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

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EEF1B2 (eukaryotic translation elongation factor 1 beta 2) EEF1B2(真核翻译延伸因子1β2)
Q4 Medicine Pub Date : 2020-04-01 DOI: 10.4267/2042/70784
L. Cristiano
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引用次数: 1
SNX3 (Sorting Nexin 3)
Q4 Medicine Pub Date : 2020-04-01 DOI: 10.4267/2042/70783
Esra Çiçek, Ayca Circir Hatil, Merve Oyken, Harun Cingoz, A. E. Erson-Bensan
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引用次数: 0
Primary Cutaneous CD8 Aggressive Epidermotropic Cytotoxic T Cell Lymphoma 原发性皮肤CD8侵袭性表皮细胞毒性T细胞淋巴瘤
Q4 Medicine Pub Date : 2020-04-01 DOI: 10.4267/2042/70779
Ana Marèa Corazón-Monzón, L. Juárez-Salcedo, S. Dalia
Review on Primary Cutaneous CD8 Aggressive Epidermotropic Cytotoxic T Cell Lymphoma, with data on clinics, and the genes involved.
原发性皮肤CD8侵袭性表皮细胞毒性T细胞淋巴瘤的临床资料和相关基因综述。
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引用次数: 0
t(9;14)(p24;q12) STRN3/JAK2 t(9;14)(p24;q12)STRN3/JAK2
Q4 Medicine Pub Date : 2020-04-01 DOI: 10.4267/2042/70778
J. Huret
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引用次数: 0
t(1;14)(p35;q32) LAPTM5/IGH t(1;14)(p35;q32)LAPTM5/IGH
Q4 Medicine Pub Date : 2020-04-01 DOI: 10.4267/2042/70776
J. Huret
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引用次数: 0
HTR4 (5-hydroxytryptamine receptor 4) 5-羟色胺受体4
Q4 Medicine Pub Date : 2020-03-01 DOI: 10.4267/2042/70748
R. Gurbanov, Hazel Karadağ
Being a member of the serotonin receptor family, 5HT4 receptor ties up the neurotransmitter-serotonin (5-hydroxytryptamine/ 5-HT) in the central nervous system (CNS) of mammals. Commonly 5-HT4 receptors (5-HTR4) are G-protein-coupled receptors (GPCRs), in which the G proteins cause the induction of adenylate cyclase, subsequently leading to cyclic adenosine monophosphate (cAMP) and protein kinase A (PKA) activations. These receptors are commonly expressed in gastrointestinal, cardiovascular, nervous, and urinary systems, as well as the adrenal cortex (Tack et al., 2012). In this review article, the genetic, cellular, and biochemical knowledge of 5-HT4 receptors is deliberated. Besides the emphasis on receptor-ligand interaction with therapeutics, the implication of these receptors in several health disturbances/diseases is considered on the basis of available literature.
作为血清素受体家族的一员,5HT4受体与哺乳动物中枢神经系统(CNS)中的神经递质血清素(5-羟色胺/5-HT)联系在一起。通常5-HT4受体(5-HTR4)是G蛋白偶联受体(GPCR),其中G蛋白引起腺苷酸环化酶的诱导,随后导致环磷酸腺苷(cAMP)和蛋白激酶A(PKA)的激活。这些受体通常在胃肠道、心血管、神经和泌尿系统以及肾上腺皮质中表达(Tack等人,2012)。本文对5-HT4受体的遗传、细胞和生化知识进行了综述。除了强调受体-配体与治疗剂的相互作用外,还根据现有文献考虑了这些受体在几种健康障碍/疾病中的作用。
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引用次数: 0
t(14;19)(q11;q13) TRA/NECTIN2 t(14;19)(q11;q13)TRA/NECTIN2
Q4 Medicine Pub Date : 2020-03-01 DOI: 10.4267/2042/70751
J. Huret
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引用次数: 0
t(6;12)(q15;p13) t(6;12)(q15;p13)
Q4 Medicine Pub Date : 2020-03-01 DOI: 10.4267/2042/70768
Tatiana Gindina
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引用次数: 0
BIRC7 (baculoviral IAP repeat containing 7) BIRC7(含有7个IAP重复序列的杆状病毒)
Q4 Medicine Pub Date : 2020-03-01 DOI: 10.4267/2042/70749
Dhiego B Rigato, P. Branco, Catarina Silva, J. Machado-Neto, L. Costa-Lotufo, P. Jimenez
BIRC7, also known as livin, is a member of the Inhibitor of Apoptosis Protein (IAP) family and is linked to the prevention of cell death induced by apoptosis, by directly or indirectly preventing caspase activity. In general, as most IAPs, BIRC7 expression is not detectable in normal differentiated adult tissues, with the exception of placenta, spleen, lymph nodes and developing embryonic tissues. On the other hand, BIRC7 overexpression has been reported in a variety of tumor types, in which it is associated to malignancy and chemoresistance. Currently, there are some unanswered questions about BIRC7, including its interaction with caspases, a potential paradoxical role in the apoptotic process, and specific functions/affinities of the BIRC7α and BIRC7β splice variants. Moreover, several studies have demonstrated the value of BIRC7 as a therapeutic target in a number of cancer types. This review mainly focuses on the role of BIRC7 in cancer cell biology and its clinical significance, demonstrating aspects of its DNA/RNA and protein, as well as its relevance in cancer diagnosis and prognosis.
BIRC7,也被称为livin,是凋亡蛋白抑制剂(IAP)家族的成员,通过直接或间接地阻止caspase活性,与预防凋亡诱导的细胞死亡有关。一般来说,除了胎盘、脾脏、淋巴结和发育中的胚胎组织外,与大多数IAPs一样,在正常分化的成人组织中无法检测到BIRC7的表达。另一方面,BIRC7过表达已在多种肿瘤类型中被报道,其中它与恶性肿瘤和化疗耐药相关。目前,关于BIRC7还有一些未解之谜,包括它与caspases的相互作用,在凋亡过程中的潜在矛盾作用,以及BIRC7α和BIRC7β剪接变体的特定功能/亲和力。此外,一些研究已经证明BIRC7作为许多癌症类型的治疗靶点的价值。本文主要就BIRC7在肿瘤细胞生物学中的作用及其临床意义进行综述,从其DNA/RNA、蛋白等方面阐述BIRC7在肿瘤诊断和预后中的作用。
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引用次数: 4
del(5q) in acute lymphoblastic leukemia (ALL) del(5q)在急性淋巴细胞白血病(ALL)中的表达
Q4 Medicine Pub Date : 2020-03-01 DOI: 10.4267/2042/70750
A. Zámečníkova, S. A. Bahar
Myelodysplatic syndrome (MDS) with an isolated 5q deletion (5q-syndrome), that may arise de novo or may be therapy-related is recognized as a distinct entity by the WHO classification. While del(5q) thought to contribute to the pathogenesis of myeloid neoplasms, it has also been reported in lymphoblastic leukemia, suggesting a common underlying mechanism.
骨髓增生异常综合征(MDS)伴孤立的5q缺失(5q综合征),可能是新发的,也可能与治疗相关,被WHO分类认定为一个独特的实体。虽然del(5q)被认为与髓系肿瘤的发病机制有关,但在淋巴细胞白血病中也有报道,提示其共同的潜在机制。
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引用次数: 1
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Atlas of Genetics and Cytogenetics in Oncology and Haematology
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