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https://www.readbyqxmd.com/read/29334710/-a-study-on-genotype-of-271-mycobacterium-tuberculosis-isolates-in-6-prefectures-in-yunnan-province
#1
L Y Chen, X Yang, H H Ru, H J Yang, S Q Yan, L Ma, J O Chen, R Yang, L Xu
Objective: To understand the characteristics of genotypes of Mycobacterium tuberculosis isolates in Yunnan province, and provide the molecular epidemiological evidence for prevention and control of tuberculosis in Yunnan Province. Methods: Mycobacterium Tuberculosis isolates were collected from 6 prefectures of Yunnan province in 2014 and their Genetypes of Mycobacterium tuberculosis isolates were obtained using spoligotyping and multiple locus variable numbers of tandem repeats analysis (MLVA). The results of spoligotyping were entered into the SITVITWEB database to obtain the Spoligotyping International Type (SIT) patterns and the sublineages of MTB isolates...
January 6, 2018: Zhonghua Yu Fang Yi Xue za Zhi [Chinese Journal of Preventive Medicine]
https://www.readbyqxmd.com/read/29334686/fat-mass-and-obesity-related-gene-variants-rs9939609-and-rs7185735-are-associated-with-second-generation-antipsychotic-induced-weight-gain
#2
Charlotte Schröder, Fabian Czerwensky, Stefan Leucht, Werner Steimer
INTRODUCTION: Weight gain is a limiting and frequent adverse effect of second-generation antipsychotic therapy. Identifying genetic risk factors would significantly improve pharmacotherapy. METHODS: We focused on rs7185735 and rs9939609, 2 common single nucleotide polymorphisms of the fat mass and obesity-associated (FTO) gene reported to be associated with obesity. Three-hundred fifty Caucasian inpatients were included in a naturalistic study. RESULTS: After 4 weeks of treatment, we did not observe any significant association of polymorphisms with weight change in the whole study population (p>0...
January 15, 2018: Pharmacopsychiatry
https://www.readbyqxmd.com/read/29334679/the-il20-genetic-polymorphism-is-associated-with-altered-clinical-outcome-in-septic-shock
#3
Taka-Aki Nakada, Petch Wacharasint, James A Russell, John H Boyd, Emiri Nakada, Simone A Thair, Tadanaga Shimada, Keith R Walley
BACKGROUND: The IL10 family of genes includes crucial immune regulators. We tested the hypothesis that single nucleotide polymorphisms (SNPs) in IL10, IL19, IL20, and IL24 of the IL10 family gene cluster alter the clinical outcome of septic shock. METHODS: Patients with septic shock (n = 1,193) were genotyped for 13 tag SNPs of IL10, IL19, IL20, and IL24. IL20 gene expression was measured in genotyped lymphoblastoid cells in vitro. Cardiac surgical ICU patients (n = 981) were genotyped for IL20 rs2981573 A/G...
January 16, 2018: Journal of Innate Immunity
https://www.readbyqxmd.com/read/29334678/genome-evolution-analysis-of-recurrent-testicular-malignant-mesothelioma-by-whole-genome-sequencing
#4
Shigeng Zhang, Qi Zhang, Qing Sun, Jinlong Tang, Jimin Chen, Na Ji, Yichun Zheng, Francia Fang, Wanjun Lei, Pengpeng Li, Nan Zhang
BACKGROUND/AIMS: Malignant mesothelioma of the tunica vaginalis testis is a rare and lethal disease. The genomic characteristics and genetic changes of tumor cells during the progression of this disease are unknown. METHODS: we performed whole-genome sequencing of four successive tumor samples derived from surgery and a blood sample in a single patient. RESULTS: All tumors were found to have significant C-to-T and T-to-C mutations, and amplification of copy number in chromosomes 1 and 12 were notified in all tumor samples...
