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https://www.readbyqxmd.com/read/28738663/statistical-approach-for-atr-ftir-screening-of-semen-in-sexual-evidence
#1
Inês Gregório, Félix Zapata, Mercedes Torre, Carmen García-Ruiz
Genetic identification has revolutionized the Forensic Sciences, especially in sexual aggression cases. For the successful extraction of the genetic information of a criminal, a crucial step is the prior detection of bodily fluids on evidence. In this article, a method for non-destructive screening of semen samples is reported. Using chemometric tools, bodily fluids can be detected and differentiated without damaging the sample, by correlating the infrared spectra of sexual evidence with previously recorded spectra from undamaged stains of individual bodily fluids...
November 1, 2017: Talanta
https://www.readbyqxmd.com/read/28738418/molecular-pathway-to-protection-from-age-dependent-photoreceptor-degeneration-in-mef2-deficiency
#2
Saumya Nagar, Dorit Trudler, Scott R McKercher, Juan Piña-Crespo, Nobuki Nakanishi, Shu-Ichi Okamoto, Stuart A Lipton
Purpose: Photoreceptor degeneration in the retina is a major cause of blindness in humans. Elucidating mechanisms of degenerative and neuroprotective pathways in photoreceptors should afford identification and development of therapeutic strategies. Methods: We used mouse genetic models and improved methods for retinal explant cultures. Retinas were enucleated from Mef2d+/+ and Mef2d-/- mice, stained for MEF2 proteins and outer nuclear layer thickness, and assayed for apoptotic cells...
July 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28738394/the-contribution-of-adult-hippocampal-neurogenesis-to-the-progression-of-psychiatric-disorders
#3
Rachel A Kohman, Justin S Rhodes
New neurons are continuously formed in the adult hippocampus of the human, nonhuman primate, and rodent throughout life though rates of neurogenesis precipitously decline with age to near zero levels at the end of the natural life span. Since its discovery in the 1960s, a large number of studies have documented numerous environmental and genetic factors which regulate adult neurogenesis. Chief among the positive regulators of neurogenesis are exercise and antidepressant drugs. Chief among the negative regulators of neurogenesis besides age are stress and inflammation...
July 24, 2017: Modern Trends in Pharmacopsychiatry
https://www.readbyqxmd.com/read/28738232/molecular-tools-and-emerging-strategies-for-deep-genetic-genomic-refactoring-of-pseudomonas
#4
REVIEW
Esteban Martínez-García, Víctor de Lorenzo
The interest of the genus Pseudomonas largely relies on the virulence of some of its species for plants and animals (including humans). Yet, pathogenic features of some isolates coexist with others often present in environmental variants that promote plant growth and degrade chemical pollutants. Many of these traits can be traced to the intrinsic properties of the genomic chassis of this genus along with distinct genetic parts and devices. With the tools of Synthetic Biology these can be enhanced and/or repurposed for the sake of biological control, environmental remediation and whole-cell biocatalysis...
July 21, 2017: Current Opinion in Biotechnology
https://www.readbyqxmd.com/read/28738217/association-between-an-indel-polymorphism-in-the-3-utr-of-col1a2-and-the-risk-of-sudden-cardiac-death-in-chinese-populations
#5
Zhixia Yin, Yadong Guo, Jianhua Zhang, Qing Zhang, Lijuan Li, Shouyu Wang, Chaoqun Wang, Yan He, Shaohua Zhu, Chengtao Li, Suhua Zhang, Lagabaiyila Zha, Jifeng Cai, Bin Luo, Yuzhen Gao
Sudden cardiac death (SCD) describes the unexpected natural death from a cardiac cause within a short time period. Compelling evidence suggests the involvement of host genetic factors in SCD etiology. Identification of genetic variations predisposed to SCD enables genetic testing that may contribute to SCD diagnosis and risk stratification. Previous studies have suggested that dysregulation of pro-alpha2 chain of type I collagen, encoded by collagen type I alpha 2 chain (COL1A2) gene, was involved in cardiac disorders such as myocardial infarction, hypertrophic cardiomyopathy and atherosclerosis...
