China 
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Current Status of Alzheimer's Disease in India: Prevalence, Stigma, and Myths
Published in Meenu Gupta, Gopal Chaudhary, Victor Hugo C. de Albuquerque, Smart Healthcare Monitoring Using IoT with 5G, 2021
Surekha Manhas, Zaved Ahmed Khan, Meenu Gupta
Tau is a protein (phosphoprotein) that plays a potent role in the stabilization of neuronal structure and maintains the microtubule stability [36,37]. The gene that controls the production of protein tau is located on chromosome 17, which when gets mutated results in the development of neurofibrillary tangles inside the neurons, which in turn interfere the flow of information among the cells. Alternative splicing of a microtubule-associated protein tau (MAPT) gene results in the formation of tau proteins [38,39]. The changes in the post-transcriptional modification processes thus result in the excessive phosphorylation of tau into an abnormal form called neurofibrillary tangles [40]. In AD, phosphorylation usually occurs in 19 amino acids at serine position 119, 202, 409, 396 and threonine at 231 [41,42].
Will Systems Biology Transform Clinical Decision Support?
Published in Paul Cerrato, John Halamka, Reinventing Clinical Decision Support, 2020
Studying network medicine’s essential components is also providing useful insights into the nature of asthma, as we discussed earlier. Oligonucleotide microarrays and sequencing are homing in on single-nucleotide polymorphisms (SNPs) that may be involved in the pathophysiology of asthma, for instance. Some of the strongest evidence comes from genome-wide association studies (GWAS) that focus on the 17q21 locus, referring to chromosome 17—the lower q section, position 21. Four genes in this section of the chromosome—ORMDL3, GSDMB, ZPBP2, and IKZF3—have been linked to inflammatory response, a major problem for patients with asthma. GWAS also suggest that specific gene variants in the FLG gene contribute to atopic dermatitis in Europeans and Asians. The mutations are not usually found in Africans, as demonstrated by whole exome sequencing. (The exome is that fraction of the genome that contains protein-encoding DNA.)18
Enzyme Kinetics and Drugs as Enzyme Inhibitors
Published in Peter Grunwald, Pharmaceutical Biocatalysis, 2019
Chronic lymphocytic leukemia (CLL) is a cancer of the blood forming cells in the bone marrow resulting in an overproduction of B-lymphocytes that proliferate uncontrolled and crowd out normal cells. If chromosome 17 or the tumor suppressor gene 53 (TP53) bear mutations (e.g., 17p deletions; for a TP53 gene mutation analysis see Minervini et al., 2016) the prognosis is particularly poor. B-cell receptor (BCR) signaling is essential for normal B-cell development but also plays a major role in both B-cell-mediated autoimmune inflammation and B-cell malignancies (Puri et al., 2013). Inhibitors of this pathway targeting the spleen tyrosine kinase (Syk), Bruton’s tyrosine kinase (Btk), and phosphatidylinositol 3-kinase isoform p110delta (PI3Kδ) are promising treatment options. Examples are Ibrutinib as monotherapy and Idelalisib in combination with Rituximab (next scheme). These inhibitors promote apoptosis, inhibit proliferation, and also prevent CLL cells from responding to survival stimuli provided by the microenvironment. Idelalisib is a second-line drug for patients with relapsed CLL, and is also approved for the treatment of follicular B-cell non-Hodgkin lymphoma and relapsed small lymphocytic lymphoma. Ibrutinib acts by interacting with Bruton’s tyrosine kinase, whereas Idelalisib inhibits PI3Kδ (Pongas and Cheson, 2016; Greenwell et al., 2017; Barrientos, 2016). First direct in vivo measurements demonstrating inhibition of CLL cell proliferation and promotion of high rates of CLL cell death by ibrutinib have been reported by Burger et al. (2017).
Developing gene drive technologies to eradicate invasive rodents from islands
Published in Journal of Responsible Innovation, 2018
Caroline M. Leitschuh, Dona Kanavy, Gregory A. Backus, Rene X. Valdez, Megan Serr, Elizabeth A. Pitts, David Threadgill, John Godwin
Current research on genetic biocontrol of rodents is confined to mice due to the relative ease in manipulating the mouse genome in comparison to rats. Mice have a naturally occurring gene drive on Chromosome 17 called the t-haplotype (Willison and Lyon 2000), which is being developed for the genetic biocontrol of mice. Male mice heterozygous for the t-haplotype pass it on to greater than half of their offspring, with some variants of the t-haplotype having transmission rates of over 90% (Bauer et al. 2005). Sperm containing the t-haplotype are more successful than sperm without the t-haplotype, leading to an increased proportion of eggs being fertilized by sperm with the t-haplotype (Bauer et al. 2005). Mice homozygous for the t-haplotype usually die before birth from accumulated mutations in the t-haplotype. The tw2 variant of the t-haplotype is being used in developing genetic biocontrol for mice since males homozygous for the t-haplotype are sterile instead of dying before birth. Female mice with the tw2 variant have normal fertility (Lyon 2003).
The expression of Phase II drug-metabolizing enzymes in human B-lymphoblastoid TK6 cells
Published in Journal of Environmental Science and Health, Part C, 2022
Xilin Li, Yuxi Li, Kylie G. Ning, Si Chen, Lei Guo, Jessica A. Bonzo, Nan Mei
In vitro genotoxicity testing has been successfully used to predict genotoxicity and plays an important role in chemical risk assessment. The human B-lymphoblastoid TK6 cell line was established in 1978 from the parental WI-L2 cells, which are diploid lymphoblast cells derived from a 5-year-old male with hereditary spherocytosis. The relevance of TK6 cells to genetic toxicology stems from their heterozygosity at the thymidine kinase (TK) locus on human chromosome 17 and the presence of the hypoxanthine phosphoribosyl transferase (HPRT) gene on the X chromosome. Due to these specific features, the TK6 cell line was originally used in the TK mutation assay to detect point mutations, deletions, and recombination, and is also well suited for the HPRT gene mutation assay. Both TK and HPRT gene mutation assays have been recommended by international authorities such as the Organization for Economic Co-operation and Development (OECD) and described in the OECD testing guidelines (TG) 476 and 490.1,2 Currently, the human TK6 cell line is widely used as a standard cell line for regulatory safety assessments to conduct TK and HPRT gene mutation assays, chromosome aberration tests (e.g., OECD TG473), micronucleus assays (e.g., OECD TG487), and comet assays.3 In fact, a recent international survey indicated that the human TK6 cells and mouse lymphoma L5178Y cells are the most used cell lines for in vitro genotoxicity testing.4 In addition, TK6 cells not only demonstrate negligible genetic variability to the human reference genome, but also harbor a homozygous wild type p53 gene, making them more physiologically relevant than other cell models used in genotoxicity testing.5 TK6 cells have the potential for high-throughput genotoxicity screening since they readily expand in standard RPMI 1640 cell culture media in suspension.6