January 15, 2018: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29334670/genetic-ablation-of-trpv1-exacerbates-pressure-overload-induced-cardiac-hypertrophy
#5
Beihua Zhong, Jack Rubinstein, Shuangtao Ma, Donna H Wang
Transient receptor potential vanilloid 1 (TRPV1) channels expressed in sensory nerves may regulate vascular tone and cardiovascular function via their anti-inflammatory effects by releasing neuropeptide calcitonin gene-related peptide (CGRP). Inflammation plays a role in the progression of cardiac hypertrophy and TRPV1 activation may be key to cardiac inflammatory processes. The aim of this study was to test the hypothesis that TRPV1 modulates inflammatory processes to protect the heart from pressure overload-induced hypertrophy and inflammatory responses...
January 12, 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29334595/cover-image-volume-176a-number-2-february-2018
#6
Ming Hui Chen, Sangita Choudhury, Mami Hirata, Siri Khalsa, Bernard Chang, Christopher A Walsh
The cover image, by Ming Hui Chen et al., is based on the Original Article Thoracic Aortic Aneurysm in Patients with Loss of Function Filamin A Mutations: Clinical Characterization, Genetics, and Recommendations, DOI: 10.1002/ajmg.a.38580.
February 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29334594/thoracic-aortic-aneurysm-in-patients-with-loss-of-function-filamin-a-mutations-clinical-characterization-genetics-and-recommendations
#7
Ming Hui Chen, Sangita Choudhury, Mami Hirata, Siri Khalsa, Bernard Chang, Christopher A Walsh
The frequency and gender distribution of thoracic aortic aneurysm as a cardiovascular manifestation of loss-of-function (LOF) X-linked FilaminA (FLNA) mutations are not known. Furthermore, there is very limited cardiovascular morbidity or mortality data in children and adults. We analyzed cardiac data on the largest series of 114 patients with LOF FLNA mutations, both children and adults, with periventricular nodular heterotopia (PVNH), including 48 study patients and 66 literature patients, median age of 22...
February 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29334591/gtex-project-maps-wide-range-of-normal-human-genetic-variation-a-unique-catalog-and-follow-up-effort-associate-variation-with-gene-expression-across-dozens-of-body-tissues
#8
(no author information available yet)
No abstract text is available yet for this article.
February 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29334561/preoperative-18f-fdg-pet-ct-in-pheochromocytomas-and-paragangliomas-allows-for-precision-surgery
#9
Pavel Nockel, Mustapha El Lakis, Apostolos Gaitanidis, Roxanne Merkel, Dhaval Patel, Naris Nilubol, Tamara Prodanov, Karel Pacak, Electron Kebebew
BACKGROUND: Fluorodeoxyglucose (F-FDG) positron emission tomography/computed tomography (PET/CT) imaging is recommended in patients with metastatic pheochromocytoma (PC) and paraganglioma (PGL). There are no data on whether routine preoperative F-FDG PET/CT in all patients with PC/PGL impacts surgical management. OBJECTIVE: The aim of this study was to determine whether routine preoperative F-FDG PET/CT imaging affects the surgical management of patients with PC/PGLs...
January 12, 2018: Annals of Surgery
https://www.readbyqxmd.com/read/29334543/seminoma-metastatic-to-the-orbit
#10
Jonathan J Dutton, Alan D Proia
PURPOSE: Seminomas are solid tumors in young men, but which rarely metastasize to the orbit. The authors review the known literature on seminoma metastatic to the orbit, and describe an additional case in a 33-year-old man. METHODS: A literature search was performed on the MEDLINE database using keywords "seminoma," "testicular germ-cell tumors," "testicular cancer," "testicular neoplasm," "orbital metastasis," and "germ-cell neoplasms." RESULTS: Malignant neoplasms of the testis account for only 1% of cancers in men...
January 12, 2018: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29334503/family-history-of-autoimmune-diseases-and-risk-of-gastric-cancer-a-national-cohort-study
#11
Jianguang Ji, Jan Sundquist, Kristina Sundquist
A personal history of autoimmune diseases is associated with an increased incidence of gastric cancer, but whether they share familial susceptibility is still unknown. The contribution of shared environmental or genetic factors toward the observed familial aggregation has not been determined. We used a few Swedish registers, including the Swedish Multigeneration Register and the Cancer Register, to examine the familial risk of gastric cancer among individuals with a family history of a set of autoimmune diseases...