July 19, 2017: Legal Medicine
https://www.readbyqxmd.com/read/28738127/early-onset-alzheimer-disease-and-candidate-risk-genes-involved-in-endolysosomal-transport
#6
Brian W Kunkle, Badri N Vardarajan, Adam C Naj, Patrice L Whitehead, Sophie Rolati, Susan Slifer, Regina M Carney, Michael L Cuccaro, Jeffery M Vance, John R Gilbert, Li-San Wang, Lindsay A Farrer, Christiane Reitz, Jonathan L Haines, Gary W Beecham, Eden R Martin, Gerard D Schellenberg, Richard P Mayeux, Margaret A Pericak-Vance
Importance: Mutations in APP, PSEN1, and PSEN2 lead to early-onset Alzheimer disease (EOAD) but account for only approximately 11% of EOAD overall, leaving most of the genetic risk for the most severe form of Alzheimer disease unexplained. This extreme phenotype likely harbors highly penetrant risk variants, making it primed for discovery of novel risk genes and pathways for AD. Objective: To search for rare variants contributing to the risk for EOAD. Design, Setting, and Participants: In this case-control study, whole-exome sequencing (WES) was performed in 51 non-Hispanic white (NHW) patients with EOAD (age at onset <65 years) and 19 Caribbean Hispanic families previously screened as negative for established APP, PSEN1, and PSEN2 causal variants...
July 24, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28738077/consequences-of-severe-habitat-fragmentation-on-density-genetics-and-spatial-capture-recapture-analysis-of-a-small-bear-population
#7
Sean M Murphy, Ben C Augustine, Wade A Ulrey, Joseph M Guthrie, Brian K Scheick, J Walter McCown, John J Cox
Loss and fragmentation of natural habitats caused by human land uses have subdivided several formerly contiguous large carnivore populations into multiple small and often isolated subpopulations, which can reduce genetic variation and lead to precipitous population declines. Substantial habitat loss and fragmentation from urban development and agriculture expansion relegated the Highlands-Glades subpopulation (HGS) of Florida, USA, black bears (Ursus americanus floridanus) to prolonged isolation; increasing human land development is projected to cause ≥ 50% loss of remaining natural habitats occupied by the HGS in coming decades...
2017: PloS One
https://www.readbyqxmd.com/read/28738009/morphological-evaluation-of-clefts-of-the-lip-palate-or-both-in-dogs
#8
Santiago Peralta, Nadine Fiani, Kimi H Kan-Rohrer, Frank J M Verstraete
OBJECTIVE To systematically characterize the morphology of cleft lip, cleft palate, and cleft lip and palate in dogs. ANIMALS 32 client-owned dogs with clefts of the lip (n = 5), palate (23), or both (4) that had undergone a CT or cone-beam CT scan of the head prior to any surgical procedures involving the oral cavity or face. PROCEDURES Dog signalment and skull type were recorded. The anatomic form of each defect was characterized by use of a widely used human oral-cleft classification system on the basis of CT findings and clinical images...
August 2017: American Journal of Veterinary Research
https://www.readbyqxmd.com/read/28737768/arid1a-mutated-ovarian-cancers-depend-on-hdac6%C3%A2-activity
#9
Benjamin G Bitler, Shuai Wu, Pyoung Hwa Park, Yang Hai, Katherine M Aird, Yemin Wang, Yali Zhai, Andrew V Kossenkov, Ana Vara-Ailor, Frank J Rauscher Iii, Weiping Zou, David W Speicher, David G Huntsman, Jose R Conejo-Garcia, Kathleen R Cho, David W Christianson, Rugang Zhang
ARID1A, encoding a subunit of the SWI/SNF chromatin-remodelling complex, is the most frequently mutated epigenetic regulator across all human cancers. ARID1A and TP53 mutations are typically mutually exclusive. Therapeutic approaches that correlate with this genetic characteristic remain to be explored. Here, we show that HDAC6 activity is essential in ARID1A-mutated ovarian cancers. Inhibition of HDAC6 activity using a clinically applicable small-molecule inhibitor significantly improved the survival of mice bearing ARID1A-mutated tumours...
July 24, 2017: Nature Cell Biology
https://www.readbyqxmd.com/read/28737703/autophagy-and-human-neurodegenerative-diseases-a-fly-s-perspective
#10
REVIEW
Myungjin Kim, Allison Ho, Jun Hee Lee
Neurodegenerative diseases in humans are frequently associated with prominent accumulation of toxic protein inclusions and defective organelles. Autophagy is a process of bulk lysosomal degradation that eliminates these harmful substances and maintains the subcellular environmental quality. In support of autophagy's importance in neuronal homeostasis, several genetic mutations that interfere with autophagic processes were found to be associated with familial neurodegenerative disorders. In addition, genetic mutations in autophagy-regulating genes provoked neurodegenerative phenotypes in animal models...
