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https://www.readbyqxmd.com/read/29150992/accelerated-aging-and-aging-process-in-the-brain
#1
Nickolay K Isaev, Elisaveta E Genrikhs, Maria V Oborina, Elena V Stelmashook
One of the approaches to the research of the problem of aging is the study of genetic pathologies leading to accelerated aging, such as the Hutchinson-Gilford progeria syndrome, Werner syndrome, and Down syndrome. Probably, this approach can be used in an attempt to understand the neuronal mechanisms underlying normal and pathological brain aging. The analysis of the current state of scientific knowledge about these pathologies shows that in the Hutchinson-Gilford progeria and Werner syndrome, the rate of brain aging is significantly lower than the rate of whole body aging, whereas in Down syndrome, the brain ages faster than other organs due to amyloid-beta accumulation and chronic oxidative stress in the brain tissue...
November 18, 2017: Reviews in the Neurosciences
https://www.readbyqxmd.com/read/29150991/population-based-differences-in-immune-system-response-contribute-to-an-increased-risk-of-schizophrenia-in-african-migrants
#2
Milica J Nesic, Nadja P Maric
Among the highest incidences of schizophrenia is the one documented in second-generation migrants of African descent in the Western countries. Interestingly, people of African and European ancestry demonstrate significant genetic-based differences in immune system regulation and response. As a result, the pro-inflammatory phenotype is more pronounced in people of African descent than it is in Europeans. At the same time, the role of the immune system in the etiology of schizophrenia is gaining increased recognition...
November 18, 2017: Reviews in the Neurosciences
https://www.readbyqxmd.com/read/29150962/genotype-and-diet-affect-resistance-survival-and-fecundity-but-not-fecundity-tolerance
#3
Megan A M Kutzer, Joachim Kurtz, Sophie A O Armitage
Insects are exposed to a variety of potential pathogens in their environment, many of which can severely impact fitness and health. Consequently, hosts have evolved resistance and tolerance strategies to suppress or cope with infections. Hosts utilising resistance improve fitness by clearing or reducing pathogen loads and hosts utilising tolerance reduce harmful fitness effects per pathogen load. To understand variation in, and selective pressures on resistance and tolerance we asked to what degree they are shaped by host genetic background, whether plasticity in these responses depends upon dietary environment, and whether there are interactions between these two factors...
November 18, 2017: Journal of Evolutionary Biology
https://www.readbyqxmd.com/read/29150909/genetic-analysis-of-osteogenesis-imperfecta-in-the-palestinian-population-molecular-screening-of-49-affected-families
#4
Osama Essawi, Sofie Symoens, Maha Fannana, Mohammad Darwish, Mohammad Farraj, Andy Willaert, Tamer Essawi, Bert Callewaert, Anne De Paepe, Fransiska Malfait, Paul J Coucke
BACKGROUND: Osteogenesis imperfecta (OI) is a heterogeneous hereditary connective tissue disorder clinically hallmarked by increased susceptibility to bone fractures. METHODS: We analyzed a cohort of 77 diagnosed OI patients from 49 unrelated Palestinian families. Next-generation sequencing technology was used to screen a panel of known OI genes. RESULTS: In 41 probands, we identified 28 different disease-causing variants of 9 different known OI genes...
November 18, 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29150903/phylogenetic-and-genetic-variation-analyses-of-porcine-circovirus-type-2-isolated-from-china
#5
S Yang, S Yin, Y Shang, B Liu, L Yuan, M U Zafar Khan, X Liu, J Cai
Porcine circovirus type 2 (PCV2) is a causative agent of PCV2-associated disease, which is a growing problem in the swine industry worldwide. High nucleotide substitution occurs in the capsid (Cap) gene of PCV2, which allows the continuous evolution and the emergence of novel PCV2 strains. In this study, we sequenced 24 Chinese PCV2 strains collected from healthy and diseased pigs between 2013 and 2015. Analyses of the genome, Cap and phylogeny classified the 24 Chinese PCV2 strains as PCV-2a (four of 24), PCV-2b (five of 24) and PCV-2d (15 of 24)...
