Genetics gene | Page 2

P R B Nogara, A L Godoy-Santos, F C P Fonseca, C Cesar-Netto, K C Carvalho, E C Baracat, N Maffulli, P A Pontin, M C L Santos
Posterior tibial tendon (PTT) dysfunction is three times more common in females, and some patients may have a predisposition without a clinically evident cause, suggesting that individual characteristics play an important role in tendinopathy. The present study investigated the association of rs4986938 (+ 1730G > A; AluI RFLP) and rs1256049 (- 1082G > A; RsaI RFLP) single nucleotide polymorphisms (SNPs) of estrogen receptor-beta (ER-β) gene with PTT dysfunction. A total of 400 participants were recruited...
May 30, 2020: Molecular and Cellular Biochemistry
Syed Saad Hussain, Shaheen Faizi, Kinza Rafi, Shabana U Simjee
P53 plays an important role in maintaining genetic stability and development of resistance against tumors. Dysregulation of P53 gene is one of the key factors contributing to the etiology of neuroblastoma which causes cells to evade apoptosis. Activating P53 pathway can be a therapeutic alternative to the currently available medicinal strategies. Mannich bases have been known to possess various biological activities including the anticancer activity. In this study, we have targeted the P53 pathway by novel Mannich base (3FB3FA8H) which can be a future prospect to cure neuroblastoma...
May 29, 2020: Molecular and Cellular Biochemistry
Mohsen Maleknia, Saeid Shahrabi, Majid Ghanavat, Tina Vosoughi, Najmaldin Saki
Essential thrombocythemia (ET) is a classical myeloproliferative neoplasm that is susceptible to hypercoagulable state due to impaired hemostatic system, so that thrombotic complications are the leading cause of mortality in ET patients. The content used in this article has been obtained by the PubMed database and Google Scholar search engine from English-language articles (2000-2019) using the following keywords: "Essential thrombocythemia," "Thrombosis," "Risk factors" and "Hemostasis...
May 30, 2020: Molecular Biology Reports
Qiuping Li, Li Lu, Haiyang Liu, Xufeng Bai, Xin Zhou, Bi Wu, Mengqi Yuan, Lin Yang, Yongzhong Xing
SG3, an R2R3 MYB protein coding gene that tightly linked to a major QTLGS3, negatively regulates grain length while dependent on the status ofGS3in rice. It is often very difficult to isolate a minor QTL that is closely linked to a major QTL in rice. In this study, we focused on the isolation of a minor grain length QTL, small grain 3 (SG3), which is closely linked to the major QTL grain size 3 (GS3). The genetic effect of SG3 on grain length was dependent on GS3 status. Its genetic effect was larger in the presence of nonfunctional sg3 than functional SG3...
May 29, 2020: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
Anika Bongaarts, Jody M de Jong, Diede W M Broekaart, Jackelien van Scheppingen, Jasper J Anink, Caroline Mijnsbergen, Floor E Jansen, Wim G M Spliet, Wilfred F A den Dunnen, Victoria E Gruber, Theresa Scholl, Johannes A Hainfellner, Martha Feucht, Julita Borkowska, Katarzyna Kotulska, Sergiusz Jozwiak, Wieslawa Grajkowska, Anna Maria Buccoliero, Chiara Caporalini, Flavio Giordano, Lorenzo Genitori, Brendon P Scicluna, Antoinette Y N Schouten-van Meeteren, Erwin A van Vliet, Angelika Mühlebner, James D Mills, Eleonora Aronica
Tuberous sclerosis complex (TSC), a rare genetic disorder caused by a mutation in the TSC1 or TSC2 gene, is characterized by the growth of hamartomas in several organs. This includes the growth of low-grade brain tumors, known as subependymal giant cell astrocytomas (SEGA). Previous studies have shown differential expression of genes related to the extracellular matrix in SEGA. Matrix metalloproteinases (MMPs), and their tissue inhibitors (TIMPs) are responsible for remodeling the extracellular matrix and are associated with tumorigenesis...
