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https://www.readbyqxmd.com/read/27926992/inherited-diseases-caused-by-mutations-in-cathepsin-protease-genes
#1
REVIEW
Stephanie Ketterer, Alejandro Gomez-Auli, Larissa E Hillebrand, Agnese Petrera, Anett Ketscher, Thomas Reinheckel
Lysosomal cathepsins are proteolytic enzymes increasingly recognized as prognostic markers and potential therapeutic targets in a variety of diseases. In those conditions the cathepsins are mostly overexpressed, thereby driving the respective pathogenic processes. Although less known, there are also diseases with a genetic deficiency of cathepsins. In fact, nowadays six out of the fifteen human proteases called "cathepsins" have been linked to inherited syndromes. However, only three of these syndromes are typical lysosomal storage diseases, while the others are apparently caused by defective cleavage of specific protein substrates...
December 7, 2016: FEBS Journal
https://www.readbyqxmd.com/read/27926991/human-mitochondrial-nucleases
#2
REVIEW
Francesco Bruni, Robert N Lightowlers, Zofia M Chrzanowska-Lightowlers
Mitochondria are cytosolic organelles that have many essential roles including ATP production via oxidative phosphorylation, apoptosis, iron-sulphur cluster biogenesis, heme and steroid synthesis, calcium homeostasis and regulation of cellular redox state. One of the unique features of these organelles is the presence of an extra-chromosomal mitochondrial genome (mtDNA), together with all the machinery required to replicate and transcribe mtDNA. The accurate maintenance of mitochondrial gene expression is essential for correct organellar metabolism, and is in part dependent on the levels of mtDNA and mt-RNA, which are regulated by balancing synthesis against degradation...
December 7, 2016: FEBS Journal
https://www.readbyqxmd.com/read/27926942/actin-related-protein-2-arp2-and-virus-induced-filopodia-facilitate-human-respiratory-syncytial-virus-spread
#3
Masfique Mehedi, Thomas McCarty, Scott E Martin, Cyril Le Nouën, Eugen Buehler, Yu-Chi Chen, Margery Smelkinson, Sundar Ganesan, Elizabeth R Fischer, Linda G Brock, Bo Liang, Shirin Munir, Peter L Collins, Ursula J Buchholz
Human respiratory syncytial virus (RSV) is an enveloped RNA virus that is the most important viral cause of acute pediatric lower respiratory tract illness worldwide, and lacks a vaccine or effective antiviral drug. The involvement of host factors in the RSV replicative cycle remains poorly characterized. A genome-wide siRNA screen in human lung epithelial A549 cells identified actin-related protein 2 (ARP2) as a host factor involved in RSV infection. ARP2 knockdown did not reduce RSV entry, and did not markedly reduce gene expression during the first 24 hr of infection, but decreased viral gene expression thereafter, an effect that appeared to be due to inhibition of viral spread to neighboring cells...
December 2016: PLoS Pathogens
https://www.readbyqxmd.com/read/27926935/serological-and-virological-evidence-of-crimean-congo-haemorrhagic-fever-virus-circulation-in-the-human-population-of-borno-state-northeastern-nigeria
#4
David N Bukbuk, Stuart D Dowall, Kuiama Lewandowski, Andrew Bosworth, Saka S Baba, Anitha Varghese, Robert J Watson, Andrew Bell, Barry Atkinson, Roger Hewson
BACKGROUND: Despite several studies on the seroprevalence of antibodies against Crimean-Congo Haemorrhagic Fever virus (CCHFV) from humans and cattle in Nigeria, detailed investigation looking at IgG and IgM have not been reported. Additionally, there have been no confirmed cases of human CCHFV infection reported from Nigeria. PRINCIPAL FINDINGS: Samples from sera (n = 1189) collected from four Local Government Areas in Borno State (Askira/Uba, Damboa, Jere and Maiduguri) were assessed for the presence of IgG and IgM antibodies...
December 2016: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/27926932/epsin-family-member-3-and-ribosome-related-genes-are-associated-with-late-metastasis-in-estrogen-receptor-positive-breast-cancer-and-long-term-survival-in-non-small-cell-lung-cancer-using-a-genome-wide-identification-and-validation-strategy
#5
Birte Hellwig, Katrin Madjar, Karolina Edlund, Rosemarie Marchan, Cristina Cadenas, Anne-Sophie Heimes, Katrin Almstedt, Antje Lebrecht, Isabel Sicking, Marco J Battista, Patrick Micke, Marcus Schmidt, Jan G Hengstler, Jörg Rahnenführer
BACKGROUND: In breast cancer, gene signatures that predict the risk of metastasis after surgical tumor resection are mainly indicative of early events. The purpose of this study was to identify genes linked to metastatic recurrence more than three years after surgery. METHODS: Affymetrix HG U133A and Plus 2.0 array datasets with information on metastasis-free, disease-free or overall survival were accessed via public repositories. Time restricted Cox regression models were used to identify genes associated with metastasis during or after the first three years post-surgery (early- and late-type genes)...
