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https://www.readbyqxmd.com/read/29353467/high-resolution-melting-analysis-for-rapid-detection-of-pik3ca-gene-mutations-in-bladder-cancer-a-mutated-target-for-cancer-therapy
#1
Zahra Ousati Ashtiani, Abdol Rasoul Mehrsai, Mohammad Reza Pourmand, Gholam Reza Pourmand
PURPOSE: PIK3CA gene mutations have clinical importance and their presence is associated with therapy response. They are also considered as a molecule for targeted therapy. As regards to their importance, genetic variation within a population as well as among different populations, this study was conducted to detect common mutations of exons 9 and 20 and other probable mutations in PIK3CA gene as well as their frequencies in Iranian bladder cancer patients. MATERIALS AND METHODS: Paired tumor and adjacent normal tissues samples were obtained from 50 bladder cancer patients...
January 21, 2018: Urology Journal
https://www.readbyqxmd.com/read/29353462/lactobacillus-kosoi-sp-nov-a-fructophilic-species-isolated-from-k%C3%A3-so-a-japanese-sugar-vegetable-fermented-beverage
#2
Tai-Ying Chiou, Wataru Suda, Kenshiro Oshima, Masahira Hattori, Chiaki Matsuzaki, Kenji Yamamoto, Tomoya Takahashi
A novel Gram-positive, fructophilic, catalase negative, and rod-shaped strain, designated strain 10HT was isolated from kôso, a Japanese sugar-vegetable fermented beverage obtained from a food processing factory in Saku City, Nagano Prefecture, Japan. Phylogenetic analysis based on 16S rRNA gene sequences revealed strain 10HT to belong to the genus Lactobacillus, with closely related type strains being Lactobacillus kunkeei YH-15T (95.5% sequence similarity), Lactobacillus ozensis Mizu2-1T (95.4% sequence similarity), and Lactobacillus apinorum Fhon13NT (95...
January 20, 2018: Antonie Van Leeuwenhoek
https://www.readbyqxmd.com/read/29353409/16s-rrna-gene-sequencing-reveals-altered-composition-of-gut-microbiota-in-individuals-with-kidney-stones
#3
Ruiqiang Tang, Yonghua Jiang, Aihua Tan, Juan Ye, Xiaoying Xian, Yuanliang Xie, Qiuyan Wang, Ziting Yao, Zengnan Mo
Nephrolithiasis is a common urological disease with high prevalence and recurrence rates. Characterizing gut microbiome profiles of nephrolithiasis patients may provide valuable insights and potential biomarkers for the disease. Therefore, we explored the relation between gut microbiome and nephrolithiasis using 16S ribosomal RNA (rRNA) gene sequencing. 13 patients with multiple kidney stones and 13 matched healthy controls were recruited. A decreasing trend in number of observed species in nephrolithiasis patients was detected, although statistical significance was not reached (p = 0...
January 20, 2018: Urolithiasis
https://www.readbyqxmd.com/read/29353404/dna-methylation-rather-than-single-nucleotide-polymorphisms-regulates-the-production-of-an-aberrant-splice-variant-of-il6r-in-mastitic-cows
#4
Yan Zhang, Xiuge Wang, Qiang Jiang, Haisheng Hao, Zhihua Ju, Chunhong Yang, Yan Sun, Changfa Wang, Jifeng Zhong, Jinming Huang, Huabin Zhu
Interleukin-6 receptor-alpha (IL6R) interacts with IL6 and forms a ligand-receptor complex, which can stimulate various cellular responses, such as cell proliferation, cell differentiation, and activation of inflammatory processes. Both genetic mutation and epigenetic modification regulate gene transcription. We identified a novel splice variant of bovine IL6R, designated as IL6R-TV, which is characterized by the skipping of exon 2 of the NCBI-referenced IL6R gene (IL6R-reference). The expression levels of IL6R-TV and IL6R-reference transcripts were lower in normal mammary gland tissues...
January 20, 2018: Cell Stress & Chaperones
https://www.readbyqxmd.com/read/29353403/genetic-polymorphism-in-hsp90aa1-gene-is-associated-with-the-thermotolerance-in-chinese-holstein-cows
#5
T M Badri, K L Chen, M A Alsiddig, Lian Li, Yafei Cai, G L Wang
The heat shock protein 90 (Hsp90) is a copious and ubiquitous molecular chaperone which plays an essential role in many cellular biological processes. The objective of this study was to identify single nucleotide polymorphisms (SNPs) in the Hsp90AA1 gene and to determine their association with heat stress traits in Chinese Holstein cattle breed. Direct sequencing was used to identify new SNPs. Luciferase reporter assay methods were used to assess g.- 87G > C and g.4172A > G loci in the promoter activity and 3'-UTR, respectively...