November 17, 2017: Transboundary and Emerging Diseases
https://www.readbyqxmd.com/read/29150902/wieacker-wolff-syndrome-with-associated-cleft-palate-in-a-female-case
#6
Natalie D Godfrey, Samandar Dowlatshahi, Madelena M Martin, Douglas M Rothkopf
Wieacker-Wolff syndrome is a rare congenital syndrome with few reported cases in the current literature. It is traditionally described in males as an X-linked recessive disorder associated with congenital contractures of the feet, progressive neurologic muscular atrophy, and intellectual delay caused by ZC4H2 mutations. The purpose of this paper is to present a female individual with a classic phenotype and cleft palate, a previously undescribed finding in this syndrome. Recent reports have demonstrated that females are rarely severely affected and phenotypic expression is difficult to predict [Zanzottera et al...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29150900/genetic-overlap-between-epilepsy-and-schizophrenia-evidence-from-cross-phenotype-analysis-in-hong-kong-chinese-population
#7
Hongsheng Gui, Miaoxin Li, Pak C Sham, Larry Baum, Patrick Kwan, Stacey S Cherny
Epilepsy and schizophrenia are common and typical neurological or mental illness respectively, and sometimes they comorbid in the same patients, however the underlying genetic relationship between the two brain diseases is still not fully understood. To investigate the possible genetic contribution to their comorbidity, we performed polygenic risk score (PRS) analyses and genetic correlation estimation so as to identify the overall genetic overlap between the two diseases. The global schizophrenia PRS is strongly associated with schizophrenia phenotype in Hong Kong population (odds ratio = 1...
November 17, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29150899/p-arg69trp-in-rnaseh2c-is-a-founder-variant-in-three-indian-families-with-aicardi-gouti%C3%A3-res-syndrome
#8
Malavika Hebbar, Anil Kanthi, Aroor Shrikiran, Snehal Patil, Mamta Muranjan, Febi Francis, Vishnu Bhat B, Katta M Girisha, Anju Shukla
Aicardi-Goutières syndrome is an early-onset severe neurological disorder characterized by intracranial calcification, white matter abnormalities, hepatosplenomegaly, cerebrospinal fluid lymphocytosis, and elevated interferon-α levels, thus mimicking congenital viral infections. It is a genetically heterogeneous condition and autosomal recessive and autosomal dominant forms with variations in seven genes known till date. Variations in RNASEH2C cause an autosomal recessive form of AGS. Here we report three Indian families with variant, c...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29150894/unique-association-of-hypochondroplasia-with-craniosynostosis-and-cleft-palate-in-a-mexican-family
#9
Ariadna González-Del Angel, Alan Caro-Contreras, Miguel Angel Alcántara-Ortigoza, Sandra Ramos, Roberto Cruz-Alcívar, Paola Moyers-Pérez
Hypochondroplasia (HCH) is a skeletal dysplasia caused by an abnormal function of the fibroblast growth factor receptor 3. Although believed to be relatively common, its prevalence and phenotype are not well established owing to its clinical, radiological, and genetic heterogeneity. Here we report on a molecularly proven HCH family with an affected father and two children. The siblings (male and female) with HCH also had craniosynostosis and cleft palate, respectively. The present report supports the conclusion that the full clinical spectrum of HCH is not completely delineated...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29150855/thalamic-volume-reduction-in-drug-naive-patients-with-new-onset-genetic-generalized-epilepsy
#10
Suejen Perani, Tim M Tierney, Maria Centeno, Elhum A Shamshiri, Siti N Yaakub, Jonathan O'Muircheartaigh, David W Carmichael, Mark P Richardson
OBJECTIVE: Patients with genetic generalized epilepsy (GGE) have subtle morphologic abnormalities of the brain revealed with magnetic resonance imaging (MRI), particularly in the thalamus. However, it is unclear whether morphologic abnormalities of the brain in GGE are a consequence of repeated seizures over the duration of the disease, or are a consequence of treatment with antiepileptic drugs (AEDs), or are independent of these factors. Therefore, we measured brain morphometry in a cohort of AED-naive patients with GGE at disease onset...