2016: PloS One
https://www.readbyqxmd.com/read/27926922/high-speed-mouse-backcrossing-through-the-female-germ-line
#6
Erin Grove, Sigrid Eckardt, K John McLaughlin
Transferring mouse mutations into specific mouse strain backgrounds can be critical for appropriate analysis of phenotypic effects of targeted genomic alterations and quantitative trait loci. Speed congenic breeding strategies incorporating marker-assisted selection of progeny with the highest percentage target background as breeders for the next generation can produce congenic strains within approximately 5 generations. When mating selected donor males to target strain females, this may require more than 1 year, with each generation lasting 10 to 11 weeks including 3 weeks of gestation and 7 to 8 weeks until the males reach sexual maturity...
2016: PloS One
https://www.readbyqxmd.com/read/27926907/mammalian-meiotic-recombination-a-toolbox-for-genome-evolution
#7
Laia Capilla, Montserrat Garcia Caldés, Aurora Ruiz-Herrera
Meiotic recombination is a process that increases genetic diversity and is fundamental for sexual reproduction. Determining by which mechanisms genetic variation is generated and maintained across different phylogenetic groups provides the basis for our understanding of biodiversity and evolution. In this review, we go through different aspects of this essential phenomenon, paying special attention to mammals. We provide a comprehensive view on the organization of meiotic chromosomes and the mechanisms involved in the formation and genomic distribution of recombination hotspots, focusing on the factors influencing the formation and repair of the massive amount of self-induced DNA breaks in early stages of meiosis...
December 8, 2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27926888/precision-medicine-genomics-and-public-health
#8
Donna K Arnett, Steven A Claas
No abstract text is available yet for this article.
November 2016: Diabetes Care
https://www.readbyqxmd.com/read/27926887/the-application-of-genomics-in-diabetes-barriers-to-discovery-and-implementation
#9
James S Floyd, Bruce M Psaty
The emerging availability of genomic and electronic health data in large populations is a powerful tool for research that has drawn interest in bringing precision medicine to diabetes. In this article, we discuss the potential application of genomics to the prediction, prevention, and treatment of diabetes, and we use examples from other areas of medicine to illustrate some of the challenges involved in conducting genomics research in human populations and implementing findings in practice. At this time, a major barrier to the application of genomics in diabetes care is the lack of actionable genomic findings...
November 2016: Diabetes Care
https://www.readbyqxmd.com/read/27926879/in%C3%A2-vitro-derivation-and-propagation-of-spermatogonial-stem-cell-activity-from-mouse-pluripotent-stem-cells
#10
Yukiko Ishikura, Yukihiro Yabuta, Hiroshi Ohta, Katsuhiko Hayashi, Tomonori Nakamura, Ikuhiro Okamoto, Takuya Yamamoto, Kazuki Kurimoto, Kenjiro Shirane, Hiroyuki Sasaki, Mitinori Saitou
The in vitro derivation and propagation of spermatogonial stem cells (SSCs) from pluripotent stem cells (PSCs) is a key goal in reproductive science. We show here that when aggregated with embryonic testicular somatic cells (reconstituted testes), primordial germ cell-like cells (PGCLCs) induced from mouse embryonic stem cells differentiate into spermatogonia-like cells in vitro and are expandable as cells that resemble germline stem cells (GSCs), a primary cell line with SSC activity. Remarkably, GSC-like cells (GSCLCs), but not PGCLCs, colonize adult testes and, albeit less effectively than GSCs, contribute to spermatogenesis and fertile offspring...
December 6, 2016: Cell Reports
https://www.readbyqxmd.com/read/27926867/genomic-instability-is-induced-by-persistent-proliferation-of-cells-undergoing-epithelial-to-mesenchymal-transition
#11
Valentine Comaills, Lilian Kabeche, Robert Morris, Rémi Buisson, Min Yu, Marissa Wells Madden, Joseph A LiCausi, Myriam Boukhali, Ken Tajima, Shiwei Pan, Nicola Aceto, Srinjoy Sil, Yu Zheng, Tilak Sundaresan, Toshifumi Yae, Nicole Vincent Jordan, David T Miyamoto, David T Ting, Sridhar Ramaswamy, Wilhelm Haas, Lee Zou, Daniel A Haber, Shyamala Maheswaran
TGF-β secreted by tumor stroma induces epithelial-to-mesenchymal transition (EMT) in cancer cells, a reversible phenotype linked to cancer progression and drug resistance. However, exposure to stromal signals may also lead to heritable changes in cancer cells, which are poorly understood. We show that epithelial cells failing to undergo proliferation arrest during TGF-β-induced EMT sustain mitotic abnormalities due to failed cytokinesis, resulting in aneuploidy. This genomic instability is associated with the suppression of multiple nuclear envelope proteins implicated in mitotic regulation and is phenocopied by modulating the expression of LaminB1...