January 12, 2018: European Journal of Cancer Prevention
https://www.readbyqxmd.com/read/29334416/investigating-causal-associations-between-use-of-nicotine-alcohol-caffeine-and-cannabis-a-two-sample-bidirectional-mendelian-randomization-study
#12
Karin J H Verweij, Jorien L Treur, Jacqueline M Vink
BACKGROUND AND AIMS: Epidemiological studies consistently show co-occurrence of use of different addictive substances. Whether these associations are causal or due to overlapping underlying influences remains an important question in addiction research. Methodological advances have made it possible to use published genetic associations to infer causal relationships between phenotypes. In this exploratory study, we used Mendelian randomization (MR) to examine the causality of well-established associations between nicotine, alcohol, caffeine, and cannabis use...
January 15, 2018: Addiction
https://www.readbyqxmd.com/read/29334412/stallion-semen-quality-depends-on-mhc-matching-to-teaser-mare
#13
E Jeannerat, E Marti, C Berney, F Janett, H Bollwein, H Sieme, D Burger, C Wedekind
The major histocompatibility complex (MHC) has repeatedly been found to influence mate choice of vertebrates, with MHC-dissimilar mates typically being preferred over MHC-similar mates. We used horses (Equus caballus) to test whether MHC matching also affects male investment into ejaculates after short exposure to a female. Semen characteristics varied much among stallions. Controlling for this variance with a full-factorial within-subject experimental design, we found that a short exposure to an MHC-dissimilar mare enhanced male plasma testosterone and led to ejaculates with elevated sperm numbers as compared to exposure to an MHC-similar mare...
January 15, 2018: Molecular Ecology
https://www.readbyqxmd.com/read/29334409/climate-driven-mitochondrial-selection-a-test-in-australian-songbirds
#14
Annika Mae Lamb, Han Ming Gan, Chris Greening, Leo Joseph, Yin Peng Lee, Alejandra Morán-Ordóñez, Paul Sunnucks, Alexandra Pavlova
Diversifying selection between populations that inhabit different environments can promote lineage divergence within species and ultimately drive speciation. The mitochondrial genome (mitogenome) encodes essential proteins of the oxidative phosphorylation (OXPHOS) system and can be a strong target for climate-driven selection (i.e. associated with inhabiting different climates). We investigated whether Pleistocene climate changes drove mitochondrial selection and evolution within Australian birds. First, using phylogeographic analyses of the mitochondrial ND2 gene for 17 songbird species, we identified mitochondrial clades (mitolineages)...
January 15, 2018: Molecular Ecology
https://www.readbyqxmd.com/read/29334376/positively-selected-enhancer-elements-endow-osteosarcoma-cells-with-metastatic-competence
#15
James J Morrow, Ian Bayles, Alister P W Funnell, Tyler E Miller, Alina Saiakhova, Michael M Lizardo, Cynthia F Bartels, Maaike Y Kapteijn, Stevephen Hung, Arnulfo Mendoza, Gursimran Dhillon, Daniel R Chee, Jay T Myers, Frederick Allen, Marco Gambarotti, Alberto Righi, Analisa DiFeo, Brian P Rubin, Alex Y Huang, Paul S Meltzer, Lee J Helman, Piero Picci, Henri Versteeg, John Stamatoyannopolus, Chand Khanna, Peter C Scacheri
Metastasis results from a complex set of traits acquired by tumor cells, distinct from those necessary for tumorigenesis. Here, we investigate the contribution of enhancer elements to the metastatic phenotype of osteosarcoma. Through epigenomic profiling, we identify substantial differences in enhancer activity between primary and metastatic human tumors and between near isogenic pairs of highly lung metastatic and nonmetastatic osteosarcoma cell lines. We term these regions metastatic variant enhancer loci (Met-VELs)...
