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https://www.readbyqxmd.com/read/28449558/in-silicomodel-driven-assessment-of-the-effects-of-brain-derived-neurotrophic-factor-deficiency-on-glutamate-and-gamma-aminobutyric-acid-implications-for-understanding-schizophrenia-pathophysiology
#1
Rimjhim Agrawal, Sunil Vasu Kalmady, Ganesan Venkatasubramanian
Objective: Deficient brain-derived neurotrophic factor (BDNF) is one of the important mechanisms underlying the neuroplasticity abnormalities in schizophrenia. Aberration in BDNF signaling pathways directly or circuitously influences neurotransmitters like glutamate and gamma-aminobutyric acid (GABA). For the first time, this study attempts to construct and simulate the BDNF-neurotransmitter network in order to assess the effects of BDNF deficiency on glutamate and GABA. Methods: Using CellDesigner, we modeled BDNF interactions with calcium influx via N-methyl-D-aspartate receptor (NMDAR)- Calmodulin activation; synthesis of GABA via cell cycle regulators protein kinase B, glycogen synthase kinase and β-catenin; transportation of glutamate and GABA...
May 31, 2017: Clinical Psychopharmacology and Neuroscience: the Official Scientific Journal of the Korean College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28447549/a-child-with-severe-iron-deficiency-anemia-and-a-complex-tmprss6-genotype
#2
Anna Paola Capra, Elisa Ferro, Laura Cannavò, Maria Angela La Rosa, Giuseppina Zirilli
OBJECTIVES: We report a case of a 7-year-old girl with severe hypochromic microcytic anemia, who was unresponsive to classical iron supplements. We suspected IRIDA, iron-refractory iron-deficiency anemia, a genetic iron metabolism disorder, caused by TMPRSS6 variations. TMPRSS6 encodes matriptase-2, a negative regulator of hepcidin, and its pathological variants are related to normal to high levels of hepcidin. We analyzed the TMPRSS6 gene and we improved clinical management of the patient, selecting the appropriate supplementation therapy...
April 27, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28446912/temporal-and-spatial-variability-of-fungal-structures-and-host-responses-in-an-incompatible-rust-wheat-interaction
#3
Chris K Sørensen, Rodrigo Labouriau, Mogens S Hovmøller
Information about temporal and spatial variability of fungal structures and host responses is scarce in comparison to the vast amount of genetic, biochemical, and physiological studies of host-pathogen interactions. In this study, we used avirulent wild type and virulent mutant isolates of Puccinia striiformis to characterize the interactions in wheat carrying yellow rust Yr2 resistance. Both conventional and advanced microscopic techniques were used for a detailed study of morphology and growth of fungal colonies and associated host cell responses...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28446873/novel-vps13a-gene-mutations-identified-in-patients-diagnosed-with-chorea-acanthocytosis-chac-case-presentation-and-literature-review
#4
Yan Shen, Xiaoming Liu, Xi Long, Chao Han, Fang Wan, Wenliang Fan, Xingfang Guo, Kai Ma, Shiyi Guo, Luxi Wang, Yun Xia, Ling Liu, Jinsha Huang, Zhicheng Lin, Nian Xiong, Tao Wang
Chorea-acanthocytosis (ChAc) is a rare autosomal recessive inherited syndrome characterized by hyperkinetic movements, seizures, cognitive impairment, neuropsychiatric symptoms, elevated serum biochemical indicators and acanthocytes detection in peripheral blood smear. Vacuolar protein sorting 13A (VPS13A) gene mutations have been proven to be genetically responsible for the pathogenesis of ChAc. Herein, based on the typical clinical symptoms and neuroimaging features, we present two suspected ChAc cases which are further genetically confirmed by four novel VPS13A gene mutations...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28446202/analyzing-the-genes-related-to-alzheimer-s-disease-via-a-network-and-pathway-based-approach
#5
Yan-Shi Hu, Juncai Xin, Ying Hu, Lei Zhang, Ju Wang
BACKGROUND: Our understanding of the molecular mechanisms underlying Alzheimer's disease (AD) remains incomplete. Previous studies have revealed that genetic factors provide a significant contribution to the pathogenesis and development of AD. In the past years, numerous genes implicated in this disease have been identified via genetic association studies on candidate genes or at the genome-wide level. However, in many cases, the roles of these genes and their interactions in AD are still unclear...
