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Showing 10 out of a total of 25 results for community: Atlas of Genetics and Cytogenetics in Oncology and Haematology. (0.007 seconds)
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(Jean-Loup Huret (Editor-in-Chief), 2015)The HSPD1 gene encodes a protein known as HSP60 or Hsp60, also commonly referred to as Cpn60. This protein is a molecular chaperone typically localized inside mitochondria where it forms a chaperoning machine with HSP10 (encoded by the HSPE1 gene), also called Cpn10, to assist protein folding inside the organelle. Hsp60 also occurs in the cytosol, plasma-cell membrane, intercellular space, and blood. Its functions in all these extramitochondrial locations are poorly understood. While the canonical functions of Hsp60 are considered to be cytoprotective, anti-stress and maintenance of protein homeostasis, other roles are currently being investigated. For example, Hsp60 participates in the pathogenesis of diseases in various ways in certain types of cancer, and chronic inflammatory and autoimmune pathological conditions. These are considered chaperonopathies by mistake, in which a normal chaperone (normal at least as far as it can be determined by current methods to study the structure of a molecule available only at extremely low concentrations and quantities) turns against the organism instead of protecting it, favouring the growth and dissemination of cancer cells, or the initiation-progression of inflammation, for instance. In addition, Hsp60 mutations cause at least two types of severe genetic chaperonopathies. All this knowledge is expanding nowadays clearly pointing to Hsp60 as a potential target for chaperonotherapy by replacement when it is defective or by inhibition when it is pathogenic....
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(Jean-Loup Huret (Editor-in-Chief), 2015)The BIRC6 gene (BRUCE/APOLLON) encodes the cytoplasmic protein BIRC6 in mammals, consisting of a single N-terminal baculoviral IAP repeat (BIR) domain and a C-terminal ubiquitin-conjugating (UBC) domain. Of the huge protein size at 528 kDa, BIRC6 demonstrated pleiotropic functions including inhibition of apoptosis, cytoprotection, regulation of cytokinesis, mitosis, autophagy and neutrophil differentiation. With the BIR domain, BIRC6 is defined as a member of the Inhibitor of Apoptosis (IAP) family. Through its BIR domain, BIRC6 binds to active caspases, including caspases-3, 6, 7 and 9 and accounts for its ability to inhibit the caspase cascade and ultimately apoptosis. The UBC domain has chimeric E2/E3 ubiquitin ligase activity where it facilitates proteosomal degradation of various proteins, including pro-apoptotic proteins p53, caspases, Smac and mitotic regulator cyclin A. More importantly, the UBC domain plays an indispensable role in embryonic development in mammals and spermatogenesis in Drosophila. Increasing evidence supports the cancer promoting role of BIRC6. Elevated BIRC6 expression has been found in a variety of cancers and was shown to contribute to treatment resistance....
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(Jean-Loup Huret (Editor-in-Chief), 2015)Review on NFE2L2 (nuclear factor, erythroid 2-like 2)...
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(ARMGHM - Atlas Génétique des Cancers, 2016)Review on NDRG1 (N-myc downstream regulated 1)...
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(Jean-Loup Huret (Editor-in-Chief), 2016)CIC is a tissue-specific transcriptional repressor that is highly conserved between metazoan organisms and is required for the normal development of multiple adult structures. CIC functions to transduce receptor tyrosine kinase (RTK) signalling into gene expression changes through a mechanism termed default repression, wherein CIC is bound to target gene promoters or enhancers and inhibits transcription in the absence of signal. This CIC-DNA interaction can be inhibited through activation of the RTK core signalling molecule mitogen-activated protein kinase (MAPK), which then allows for the transcription of CIC targets through this RTK-MAPK signalling axis. Components of RTK signalling are commonly dysregulated in cancers, possibly implying that CIC alterations observed in specific cancer types (e.g. oligodendroglioma and Ewing-like sarcomas) are a form of RTK signalling dysregulation that drives oncogenesis. CIC is also specifically expressed in cells of the developing central nervous system and its dysfunction is associated with the neurodegenerative disorder spinocerebellar ataxia type 1, implicating CIC in neuronal cell development and/or homeostasis. Other possible cellular and physiological roles for CIC include cell cycle control, ATP-citrate lyase phosphorylation, reactive oxygen species homeostasis, and bile acid homeostasis....
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(Jean-Loup Huret (Editor-in-Chief), 2015)EYA2 encodes a co-activator for the SIX family of homeobox transcription factors. The SIX/EYA transcriptional complex plays important roles in organogenesis, promoting the proliferation and survival of progenitor cells. Abnormal re-expression of EYA2 in adult tissue promotes tumorigenesis and metastasis in multiple tumor types. In addition to its role as a co-activator, the EYA Domain (ED) of EYA2 contains a unique HAD family Tyr phosphatase activity, which plays a role in ERβ specific anti-tumor activity in breast cancer. The EYA2 Tyr phosphatase can also dephosphorylate H2AX, potentially playing a role in DNA damage repair. The N-terminal region of EYA2 also contains a Ser/Thr phosphatase activity, which may regulate the innate immune response....
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(Jean-Loup Huret (Editor-in-Chief), 2015)Review on AKAP1, with data on DNA, on the protein encoded, and where the gene is implicated....
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(Jean-Loup Huret (Editor-in-Chief), 2015)ADAM23 belongs to the ADAM (A Disintegrin And Metalloproteinase domain) family of proteins. Members of this family present a common structural organization including metalloprotease, disintegrin, cystein-rich, epidermal growth factor-like, transmembrane and cytoplasmatic domains and are structurally related to snake venom disintegrins. ADAM23 has close similarity to ADAM11 and ADAM22; is highly expressed in the CNS, and is crucial for normal brain development. Mice homozygous for an insertional mutation that inactivates the gene are smaller than normal littermates, show delayed lung development, are lethal by postnatal day 14, and display severe tremor and ataxia. ADAM23 does not present metalloprotease activity and probably plays its biological role through the disintegrin domain. ADAM23 is involved in cell-cell adhesion and communication and cell-matrix modulation. The ADAM23 gene is frequently silenced by DNA promoter methylation in different types of solid cancers and epigenetic inactivation is associated with cancer progression, increased tumor cell mobility and reduced tumor cell proliferation....
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(Jean-Loup Huret (Editor-in-Chief), 2015)Review on RHOA, with data on DNA/RNA, on the protein encoded and where the gene is implicated....
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(Jean-Loup Huret (Editor-in-Chief), 2015)Review onSGK1 (serum/glucocorticoid regulated kinase 1)...