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https://www.readbyqxmd.com/read/28545104/pkng-senses-amino-acid-availability-to-control-metabolism-and-virulence-of-mycobacterium-tuberculosis
#1
Barbara Rieck, Giulia Degiacomi, Michael Zimmermann, Alessandro Cascioferro, Francesca Boldrin, Natalie R Lazar-Adler, Andrew R Bottrill, Fabien le Chevalier, Wafa Frigui, Marco Bellinzoni, María-Natalia Lisa, Pedro M Alzari, Liem Nguyen, Roland Brosch, Uwe Sauer, Riccardo Manganelli, Helen M O'Hare
Sensing and response to changes in nutrient availability are essential for the lifestyle of environmental and pathogenic bacteria. Serine/threonine protein kinase G (PknG) is required for virulence of the human pathogen Mycobacterium tuberculosis, and its putative substrate GarA regulates the tricarboxylic acid cycle in M. tuberculosis and other Actinobacteria by protein-protein binding. We sought to understand the stimuli that lead to phosphorylation of GarA, and the roles of this regulatory system in pathogenic and non-pathogenic bacteria...
May 17, 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28545069/behavioral-alterations-are-associated-with-vitamin-b12-deficiency-in-the-transcobalamin-receptor-cd320-ko-mouse
#2
Kaveri Arora, Jeffrey M Sequeira, Alejandro I Hernández, Juan M Alarcon, Edward V Quadros
Vitamin B12 (cobalamin) deficiency is prevalent worldwide and causes megaloblastic anemia and neurologic deficits. While the anemia can be treated, the neurologic deficits can become refractive to treatment as the disease progresses. Therefore, timely intervention is critical for a favorable outcome. Moreover, the metabolic basis for the neuro-pathologic changes and the role of cobalamin deficiency in the pathology still remains unexplained. Using a transcobalamin receptor / CD320 knockout mouse that lacks the receptor for cellular uptake of transcobalamin bound cobalamin, we aimed to determine whether cobalamin deficiency in the central nervous system produced functional neurologic deficits in the mouse that would parallel those observed in humans...
2017: PloS One
https://www.readbyqxmd.com/read/28545024/an-unusual-intragenic-promoter-of-piwil2-contributes-to-aberrant-activation-of-oncogenic-pl2l60
#3
Shan-Shan Liu, Ning Liu, Meng-Yao Liu, Lei Sun, Wu-Yan Xia, Hong-Min Lu, Yu-Jie Fu, Guo-Liang Yang, Juan-Jie Bo, Xiao-Xing Liu, Haizhong Feng, Hailong Wu, Lin-Feng Li, Jian-Xin Gao
PIWIL2-like (PL2L) protein 60 (PL2L60), a product of aberrantly activated PIWIL2 gene, is widely expressed in various types of tumors and may promote tumorigenesis. However, the mechanisms underlying the activation of expression of PL2L60 remain unknown. In this study, an intragenic promoter responsible for the activation of PL2L60 within the human PIWIL2 gene has been identified, cloned and characterized. The promoter of PL2L60 is located in the intron 10 of the host gene PIWIL2. Bioinformatic and mutagenic analysis reveals that this intragenic promoter within the sequence of 50 nucleotides contains two closely arranged cis-acting elements specific for the hepatic leukemia factor (HLF) in the positive strand and signal transducer and activator of transcription 3 (STAT3) in the negative strand...
May 2, 2017: Oncotarget
https://www.readbyqxmd.com/read/28544727/ultraviolet-radiation-accelerates-nras-mutant-melanomagenesis-a-cooperative-effect-blocked-by-sunscreen
#4
Rebecca C Hennessey, Andrea M Holderbaum, Anamaria Bonilla, Conor Delaney, James E Gillahan, Kathleen L Tober, Tatiana M Oberyszyn, Jonathan H Zippin, Christin E Burd
To mitigate melanoma risk, sunscreen use is widely advocated; yet, the ability of sunscreens to prevent melanoma remains controversial. Here, we test the tenet that sunscreens limit melanoma risk by blocking ultraviolet radiation (UV)-induced DNA damage using murine models that recapitulate the genetics and spontaneous evolution of human melanoma. We find that a single, non-erythematous dose of UV dramatically accelerates melanoma onset and increases tumor multiplicity in mice carrying an endogenous, melanocyte-specific NRas(61R) allele...
