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Atlas of Genetics and Cytogenetics in Oncology and Haematology最新文献

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t(6;12)(q22;p13) ETV6/FRK
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2019-12-01 DOI: 10.4267/2042/70649
T. Gindina
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引用次数: 0
FANCB (FA complementation group B) FANCB（FA互补组B）
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2019-12-01 DOI: 10.4267/2042/70644
Sylvie Van Twest, A. Deans
{"title":"FANCB (FA complementation group B)","authors":"Sylvie Van Twest, A. Deans","doi":"10.4267/2042/70644","DOIUrl":"https://doi.org/10.4267/2042/70644","url":null,"abstract":"FANCB protein is a component of the Fanconi Anemia (FA) core complex needed for DNA repair. Within the core complex, FANCB forms a protein subcomplex with two other proteins, FAAP100, and an E3 RING ligase FANCL (BL100) to monoubiquitinate FANCD2 and FANCI (ID2), a process that is defective in 95% of all FA patients. FA is a rare, genetic cancer pre-disposition syndrome characterized by chromosomal instability and hypersensitivity to DNA crosslinking agents, such as those used in chemotherapy like mitomycin C (MMC) (Kennedy D'Andrea, 2006). FANCB is the only known X-linked FA gene, and mutations account for 1% of FA cases (Alter Rosenberg, 2013).","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44982680","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
del(6p) (loss of JARID2 and DTNBP1) in myeloid malignances del(6p) (JARID2和DTNBP1的缺失)在髓系恶性肿瘤中
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2019-12-01 DOI: 10.4267/2042/70614
L. Mitev
{"title":"del(6p) (loss of JARID2 and DTNBP1) in myeloid malignances","authors":"L. Mitev","doi":"10.4267/2042/70614","DOIUrl":"https://doi.org/10.4267/2042/70614","url":null,"abstract":"Review on 6p deletion in myeloid malignancies. The neighbor genes JARID2 and DTNBP1: possible relation and clinical relevance.","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48246157","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
CRLF2 (Cytokine receptor like factor 2) 细胞因子受体样因子2
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2019-12-01 DOI: 10.4267/2042/70641
D. Moreno-Lorenzana, R. Juárez-Velázquez, D. Martínez-Anaya, Patricia Péez-Vera
{"title":"CRLF2 (Cytokine receptor like factor 2)","authors":"D. Moreno-Lorenzana, R. Juárez-Velázquez, D. Martínez-Anaya, Patricia Péez-Vera","doi":"10.4267/2042/70641","DOIUrl":"https://doi.org/10.4267/2042/70641","url":null,"abstract":"CRLF2 is a member of type I cytokine receptor family. CRLF2 forms a functional complex with IL7 receptor α chain and thymic stromal lymphopoietin, this complex induces the activation of signal transducers and activators of transcription proteins. The overexpression of CRLF2 induced by genetic rearrangements has been described in acute lymphoblastic leukemia.","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46359305","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
t(10;10)(p12;q21) CTNNA3/ARHGAP21
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2019-12-01 DOI: 10.4267/2042/70610
J. Huret
{"title":"t(10;10)(p12;q21) CTNNA3/ARHGAP21","authors":"J. Huret","doi":"10.4267/2042/70610","DOIUrl":"https://doi.org/10.4267/2042/70610","url":null,"abstract":"","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42916690","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Artistic creativity and mental handicap 艺术创造力与心理障碍
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2019-12-01 DOI: 10.4267/2042/70617
J. Huret
{"title":"Artistic creativity and mental handicap","authors":"J. Huret","doi":"10.4267/2042/70617","DOIUrl":"https://doi.org/10.4267/2042/70617","url":null,"abstract":"","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48142279","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
i(5)(p10) in hematological malignancies i（5）（p10）在血液系统恶性肿瘤中的表达
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2019-11-01 DOI: 10.4267/2042/70576
A. Zámečníkova
{"title":"i(5)(p10) in hematological malignancies","authors":"A. Zámečníkova","doi":"10.4267/2042/70576","DOIUrl":"https://doi.org/10.4267/2042/70576","url":null,"abstract":"Isochromosome of the short arm of chromosome 5 is an infrequent chromosome anomaly that has been reported in myeloid, and less frequently in in lymphoid malignancies, including leukemia and lymphomas.","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44563492","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
t(1;1)(q24;q25) RCSD1/ABL2::inv(1)(q24q25) RCSD1/ABL2 t(1;1)(q24;q25) RCSD1/ABL2: inv(1) RCSD1/ABL2
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2019-11-01 DOI: 10.4267/2042/70529
B. Gaillard
{"title":"t(1;1)(q24;q25) RCSD1/ABL2::inv(1)(q24q25) RCSD1/ABL2","authors":"B. Gaillard","doi":"10.4267/2042/70529","DOIUrl":"https://doi.org/10.4267/2042/70529","url":null,"abstract":"Review on t(1;1)(q24;q25)/inv(1)(q24q25), with data on clinics, and the genes involved","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45084542","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Kidney: Succinate dehydrogenase-deficient renal cell carcinoma 肾脏:琥珀酸脱氢酶缺陷肾细胞癌
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2019-11-01 DOI: 10.4267/2042/70535
P. Cin
{"title":"Kidney: Succinate dehydrogenase-deficient renal cell carcinoma","authors":"P. Cin","doi":"10.4267/2042/70535","DOIUrl":"https://doi.org/10.4267/2042/70535","url":null,"abstract":"Short communication on succinate dehydrogenasedeficient renal cell carcinoma.","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47334836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
der(3)t(3;3)(p25-26;q12-21) der（3）t（3；3）（p25-26；q12-21）
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2019-11-01 DOI: 10.4267/2042/70577
A. Zamecnikova
{"title":"der(3)t(3;3)(p25-26;q12-21)","authors":"A. Zamecnikova","doi":"10.4267/2042/70577","DOIUrl":"https://doi.org/10.4267/2042/70577","url":null,"abstract":"","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49335495","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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