January 15, 2018: Nature Medicine
https://www.readbyqxmd.com/read/29334369/dual-gene-activation-and-knockout-screen-reveals-directional-dependencies-in-genetic-networks
#16
Michael Boettcher, Ruilin Tian, James A Blau, Evan Markegard, Ryan T Wagner, David Wu, Xiulei Mo, Anne Biton, Noah Zaitlen, Haian Fu, Frank McCormick, Martin Kampmann, Michael T McManus
Understanding the direction of information flow is essential for characterizing how genetic networks affect phenotypes. However, methods to find genetic interactions largely fail to reveal directional dependencies. We combine two orthogonal Cas9 proteins from Streptococcus pyogenes and Staphylococcus aureus to carry out a dual screen in which one gene is activated while a second gene is deleted in the same cell. We analyze the quantitative effects of activation and knockout to calculate genetic interaction and directionality scores for each gene pair...
January 15, 2018: Nature Biotechnology
https://www.readbyqxmd.com/read/29334357/differential-requirements-of-androgen-receptor-in-luminal-progenitors-during-prostate-regeneration-and-tumor-initiation
#17
Chee Wai Chua, Nusrat J Epsi, Eva Y Leung, Shouhong Xuan, Ming Lei, Bo I Li, Sarah K Bergren, Hanina Hibshoosh, Antonina Mitrofanova, Michael M Shen
Master regulatory genes of tissue specification play key roles in stem/progenitor cells and are often important in cancer. In the prostate, androgen receptor (AR) is a master regulator essential for development and tumorigenesis, but its specific functions in prostate stem/progenitor cells have not been elucidated. We have investigated AR function in CARNs (CAstration-Resistant Nkx3.1-expressing cells), a luminal stem/progenitor that functions in prostate regeneration. Using genetically-engineered mouse models and novel prostate epithelial cell lines, we find that progenitor properties of CARNs are largely unaffected by AR deletion, apart from decreased proliferation in vivo...
January 15, 2018: ELife
https://www.readbyqxmd.com/read/29334356/p53-suppresses-mutagenic-rad52-and-pol%C3%AE-pathways-by-orchestrating-dna-replication-restart-homeostasis
#18
Sunetra Roy, Karl-Heinz Tomaszowski, Jessica W Luzwick, Soyoung Park, Jun Li, Maureen Murphy, Katharina Schlacher
Classically, p53 tumor suppressor acts in transcription, apoptosis, and cell cycle arrest. Yet, replication-mediated genomic instability is integral to oncogenesis, and p53 mutations promote tumor progression and drug-resistance. By delineating human and murine separation-of-function p53 alleles, we find that p53 null and gain-of-function (GOF) mutations exhibit defects in restart of stalled or damaged DNA replication forks driving genomic instability genetically separable from transcription activation. By assaying protein-DNA fork interactions in single cells, we unveil a p53-MLL3-enabled recruitment of MRE11 DNA replication restart nuclease...
January 15, 2018: ELife
https://www.readbyqxmd.com/read/29334355/retraction-genetic-characterization-and-assessment-of-demographic-bottleneck-in-caspian-horse-population
#19
(no author information available yet)
[This delete the article DOI: 10.14715/cmb/2017.63.11.16.].
December 31, 2017: Cellular and Molecular Biology
https://www.readbyqxmd.com/read/29334348/assessing-the-readiness-of-precision-medicine-interoperabilty-an-exploratory-study-of-the-national-institutes-of-health-genetic-testing-registry
#20
Jay G Ronquillo, Chunhua Weng, William T Lester
BACKGROUND:   Precision medicine involves three major innovations currently taking place in healthcare:  electronic health records, genomics, and big data.  A major challenge for healthcare providers, however, is understanding the readiness for practical application of initiatives like precision medicine. OBJECTIVE:   To better understand the current state and challenges of precision medicine interoperability using a national genetic testing registry as a starting point, placed in the context of established interoperability formats...
November 17, 2017: Journal of Innovation in Health Informatics
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