January 20, 2018: Cell Stress & Chaperones
https://www.readbyqxmd.com/read/29353387/inter-individual-variation-in-health-and-disease-associated-with-pulmonary-infectious-agents
#6
Kirsten C Verhein, Heather L Vellers, Steven R Kleeberger
Respiratory infectious diseases resulting from bacterial or viral pathogens such as Mycobacterium tuberculosis, Streptococcus pneumoniae, respiratory syncytial virus (RSV), or influenza, are major global public health concerns. Lower respiratory tract infections are leading causes of morbidity and mortality, only behind ischemic heart disease and stroke (GBD 2015 LRI Collaborators in Lancet Infect Dis 17(11):1133-1161, 2017). Developing countries are particularly impacted by these diseases. However, while many are infected with viruses such as RSV (> 90% of all individuals are infected by age 2), only sub-populations develop severe disease...
January 20, 2018: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/29353380/crystal-structure-of-the-nadp-and-tartrate-bound-complex-of-l-serine-3-dehydrogenase-from-the-hyperthermophilic-archaeon-pyrobaculum-calidifontis
#7
Kazunari Yoneda, Haruhiko Sakuraba, Tomohiro Araki, Toshihisa Ohshima
A gene encoding L-serine dehydrogenase (L-SerDH) that exhibits extremely low sequence identity to the Agrobacterium tumefaciens L-SerDH was identified in the hyperthermophilic archaeon Pyrobaculum calidifontis. The predicted amino acid sequence showed 36% identity with that of Pseudomonas aeruginosa L-SerDH, suggesting that P. calidifontis L-SerDH is a novel type of L-SerDH, like Ps. aeruginosa L-SerDH. The overexpressed enzyme appears to be the most thermostable L-SerDH described to date, and no loss of activity was observed by incubation for 30 min at temperatures up to 100 °C...
January 20, 2018: Extremophiles: Life Under Extreme Conditions
https://www.readbyqxmd.com/read/29353225/spectrum-of-mutations-in-index-patients-with-familial-hypercholesterolemia-in-singapore-single-center-study
#8
Sharon Li Ting Pek, Sanjaya Dissanayake, Jessie Choi Wan Fong, Michelle Xueqin Lin, Eric Zit Liang Chan, Justin I-Shing Tang, Chee Wan Lee, Hean Yee Ong, Chee Fang Sum, Su Chi Lim, Subramaniam Tavintharan
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is an autosomal dominant genetic disease characterized by the presence of high plasma low density lipoproteins cholesterol (LDL-c). Patients with FH, with mutation detected, are at increased risk of premature cardiovascular disease compared to those without mutations. The aim of the study was to assess the type of mutations in patients, clinically diagnosed with FH in Singapore. METHODS: Patients (probands) with untreated/highest on-treatment LDL-c>4...
December 27, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29353102/aging-african-green-monkeys-manifest-transcriptional-pathological-and-cognitive-hallmarks-of-human-alzheimer-s-disease
#9
Paige E Cramer, Renee C Gentzel, Keith Q Tanis, Joshua Vardigan, Yi Wang, Brett Connolly, Philip Manfre, Kenneth Lodge, John J Renger, Celina Zerbinatti, Jason M Uslaner
While many preclinical models of Alzheimer's disease (AD) have been reported, none fully recapitulate the disease. In an effort to identify an appropriate preclinical disease model, we characterized age-related changes in 2 higher order species, the African green monkey (AGM) and the rhesus macaque. Gene expression profiles in the dorsolateral prefrontal cortex and the visual cortex showed age-related changes in AGMs that are strikingly reminiscent of AD, whereas aged rhesus were most similar to healthy elderly humans...
December 20, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29353055/pituitary-adenylate-cyclase-activating-polypeptide-pacap-signaling-in-the-prefrontal-cortex-modulates-cued-fear-learning-but-not-spatial-working-memory-in-female-rats
#10
Adam J Kirry, Matthew R Herbst, Sarah E Poirier, Michelle M Maskeri, Amy C Rothwell, Robert C Twining, Marieke R Gilmartin
A genetic polymorphism within the gene encoding the pituitary adenylate-cyclase activating polypeptide (PACAP) receptor type I (PAC1R) has recently been associated with hyper-reactivity to threat-related cues in women, but not men, with post-traumatic stress disorder (PTSD). PACAP is a highly conserved peptide, whose role in mediating adaptive physiological stress responses is well established. Far less is understood about the contribution of PACAP signaling in emotional learning and memory, particularly the encoding of fear to discrete cues...