December 6, 2016: Cell Reports
https://www.readbyqxmd.com/read/27926866/inflammation-induced-oxidative-stress-mediates-gene-fusion-formation-in-prostate-cancer
#12
Ram S Mani, Mohammad A Amin, Xiangyi Li, Shanker Kalyana-Sundaram, Brendan A Veeneman, Lei Wang, Aparna Ghosh, Adam Aslam, Susmita G Ramanand, Bradley J Rabquer, Wataru Kimura, Maxwell Tran, Xuhong Cao, Sameek Roychowdhury, Saravana M Dhanasekaran, Nallasivam Palanisamy, Hesham A Sadek, Payal Kapur, Alisa E Koch, Arul M Chinnaiyan
Approximately 50% of prostate cancers are associated with gene fusions of the androgen-regulated gene TMPRSS2 to the oncogenic erythroblast transformation-specific (ETS) transcription factor ERG. The three-dimensional proximity of TMPRSS2 and ERG genes, in combination with DNA breaks, facilitates the formation of TMPRSS2-ERG gene fusions. However, the origins of DNA breaks that underlie gene fusion formation in prostate cancers are far from clear. We demonstrate a role for inflammation-induced oxidative stress in the formation of DNA breaks leading to recurrent TMPRSS2-ERG gene fusions...
December 6, 2016: Cell Reports
https://www.readbyqxmd.com/read/27926823/aliidiomarina-soli-sp-nov-isolated-from-saline-alkaline-soil
#13
Lian Xu, Ji-Quan Sun, Li-Juan Wang, Xiao-Zhen Liu, Yin-Yao Ji, Zhong-Qiu Shao, Xiao-Lei Wu
A Gram-staining-negative, motile, non-spore-forming bacterium designated strain Y4G10-17T was isolated from the saline-alkali farmland top soil, Inner Mongolia, northern China. Strain Y4G10-17T could grow at 4-45°C (with 30°C as the optimal temperature), pH 6.0-12.0 (optimal at pH 9.0), and in the presence of 1.0-12.0 % (w/v) NaCl (optimal at 4.0-6.0 %). Phylogenetic analysis based on the eight different copies of the 16S rRNA gene sequences revealed that strain Y4G10-17T shared the highest sequence similarities with Aliidiomarina maris CF12-14T, 97...
December 7, 2016: International Journal of Systematic and Evolutionary Microbiology
https://www.readbyqxmd.com/read/27926821/algoriphagus-aestuariicola-sp-nov-isolated-from-estuary-sediment
#14
Xiaomeng Jia, Baolei Jia, Kyung Hyun Kim, Che Ok Jeon
A Gram-staining-negative and strictly aerobic bacterium, designated strain S2-A1T, was isolated from estuary sediment in South Korea. Cells of strain S2-A1T were oxidase- and catalase-positive rods without a gliding motility. Growth was observed at 15-40 °C (optimum, 37 °C), at pH 6.0-10.0 (optimum, pH 7.0-7.5) and in the presence of 0-4.0 % (w/v) NaCl (optimum, 0.5-1.0 %). The sole respiratory quinone was MK-7. Iso-C15:0, summed feature 3 (comprising C16:1 ω7c/C16:1 ω6c) and summed feature 9 (comprising iso-C17:1 ω9c/C16:0 10-methyl) were found as the major fatty acids (>5 % of the total fatty acids)...
December 7, 2016: International Journal of Systematic and Evolutionary Microbiology
https://www.readbyqxmd.com/read/27926817/description-of-immundisolibacter-cernigliae-gen-nov-sp-nov-a-high-molecular-weight-polycyclic-aromatic-hydrocarbon-degrading-bacterium-within-the-class-gammaproteobacteria-and-proposal-of-immundisolibacterales-ord-nov-and-immundisolibacteraceae-fam-nov
#15
Elizabeth M Corteselli, Michael D Aitken, David R Singleton
The bacterial strain TR3.2T was isolated from aerobic bioreactor-treated soil from a polycyclic aromatic hydrocarbon (PAH)-contaminated site in Salisbury, North Carolina, USA. Strain TR3.2T was identified as a member of "Pyrene Group 2" or "PG2", a previously uncultivated cluster of organisms associated with the degradation of high-molecular-weight PAHs by stable-isotope probing. Based on its 16S rRNA gene sequence the strain was classified as a member of the class Gammaproteobacteria but possessed only 90...