April 27, 2017: Alzheimer's Research & Therapy
https://www.readbyqxmd.com/read/28445628/characterization-of-four-latin-american-families-confirms-previous-findings-and-reveals-novel-features-of-acid-labile-subunit-als-deficiency
#6
Paula A Scaglia, Ana C Keselman, Débora Braslavsky, Lucía C Martucci, Liliana M Karabatas, Sabina Domené, Mariana L Gutiérrez, María G Ballerini, María G Ropelato, Angela Spinola-Castro, Adriana A Siviero-Miachon, Juliana Saito Tartuci, Sol Rodríguez Azrak, Rodolfo A Rey, Héctor G Jasper, Ignacio Bergadá, Horacio M Domené
OBJECTIVE: ALS deficiency (ACLSD), caused by inactivating mutations in both IGFALS gene alleles, is characterized by marked reduction of IGF-I and IGFBP-3 levels associated to mild growth retardation. The aim of this study was to expand the known phenotype and genetic characteristics of ACLSD by reporting data from four index cases and their families. DESIGN: Auxological data, biochemical and genetic studies were performed in four children diagnosed with ACLSD and all available relatives...
April 26, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28445403/detection-of-hepatitis-b-virus-m204i-mutation-by-quantum-dot-labeled-dna-probe
#7
Cheng Zhang, Yiping Chen, Xinmiao Liang, Guanhua Zhang, Hong Ma, Leng Nie, Yu Wang
Quantum dots (QDs) are semiconductor nanoparticles with a diameter of less than 10 nm, which have been widely used as fluorescent probes in biochemical analysis and vivo imaging because of their excellent optical properties. Sensitive and convenient detection of hepatitis B virus (HBV) gene mutations is important in clinical diagnosis. Therefore, we developed a sensitive, low-cost and convenient QDs-mediated fluorescent method for the detection of HBV gene mutations in real serum samples from chronic hepatitis B (CHB) patients who had received lamivudine or telbivudine antiviral therapy...
April 26, 2017: Sensors
https://www.readbyqxmd.com/read/28444797/the-transcription-factor-myb115-contributes-to-the-regulation-of-proanthocyanidin-biosynthesis-and-enhances-fungal-resistance-in-poplar
#8
Lijun Wang, Lingyu Ran, Yisu Hou, Qiaoyan Tian, Chaofeng Li, Rui Liu, Di Fan, Keming Luo
Proanthocyanidins (PAs) are major defense phenolic compounds in the leaves of poplar (Populus spp.) in response to abiotic and biotic stresses. Transcriptional regulation of PA biosynthetic genes by the MYB-basic helix-loop-helix (bHLH)-WD40 complexes in poplar is not still fully understood. Here, an Arabidopsis TT2-like gene MYB115 was isolated from Populus tomentosa and characterized by various molecular, genetic and biochemical approaches. MYB115 restored PA productions in the seed coat of the Arabidopsis tt2 mutant...
April 26, 2017: New Phytologist
https://www.readbyqxmd.com/read/28444650/-newborn-screening-on-cystic-fibrosis-in-germany-comparison-of-the-new-screening-protocol-with-an-alternative-protocol
#9
Olaf Sommerburg, Mirjam Stahl, Jutta Hammermann, Jürgen G Okun, Andreas Kulozik, Georg Hoffmann, Marcus Mall
Background For the new cystic fibrosis (CF) newborn screening program in Germany the Federal Joint Committee (G-BA) implemented a new screening protocol using immunoreactive trypsinogen (IRT) as first and pancreatitis associated protein (PAP) as second tier. Gene analysis with a panel of 31 CFTR-mutations is used as third tier to increase the positive predictive value (PPV) which is known to be low in pure biochemical IRT/PAP protocols. Methods For post hoc analysis the data pool (n=372 906) of a study evaluating a pure biochemical IRT/PAP protocol was used for assessment of the 3-step G-BA protocol in comparison with an alternative screening protocol recommended by the authors...
March 2017: Klinische Pädiatrie
https://www.readbyqxmd.com/read/28444412/biochemical-and-genetic-analyses-of-n-metabolism-in-maize-testcross-seedlings-1-leaves
#10
Ignacio Trucillo Silva, Hari Kishan R Abbaraju, Lynne P Fallis, Hongjun Liu, Michael Lee, Kanwarpal S Dhugga
Aside from the identification of 32 QTL for N metabolism in the seedling leaves of a maize testcross population, alanine aminotransferase was found to be a central enzyme in N assimilation. Excessive application of nitrogen (N) fertilizer to grow commercial crops like maize is a cause of concern because of the runoff of excess N into streams and rivers. Breeding maize with improved N use efficiency (NUE) would reduce environmental pollution as well as input costs for the farmers. An understanding of the genetics underlying N metabolism is key to breeding for NUE...