November 18, 2017: Epilepsia
https://www.readbyqxmd.com/read/29150824/legislation-of-direct-to-consumer-genetic-testing-in-europe-a-fragmented-regulatory-landscape
#11
L Kalokairinou, H C Howard, S Slokenberga, E Fisher, M Flatscher-Thöni, M Hartlev, R van Hellemondt, J Juškevičius, J Kapelenska-Pregowska, P Kováč, L Lovrečić, H Nys, A de Paor, A Phillips, L Prudil, E Rial-Sebbag, C M Romeo Casabona, J Sándor, A Schuster, S Soini, K H Søvig, D Stoffel, T Titma, T Trokanas, P Borry
Despite the increasing availability of direct-to-consumer (DTC) genetic testing, it is currently unclear how such services are regulated in Europe, due to the lack of EU or national legislation specifically addressing this issue. In this article, we provide an overview of laws that could potentially impact the regulation of DTC genetic testing in 26 European countries, namely Austria, Belgium, Cyprus, the Czech Republic, Denmark, Estonia, Finland, France, Germany, Greece, Hungary, Ireland, Italy, Latvia, Lithuania, Luxembourg, Norway, Poland, Portugal, Romania, Slovakia, Slovenia, Spain, Sweden, the Netherlands and the United Kingdom...
November 18, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29150772/norovirus-gii-17-associated-with-a-foodborne-acute-gastroenteritis-outbreak-in-brazil-2016
#12
Juliana da Silva Ribeiro de Andrade, Tulio Machado Fumian, José Paulo Gagliardi Leite, Matheus Ribeiro de Assis, Alexandre Madi Fialho, Sergio Mouta, Cristiane Mendes Pereira Santiago, Marize Pereira Miagostovich
Foodborne transmission gastroenteritis (AGE) outbreak occurred during a celebration lunch in July, 2016, Brazil. All stool samples tested were positive for noroviruses (NoV) and phylogenetic analysis revealed that strains were genetically close to GII.17 Kawasaki_2014. These findings indicated circulation of NoV GII.17 Kawasaki_2014 in the Brazilian population, associated with AGE outbreak.
November 17, 2017: Food and Environmental Virology
https://www.readbyqxmd.com/read/29150722/cross-lagged-analysis-of-interplay-between-differential-traits-in-sibling-pairs-validation-and-application-to-parenting-behavior-and-adhd-symptomatology
#13
Arden Moscati, Brad Verhulst, Kevin McKee, Judy Silberg, Lindon Eaves
Understanding the factors that contribute to behavioral traits is a complex task, and partitioning variance into latent genetic and environmental components is a useful beginning, but it should not also be the end. Many constructs are influenced by their contextual milieu, and accounting for background effects (such as gene-environment correlation) is necessary to avoid bias. This study introduces a method for examining the interplay between traits, in a longitudinal design using differential items in sibling pairs...
November 17, 2017: Behavior Genetics
https://www.readbyqxmd.com/read/29150717/genetic-diversity-and-phylogenetic-study-of-the-chinese-gelao-ethnic-minority-via-23-y-str-loci
#14
Pengyu Chen, Yanyan Han, Guanglin He, Haibo Luo, Tianzhen Gao, Feng Song, Dengfu Wan, Jian Yu, Yiping Hou
Haplotype diversity for 23 Y chromosomal short tandem repeat (Y-STR) loci included in the PowerPlex(®) Y23 System was analyzed in the Chinese Gelao minority group of 234 unrelated males living in Daozhen Gelao-Miao Autonomous County in Guizhou Province, southwest China. A total of 216 different haplotypes were detected, of which 199 haplotypes were unique. The overall haplotype diversity (HD) and discrimination capacity (DC) were 0.9996 and 0.9231, respectively. The gene diversity (GD) ranged from 0.4159 (DYS438) to 0...
November 17, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/29150706/application-of-directed-evolution-to-develop-ethanol-tolerant-oenococcus-oeni-for-more-efficient-malolactic-fermentation
#15
Alice L Betteridge, Krista M Sumby, Joanna F Sundstrom, Paul R Grbin, Vladimir Jiranek
Malolactic fermentation (MLF) is an important step in winemaking, which can be notoriously unreliable due to the fastidious nature of Oenococcus oeni. This study aimed to use directed evolution (DE) to produce a more robust strain of O. oeni having the ability to withstand high ethanol concentrations. DE involves an organism mutating and potentially adapting to a high stress environment over the course of extended cultivation. A continuous culture of O. oeni was established and exposed to progressively increasing ethanol content such that after approximately 330 generations, an isolate from this culture was able to complete MLF in high ethanol content medium earlier than its parent...
