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https://www.readbyqxmd.com/read/27893839/no-association-between-tnf-%C3%AE-308g-a-polymorphism-and-idiopathic-recurrent-miscarriage-a-systematic-review-with-meta-analysis-and-trial-sequential-analysis
#1
Jiashu Dong, Jinwan Li, Gechen Zhou, Zheng Peng, Jingjing Li, Shengzhang Lin, Haihua Liu, Chunlin Wu, Yujie Huang, Xiaolan Lv, Shengming Dai
BACKGROUND: Conflicting results were reported on the association between the TNF-α -308G/A polymorphism and idiopathic recurrent miscarriage (IRM). Though three meta-analyses have been conducted on this topic, the conclusions were contradictory, and the results may be unreliable as certain crucial conditions were neglected. METHOD: A complete search was conducted in PubMed, Cochrane Library, and Embase, other sources like Google Scholar, ClinicalTrial.gov and reference lists of relevant articles were also retrieved...
2016: PloS One
https://www.readbyqxmd.com/read/27890101/genetic-polymorphism-studies-on-22-autosomal-str-loci-of-the-powerplex-fusion-system-in-bangladeshi-population
#2
Tania Hossain, Mahamud Hasan, Ashish K Mazumder, Pilu Momtaz, Abu Sufian, Jabedul Alam Khandaker, Sharif Akhteruzzaman
Genetic polymorphism of 22 autosomal STR loci included in PowerPlex® Fusion System (D3S1358, D1S1656, D2S441, D10S1248, D13S317, Penta E, D16S539, D18S51, D2S1338, CSF1PO, Penta D, TH01, vWA, D21S11, D7S820, D5S818, TPOX, D8S1179, D12S391, D19S433, FGA and D22S1045) was studied in 188 unrelated Bangladeshi Bengali individuals. Allele frequencies and forensic efficiency parameters such as, the power of discrimination (PD), observed and expected heterozygosity (Ho & He), polymorphism information content (PIC), probability of match (PM), power of exclusion (PE) and typical paternity index was calculated for the loci...
November 2016: Legal Medicine
https://www.readbyqxmd.com/read/27879347/recombinant-haplotypes-narrow-the-arms2-htra1-association-signal-for-age-related-macular-degeneration
#3
Felix Grassmann, Iris M Heid, Bernhard H F Weber
Age-related macular degeneration (AMD) is the leading cause of blindness in ageing societies and is caused by both environmental and genetic factors. The strongest genetic signal for AMD with odds ratios of up to 2.8 per adverse allele was found previously to center over two genes, ARMS2 and HTRA1 on 10q26, although with little knowledge as to the true functionally relevant gene or genetic variation. Due to extensive linkage disequilibrium (LD) at this locus, it was long assumed that the broad association signal cannot be dissected by statistical means...
November 22, 2016: Genetics
https://www.readbyqxmd.com/read/27848966/17q21-asthma-risk-variants-switch-ctcf-binding-and-regulate-il-2-production-by-t-cells
#4
Benjamin Joachim Schmiedel, Grégory Seumois, Daniela Samaniego-Castruita, Justin Cayford, Veronique Schulten, Lukas Chavez, Ferhat Ay, Alessandro Sette, Bjoern Peters, Pandurangan Vijayanand
Asthma and autoimmune disease susceptibility has been strongly linked to genetic variants in the 17q21 haploblock that alter the expression of ORMDL3; however, the molecular mechanisms by which these variants perturb gene expression and the cell types in which this effect is most prominent are unclear. We found several 17q21 variants overlapped enhancers present mainly in primary immune cell types. CD4(+) T cells showed the greatest increase (threefold) in ORMDL3 expression in individuals carrying the asthma-risk alleles, where ORMDL3 negatively regulated interleukin-2 production...
