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Published in Samar Razaq, Difficult Cases in Primary Care, 2021
Abnormal development of the third and fourth pharyngeal arches during embryonic development results in DiGeorge’s syndrome. The majority of cases are caused by chromosomal deletion at 22q11, although other chromosomal abnormalities have also been implicated. It results in immunodeficiency (due to inadequate thymic development), congenital heart defects, hypocalcaemia (due to underactive parathyroids) and abnormal facies. An extra copy of chromosome 18 results in Edwards’s syndrome, in which there may be a wide variety of congenital defects and mental retardation. Trisomy 21 is commonly known as Down’s syndrome.
Modulation of Tumor Matrix by Components of the Plasminogen-Plasmin System
Published in Róza Ádány, Tumor Matrix Biology, 2017
PAI-2 — Is synthesized in the placenta and monocytes.67–69 Its gene is located on chromosome 18 and has been cloned by three independent groups.70–72 It spans over 2 kb. The deduced amino acid sequence consists of 415 amino acids, with a molecular weight of 46 kDa. This inhibitor occurs in two forms: a non-glycosylated cytosolic (cPAI-2) form and a secreted glycosylated (sPAI-2) form, both found to be functionally and immunologically indistinguishable, and encoded by a single mRNA.73,74 The production of the sPAI-2 is believed to be the result of facultative translocation of the peptide in the rough endoplasmic reticulum.74 It inhibits both tcu-PA and tct-PA, and is about 10 times more inhibitory to u-PA than t-PA, but much less with sct-PA, and not at all with scu-PA. It is also found in the plasma of pregnant women, as well as in granulocytes, monocytes, and macrophages.75–77 Its plasma levels increase in pregnancy, peaking at term, and may contribute to the high risk for thrombosis during this period.
Benign Neoplasms of the Colon and Rectum
Published in Philip H. Gordon, Santhat Nivatvongs, Lee E. Smith, Scott Thorn Barrows, Carla Gunn, Gregory Blew, David Ehlert, Craig Kiefer, Kim Martens, Neoplasms of the Colon, Rectum, and Anus, 2007
The transition from intermediate to advanced (or late) adenoma is associated with a distinct genetic alteration on the long arm of chromosome 18. This alteration is correlated with the mutation of a gene that maps to 18q21, named deleted in colon cancer (DCC). Specific DCC mutation has been detected in a number of colorectal carcinomas and carcinomas that have lost the capacity to differentiate into mucus-producing cells that have uniformly lost DCC expression.
Genome-wide identification of lncRNAs and mRNAs differentially expressed in human vascular smooth muscle cells stimulated by high phosphorus
Published in Renal Failure, 2020
Shumin Bao, Yan Guo, Zongli Diao, Weikang Guo, Wenhu Liu
In the lncRNA-TF-mRNA network analysis, the NONHSAT058810.2, NONHSAT197162.1, NONHSAT033640.2, NONHSAT036152.2, NONHSAT179247.1, NONHSAT162315.1, NONHSAT061050.2 and NONHSAT006046.2 were the most highly connected lncRNAs. NONHSAT058810.2 is located on chromosome 18 and which is 450 bp in length; it is expressed in mammalian cardiac and brain tissues, as reported on the NONCODE website. NONHSAT197162.1, located on chromosome 3 and 774 bp long, NONHSAT179247.1 on chromosome 18 and 2694 bp long and NONHSAT162315.1 on chromosome 12 and 2574 bp have been reported to be expressed in lung cancer [33]. Meanwhile, NONHSAT033640.2 on chromosome 13 and 240 bp long, NONHSAT036152.2 on chromosome 14 and 2141 bp long and NONHSAT006046.2 on chromosome 1 and 535 bp are expressed specifically in mammals [34]. Finally, NONHSAT061050.2 is on chromosome 19 and 214 bp long.
Vacuolar protein sorting 4B regulates the proliferation and odontoblastic differentiation of human dental pulp stem cells through the Wnt-β-catenin signalling pathway
Published in Artificial Cells, Nanomedicine, and Biotechnology, 2019
Yuhua Pan, Ting Lu, Ling Peng, Zhao Chen, Meiyi Li, Kaiying Zhang, Fu Xiong, Buling Wu
VPS4B is mapped to chromosome 18 (18q21.33) and encodes a member of the AAA ATPase family [1]. The VPS4B protein plays essential roles in multiple cellular processes, including the formation of multivesicular bodies, virus budding, the abscission step of cytokinesis, and degradation of various membrane receptors [2,3]. VPS4B is an essential component of the endosomal sorting complexes required for the transport (ESCRT) machinery that mediates the final abscission step of cytokinesis in eukaryotes and many archaeal species [4]. Some studies have shown that VPS4B can regulate the progression of non–small cell lung cancer [5] and is involved in hepatocellular carcinoma [6] and in the apoptosis of chondrocytes and intestinal epithelial cells during osteoarthritis and Crohn’s disease, respectively [7,8]. Furthermore, VPS4B has been identified as a putative tumour suppressor in breast cancer because VPS4B promotes degradation of epidermal growth factor receptor, EGFR [9]. However, the role and mechanism of action of VPS4B in the development of other cell types, particularly stem cells, remain mostly unknown.
Novel insights into the pathogenesis of molecular subtypes of diffuse large B-cell lymphoma and their clinical implications
Published in Expert Review of Clinical Pharmacology, 2019
MYC is an essential proto-oncogenic transcription factor located on chromosome 8q24 that regulates various cellular functions such as proliferation and apoptosis [63]. Normally, MYC is tightly regulated on a low protein expression level while overexpression of intact MYC protein (by chromosomal translocation, gene amplification or insertional mutagenesis) can contribute to the formation of aggressive lymphomas [64]. BCL2, which is located on chromosome 18, is essential for the regulation of apoptosis [65]. The translocation t(14,18) can be detected in roughly 35% of GCB DLBCLs [66]. BCL6 is a key transcription factor in the germinal centre reaction and thus controls a multitude of genes involved in basic cellular processes such as apoptosis, proliferation and differentiation [67]. BCL6 deregulation alone seems to be insufficient for malignant transformation as further oncogenic hits are required [68].