April 25, 2017: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/28443701/evaluation-of-dietary-intake-leisure-time-physical-activity-and-metabolic-profile-in-women-with-mutation-in-the-lmna-gene
#11
Luciana Monteiro, Maria Cristina Foss-Freitas, Anderson Navarro, Francisco Pereira, Fernanda Coeli, Estela Carneseca, Renan Montenegro Júnior, Milton Foss
INTRODUCTION: Familial partial lipodystrophy (FPL) is a rare genetic disorder characterized by selective lack of subcutaneous fat, which is associated with insulin-resistant diabetes. The Dunnigan variety (FPLD2) is caused by several missense mutations in the lamin A/C (LMNA) gene, most of which are typically located in exon 8 at the codon position 482. OBJECTIVE: The aim of this study was to assess and compare the dietary intake, leisure-time physical activity (LTPA), and biochemical measurements (glucose, A1C, and plasma lipids) in women with FPLD2 and without (control group, CG) and to examine the associations between dietary intake and biochemical measurements (BM)...
April 26, 2017: Journal of the American College of Nutrition
https://www.readbyqxmd.com/read/28443253/bone-modeling-remodeling-and-skeletal-health-in-children-and-adolescents-mineral-accrual-assessment-and-treatment
#12
REVIEW
Chiara Maggioli, Stefano Stagi
The modeling and remodeling process of the bone is fundamental to maintaining its integrity and mechanical properties. Many physical and biochemical factors during childhood and adolescence are crucially important for the development of healthy bones. Systemic conditions, such as hormonal status, nutrition, physical inactivity, or many pharmacological treatments, as well as a local variation in the load, can influence bone turnover and, consequently, the attainment of a proper peak bone mass. However, many diseases affecting children and adolescents can be associated with a reduction in bone accrual or a loss of bone mass and quality, which leads to an increased risk of fracture over one's life...
March 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28442992/genetic-deletion-of-akt3-induces-an-endophenotype-reminiscent-of-psychiatric-manifestations-in-mice
#13
Yan Bergeron, Geneviève Bureau, Marie-Élaine Laurier-Laurin, Eric Asselin, Guy Massicotte, Michel Cyr
The protein kinase B (PKB/Akt), found in three distinctive isoforms (PKBα/Akt1, PKBβ/Akt2, PKBγ/Akt3), is implicated in a variety of cellular processes such as cell development, growth and survival. Although Akt3 is the most expressed isoform in the brain, its role in cerebral functions is still unclear. In the present study, we investigated the behavioral, electrophysiological and biochemical consequences of Akt3 deletion in mice. Motor abilities, spatial navigation, recognition memory and LTP are intact in the Akt3 knockout (KO) mice...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28442515/genetic-polymorphisms-rs699947-rs1570360-and-rs3025039-on-the-vegf-gene-are-correlated-with-extracranial-internal-carotid-artery-stenosis-and-ischemic-stroke
#14
Binod Kumar Yadav, Renu Yadav, Hyuk Chang, Kangho Choi, Joon-Tae Kim, Man Seok Park, Hyun Goo Kang, Insung Choo, Seong Hwan Ahn, Dong Seok Oh, Yeon Soo Ha, Ihngyu Kim, Man-Wook Seo, Byoung-Soo Shin
Extracranial internal carotid artery (ECICA) stenosis is a modifiable risk factor of ischemic stroke. VEGF plays a crucial role in the maintenance of endothelial integrity and physiological function. This study was designed to assess the correlations of VEGF polymorphisms with ECICA stenosis in ischemic stroke and to explore the relationships between these polymorphisms and different biochemical parameters. This study included a total of 650 ischemic stroke patients, 232 with ECICA stenosis while 418 had no ECICA stenosis as assessed by magnetic resonance angiography...
March 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28442501/chlorokb-a-web-application-for-the-integration-of-knowledge-related-to-chloroplast-metabolic-network
#15
Pauline Gloaguen, Sylvain Bournais, Claude Alban, Stephane Ravanel, Daphne Seigneurin-Berny, Michel Matringe, Marianne Tardif, Marcel Kuntz, Myriam Ferro, Christophe Bruley, Norbert Rolland, Yves Vandenbrouck, Gilles Curien
CONTEXT: Higher plants, as autotrophic organisms, are effective sources of molecules. They hold great promise for metabolic engineering, but the behavior of plant metabolism at the network level is still incompletely described. Although structural models (stoichiometry matrices) and pathway databases are extremely useful, they cannot describe the complexity of the metabolic context and new tools are required to visually represent integrated biocurated knowledge for use by both humans and computers...