May 29, 2020: Journal of Neuropathology and Experimental Neurology
Michele Carbone, Sarah T Arron, Bruce Beutler, Angela Bononi, Webster Cavenee, James E Cleaver, Carlo M Croce, Alan D'Andrea, William D Foulkes, Giovanni Gaudino, Joanna L Groden, Elizabeth P Henske, Ian D Hickson, Paul M Hwang, Richard D Kolodner, Tak W Mak, David Malkin, Raymond J Monnat, Flavia Novelli, Harvey I Pass, John H Petrini, Laura S Schmidt, Haining Yang
Cell division and organismal development are exquisitely orchestrated and regulated processes. The dysregulation of the molecular mechanisms underlying these processes may cause cancer, a consequence of cell-intrinsic and/or cell-extrinsic events. Cellular DNA can be damaged by spontaneous hydrolysis, reactive oxygen species, aberrant cellular metabolism or other perturbations that cause DNA damage. Moreover, several environmental factors may damage the DNA, alter cellular metabolism or affect the ability of cells to interact with their microenvironment...
May 29, 2020: Nature Reviews. Cancer
Karen M Kapheim, Beryl M Jones, Hailin Pan, Cai Li, Brock A Harpur, Clement F Kent, Amro Zayed, Panagiotis Ioannidis, Robert M Waterhouse, Callum Kingwell, Eckart Stolle, Arián Avalos, Guojie Zhang, W Owen McMillan, William T Wcislo
Developmental plasticity generates phenotypic variation, but how it contributes to evolutionary change is unclear. Phenotypes of individuals in caste-based (eusocial) societies are particularly sensitive to developmental processes, and the evolutionary origins of eusociality may be rooted in developmental plasticity of ancestral forms. We used an integrative genomics approach to evaluate the relationships among developmental plasticity, molecular evolution, and social behavior in a bee species ( Megalopta genalis ) that expresses flexible sociality, and thus provides a window into the factors that may have been important at the evolutionary origins of eusociality...
May 29, 2020: Proceedings of the National Academy of Sciences of the United States of America
Mingmin Zheng, Tian Yang, Xiaowei Liu, Guihua Lü, Peng Zhang, Bin Jiang, Shufeng Zhou, Yanli Lu, Hai Lan, Shuzhi Zhang, Chuan Li, Tingzhao Rong, Moju Cao
C-type cytoplasmic male sterility (CMS-C), one of the three major CMS types in maize, has a promising application prospect in hybrid seed production. However, the complex genetic mechanism underlying the fertility restoration of CMS-C remains poorly understood. The maize inbred line A619 is one of the rare strong restorer lines carrying the restorer gene Rf4 , but different fertility segregation ratios are found in several F2 populations derived from crosses between isocytoplasmic allonucleus CMS-C lines and A619...
May 29, 2020: G3: Genes—Genomes—Genetics
Michelle O' Connor, Des Field, Aoife Grainger, Paula M O' Connor, Lorraine Draper, R Paul Ross, Colin Hill
Nisin A is a potent antimicrobial with potential as an alternative to traditional antibiotics, and a number of genetically modified variants have been created that target clinically relevant pathogens. In addition to antimicrobial activity, nisin auto-regulates its own production via a signal transduction pathway, a property that has been exploited in a protein expression system termed the Nisin Controlled Gene Expression (NICE) system. Although NICE has become one of the most popular protein expression systems, one drawback is that the inducer peptide, nisin A, also has inhibitory activity...
May 29, 2020: Applied and Environmental Microbiology
Maitane Tello, Medelin Ocejo, Beatriz Oporto, Ana Hurtado
In order to estimate herd-level prevalence of ESBL-/AmpC- and carbapenemase-producing commensal Escherichia coli in ruminants in the Basque Country (Northern Spain), a cross-sectional survey was conducted in 2014-2016 in 300 herds using selective isolation. ESBL-/AmpC-producing E. coli were isolated in 32.9% of dairy cattle herds, 9.6% of beef cattle herds and 7.0% of sheep flocks. No carbapenemase-producing E. coli were isolated. Phenotypic antimicrobial susceptibility determined by broth microdilution using EUCAST epidemiological cut-off values identified widespread co-resistance to extended spectrum cephalosporins and other antimicrobials (110/135 isolates), particularly tetracycline, sulfamethoxazole, trimethoprim, and ciprofloxacin...