July 23, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28737671/age-related-loss-of-cohesion-causes-and-effects
#11
REVIEW
Jin-Mei Cheng, Yi-Xun Liu
Aneuploidy is a leading genetic cause of birth defects and lower implantation rates in humans. Most errors in chromosome number originate from oocytes. Aneuploidy in oocytes increases with advanced maternal age. Recent studies support the hypothesis that cohesion deterioration with advanced maternal age represents a leading cause of age-related aneuploidy. Cohesin generates cohesion, and is established only during the premeiotic S phase of fetal development without any replenishment throughout a female's period of fertility...
July 22, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28737423/mass-spectrometric-techniques-for-the-analysis-of-volatile-organic-compounds-emitted-from-bacteria
#12
Ileana-Andreea Ratiu, Tomasz Ligor, Victor Bocos-Bintintan, Bogusław Buszewski
Bacteria are the main cause of many human diseases. Typical bacterial identification methods, for example culture-based, serological and genetic methods, are time-consuming, delaying the potential for an early and accurate diagnosis and the appropriate subsequent treatment. Nevertheless, there is a stringent need for in situ tests that are rapid, noninvasive and sensitive, which will greatly facilitate timely treatment of the patients. This review article presents volatile organic metabolites emitted from various micro-organism strains responsible for common bacterial infections in humans...
July 24, 2017: Bioanalysis
https://www.readbyqxmd.com/read/28737238/the-possible-role-of-human-papillomavirus-infection-in-the-development-of-lichen-sclerosus
#13
REVIEW
Anna K Hald, Jan Blaakaer
Lichen sclerosus (LS) is a chronic inflammatory skin disease of unknown origin predominantly affecting the anogenital area that causes pruritus and pain and is associated with an increased risk of malignancy. In some cases, LS vanishes after application of imiquimod, raising the question whether human papillomavirus (HPV) may have an etiopathogenic role in anogenital LS. The databases MEDLINE and Embase were systematically searched using the PRISMA guidelines. Twenty-seven papers were included that reported the prevalence of HPV in LS and in LS associated with neoplasia...
July 24, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28737212/a-genome-wide-association-study-for-equine-recurrent-airway-obstruction-in-european-warmblood-horses-reveals-a-suggestive-new-quantitative-trait-locus-on-chromosome-13
#14
D Schnider, S Rieder, T Leeb, V Gerber, M Neuditschko
Recurrent airway obstruction (RAO), also known as heaves, is an asthma-like respiratory disease. Its development is strongly influenced by environmental risk factors such as sensitization and exposure to moldy hay, straw bedding and stabling indoors. A hereditary component has been documented in previous studies; however, so far no causative genetic variant that influences the risk of developing RAO has been identified. In this study, we revised an existing dataset and selected 384 horses for genotyping on the Affymetrix high-density equine SNP array...
July 24, 2017: Animal Genetics
https://www.readbyqxmd.com/read/28736993/molecular-characterization-of-streptococcus-pneumoniae-particularly-serotype19a-st320-that-emerged-in-krasnoyarsk-russia
#15
Irina N Protasova, Tsai-Wen Wan, Natalya V Bakhareva, Wei-Chun Hung, Wataru Higuchi, Yasuhisa Iwao, Tatyana A Yelistratova, Natalya A Ilyenkova, Yelena S Sokolovskaya, Galina P Martynova, Ivan V Reva, Galina V Reva, Sergey V Sidorenko, Lee-Jene Teng, Olga V Peryanova, Alla B Salmina, Tatsuo Yamamoto
Streptococcus pneumoniae, a common human pathogen, colonizes the nasopharynx and causes diseases including acute otitis media (AOM). We herein report pneumococcal serotype distributions in children before and after PCV7 vaccination and in patients with pneumococcal disease in Siberian Russia (Krasnoyarsk). Analyses included antimicrobial susceptibility testing, ST typing, a pulsed-field gel electrophoresis analysis, virulence-related surface protein gene (VSG) typing with novel primers, and a structural analysis by scanning electron microscopy...