May 24, 2017: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/28544663/from-song-dialects-to-speciation-in-white-crowned-sparrows
#5
David P L Toews
The behavioural signals used in mate selection are a key component in the evolution of premating isolating barriers and, subsequently, the formation of new species. The importance of mating signals has a long tradition of study in songbirds, where many species differ in their song characteristics. In oscine songbirds, individual birds usually learn their songs from a tutor. Mistakes during learning can help generate geographic dialects, akin to those within human language groups. In songbirds, dialect differences can often be substantial and there is an intuitive connection between the evolution of song amongst populations at a small scale, and the more substantive song differences between bird species and presumably used in species recognition...
June 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28544620/phenotyping-cardiac-and-structural-birth-defects-in-fetal-and-newborn-mice
#6
REVIEW
Xiaoqin Liu, Andrew J Kim, William Reynolds, Yijen Wu, Cecilia W Lo
Mouse models are invaluable for investigating the developmental etiology and molecular pathogenesis of structural birth defects. While this has been deployed for studying a wide spectrum of birth defects, mice are particularly valuable for modeling congenital heart disease, given they have the same four-chamber cardiac anatomy as in humans. We have developed the use of noninvasive fetal ultrasound together with micro-computed tomography (micro-CT) imaging for high throughput phenotyping of mice for congenital heart defects (CHD) and other developmental anomalies...
May 22, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28544218/genome-wide-mediation-analysis-of-psychiatric-and-cognitive-traits-through-imaging-phenotypes
#7
Xuan Bi, Liuqing Yang, Tengfei Li, Baisong Wang, Hongtu Zhu, Heping Zhang
Heritability is well documented for psychiatric disorders and cognitive abilities which are, however, complex, involving both genetic and environmental factors. Hence, it remains challenging to discover which and how genetic variations contribute to such complex traits. In this article, they propose to use mediation analysis to bridge this gap, where neuroimaging phenotypes were utilized as intermediate variables. The Philadelphia Neurodevelopmental Cohort was investigated using genome-wide association studies (GWAS) and mediation analyses...
May 22, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28544217/towards-a-crispr-picture-use-of-crispr-cas9-to-model-diseases-in-human-stem-cells-in-vitro
#8
Jamie L Freiermuth, Ian J Powell-Castilla, G Ian Gallicano
Human induced pluripotent stem cells (iPSCs) can be differentiated into any cell in the body unlocking enormous research potential. Combined with the recent discovery of CRISPR/Cas9 endonucleases in bacteria and their modification for use in biomedical research, these methods have the potential to revolutionize the field of genetic engineering and open the door to generating in vitro models that more closely resemble the in vivo system than ever before. Use of CRISPR/Cas9 has created a whirlwind within the scientific community in the last few years, as the race to move beyond just disease analysis and towards the goal of gene and cell therapy moves further...
May 23, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28544185/ketoacidosis-at-diagnosis-of-type-1-diabetes-effect-of-prospective-studies-with-newborn-genetic-screening-and-follow-up-of-risk-children
#9
Anne M Hekkala, Jorma Ilonen, Jorma Toppari, Mikael Knip, Riitta Veijola
We studied the frequency of diabetic ketoacidosis (DKA) in children at diagnosis of type 1 diabetes (T1D) in a region where newborn infants have since 1995 been recruited for genetic screening for human leukocyte antigen (HLA)-conferred disease susceptibility and prospective follow up. The aim was to study whether participation in newborn screening and follow up affected the frequency of DKA, and to follow the time trends in DKA frequency. We first included children born in Oulu University Hospital since 1995 when the prospective studies have been ongoing and diagnosed with T1D <15 years by 2015 (study cohort 1, n = 517)...
May 23, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/28544158/molecular-and-physiological-manifestations-and-measurement-of-aging-in-humans
#10
REVIEW
Sadiya S Khan, Benjamin D Singer, Douglas E Vaughan
Biological aging is associated with a reduction in the reparative and regenerative potential in tissues and organs. This reduction manifests as a decreased physiological reserve in response to stress (termed homeostenosis) and a time-dependent failure of complex molecular mechanisms that cumulatively create disorder. Aging inevitably occurs with time in all organisms and emerges on a molecular, cellular, organ, and organismal level with genetic, epigenetic, and environmental modulators. Individuals with the same chronological age exhibit differential trajectories of age-related decline, and it follows that we should assess biological age distinctly from chronological age...
