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

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Myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2: Overview 2019 粒细胞/淋巴肿瘤伴嗜酸性粒细胞增多和PDGFRA、PDGFRB或FGFR1重排或PCM1-JAK2:概述2019
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2020-02-01 DOI: 10.4267/2042/70698
S. Xiao
{"title":"Myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2: Overview 2019","authors":"S. Xiao","doi":"10.4267/2042/70698","DOIUrl":"https://doi.org/10.4267/2042/70698","url":null,"abstract":"Review on the group of myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1JAK2 defined by the WHO 2016.","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43070694","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
X-linked thrombocytopenia (THC1/XLT) x连锁血小板减少症(THC1/XLT)
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2020-02-01 DOI: 10.4267/2042/70729
Jyoti Kumar
{"title":"X-linked thrombocytopenia (THC1/XLT)","authors":"Jyoti Kumar","doi":"10.4267/2042/70729","DOIUrl":"https://doi.org/10.4267/2042/70729","url":null,"abstract":"X-linked thrombocytopenia (XLT) is a rare bleeding disorder characterized by isolated thrombocytopenia with small-sized platelets. XLT is a milder clinical variant of Wiskott-Aldrich syndrome (WAS), which is characterized by the clinical triad of eczema, susceptibility to infection and thrombocytopenia, while patients with XLT only present with thrombocytopenia. XLT is caused by a mutation in the WAS gene.","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47939588","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
GATA1 (GATA binding protein 1 (globin transcription factor1)) GATA结合蛋白1(珠蛋白转录因子1)
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2020-02-01 DOI: 10.4267/2042/70724
Winston Y. Lee, O. Weinberg
{"title":"GATA1 (GATA binding protein 1 (globin transcription factor1))","authors":"Winston Y. Lee, O. Weinberg","doi":"10.4267/2042/70724","DOIUrl":"https://doi.org/10.4267/2042/70724","url":null,"abstract":"","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48899449","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
THBS1 (thrombospondin-1). THBS1（血小板反应蛋白-1）。
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2020-01-01 DOI: 10.4267/2042/70774
Jeffrey S Isenberg, David D Roberts
{"title":"THBS1 (thrombospondin-1).","authors":"Jeffrey S Isenberg,&nbsp;David D Roberts","doi":"10.4267/2042/70774","DOIUrl":"https://doi.org/10.4267/2042/70774","url":null,"abstract":"<p><p>Thrombospondins are encoded in vertebrates by a family of <i>5 THBS</i> genes. <i>THBS1</i> is infrequently mutated in most cancers, but its expression is positively regulated by several tumor suppressor genes and negatively regulated by activated oncogenes and promoter hypermethylation. Consequently, thrombospondin-1 expression is frequently lost during oncogenesis and is correlated with a poor prognosis for some cancers. Thrombospondin-1 is a secreted protein that acts in the tumor microenvironment to inhibit angiogenesis, regulate antitumor immunity, stimulate tumor cell migration, and regulate the activities of extracellular proteases and growth factors. Differential effects of thrombospondin-1 on the sensitivity of normal versus malignant cells to ischemic and genotoxic stress also regulate the responses to tumors to therapeutic radiation and chemotherapy.</p>","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":"24 8","pages":"291-299"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7687907/pdf/nihms-1608111.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38650455","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Bone and Soft Tissue: Ewing sarcoma 骨与软组织:尤文氏肉瘤
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2020-01-01 DOI: 10.4267/2042/70661
Kelly M. Bailey, S. Ranganathan
{"title":"Bone and Soft Tissue: Ewing sarcoma","authors":"Kelly M. Bailey, S. Ranganathan","doi":"10.4267/2042/70661","DOIUrl":"https://doi.org/10.4267/2042/70661","url":null,"abstract":"","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70516299","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
t(6;11)(q13;q12) EEF1G/OOEP t (6; 11) (q13; q12) EEF1G / OOEP
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2020-01-01 DOI: 10.4267/2042/70679
Luigi Cristiano
{"title":"t(6;11)(q13;q12) EEF1G/OOEP","authors":"Luigi Cristiano","doi":"10.4267/2042/70679","DOIUrl":"https://doi.org/10.4267/2042/70679","url":null,"abstract":"Review on the translocation t(6;11)(q13;q12) EEF1G/OOEP involving EEF1G (alias, eukaryotic translation elongation factor 1 gamma) gene and OOEP (alias, oocyte expressed protein) gene. The novel fusion gene was detected in acute lymphoblastic leukemia/lymphoblastic lymphoma patients but the presence of the correspondent protein is still unknown.","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":"12 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70516467","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
Langerhans cell histiocytosis 朗格汉斯组织细胞增多症
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2020-01-01 DOI: 10.4267/2042/70683
Dingbao Chen
{"title":"Langerhans cell histiocytosis","authors":"Dingbao Chen","doi":"10.4267/2042/70683","DOIUrl":"https://doi.org/10.4267/2042/70683","url":null,"abstract":"Tumours derived from Langerhans cells (LCs) are divided into two main subgroups, according to the degree of cytological atypia and clinical aggressiveness: LC histiocytosis (LCH) and LC sarcoma. Both subgroups maintain the phenotypic profile and ultrastructural features of LCs. LCH is a clonal neoplastic proliferation of Langerhans-type cells that express CD1a, langerin, and S100 protein, showing Birbeck granules by ultrastructural examination. Here the clinicopathological of LCH will be discussed.","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41600316","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
SOHLH2 (spermatogenesis and oogenesis specific basic helix-loop-helix 2) SOHLH2(精子发生和卵子发生特异性基本螺旋-环-螺旋2)
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2020-01-01 DOI: 10.4267/2042/70655
Flavia R Mangone, A. C. Pavanelli, M. Nagai
{"title":"SOHLH2 (spermatogenesis and oogenesis specific basic helix-loop-helix 2)","authors":"Flavia R Mangone, A. C. Pavanelli, M. Nagai","doi":"10.4267/2042/70655","DOIUrl":"https://doi.org/10.4267/2042/70655","url":null,"abstract":"","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70515766","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
PPP6R3 (protein phosphatase 6 regulatory subunit 3) 蛋白磷酸酶6调控亚基3 (PPP6R3)
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2020-01-01 DOI: 10.4267/2042/70657
L. Cristiano
{"title":"PPP6R3 (protein phosphatase 6 regulatory subunit 3)","authors":"L. Cristiano","doi":"10.4267/2042/70657","DOIUrl":"https://doi.org/10.4267/2042/70657","url":null,"abstract":"","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70516130","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: 2
OOEP (Oocyte expressed protein) 卵母细胞表达蛋白
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2020-01-01 DOI: 10.4267/2042/70677
L. Cristiano
{"title":"OOEP (Oocyte expressed protein)","authors":"L. Cristiano","doi":"10.4267/2042/70677","DOIUrl":"https://doi.org/10.4267/2042/70677","url":null,"abstract":"Oocyte expressed protein, alias OOEP, is a component of the subcortical maternal complex (SCMC) that play its roles in oocytes and in early stages of embryogenesis. In this review it is done an insight on its DNA, its RNA, its protein encoded and on the diseases where OOEP is involved.","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70516369","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
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