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OOEP (Oocyte expressed protein)
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
KMT2A-CBL Fusion Gene Resulting from del(11)(q23.3q23.3) Identified by Chromosome Microarray Analysis - second report in AML
Retinoblastoma (hereditary predisposition)
Review on Retinoblastoma, with data on clinics, and the gene involved
Primary Cutaneous B-Cell Lymphomas
Primary cutaneous B-cell lymphomas (PCBCL) are a heterogeneous group of mature B-cells neoplasms that present in the skin without evidence of nodal or systemic involvement. The clinical and pathologic features of PCBCL differ significantly from the equivalent nodal lymphomas. Three main subtypes of PCBCL are recognized by the 2016 revised WHO classification. Studies have shown that PCBCLs are characterized by distinct immunophenotypic features, chromosomal aberrations and gene rearrangements which provide further support for their classification as separate entities from their nodal types
TNIK (TRAF2 and NCK interacting kinase)
The serine/threonine kinase Traf2- and Nck interacting kinase (TNIK), is a member of the germinal center kinase (GCK) family that has been reported to have an important role in the regulation of Jun N-terminal kinase pathway (JNK) activation and actin cytoskeleton. It has also been demonstrated that TNIK is an important activator of Wnt pathway, where it interacts with β-catenin/TCF4 complex, phosphorylates Tcf4 inducing the transcription of Wnt target genes. In several studies, the expression of TNIK has been established to be involved in different human cancers
A2M (alpha-2-macroglobulin)
Alpha-2-Macroglobulin (A2M) was first recognized as a broad-spectrum protease inhibitor and is a pan-proteinase inhibitor that can mechanistically inhibit all proteinase families. It plays an important role in the clearance of proteinases from circulation, regulation of fibrinolysis, coagulation and complement activation. A2M is also known to act as a transport/carrier protein. In general, A2M is produced by the liver as an acute-phase protein during stress conditions and then secreted into the blood and extracellular environments where it functions. It is also locally produced by macrophages, fibroblasts, and epithelial cells. A2M gene mutations play a role in the pathogenesis of diseases such as Alzheimer's disease, parkinson's disease, and prostate cance