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https://www.readbyqxmd.com/read/29779223/gene-editing-vectors-for-studying-nicotinic-acetylcholine-receptors-in-cholinergic-transmission
#1
Can Peng, Yijin Yan, Veronica J Kim, Staci E Engle, Jennifer N Berry, J Michael McIntosh, Rachael L Neve, Ryan M Drenan
Nicotinic acetylcholine receptors (nAChRs), prototype members of the cys-loop ligand gated ion channel family, are key mediators of cholinergic transmission in the central nervous system. Despite their importance, technical gaps exist in our ability to dissect the function of individual subunits in the brain. To overcome these barriers, we designed CRISPR/Cas9 small guide RNA sequences (sgRNAs) for production of loss-of-function alleles in mouse nAChR genes. These sgRNAs were validated in vitro via deep sequencing...
May 19, 2018: European Journal of Neuroscience
https://www.readbyqxmd.com/read/29779171/carrying-minor-allele-of-fads1-and-haplotype-of-fads1-and-fads2-increased-the-risk-of-metabolic-syndrome-and-moderate-but-not-low-fat-diets-lowered-the-risk-in-two-korean-cohorts
#2
Sunmin Park, Da Sol Kim, Suna Kang
PURPOSE: Delta-5-desaturase (fatty acid desaturase-1, FADS1) and delta-6 desaturase (fatty acid desaturase-2, FADS2), rate-limiting enzymes in the biosynthesis of long-chain polyunsaturated fatty acids, may be associated with the risk of metabolic syndrome (MetS). We investigated how FADS1 rs174547 and FADS2 rs2845573 variants modify the prevalence of MetS and whether the risk is modulated by interactions with dietary fat. METHODS: Genetic, anthropometric, biochemical, and dietary data were collected from the Ansan/Ansung (8842 adults) and City-Rural (5512 adults) cohorts in Korea...
May 19, 2018: European Journal of Nutrition
https://www.readbyqxmd.com/read/29779151/genetic-portrait-and-phylogenetic-analysis-of-an-aksu-uyghur-population-based-on-the-19-x-str-system
#3
Ye Li, Jihong Zeng, Yujiang Fan, Guanglin He, Mingkun Xie, Tianzhen Gao, Shouyu Wang, Jin Wu
The X chromosome has a special mode of inheritance, and is thus a rich resource for population studies. In this study, the allele frequencies and forensic statistics of the 19 X chromosomal short tandem repeat loci were evaluated in 500 Uyghur individuals from Aksu Prefecture in northwest China. We further aimed to study whether the Uyghur populations located in various regions of Xinjiang share similar allele and haplotype frequency distributions, as they have experienced genetic exchanges. Population comparisons, PCA and MDS were performed for the Uyghurs and 27 populations and the results indicate that the Uyghur minority in Aksu has a relatively close phylogenetic relationship with East Asians, especially the Kazakh minority...
May 19, 2018: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/29779125/genetic-diversity-and-structure-of-a-rare-endemic-cactus-and-an-assessment-of-its-genetic-relationship-with-a-more-common-congener
#4
Niraj Rayamajhi, Jyotsna Sharma
Endemic, obligate outcrossing plant species with narrow geographic distributions and disjunct populations are prone to loss of genetic diversity. Simultaneously, delineating clear species boundaries is important for targeted conservation efforts. The rare and endemic cactus, Sclerocactus brevihamatus subsp. tobuschii (SBT), has a parapatric relationship with Sclerocactus brevihamatus subsp. brevihamatus (SBB) but genetic distance between the two taxa is unknown. We: (1) developed taxon-specific polymorphic microsatellites, (2) assessed genetic diversity within and among nine populations of SBT, and within one population of SBB, and (3) estimated the genetic relationship between the two subspecies...
May 19, 2018: Genetica
https://www.readbyqxmd.com/read/29778907/association-of-the-fto-fat-mass-and-obesity-associated-gene-rs9939609-polymorphism-with-rewarding-value-of-food-and-eating-behavior-in-chilean-children
#5
Ana Maria Obregón Rivas, Jose L Santos, Macarena A Valladares, Jameson Cameron, Gary Goldfield
OBJECTIVES: The aim of this study was to assess the association between the single-nucleotide polymorphism rs9939609 in the FTO gene and homeostatic/non-homeostatic eating behavior patterns in Chilean children. METHODS: A cross-sectional study was conducted in 258 children (44% female; 8-14 y of age). Anthropometric measurements (weight, height, Z-score of height, body mass index, and waist circumference) were performed. Eating behavior was assessed using the Eating in Absence of Hunger Questionnaire; the Child Eating Behavior Questionnaire; the Three Factor Eating Questionnaire, and the Food Reinforcement Value Questionnaire...