May 29, 2020: Applied and Environmental Microbiology
Vida Časaitė, Rūta Stanislauskienė, Justas Vaitekūnas, Daiva Tauraitė, Rasa Rutkienė, Renata Gasparavičiūtė, Rolandas Meškys
Pyridine and its derivatives constitute majority of heterocyclic aromatic compounds that occur largely as a result of human activities and contribute to the environmental pollution. It is known, that they can be degraded by various bacteria in the environment, however, the degradation of unsubstituted pyridine has not yet been completely resolved. In this study we present data on the pyridine catabolic pathway in Arthrobacter sp. 68b at the level of genes, enzymes and metabolites. The pyr genes cluster, responsible for degradation of pyridine, was identified in a catabolic plasmid p2MP...
May 29, 2020: Applied and Environmental Microbiology
Julie A Mund, Su-Jung Park, Abbi E Smith, Yongzheng He, Li Jiang, Eric Hawley, Michelle J Roberson, Dana K Mitchell, Mohannad Abu-Sultanah, Jin Yuan, Waylan K Bessler, George Sandusky, Shi Chen, Chi Zhang, Steven D Rhodes, D Wade Clapp
Neurofibromatosis type 1 (NF1) is a common cancer predisposition syndrome caused by mutations in the NF1 tumor suppressor gene. NF1 encodes neurofibromin, a GTPase-activating protein (GAP) for RAS proto-oncogene GTPase (RAS). Plexiform neurofibromas (PNs) are a hallmark of NF1 and result from loss of heterozygosity of NF1 in Schwann cells, leading to constitutively activated p21RAS. Given the inability to target p21RAS directly, here we performed an shRNA library screen of all human kinases and Rho-GTPases in a patient-derived NF1-/- Schwann cell line to identify novel therapeutic targets to disrupt PN formation and progression...
May 29, 2020: Journal of Biological Chemistry
Sonali Das, Anindyajit Banerjee, Mohd Kamran, Sarfaraz Ahmad Ejazi, Mohammad Asad, Nahid Ali, Saikat Chakrabarti
Emergence of resistance to available anti-leishmanial drugs advocates identification of new drug targets and their inhibitors for visceral leishmaniasis. Here, we identified heat shock protein 78 in Leishmania donovani (LdHSP78), a putative ClpB protease, as important for parasite infection of host macrophages and a potential therapeutic target. Enrichment of LdHSP78 in infected humans, hamsters and parasite amastigotes suggested its importance for disease persistence. Heterozygous knockouts of L. donovani ( LdHSP78+/- ) and L...
May 29, 2020: Journal of Biological Chemistry
Barry P Young, Kathryn L Post, Jesse T Chao, Fabian Meili, Kurt Haas, Christopher J R Loewen
Advances in sequencing technology have led to an explosion in the number of known genetic variants of human genes. A major challenge is to now determine which of these variants contribute to diseases as a result of their effect on gene function. Here we describe a generic approach using the yeast Saccharomyces cerevisiae to quickly develop gene-specific in vivo assays that can be used to quantify the level of function of a genetic variant. Using Synthetic Dosage Lethality screening, "sentinel" yeast strains are identified that are sensitive to overexpression of a human disease gene...
May 29, 2020: Disease Models & Mechanisms
Caroline Bosson, John Rendu, Laurent Pelletier, Amandine Abriat, Amandine Chatagnon, Julie Brocard, Jacques Brocard, Dominique Figarella-Branger, Sylvie Ducreux, Fabien van Coppenolle, Emmanuel Sagui, Isabelle Marty, Nathalie Roux-Buisson, Julien Faure
OBJECTIVES: Exertional Heat Stroke (EHS) is one of the top three causes of sudden death in athletes. Extrinsic and intrinsic risk factors have been identified but the genetic causes still remain unclear. Our aim was to identify genes responsible for EHS, which is a necessary step to identify patients at risk and prevent crises. DESIGN: Genetic and functional laboratory studies METHODS: Whole Exome Sequencing (WES) was performed to search for candidate genes in a cohort of 15 soldiers who had a documented EHS episode...