May 23, 2017: Aging Cell
https://www.readbyqxmd.com/read/28543983/mutation-of-serine-threonine-protein-kinase-36-stk36-causes-primary-ciliary-dyskinesia-with-a-central-pair-defect
#11
Christine Edelbusch, Sandra Cindrić, Gerard W Dougherty, Niki T Loges, Heike Olbrich, Joseph Rivlin, Julia Wallmeier, Petra Pennekamp, Israel Amirav, Heymut Omran
Primary ciliary dyskinesia (PCD) is a genetic condition of impaired ciliary beating, characterized by chronic infections of the upper and lower airways and progressive lung failure. Defects of the outer dynein arms are the most common cause of PCD. In about half of the affected individuals, PCD occurs with situs inversus (Kartagener syndrome). A minor PCD subgroup including defects of the radial spokes (RS) and central pair (CP) is hallmarked by the absence of laterality defects, subtle beating abnormalities and unequivocally apparent ultrastructural defects of the ciliary axoneme, making their diagnosis challenging...
May 23, 2017: Human Mutation
https://www.readbyqxmd.com/read/28543951/determination-of-genetic-relatedness-from-low-coverage-human-genome-sequences-using-pedigree-simulations
#12
Michael D Martin, Flora Jay, Sergi Castellano, Montgomery Slatkin
We develop and evaluate methods for inferring relatedness among individuals from low-coverage DNA sequences of their genomes, with particular emphasis on sequences obtained from fossil remains. We suggest the major factors complicating the determination of relatedness among ancient individuals are sequencing depth, the number of overlapping sites, the sequencing error rate, and the presence of contamination from present-day genetic sources. We develop a theoretical model that facilitates the exploration of these factors and their relative effects, via measurement of pairwise genetic distances, without calling genotypes, and determine the power to infer relatedness under various scenarios of varying sequencing depth, present-day contamination, and sequencing error...
May 25, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28543740/global-regulatory-requirements-for-mutagenicity-assessment-in-the-registration-of-industrial-chemicals
#13
REVIEW
Zhiying Ji, Nicholas S Ball, Matthew J LeBaron
Mutagenicity is an important toxicological endpoint that requires thorough evaluation during the industrial chemical registration process. Regulatory requirements for mutagenicity assessment in registration of industrial chemicals vary in geographic regions (and in some cases by intended application). Here we compile the mutagenicity testing requirements for registration of industrial chemicals from representative geographic regions (in alphabetical order), that is Australia, Brazil, Canada, China, European Union (EU), India, Japan, South Korea, Taiwan, and United States (US)...
May 25, 2017: Environmental and Molecular Mutagenesis
https://www.readbyqxmd.com/read/28543645/reflections-on-the-national-bioethics-advisory-commission-and-models-of-public-bioethics
#14
James F Childress
The National Bioethics Advisory Commission, of which I was a member, was established by a 1995 executive order that identified its "first priority" as "the protection of the rights and welfare of human research subjects." Not surprisingly, then, most of NBAC's work focused on research involving human subjects or participants. A second priority concerned "issues in the management and use of genetics information, including but not limited to, human gene patenting." NBAC's charter (in contrast to the executive order) listed this charge as "part B" of the "first priority...
May 2017: Hastings Center Report
https://www.readbyqxmd.com/read/28543567/tgr5-contributes-to-hepatic-cystogenesis-in-rodents-with-polycystic-liver-diseases-via-camp-g%C3%AE-s-signaling
#15
Tatyana V Masyuk, Anatoliy I Masyuk, Maria Lorenzo Pisarello, Brynn N Howard, Bing Q Huang, Pui-Yuen Lee, Xavier Fung, Eduard Sergienko, Robert J Ardesky, Thomas Dy Chung, Anthony B Pinkerton, Nicholas F LaRusso
Hepatic cystogenesis in Polycystic Liver Disease (PLD) is associated with increased levels of cAMP in cholangiocytes lining liver cysts. TGR5, a G protein-coupled bile acid receptor, is linked to cAMP and expressed in cholangiocytes. Therefore, we hypothesized that TGR5 might contribute to disease progression. We examined expression of TGR5 and Gα proteins in cultured cholangiocytes and in livers of animal models and humans with PLD. In vitro, we assessed cholangiocyte proliferation, cAMP levels, and cyst growth in response to: (i) TGR5 agonists [taurolithocholic acid (TLCA), oleanolic acid (OA) and two synthetic compounds]; (ii) a novel TGR5 antagonist (SBI-115); and (iii) a combination of SBI-115 and pasireotide, a somatostatin receptor (SSTR) analog...