January 15, 2018: Neuropharmacology
https://www.readbyqxmd.com/read/29352984/spcrus3-and-spcrus4-share-high-similarity-in-mud-crab-scylla-paramamosain-exhibiting-different-antibacterial-activities
#11
Yue Wang, Xiao-Wen Zhang, Hui Wang, Wen-Hong Fang, Hongyu Ma, Fengxia Zhang, Yuan Wang, Xin-Cang Li
Type I crustins are crucial effectors of crustacean immune system. Various type I crustins with high sequence diversity possess different antimicrobial activities. To date, the mechanism on how the sequence diversity of type I crustins affects their antimicrobial activities is largely unclear, and how different crustins function together against bacterial invasion still remains unknown. In this study, we identified two novel type I crustins, namely, SpCrus3 and SpCrus4, from an economically important crab, Scylla paramamosain...
January 15, 2018: Developmental and Comparative Immunology
https://www.readbyqxmd.com/read/29352962/improved-systemic-metabolism-and-adipocyte-biology-in-mir-150-knockout-mice
#12
Minsung Kang, Xiaobing Liu, Yuchang Fu, W Timothy Garvey
INTRODUCTION: Short non-coding micro-RNAs (miRNAs) are post-transcriptional factors that directly regulate protein expression by degrading or inhibiting target mRNAs; however, the role of miRNAs in obesity and cardiometabolic disease remains unclarified. Based on our earlier study demonstrating that miR-150 influences lipid metabolism, we have studied effects of miR-150 on systemic metabolism and adipocyte biology. MATERIALS AND METHODS: Metabolic phenotypes including body weight, food intake, body composition, glucose tolerance and insulin sensitivity were assessed in WT and global miR-150 KO male mice fed a high-fat diet...
January 15, 2018: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29352811/single-nucleotide-polymorphisms-in-genes-encoding-penicillin-binding-proteins-in-%C3%AE-lactamase-negative-ampicillin-resistant-haemophilus-influenzae-in-japan
#13
Kazuhisa Misawa, Norihito Tarumoto, Shinsuke Tamura, Morichika Osa, Takaaki Hamamoto, Atsushi Yuki, Yuji Kouzaki, Kazuo Imai, Runtuwene Lucky Ronald, Toshiyuki Yamaguchi, Takashi Murakami, Shigefumi Maesaki, Yutaka Suzuki, Akihiko Kawana, Takuya Maeda
OBJECTIVE: β-Lactamase-negative ampicillin-resistant Haemophilus influenzae is a common opportunistic pathogen of hospital- and community-acquired infections, harboring multiple single nucleotide polymorphisms in the ftsI gene, which codes for penicillin-binding protein-3. The objectives of this study were to perform comprehensive genetic analyses of whole regions of the penicillin-binding proteins in H. influenzae and to identify additional single nucleotide polymorphisms related to antibiotic resistance, especially to ampicillin and other cephalosporins...
January 20, 2018: BMC Research Notes
https://www.readbyqxmd.com/read/29352809/a-novel-plec-nonsense-homozygous-mutation-c-7159g%C3%A2-%C3%A2-t-p-glu2387-causes-epidermolysis-bullosa-simplex-with-muscular-dystrophy-and-diffuse-alopecia-a-case-report
#14
Zoe Argyropoulou, Lu Liu, Linda Ozoemena, Claudia C Branco, Raquel Senra, Ângela Reis-Rego, Luisa Mota-Vieira
BACKGROUND: Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM #226670) is an autosomal recessive disease, characterized mainly by skin blistering at birth or shortly thereafter, progressive muscle weakness, and rarely by alopecia. EBS-MD is caused by mutations in the PLEC gene (OMIM *601282), which encodes plectin, a structural protein expressed in several tissues, including epithelia and muscle. We describe a patient affected with EBS-MD and diffuse alopecia in which we identified a novel pathogenic mutation by PCR amplification of all coding exons and exon-intron boundaries of PLEC gene, followed by bidirectional Sanger sequencing...
January 20, 2018: BMC Dermatology
https://www.readbyqxmd.com/read/29352744/crystal-structure-of-adp-dependent-glucokinase-from-methanocaldococcus-jannaschii-in-complex-with-5-iodotubercidin-reveals-phosphoryl-transfer-mechanism
#15
Piotr Tokarz, Magdalena Wiśniewska, Marcin M Kamiński, Grzegorz Dubin, Przemysław Grudnik
ADP-dependent glucokinase (ADPGK) is an alternative novel glucose phosphorylating enzyme in a modified glycolysis pathway of hyperthermophilic Archaea. In contrast to classical ATP-dependent hexokinases, ADPGK utilizes ADP as a phosphoryl group donor. Here we present a crystal structure of archaeal ADPGK from Methanocaldococcus jannaschii in complex with an inhibitor, 5-iodotubercidin, D-glucose, inorganic phosphate and a magnesium ion. Detailed analysis of the architecture of the active site allowed for confirmation of the previously proposed phosphorylation mechanism and the crucial role of the invariant arginine residue (Arg197)...