May 18, 2020: Journal of Science and Medicine in Sport
Ninad Oak, Andrew D Cherniack, R Jay Mashl, Fred R Hirsch, Li Ding, Rameen Beroukhim, Zeynep H Gümüş, Sharon E Plon, Kuan-Lin Huang
BACKGROUND: Distinct prevalence of inherited genetic predisposition may partially explain the difference of cancer risks across ancestries. Ancestry-specific analyses of germline genomes are required to inform cancer genetic risk and prognosis of diverse populations. METHODS: We conducted analyses using germline and somatic sequencing data generated by The Cancer Genome Atlas. Collapsing pathogenic and likely pathogenic variants to cancer predisposition genes (CPG), we analyzed the association between CPGs and cancer types within ancestral groups...
May 29, 2020: Genome Medicine
Sandra Dimonte, Ellen I Bruske, Corinna Enderes, Thomas D Otto, Louise Turner, Peter Kremsner, Matthias Frank
BACKGROUND: The multicopy var gene family of Plasmodium falciparum is of crucial importance for pathogenesis and antigenic variation. So far only var2csa, the var gene responsible for placental malaria, was found to be highly conserved among all P. falciparum strains. Here, a new conserved 3D7 var gene (PF3D7_0617400) is identified in several field isolates. METHODS: DNA sequencing, transcriptional analysis, Cluster of Differentiation (CD) 36-receptor binding, indirect immunofluorescence with PF3D7_0617400-antibodies and quantification of surface reactivity against semi-immune sera were used to characterize an NF54 clone and a Gabonese field isolate clone (MOA C3) transcribing the gene...
May 29, 2020: Malaria Journal
Yin Yang, Lian-Qun Wang, Bo-Chen Yao, Zhi-Gang Guo
BACKGROUND: Aortic stenosis is a common heart valvular disease whose pathological processes include an inflammatory reaction and lipid accumulation. However, its detailed pathogenesis is yet to be completely elucidated. Therefore, it is of great significance to further explore the molecular mechanisms of aortic stenosis. METHODS: Four datasets were downloaded from the Gene Expression Omnibus (GEO) database. Firstly, the differently expressed genes (DEGs) were screened between control and aortic stenosis samples...
May 29, 2020: Lipids in Health and Disease
Yoo-Ah Kim, Damian Wojtowicz, Rebecca Sarto Basso, Itay Sason, Welles Robinson, Dorit S Hochbaum, Mark D M Leiserson, Roded Sharan, Fabio Vadin, Teresa M Przytycka
BACKGROUND: Studies of cancer mutations have typically focused on identifying cancer driving mutations that confer growth advantage to cancer cells. However, cancer genomes accumulate a large number of passenger somatic mutations resulting from various endogenous and exogenous causes, including normal DNA damage and repair processes or cancer-related aberrations of DNA maintenance machinery as well as mutations triggered by carcinogenic exposures. Different mutagenic processes often produce characteristic mutational patterns called mutational signatures...
May 29, 2020: Genome Medicine
Shih-Ping Dai, Wei-Shan Hsieh, Chien-Hua Chen, Yueh-Hao Lu, Hsu-Shan Huang, Der-Ming Chang, Shir-Ly Huang, Wei-Hsin Sun
BACKGROUND: The autoimmune disease rheumatoid arthritis (RA) affects approximately 1% of the global population. RA is characterized with chronic joint inflammation and often associated with chronic pain. The imbalance of pro-inflammatory and anti-inflammatory macrophages is a feature of RA progression. Glial cells affecting neuronal sensitivity at both peripheral and central levels may also be important for RA progression and associated pain. Genetic variants in the T cell death-associated gene 8 (TDAG8) locus are found to associate with spondyloarthritis...
May 29, 2020: Journal of Neuroinflammation
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