April 25, 2017: Plant Physiology
https://www.readbyqxmd.com/read/28439316/epigenetic-assays-for-chemical-biology-and-drug-discovery
#16
REVIEW
Sheraz Gul
The implication of epigenetic abnormalities in many diseases and the approval of a number of compounds that modulate specific epigenetic targets in a therapeutically relevant manner in cancer specifically confirms that some of these targets are druggable by small molecules. Furthermore, a number of compounds are currently in clinical trials for other diseases including cardiovascular, neurological and metabolic disorders. Despite these advances, the approved treatments for cancer only extend progression-free survival for a relatively short time and being associated with significant side effects...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28438458/an-efficient-cumate-inducible-system-for-procyclic-and-bloodstream-form-trypanosoma-brucei
#17
Feng-Jun Li, Zhi-Shen Xu, Htay Mon Aye, Anaïs Brasseur, Zhao-Rong Lun, Kevin S W Tan, Cynthia Y He
In Trypanosoma brucei, the tetracycline-inducible system enables tightly-regulated, highly-efficient expression of recombinant proteins or double-stranded RNA in both procyclic and bloodstream form cells, providing useful molecular genetic tools to study gene functions. An alternative, vanillic acid-inducible system is recently described for procyclic T. brucei, providing ∼18-fold increase in GFP reporter expression upon induction (Sunter JD. Mol Biochem Parasitol. 2016, 207:45-48). Here we describe a cumate-inducible system that allows efficient, tunable gene expression showing >300-fold increase in GFP expression upon induction...
April 21, 2017: Molecular and Biochemical Parasitology
https://www.readbyqxmd.com/read/28438176/the-pink1-p-i368n-mutation-affects-protein-stability-and-ubiquitin-kinase-activity
#18
Maya Ando, Fabienne C Fiesel, Roman Hudec, Thomas R Caulfield, Kotaro Ogaki, Paulina Górka-Skoczylas, Dariusz Koziorowski, Andrzej Friedman, Li Chen, Valina L Dawson, Ted M Dawson, Guojun Bu, Owen A Ross, Zbigniew K Wszolek, Wolfdieter Springer
BACKGROUND: Mutations in PINK1 and PARKIN are the most common causes of recessive early-onset Parkinson's disease (EOPD). Together, the mitochondrial ubiquitin (Ub) kinase PINK1 and the cytosolic E3 Ub ligase PARKIN direct a complex regulated, sequential mitochondrial quality control. Thereby, damaged mitochondria are identified and targeted to degradation in order to prevent their accumulation and eventually cell death. Homozygous or compound heterozygous loss of either gene function disrupts this protective pathway, though at different steps and by distinct mechanisms...
April 24, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/28438095/arcobacter-an-emerging-food-borne-zoonotic-pathogen-its-public-health-concerns-and-advances-in-diagnosis-and-control-a-comprehensive-review
#19
Thadiyam Puram Ramees, Kuldeep Dhama, Kumaragurubaran Karthik, Ramswaroop Singh Rathore, Ashok Kumar, Mani Saminathan, Ruchi Tiwari, Yashpal Singh Malik, Raj Kumar Singh
Arcobacter has emerged as an important food-borne zoonotic pathogen, causing sometimes serious infections in humans and animals. Newer species of Arcobacter are being incessantly emerging (presently 25 species have been identified) with novel information on the evolutionary mechanisms and genetic diversity among different Arcobacter species. These have been reported from chickens, domestic animals (cattle, pigs, sheep, horses, dogs), reptiles (lizards, snakes and chelonians), meat (poultry, pork, goat, lamb, beef, rabbit), vegetables and from humans in different countries...
April 25, 2017: Veterinary Quarterly
https://www.readbyqxmd.com/read/28434876/dual-targeting-small-molecule-inhibitors-of-the-staphylococcus-aureus-fmn-riboswitch-disrupt-riboflavin-homeostasis-in-an-infectious-setting
#20
Hao Wang, Paul A Mann, Li Xiao, Charles Gill, Andrew M Galgoci, John A Howe, Artjohn Villafania, Christopher M Barbieri, Juliana C Malinverni, Xinwei Sher, Todd Mayhood, Megan D McCurry, Nicholas Murgolo, Amy Flattery, Matthias Mack, Terry Roemer
Riboswitches are bacterial-specific, broadly conserved, non-coding RNA structural elements that control gene expression of numerous metabolic pathways and transport functions essential for cell growth. As such, riboswitch inhibitors represent a new class of potential antibacterial agents. Recently, we identified ribocil-C, a highly selective inhibitor of the flavin mononucleotide (FMN) riboswitch that controls expression of de novo riboflavin (RF, vitamin B2) biosynthesis in Escherichia coli. Here, we provide a mechanistic characterization of the antibacterial effects of ribocil-C as well as of roseoflavin (RoF), an antimetabolite analog of RF, among medically significant Gram-positive bacteria, including methicillin-resistant Staphylococcus aureus (MRSA) and Enterococcus faecalis...
April 18, 2017: Cell Chemical Biology
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