January 20, 2018: Protein Science: a Publication of the Protein Society
https://www.readbyqxmd.com/read/29352717/should-we-use-cell-of-origin-and-dual-protein-expression-in-treating-dlbcl
#16
REVIEW
Peter A Riedell, Sonali M Smith
Treatment outcomes in diffuse large B-cell lymphoma (DLBCL) following standard R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone) therapy is highly variable and dependent on a number of clinical, biologic, and genetic features. The identification of molecular heterogeneity via gene expression profiling dichotomizes patients based on the cell of origin (COO) model into germinal center B-cell-like (GCB) and activated B-cell-like (ABC) subsets, with ABC-DLBCL having a worse outcome...
December 24, 2017: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/29352562/cbs-mutations-are-good-predictors-for-b6-responsiveness-a-study-based-on-the-analysis-of-35-brazilian-classical-homocystinuria-patients
#17
Soraia Poloni, Fernanda Sperb-Ludwig, Taciane Borsatto, Giovana Weber Hoss, Maria Juliana R Doriqui, Emília K Embiruçu, Ney Boa-Sorte, Charles Marques, Chong A Kim, Carolina Fischinger Moura de Souza, Helio Rocha, Marcia Ribeiro, Carlos E Steiner, Carolina A Moreno, Pricila Bernardi, Eugenia Valadares, Osvaldo Artigalas, Gerson Carvalho, Hector Y C Wanderley, Johanna Kugele, Melanie Walter, Lorena Gallego-Villar, Henk J Blom, Ida Vanessa D Schwartz
BACKGROUND: Classical homocystinuria (HCU) is a monogenic disease caused by the deficient activity of cystathionine β-synthase (CβS). The objective of this study was to identify the CBS mutations in Brazilian patients with HCU. METHODS: gDNA samples were obtained for 35 patients (30 families) with biochemically confirmed diagnosis of HCU. All exons and exon-intron boundaries of CBS gene were sequenced. Gene expression analysis by qRT-PCR was performed in six patients...
January 20, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29352308/high-efficiency-production-of-human-serum-albumin-in-the-posterior-silk-glands-of-transgenic-silkworms-bombyx-mori-l
#18
Qiujie Qian, Zhengying You, Lupeng Ye, Jiaqian Che, Yiran Wang, Shaohua Wang, Boxiong Zhong
Human serum albumin (HSA) is an important biological preparation with a variety of biological functions in clinical applications. In this study, the mRNA of a fusion transposase derived from the pESNT-PBase plasmid and a pBHSA plasmid containing the HSA gene under the control of a fibroin light chain (FL) promoter were co-injected into fertilized eggs. Fifty-six transgenic silkworm pedigrees expressing theexogenous recombinant HSA (rHSA) in the posterior silk glands (PSGs) with stable inheritance were successfully obtained...
2018: PloS One
https://www.readbyqxmd.com/read/29352300/5-aminosalicylic-acid-improves-lipid-profile-in-mice-fed-a-high-fat-cholesterol-diet-through-its-dual-effects-on-intestinal-ppar%C3%AE-and-ppar%C3%AE
#19
Zheng Wang, Debby Koonen, Marten Hofker, Zhijun Bao
Obesity is associated with a series of metabolic complications, including dyslipidemia and insulin resistance (IR) that lack effective therapies. In recent years, intestinal inflammation has been suggested to contribute to obesity related metabolic syndrome and targeting gut inflammation with 5-ASA improves diet induced IR, however, its role in dyslipidemia is unknown and has never been explored. In the present study, we reported for the first time that administration of 5-ASA for 12 weeks significantly improved lipid profile by repressing plasma triglycerides and free cholesterol levels in mice fed high-fat cholesterol diet (HFC)...
2018: PloS One
https://www.readbyqxmd.com/read/29352272/nuclear-p53-mediated-repression-of-autophagy-involves-pink1-transcriptional-down-regulation
#20
Thomas Goiran, Eric Duplan, Lila Rouland, Wejdane El Manaa, Inger Lauritzen, Julie Dunys, Han You, Frédéric Checler, Cristine Alves da Costa
p53 is a transcription factor that is implicated in the control of both apoptotic and autophagic cell death. This tumor suppressor elicits both pro-autophagic and anti-autophagic phenotypes depending of its intracellular localization. The ability of p53 to repress autophagy has been exclusively associated to its cytoplasmic localization. Here, we show that transcriptional activity of p53 also contributes to autophagy down-regulation. Thus, nuclear p53 controls PINK1, a key protein involved in the control of mitophagy, by repressing its promoter activity, protein and mRNA levels, ex-vivo and in vivo...
January 19, 2018: Cell Death and Differentiation
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