July 23, 2017: Microbiology and Immunology
https://www.readbyqxmd.com/read/28736583/microrna-profiling-of-ovarian-granulosa-cell-tumours-reveals-novel-diagnostic-and-prognostic-markers
#16
Wei-Tzu Cheng, Roseanne Rosario, Anita Muthukaruppan, Michelle K Wilson, Kathryn Payne, Peter C Fong, Andrew N Shelling, Cherie Blenkiron
BACKGROUND: The aim of this study was to explore the clinical utility of microRNAs (miRNAs) as improved markers of ovarian granulosa cell tumours (GCTs) for cancer diagnosis and prognosis prediction. Current histopathological and genetic markers, such as the presence of a FOXL2 gene mutation to distinguish between the two major subtypes are not wholly accurate and as such novel biomarkers are warranted. METHODS: The miRNA expression profiles of five formalin-fixed, paraffin-embedded (FFPE) adult-GCTs and five juvenile-GCTs were assessed using Affymetrix miRNA 3...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28736571/evaluation-of-quality-assessment-protocols-for-high-throughput-genome-resequencing-data
#17
REVIEW
Matteo Chiara, Giulio Pavesi
Large-scale initiatives aiming to recover the complete sequence of thousands of human genomes are currently being undertaken worldwide, concurring to the generation of a comprehensive catalog of human genetic variation. The ultimate and most ambitious goal of human population scale genomics is the characterization of the so-called human "variome," through the identification of causal mutations or haplotypes. Several research institutions worldwide currently use genotyping assays based on Next-Generation Sequencing (NGS) for diagnostics and clinical screenings, and the widespread application of such technologies promises major revolutions in medical science...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28736443/clock-3111t-c-genetic-variant-influences-the-daily-rhythm-of-autonomic-nervous-function-relevance-to-body-weight-control
#18
M-T Lo, C Bandin, H-W Yang, F A J L Scheer, K Hu, M Garaulet
BACKGROUND/OBJECTIVES: Humans carrying the genetic risk variant C at the circadian CLOCK (Circadian Locomotor Output Cycles Kaput) 3111T/C have been shown to have more difficulties to achieve desired weight loss than TT carriers. We tested the hypothesis that the daily rhythm of autonomic nervous function differs in CLOCK 3111C carriers, leading to reduced effectiveness in weight control. SUBJECTS/METHODS: We recruited 40 overweight/obese Caucasian women (BMI>25), 20 carrying CLOCK 3111C (CC and TC) and 20 non-carriers with matched age and BMI who participated in a dietary obesity treatment program of up to 30 weeks...
July 24, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/28736290/regulated-proteolysis-as-an-element-of-er-stress-and-autophagy-implications-for-intestinal-inflammation
#19
REVIEW
Stephanie Stengel, Berith Messner, Maren Falk-Paulsen, Nina Sommer, Philip Rosenstiel
Endoplasmic reticulum (ER) stress and autophagy are tightly controlled cellular processes, which are responsible for maintaining protein homeostasis in a cell. Impairment of the interlinking pathways have been implicated in a number of human diseases, prominently in inflammatory bowel disease, where genetic variants in several independent autophagy and ER stress related loci have been associated to increased disease risk. Autophagy is a selective quality control process, which governs the integrity of the cell by removal of aged organelles and proteins via the lysosome, but recently has been shown to actively license the outcome of other signaling pathways by guiding the proteolytic removal of signaling protein complexes (adaptophagy)...
July 20, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28736280/the-serine-threonine-protein-phosphatase-2a-controls-autoimmunity
#20
Amir Sharabi, Isaac R Kasper, George C Tsokos
Protein phosphatase 2A (PP2A) is the first Ser/Thr phosphatase recognized to contribute to human and murine lupus immunopathology. PP2A expression in SLE is controlled both epigenetically and genetically, and it is increased in patients with SLE, which contributes to decreased IL-2 production, decreased CD3ζ and increased FcRγ expression on the surface of T cells, increased CREMα expression, hypomethylation of genes associated with SLE pathogenesis, and increased IL-17 production. B regulatory subunit of PP2A regulates IL-2 deprivation-induced T cell death and is decreased in SLE patients...
July 20, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
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