March 27, 2018: Nutrition
https://www.readbyqxmd.com/read/29778768/prevalence-of-g6pd-deficiency-and-associated-haematological-parameters-in-children-from-botswana
#6
Thato Motshoge, Grace Ababio, Larysa Aleksenko, Sajini Souda, Charles Waithaka Muthoga, Naledi Mutukwa, Leabaneng Tawe, Pleasure Ramatlho, Lesego Gabaitiri, Simon Chihanga, Tjantilili Mosweunyane, Shimeles Hamda, Kentse Moakofhi, Davies Ntebela, Elias Peloewetse, Loeto Mazhani, Jeffrey M Pernica, John Read, Isaac K Quaye, Giacomo Maria Paganotti
Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is commonly seen in malaria endemic areas as it is known to confer a selective advantage against malaria. Recently, we reported a high proportion of asymptomatic reservoir of Plasmodium vivax in Botswana, that calls for intervention with primaquine to achieve radical cure of vivax malaria. Considering that individuals with this enzyme deficiency are at risk of haemolysis following primaquine treatment, assessment of the population for the relative frequency of G6PD deficiency is imperative...
May 17, 2018: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/29778546/imaging-genetics-paradigms-in-depression-research-systematic-review-and-meta-analysis
#7
REVIEW
Lícia P Pereira, Cristiano A Köhler, Brendon Stubbs, Kamilla W Miskowiak, Gerwyn Morris, Bárbara P de Freitas, Trevor Thompson, Brisa S Fernandes, André R Brunoni, Michael Maes, Diego A Pizzagalli, André F Carvalho
Imaging genetics studies involving participants with major depressive disorder (MDD) have expanded. Nevertheless, findings have been inconsistent. Thus, we conducted a systematic review and meta-analysis of imaging genetics studies that enrolled MDD participants across major databases through June 30th, 2017. Sixty-five studies met eligibility criteria (N = 4034 MDD participants and 3293 controls), and there was substantial between-study variability in the methodological quality of included studies. However, few replicated findings emerged from this literature with only 22 studies providing data for meta-analyses (882 participants with MDD and 616 controls)...
May 17, 2018: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/29778421/comparison-of-two-groups-for-the-apolipoprotein-e-polymorphisms-by-using-next-generation-sequencing-the-first-group-with-three-consecutive-abortions-and-the-second-group-with-at-most-one-abortion-in-three-consecutive-pregnancies
#8
Evren Gumus
The importance of apolipoprotein E genotypes and allelic polymorphisms in the etiology of recurrent miscarriage is controversial. We plan to investigate this in a two-group study involving more than a thousand participants. In total, 1046 subjects (802 participants in the first group, 244 participants in the second group) were investigated. Women in the first group had a history of ≥3 consecutive spontaneous miscarriage and women in the second group had at most one miscarriage in three consecutive pregnancies...
May 17, 2018: Gene
https://www.readbyqxmd.com/read/29778277/interpretation-of-acid-%C3%AE-glucosidase-activity-in-creatine-kinase-elevation-a-case-of-becker-muscular-dystrophy
#9
Yoshiki Oitani, Akihiko Ishiyama, Motomichi Kosuga, Kentaro Iwasawa, Ayako Ogata, Fumiko Tanaka, Eri Takeshita, Yuko Shimizu-Motohashi, Hirofumi Komaki, Ichizo Nishino, Torayuki Okuyama, Masayuki Sasaki
BACKGROUND: Diagnosis of Pompe disease is sometimes challenging because it exhibits clinical similarities to muscular dystrophy. CASE: We describe a case of Becker muscular dystrophy (BMD) with a remarkable reduction in activity of the acid α-glucosidase (GAA) enzyme, caused by a combination of pathogenic mutation and polymorphism variants resulting in pseudodeficiency in GAA. The three-year-old boy demonstrated asymptomatic creatine kinase elevation. Neither exon deletion nor duplication was detected on multiplex ligation-dependent probe amplification (MLPA) of DMD...
May 16, 2018: Brain & Development
https://www.readbyqxmd.com/read/29778046/evaluation-of-the-microhaplotypes-panel-for-dna-mixture-analyses
#10
Peng Chen, Caiyong Yin, Zheng Li, Yan Pu, Youjia Yu, Peng Zhao, Dexin Chen, Weibo Liang, Lin Zhang, Feng Chen
The identification of a suspect in a DNA mixture typed with the standard short tandem repeat polymorphism (STR) kits has faced challenges. Several improved methods or technologies have been introduced to address this issue. However, some complex situations in the process remain elusive. In the present study, we presented a panel of 26 tiny microhaplotypes, each generating a relatively high (>3.0) effective number of alleles (Ae ) and possessing low (<50 bp) sequence lengths. The average Ae and heterozygosity values among the 9 populations of 26 microhaps were in ranges from 2...
