-Hodgkin's LymphomasA melanoma-associated germline mutation in exon 1β inactivates p14ARFHypermethylation of GpG islands in the promoter region of p15INK4b in acute promyelocytic leukemia represses p15INK4b expression and correlates with poor prognosisPleiotropic defects in ataxia-telangiectasia protein-deficient miceRapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations<i>ATR</i> disruption leads to chromosomal fragmentation and early embryonic lethalityINK4a/ARFLocus Alterations in Human Non-Hodgkin's Lymphomas Mainly Occur in Tumors with Wild-Type p53 GeneATM gene and lymphoid malignanciesA CHEK2 Genetic Variant Contributing to a Substantial Fraction of Familial Breast CancerCHEK2 Is a Multiorgan Cancer Susceptibility GeneChk1 is an essential kinase that is regulated by Atr and required for the G<sub>2</sub>/M DNA damage checkpointRole of PML in Cell Growth and the Retinoic Acid PathwayMutation analysis of the DNA-damage checkpoint gene CHK2 in myelodysplastic syndromes and acute myeloid leukemiasDefective ATM‐p53–mediated apoptotic pathway in multiple sclerosisAtm-Deficient Mice: A Paradigm of Ataxia TelangiectasiaA Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene <i>BRCA1</i>Mutations of Chk2 in primary hematopoietic neoplasmsSensing DNA Damage Through ATRIP Recognition of RPA-ssDNA ComplexesMutations of the <i>CHK2</i> gene are found in some osteosarcomas, but are rare in breast, lung, and ovarian tumorsFusion proteins of the retinoic acid receptor-α recruit histone deacetylase in promyelocytic leukaemiaMice deficient for p53 are developmentally normal but susceptible to spontaneous tumoursRegulation of Chk1 Kinase by Autoinhibition and ATR-mediated PhosphorylationIdentification and characterization of polymorphic variations of the ataxia telangiectasia mutated (ATM) gene in childhood Hodgkin diseaseVariants in the ATM-BRCA2-CHEK2 axis predispose to chronic lymphocytic leukemiaPositional cloning of the gene for Nijmegen breakage syndromeHypermethylation of <i>hMLH1</i>, <i>HPP1</i>, <i>p14<sup>ARF</sup></i>, <i>p16<sup>INK4A</sup></i> and <i>APC</i> in primary adenocarcinomas of the small bowelCharacterization of Tumor-associated Chk2 MutationsThe Chk2 protein kinaseThe DNA Double-Strand Break Repair Gene hMRE11 Is Mutated in Individuals with an Ataxia-Telangiectasia-like DisorderThe INK4a/ARF locus and melanomaAmplification of PPM1D in human tumors abrogates p53 tumor-suppressor activityPml is essential for multiple apoptotic pathwaysCHK1 frameshift mutations in genetically unstable colorectal and endometrial cancersp15INK4BCpG Island Methylation in Primary Acute Leukemia Is Heterogeneous and Suggests Density as a Critical Factor for Transcriptional Silencingp53 in hematologic malignanciesWip1, a novel human protein phosphatase that is induced in response to ionizing radiation in a p53-dependent mannerAlternative splicing and mutation status of CHEK2 in stage III breast cancerThe INK4a/ARF network in tumour suppressionA splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndromeRegulation of the antioncogenic Chk2 kinase by the oncogenic Wip1 phosphataseATM and related protein kinases: safeguarding genome integrityAnalysis of CHK2 in vulval neoplasiaAberrations of the Chk2 tumour suppressor in advanced urinary bladder cancerStructural and Functional Versatility of the FHA Domain in DNA-Damage Signaling by the Tumor Suppressor Kinase Chk2Regulation of Chk2 gene expression in lymphoid malignancies: involvement of epigenetic mechanisms in Hodgkin's lymphoma cell linesDNA damage activates ATM through intermolecular autophosphorylation and dimer dissociationATM Mutations and Phenotypes in Ataxia-Telangiectasia Families in the British Isles: Expression of Mutant ATM and the Risk of Leukemia, Lymphoma, and Breast CancerA Single Ataxia Telangiectasia Gene with a Product Similar to PI-3 Kinase
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