December 7, 2016: International Journal of Systematic and Evolutionary Microbiology
https://www.readbyqxmd.com/read/27926794/metastatic-type-a-thymoma-morphologic-and-genetic-correlation
#16
Tobias Bürger, Inga-Marie Schaefer, Stefan Küffer, Hanibal Bohnenberger, Kirsten Reuter-Jessen, John Kwok-Cheung Chan, Alexander Emmert, Marc Hinterthaner, Alexander Marx, Philipp Ströbel
INTRODUCTION: The vast majority of type A thymomas are diagnosed in tumor stage 1 or 2, and metastatic cases are exceedingly rare. The histological and genetic features of such metastatic type A thymomas have not been described in detail. METHODS: Five metastatic type A thymomas in tumor stage Masaoka IVb that had been reviewed by a panel of expert pathologists were analyzed using comparative genomic hybridization (CGH). All cases had metastasized to the lungs. RESULTS: Cases #1, 2 and 3 showed the prototypic morphology of type A thymomas with mostly solid growth patterns...
December 7, 2016: Histopathology
https://www.readbyqxmd.com/read/27926792/the-transcription-factor-pparalpha-is-overexpressed-and-is-associated-with-a-favourable-prognosis-in-idh-wildtype-primary-glioblastoma
#17
H R Haynes, P White, K M Hares, J Redondo, K C Kemp, W G B Singleton, C L Killick-Cole, J R Stevens, K Garadi, S Guglani, A Wilkins, K M Kurian
AIMS: PPARα agonists are in current clinical use as hypolipidaemic agents and show significant antineoplastic effects in human glioblastoma models. To date however, the expression of PPARα in large-scale glioblastoma data sets has not been examined. We aimed to investigate the expression of the transcription factor PPARα in primary glioblastoma, the relationship between PPARα expression and patients' clinicopathological features and other molecular markers associated with gliomagenesis...
December 7, 2016: Histopathology
https://www.readbyqxmd.com/read/27926742/modeling-deficits-from-early-auditory-information-processing-to-psychosocial-functioning-in-schizophrenia
#18
Michael L Thomas, Michael F Green, Gerhard Hellemann, Catherine A Sugar, Melissa Tarasenko, Monica E Calkins, Tiffany A Greenwood, Raquel E Gur, Ruben C Gur, Laura C Lazzeroni, Keith H Nuechterlein, Allen D Radant, Larry J Seidman, Alexandra L Shiluk, Larry J Siever, Jeremy M Silverman, Joyce Sprock, William S Stone, Neal R Swerdlow, Debby W Tsuang, Ming T Tsuang, Bruce I Turetsky, David L Braff, Gregory A Light
Importance: Neurophysiologic measures of early auditory information processing (EAP) are used as endophenotypes in genomic studies and biomarkers in clinical intervention studies. Research in schizophrenia has established correlations among measures of EAP, cognition, clinical symptoms, and functional outcome. Clarifying these associations by determining the pathways through which deficits in EAP affect functioning would suggest when and where to therapeutically intervene. Objectives: To characterize the pathways from EAP to outcome and to estimate the extent to which enhancement of basic information processing might improve cognition and psychosocial functioning in schizophrenia...
December 7, 2016: JAMA Psychiatry
https://www.readbyqxmd.com/read/27926694/involvement-of-activated-cdc42-kinase1-in-colitis-and-colorectal-neoplasms
#19
Chaolan Lv, Hongxiang Gu, Xinmei Zhao, Liyun Huang, Sanxi Zhou, Fachao Zhi
BACKGROUND Activated Cdc42 kinase1 (ACK1) is a non-receptor tyrosine kinase which is critical for cell survival, proliferation, and migration. Genomic amplification of ACK1 has been reported in multiple human cancers. We aimed to investigate ACK1 protein expression in colorectal mucosa with inflammation and neoplasm, and to evaluate its correlation with disease activity and severity. MATERIAL AND METHODS A total of 250 individuals who underwent total colonoscopy were collected randomly from January 2007 to May 2013 in Nanfang Hospital, Guangzhou, China...
December 7, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/27926625/genomic-competencies-for-nursing-practice-implications-for-nursing-leadership
#20
Andrea M Boyd, Anna C Alt-White, Gwen Anderson, Kendra L Schaa, Christine E Kasper
Nurses must have appropriate knowledge and skills to provide safe and effective nursing care in recognition of evolving science. Knowledge of genomics is required to ensure appropriate referral and education of patients who would benefit from genetic services. This article describes the process the Veterans Healthcare Administration's (VHA's) Office of Nursing Services used to determine the nursing genomic competencies appropriate for VHA nurses and identify available resources for educating nurses on these nursing competencies and a strategic plan for long-term implementation...
January 2017: Journal of Nursing Administration
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