May 12, 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29777907/novel-snps-of-wnk1-and-akr1c3-are-associated-with-preeclampsia
#11
Cheng-Juan Sun, Lin Li, Xueyan Li, Wei-Yuan Zhang, Xiao-Wei Liu
Preeclampsia is a hypertensive disorder of pregnancy and is one of the most common causes of poor perinatal outcomes. Preeclampsia increases the risk of hypertension in the future. Variants of WNK1 (lysine deficient protein kinase 1), ADRB2 (β2 adrenergic receptor), NEDD4L (ubiquitin-protein ligase NEDD4-like), KLK1 (kallikrein 1) contribute to hypertension, and AKR1C3 (aldo-keto reductase family1 member C3), is associated with preeclampsia. The association of single nucleotide polymorphisms (SNPs) in these five candidate preeclampsia susceptibility genes and the related traits in Chinese individuals were investigated...
May 16, 2018: Gene
https://www.readbyqxmd.com/read/29777899/congenital-dyshormonogenic-hypothyroidism-with-goiter-caused-by-a-sodium-iodide-symporter-slc5a5-mutation-in-a-family-of-shih-tzu-dogs
#12
E A Soler Arias, V A Castillo, J D Garcia, J C Fyfe
An iodide transport defect (ITD) in the thyroid gland was determined to cause congenital dyshormonogenic hypothyroidism with goiter (CDHG) in 2 members of a family of Shih-Tzu dogs. Strikingly, both dogs were also diagnosed with dilated cardiomyopathy at 24 and 1.5 mo of age. The only sign of hypothyroidism was a moderate growth delay in the adult dog. The ITD was recognized by the absence of uptake of technetium-99m in the salivary glands (sg) and goiter observed by scintigraphy. In the same scan, radiopharmaceutical uptake was found in the anterior mediastinum of both dogs and in the right axillary lymph node in the oldest dog...
April 24, 2018: Domestic Animal Endocrinology
https://www.readbyqxmd.com/read/29777776/distinct-roles-for-the-cell-adhesion-molecule-contactin2-in-the-development-and-function-of-neural-circuits-in-zebrafish
#13
Suman Gurung, Emilia Asante, Devynn Hummel, Ashley Williams, Oren Feldman-Schultz, Mary C Halloran, Vinoth Sittaramane, Anand Chandrasekhar
Contactin2 (Cntn2)/Transient Axonal Glycoprotein 1 (Tag1), a neural cell adhesion molecule, has established roles in neuronal migration and axon fasciculation in chick and mouse. In zebrafish, antisense morpholino-based studies have indicated roles for cntn2 in the migration of facial branchiomotor (FBM) neurons, the guidance of the axons of the nucleus of the medial longitudinal fascicle (nucMLF), and the outgrowth of Rohon-Beard (RB) central axons. To study functions of Cntn2 in later stages of neuronal development, we generated cntn2 mutant zebrafish using CRISPR-Cas9...
May 16, 2018: Mechanisms of Development
https://www.readbyqxmd.com/read/29777510/clopidogrel-pharmacogenetics-in-iranian-patients-undergoing-percutaneous-coronary-intervention
#14
Nejat Mahdieh, Ahmad Rabbani, Ata Firouzi, Ali Zahedmehr, Maryam Hoseinimoghaddam, Sedigheh Saeidi, Hamidreza Sanati, Hosseinali Basiri, Feridoun Noohi, Bahareh Rabbani, Majid Maleki
Clopidogrel is used in patients with coronary syndromes and at risk of thrombotic events or receiving percutaneous coronary intervention (PCI) for reducing heart attack and stroke. Here we present genotype and phenotype study of Iranian patients undergoing PCI treated with clopidogrel during a 6-month period of follow-up; common variants of CYP2C19, CYP3A5, CYP3A4, and ABCB1 genes were determined as well as the patients' cardiovascular outcomes to find out the effect of these variants individually and in combination...
May 18, 2018: Cardiovascular Toxicology
https://www.readbyqxmd.com/read/29777458/increased-vitamin-d-receptor-gene-expression-and-rs11568820-and-rs4516035-promoter-polymorphisms-in-autistic-disorder
#15
Burhan Balta, Hakan Gumus, Ruslan Bayramov, Keziban Korkmaz Bayramov, Murat Erdogan, Didem Behice Oztop, Muhammet Ensar Dogan, Serpil Taheri, Munis Dundar
Although there are a large number of sequence variants of different genes and copy number variations at various loci identified in autistic disorder (AD) patients, the pathogenesis of AD has not been elucidated completely. Recently, in AD patients, a large number of expression array and transcriptome studies have shown an increase in the expression of genes especially related to innate immune response. Antimicrobial effects of vitamin D and VDR are exerted through Toll-Like-Receptors (TLR) which have an important role in the innate immune response, are expressed by antigen presenting cells and recognize foreign microorganisms...
