Germ Line Mutations Associated Leukemia最新文献

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Introductory Chapter: Germline Mutations Associated with Leukaemia - Different Genetic Landscape and Therapeutic Strategies 导论章:与白血病相关的生殖系突变-不同的遗传景观和治疗策略
Germ Line Mutations Associated Leukemia Pub Date : 2019-09-04 DOI: 10.5772/intechopen.86154
Zhangyi Wu
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引用次数: 0
Epigenetic Landscape in Leukemia and Its Impact on Antileukemia Therapeutics 白血病的表观遗传景观及其对抗白血病治疗的影响
Germ Line Mutations Associated Leukemia Pub Date : 2019-05-07 DOI: 10.5772/INTECHOPEN.84184
B. He, Julia Hlavka-Zhang, R. Lock, D. Jing
{"title":"Epigenetic Landscape in Leukemia and Its Impact on Antileukemia Therapeutics","authors":"B. He, Julia Hlavka-Zhang, R. Lock, D. Jing","doi":"10.5772/INTECHOPEN.84184","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.84184","url":null,"abstract":"Epigenomic landscape mapping in leukemia cells supports germ line mutation studies to understand pathogenicity and treatment plans. The differential regulation of gene expression and heterogeneity between cell types during hematopoiesis and leukemia development is important in understanding oncogenesis. Oncogenesis in leukemia occurs at both genomic and epigenomic levels in order for hematological cells to evade lineage commitment. To ensure that therapies target the entire malignancy, it is important to consider the regulatory network that drives malignancy caused by mutations. Therapies tailored to respond to a patient-specific epigenetic landscape have the potential to minimize risk in administering chemo-therapies that may not work. In this chapter, a focused study on childhood acute lymphoblastic leukemia (ALL) will be used as an example of the current research in the field of epigenetics in leukemia and the impact it carries on our understanding of the disease and treatment plans.","PeriodicalId":292130,"journal":{"name":"Germ Line Mutations Associated Leukemia","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129212411","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
Familial Leukemia Associated with Thrombocytopenia 与血小板减少症相关的家族性白血病
Germ Line Mutations Associated Leukemia Pub Date : 2019-04-05 DOI: 10.5772/INTECHOPEN.85303
J. Trizuljak, M. Doubek
{"title":"Familial Leukemia Associated with Thrombocytopenia","authors":"J. Trizuljak, M. Doubek","doi":"10.5772/INTECHOPEN.85303","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.85303","url":null,"abstract":"Familial predisposition to leukemia has been known for decades. In some families, this condition is also associated with thrombocytopenia and history of bleeding. Germline mutations in the RUNX1 gene have been proven to cause familial platelet disorder with predisposition to myeloid malignancies (FDPMM). The disease typically presents with mild-to-moderate thrombocytopenia with normal-size platelets, functional platelet defects leading to prolonged bleeding, and an increased risk to develop myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), or T-cell acute lymphoblastic leukemia (T-ALL). In recent years, molecular defects in other genes, such as ANKRD26 and ETV6, have been associated with thrombocytopenia and susceptibility to hematological malignancy as well. In our chapter, we will present a review of up-to-date knowledge on this topic along with several case studies demonstrating the diagnostic process and management of the affected families.","PeriodicalId":292130,"journal":{"name":"Germ Line Mutations Associated Leukemia","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128240728","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
Perturbations in Generation and Flow of Energy in the Eukaryotic Cell Explain the Chromosomal Instability Syndrome 真核细胞中能量产生和流动的扰动解释了染色体不稳定综合征
Germ Line Mutations Associated Leukemia Pub Date : 2019-02-15 DOI: 10.5772/INTECHOPEN.84487
A. Herrera
{"title":"Perturbations in Generation and Flow of Energy in the Eukaryotic Cell Explain the Chromosomal Instability Syndrome","authors":"A. Herrera","doi":"10.5772/INTECHOPEN.84487","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.84487","url":null,"abstract":"Chromosomal instability is poorly defined and used inconsistently and impre-cisely. It is the increased propensity to chromosome aberrations due to chromosome replication, repair, or segregation. Therefore, acquired genetic changes are central to leukemia development. Fast-growing cells require substantive amount of energy; however, tumor cells take up more glucose, processing it through aerobic glycolysis producing large lactate amounts with lower use of oxidative phosphorylation to gener ate ATP. The Warburg effect is characterized by reduced use of tricarboxylic acid cycle, so pyruvate made in glycolysis is converted into lactate and expelled, but this metabolic pathway is energetically inef ficient. When genes are malfunctioning, both oncogenes and tumor suppres sor genes influence negatively the switch between aerobic glycolysis and extensive use of TCA cycle to generate ATP, as the normal gene replica tion and expression require adequate energy levels. Chromosomal instability is increasingly entangled and unnecessarily complex. So far, researchers focused solely on studying the mass and have forgotten the energy. The intrinsic property of melanin to transform light into chemical energy, through water dissociation, as chloro phyll in plants, opens a new landscape in chromosome biology, highlighting the role of the environment toxics in leukemia pathogenesis, inhalation being the dominant pathway of exposure. released by dissociating the molecule of water. Molecular hydrogen easily crosses any membrane or barrier inside the cell, so the growing spheres provide energy to both the inside of the cell nucleus and the rest of the organelles located outer of the nucleus by inside cell membrane. That molecular hydrogen does not combine with water is a crucial physic-chemical of hydrogen characteristic that explains the normal displacement of molecular hydrogen (H 2 ) along cytoplasm.","PeriodicalId":292130,"journal":{"name":"Germ Line Mutations Associated Leukemia","volume":"2014 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133941238","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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