November 17, 2017: Applied Microbiology and Biotechnology
https://www.readbyqxmd.com/read/29150700/prevalence-of-intestinal-parasites-in-companion-dogs-with-diarrhea-in-beijing-china-and-genetic-characteristics-of-giardia-and-cryptosporidium-species
#16
Zhongjia Yu, Yang Ruan, Mengjie Zhou, Siyuan Chen, Yinxin Zhang, Liya Wang, Guan Zhu, Yonglan Yu
Companion animals including dogs are one of the important components in One Health. Parasites may cause not only diseases in pet animals but also many zoonotic diseases infecting humans. In this study, we performed a survey of intestinal parasites in fecal specimens (n = 485) collected from outpatient pet dogs with diarrhea in Beijing, China, for the entire year of 2015 by microscopic examination (all parasites) and SSU rRNA-based nested PCR detection (Giardia and Cryptosporidium). We observed a total of 124 (25...
November 18, 2017: Parasitology Research
https://www.readbyqxmd.com/read/29150697/a-novel-allele-of-tagw2-a1-is-located-in-a-finely-mapped-qtl-that-increases-grain-weight-but-decreases-grain-number-in-wheat-triticum-aestivum-l
#17
Huijie Zhai, Zhiyu Feng, Xiaofen Du, Yane Song, Xinye Liu, Zhongqi Qi, Long Song, Jiang Li, Linghong Li, Huiru Peng, Zhaorong Hu, Yingyin Yao, Mingming Xin, Shihe Xiao, Qixin Sun, Zhongfu Ni
A novel TaGW2-A1 allele was identified from a stable, robust QTL region, which is pleiotropic for thousand grain weight, grain number per spike, and grain morphometric parameters in wheat. Thousand grain weight (TGW) and grain number per spike (GNS) are two crucial determinants of wheat spike yield, and genetic dissection of their relationships can help to fine-tune these two components and maximize grain yield. By evaluating 191 recombinant inbred lines in 11 field trials, we identified five genomic regions on chromosomes 1B, 3A, 3B, 5B, or 7A that solely influenced either TGW or GNS, and a further region on chromosome 6A that concurrently affected TGW and GNS...
November 17, 2017: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/29150693/a-collection-of-genetically-engineered-populus-trees-reveals-wood-biomass-traits-that-predict-glucose-yield-from-enzymatic-hydrolysis
#18
Sacha Escamez, Madhavi Latha Gandla, Marta Derba-Maceluch, Sven-Olof Lundqvist, Ewa J Mellerowicz, Leif J Jönsson, Hannele Tuominen
Wood represents a promising source of sugars to produce bio-based renewables, including biofuels. However, breaking down lignocellulose requires costly pretreatments because lignocellulose is recalcitrant to enzymatic saccharification. Increasing saccharification potential would greatly contribute to make wood a competitive alternative to petroleum, but this requires improving wood properties. To identify wood biomass traits associated with saccharification, we analyzed a total of 65 traits related to wood chemistry, anatomy and structure, biomass production and saccharification in 40 genetically engineered Populus tree lines...
November 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29150691/mechanical-regulation-of-organ-asymmetry-in-leaves
#19
Jiyan Qi, Binbin Wu, Shiliang Feng, Shouqin Lü, Chunmei Guan, Xiao Zhang, Dengli Qiu, Yingchun Hu, Yihua Zhou, Chuanyou Li, Mian Long, Yuling Jiao
How appendages, such as plant leaves or animal limbs, develop asymmetric shapes remains a fundamental question in biology. Although ongoing research has revealed the genetic regulation of organ pattern formation, how gene activity ultimately directs organ shape remains unclear. Here, we show that leaf dorsoventral (adaxial-abaxial) polarity signals lead to mechanical heterogeneity of the cell wall, related to the methyl-esterification of cell-wall pectins in tomato and Arabidopsis. Numerical simulations predicate that mechanical heterogeneity is sufficient to produce the asymmetry seen in planar leaves...
September 2017: Nature Plants
https://www.readbyqxmd.com/read/29150689/distinct-genetic-architectures-for-phenotype-means-and-plasticities-in-zea-mays
#20
Aaron Kusmec, Srikant Srinivasan, Dan Nettleton, Patrick S Schnable
Phenotypic plasticity describes the phenotypic variation of a trait when a genotype is exposed to different environments. Understanding the genetic control of phenotypic plasticity in crops such as maize is of paramount importance for maintaining and increasing yields in a world experiencing climate change. Here, we report the results of genome-wide association analyses of multiple phenotypes and two measures of phenotypic plasticity in a maize nested association mapping (US-NAM) population grown in multiple environments and genotyped with ~2...
September 2017: Nature Plants
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