May 23, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28543417/toward-public-bioethics
#16
EDITORIAL
Gregory E Kaebnick
This issue of the Hastings Center Report (May-June 2017) features a couple of interesting takes on the governance challenges of emerging technologies. In an essay on the National Academies of Science, Engineering, and Medicine report published this February on human germ-line gene editing, Eric Juengst, a philosopher at the University of North Carolina, argues that the NASEM committee did not manage to rethink the rules. Juengst reaches what he calls an "eccentric conclusion": "The committee's 2017 consensus report has been widely interpreted as 'opening the door' to inheritable human genetic modification and holding a line against enhancement interventions...
May 2017: Hastings Center Report
https://www.readbyqxmd.com/read/28543411/crowdsourcing-the-moral-limits-of-human-gene-editing
#17
Eric T Juengst
In 2015, a flourish of "alarums and excursions" by the scientific community propelled CRISPR/Cas9 and other new gene-editing techniques into public attention. At issue were two kinds of potential gene-editing experiments in humans: those making inheritable germ-line modifications and those designed to enhance human traits beyond what is necessary for health and healing. The scientific consensus seemed to be that while research to develop safe and effective human gene editing should continue, society's moral uncertainties about these two kinds of experiments needed to be better resolved before clinical trials of either type should be attempted...
May 2017: Hastings Center Report
https://www.readbyqxmd.com/read/28543177/fingerprints-of-resistant-escherichia-coli-o157-h7-from-vegetables-and-environmental-samples
#18
G O Abakpa, V J Umoh, S Kamaruzaman, A M Ibekwe
BACKGROUND: Some routes of transmission of E. coli O157:H7 to fresh produce include contaminated irrigation water and manure polluted soils. The aim of this study was to determine the genetic relationships of E. coli O157:H7 isolated from some produce growing region in Nigeria using Enterorepititive Intergenic Consensus Deoxyribonucleic Acid Fingerprinting (ERIC-PCR) analysis. A total of four hundred and forty samples comprising leafy greens, irrigation water, manure, and soil were obtained from vegetable producing regions in Kano and Plateau States, Nigeria...
May 23, 2017: Journal of the Science of Food and Agriculture
https://www.readbyqxmd.com/read/28542929/the-immune-response-to-prevotella-bacteria-in-chronic-inflammatory-disease
#19
REVIEW
Jeppe Madura Larsen
The microbiota plays a central role in human health and disease by shaping immune development, immune responses, metabolism, and protecting from invading pathogens. Technical advances that allow comprehensive characterization of microbial communities by genetic sequencing have sparked the hunt for disease modulating bacteria. Emerging studies in humans have linked increased abundance of Prevotella species at mucosal sites to localized and systemic disease, including periodontitis, bacterial vaginosis, rheumatoid arthritis, metabolic disorders, and low-grade systemic inflammation...
May 19, 2017: Immunology
https://www.readbyqxmd.com/read/28542881/genetic-susceptibility-in-cervical-cancer-from-bench-to-bedside
#20
Afsane Bahrami, Malihe Hasanzadeh, Soodabeh Shahidsales, Marjaneh Farazestanian, Seyed Mahdi Hassanian, Mehrdad Ahmadi, Mina Maftouh, Masoumeh Gharib, Zohre Yousefi, Sima Kadkhodayan, Gordon A Ferns, Amir Avan
Cervical cancer (CC) is the third most common malignancy in women globally, and persistent infection with the oncogenic human papillomaviruses (HPV) is recognized as the major risk factor. The pathogenesis of CC relies on the interplay between the tumorigenic properties of the HPV and host factors. Host-related genetic factors, including the presence of susceptibility loci for cervix tumor is substantial importance. Preclinical and genome-wide association studies (GWAS) have reported the associations of genetic variations in several susceptibility loci for the development of cervical cancer...
May 19, 2017: Journal of Cellular Physiology
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