May 18, 2018: Molecular Biology Reports
https://www.readbyqxmd.com/read/29777408/genetic-association-analysis-of-osteopontin-and-matrix-gla-protein-genes-polymorphisms-with-primary-knee-osteoarthritis-in-mexican-population
#16
Verónica Marusa Borgonio-Cuadra, Norma Celia González-Huerta, Emma Xochitl Rojas-Toledo, Eugenio Morales-Hernández, Nonanzit Pérez-Hernández, José Manuel Rodríguez-Pérez, Carlos Alfonso Tovilla-Zárate, Thelma Beatriz González-Castro, Yazmín Hernández-Díaz, María Lilia López-Narváez, Antonio Miranda-Duarte
Primary osteoarthritis (OA) is a complex entity in which several loci related to different molecular pathways or classes of molecules are associated with its development as demonstrated through genetic association studies. Genes involved in bone formation and mineralization, such as osteopontin (OPN) and Matrix Gla protein (MGP), could also be related with OA. The aim of this study was to evaluate the association between the genetic variants of OPN and MGP with primary knee osteoarthritis in a Mexican population...
May 18, 2018: Clinical Rheumatology
https://www.readbyqxmd.com/read/29777237/dna-methylation-variant-b-vitamins-intake-and-longitudinal-change-in-body-mass-index
#17
Xiang Li, Tiange Wang, Min Zhao, Tao Huang, Dianjianyi Sun, Liyuan Han, Hoirun Nisa, Xiaoyun Shang, Yoriko Heianza, Lu Qi
BACKGROUND: Growing evidence has implicated DNA methylation (DNAm) in the regulation of body adiposity; a recent epigenome-wide association study (EWAS) identified a genetic variant determining DNAm at the SREBF1 gene that affected body mass index (BMI). OBJECTIVE: In the present study, we tested interactions between DNAm variant rs752579 and methylation metabolism-related B-vitamins (folate, vitamin B2 , vitamin B6 , and vitamin B12 ) on longitudinal change in BMI in the Women's Health Initiative Memory Study (WHIMS)...
May 17, 2018: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/29777226/genetic-contribution-to-waist-to-hip-ratio-in-mexican-children-and-adolescents-based-on-12-loci-validated-in-european-adults
#18
Michelle Turcotte, Arkan Abadi, Jesus Peralta-Romero, Fernando Suarez, Hudson Reddon, Jaime Gomez-Zamudio, Ana I Burguete-Garcia, Miguel Cruz, David Meyre
BACKGROUND/OBJECTIVES: The prevalence of abdominal obesity in Mexican children has risen dramatically in the past decade. Genome-wide association studies (GWAS) for waist-to-hip ratio (WHR) performed predominantly in European descent adult  populations have identified multiple single-nucleotide polymorphisms (SNPs) with larger effects in women. The contribution of these SNPs to WHR in non-European children is unknown. SUBJECTS/METHODS: Mexican children and adolescents (N = 1421, 5-17 years) were recruited in Mexico City...
March 13, 2018: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/29777116/genetic-risk-score-of-common-genetic-variants-for-impaired-fasting-glucose-and-newly-diagnosed-type-2-diabetes-influences-oxidative-stress
#19
Minjoo Kim, Minkyung Kim, Limin Huang, Sun Ha Jee, Jong Ho Lee
We tested the hypothesis that the cumulative effects of common genetic variants related to elevated fasting glucose are collectively associated with oxidative stress. Using 25 single nucleotide polymorphisms (SNPs), a weighted genetic risk score (wGRS) was constructed by summing nine risk alleles based on nominal significance and a consistent effect direction in 1,395 controls and 718 patients with impaired fasting glucose (IFG) or newly diagnosed type 2 diabetes. All the participants were divided into the following three groups: low-wGRS, middle-wGRS, and high-wGRS groups...
May 18, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29777021/serum-6-bromotryptophan-levels-identified-as-a-risk-factor-for-ckd-progression
#20
Adrienne Tin, Girish Nadkarni, Anne M Evans, Cheryl A Winkler, Erwin Bottinger, Casey M Rebholz, Mark J Sarnak, Lesley A Inker, Andrew S Levey, Michael S Lipkowitz, Lawrence J Appel, Dan E Arking, Josef Coresh, Morgan E Grams
Background Metabolite levels reflect physiologic homeostasis and may serve as biomarkers of disease progression. Identifying metabolites associated with APOL1 risk alleles-genetic variants associated with CKD risk commonly present in persons of African descent-may reveal novel markers of CKD progression relevant to other populations. Methods We evaluated associations between the number of APOL1 risk alleles and 760 serum metabolites identified via untargeted profiling in participants of the African American Study of Kidney Disease and Hypertension (AASK) ( n =588; Bonferroni significance threshold P <6...
May 18, 2018: Journal of the American Society of Nephrology: JASN
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