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Showing 10 out of a total of 34 results for community: Atlas of Genetics and Cytogenetics in Oncology and Haematology. (0.016 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), 2016)Review on UTS2, 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), 2016)NKX2-3 gene is a member of the homeobox, NKX family. The gene encodes a homeodomain-containing transcription factor. GO (gene ontology) annotations related to this gene include sequence-specific DNA binding and gene-specific transcription factor activity. NKX2-3 is essential for normal development and functions of the small intestine and spleen of embryonic and adult mice. Disruption of Nkx2-3 in mice results in postnatal lethality and abnormal development of the small intestine and the spleen. Villus formation in the small intestine appears considerably delayed in Nkx2-3(null) fetuses due to reduced proliferation of the epithelium, while massively increased growth of crypt cells follows in surviving adults. A complex intestinal malabsorption phenotype and striking abnormalities of gut-associated lymphoid tissue and spleen suggest deranged leukocyte homing. RT-PCR and immunohistochemistry revealed that NKX2-3 controls regional expression of leukocyte homing coreceptor mucosal addressin cell adhesion molecule-1 (MAdCAM-1) in specialized endothelial cells of the viscera. This indicates a potential role for NXK2-3 in establishing the developmental and positional cues in endothelia that regulate leukocyte homing through local control of cellular adhesion. Studies of disease association indicated that NKX2-3 is associated with IBD (both Crohn's disease and ulcerative colitis), intestinal fibrosis, colon rectal cancer, and dental caries....
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(Jean-Loup Huret (Editor-in-Chief), 2015)Human Major Histocompatibility Complex (MHC) Class I Chain-Related gene A (MICA) is located 46 Kb centromeric to the HLA-B locus on the short arm of human chromosome 6 and encodes for a 62-kda cell surface glycoprotein. It is expressed on endothelial cells, dendritic cells, fibroblasts, epithelial cells, and many tumours and serves as target for both cellular and humoral immune responses in transformed cells. MICA protein at normal states has a low level of expression in epithelial tissues but is upregulated in response to various stimuli of cellular stress. MICA also functions as a ligand recognized by the activating receptor NKG2D that is expressed on the surface of NK, NKT, CD8+ and TCRγδ+ T cells. Allelic variants of MICA due to a single amino acid substitution at position 129 in the α2 domain have been reported to result in large differences in NKG2D binding. These variable affinities have been suggested to affect thresholds of NK cell triggering and T cell modulation in autoimmune diseases and malignancies. MICA molecules exist also in soluble forms (sMICA) and altered serum levels of sMICA have been reported in multiple states of health and disease....
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(Jean-Loup Huret (Editor-in-Chief), 2016)Secretory Leukocyte Peptidase Inhibitor (SLPI) functionality in health and disease: Secretory Leukocyte Peptidase Inhibitor (SLPI) is a serine protease inhibitor of cathepsin G, trypsin and chymotrypsin, but primarily against neutrophil elastase. Its major function is to inhibit inflammation by blocking the proteolytic activity of these proteinases released by leukocytes and also through down-modulation of several cytokines. The anti-inflammatory activity is also mediated by inhibition of the activation of the transcription nuclear factor NF-kB. Some studies localized the molecule within the cytosol and in secondary granules of neutrophils. Because of this, it is believed that neutrophil-derived SLPI may regulate the protease/antiprotease balance at sites of tissue inflammation. In relation with the adaptive immune system, it was suggested that SLPI modulates the cellular and humoral immune response, by decreasing the T cell proliferation and reducing the class switching. Also, it is known that this polycationic non-glycosylated peptide, displays anti-microbial properties against bacteria, viruses (in particular HIV) and fungus. In summary, the SLPI is a pleitropic molecule, implicated in physiological and pathological events, such as wound healing, pregnancy, chronic obstructive pulmonary disease, cancer, ischemia reperfusion injury and stroke, among others. Their detection in serum and biological fluids may be useful as a biomarker to diagnosis and prognosis for certain diseases....
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(Jean-Loup Huret (Editor-in-Chief), 2016)LATS1 tumor suppressor is a serine/threonine kinase of the AGC kinase family and a core component of the Hippo pathway in mammals. LATS1 regulates various biological processes such as cell cycle progression, genetic stability, cell motility and adhesion, apoptosis, stem cell renewal and differentiation (Visser and Yang, 2010; Mo et al., 2014). LATS1 performs these functions by phosphorylating various substrates such as transcriptional co-activators YAP and TAZ (Zhao et al., 2007; Hao et al., 2008). LATS1 is also required for tissue homeostasis in both flies and mice (Visser et al., 2010). In addition to its roles in a broad spectrum of normal biological processes, loss of LATS1 has been shown to be important for the development of cancer and resistance to chemotherapeutic drugs (Visser et al., 2010). Therefore, understanding the molecular mechanisms underlying loss-of-LATS1-induced tumorigenesis and drug resistance will shed light on the design of new cancer treatment strategies in the future....
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(ARMGHM - Atlas Génétique des Cancers, 2016)This is a concise review of the KDR/VEGFR2 gene, including expression, function, and implications of VEGFR2 expression in cancer....
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(Jean-Loup Huret (Editor-in-Chief), 2016)Review on CXCL12, 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)Review on the ECM1 gene...
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(Jean-Loup Huret (Editor-in-Chief), 2015)ROS1 is proto-oncogene encoding a type I integral membrane protein with receptor tyrosine kinase (RTK) activity. ROS1 is a member of the insulin receptor family and is involved in downstream signalling processes involved in cell growth and differentiation....