November 16, 2016: Nature Communications
https://www.readbyqxmd.com/read/27846231/analysis-of-vegfa-variants-and-changes-in-vegf-levels-underscores-the-contribution-of-vegf-to-polycystic-ovary-syndrome
#5
Wassim Y Almawi, Emily Gammoh, Zainab H Malalla, Safa A Al-Madhi
BACKGROUND: Vascular endothelial growth factor (VEGF) contributes to the pathogenesis of polycystic ovary syndrome (PCOS), and genetic variations in VEGFA gene were suggested to contribute to VEGF secretion and PCOS. AIM: To evaluate the association of altered VEGF levels, stemming from the presence of specific VEGFA variants, with altered risk of PCOS. SUBJECTS AND METHODS: Retrospective case-control study, performed between 2012-2015. Study subjects comprised 382 women with PCOS, and 393 control subjects...
2016: PloS One
https://www.readbyqxmd.com/read/27835649/human-oocyte-derived-methylation-differences-persist-in-the-placenta-revealing-widespread-transient-imprinting
#6
Marta Sanchez-Delgado, Franck Court, Enrique Vidal, Jose Medrano, Ana Monteagudo-Sánchez, Alex Martin-Trujillo, Chiharu Tayama, Isabel Iglesias-Platas, Ivanela Kondova, Ronald Bontrop, Maria Eugenia Poo-Llanillo, Tomas Marques-Bonet, Kazuhiko Nakabayashi, Carlos Simón, David Monk
Thousands of regions in gametes have opposing methylation profiles that are largely resolved during the post-fertilization epigenetic reprogramming. However some specific sequences associated with imprinted loci survive this demethylation process. Here we present the data describing the fate of germline-derived methylation in humans. With the exception of a few known paternally methylated germline differentially methylated regions (DMRs) associated with known imprinted domains, we demonstrate that sperm-derived methylation is reprogrammed by the blastocyst stage of development...
November 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27830284/sequence-diversification-in-recessive-alleles-of-two-host-factor-genes-suggests-adaptive-selection-for-bymovirus-resistance-in-cultivated-barley-from-east-asia
#7
Ping Yang, Antje Habekuß, Bernhard J Hofinger, Kostya Kanyuka, Benjamin Kilian, Andreas Graner, Frank Ordon, Nils Stein
Two distinct patterns of sequence diversity for the recessive alleles of two host factors HvPDIL5 - 1 and HvEIF4E indicated the adaptive selection for bymovirus resistance in cultivated barley from East Asia. Plant pathogens are constantly challenging plant fitness and driving resistance gene evolution in host species. Little is known about the evolution of sequence diversity in host recessive resistance genes that interact with plant viruses. Here, by combining previously published and newly generated targeted re-sequencing information, we systematically analyzed natural variation in a broad collection of wild (Hordeum spontaneum; Hs) and domesticated barleys (Hordeum vulgare; Hv) using the full-length coding sequence of the two host factor genes, HvPDIL5-1 and HvEIF4E, conferring recessive resistance to the agriculturally important Barley yellow mosaic virus (BaYMV) and Barley mild mosaic virus (BaMMV)...
November 9, 2016: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/27828728/population-differentiations-and-phylogenetic-analysis-of-tibet-and-qinghai-tibetan-groups-based-on-30-indel-loci
#8
Yuxin Guo, Chunmei Shen, Haotian Meng, Qian Dong, Tingting Kong, Chunhua Yang, Hongdan Wang, Rui Jin, Bofeng Zhu
In recent years, Insertion/Deletion (InDel) polymorphisms have become a hot area of forensic research. In this study, 30 InDel loci were selected to investigate the genetic polymorphisms of Tibetan groups, which are from Tibet Autonomous Region and Qinghai province of China, and explore the genetic relationships between Tibetan groups and other groups. Allele frequencies of the 30 InDel loci ranged from 0.1219 (HLD111) to 0.5609 (HLD57) in the Tibet Tibetan group and 0.1639 (HLD118) to 0.5655 (HLD124) in the Qinghai Tibetan group...
November 9, 2016: DNA and Cell Biology
https://www.readbyqxmd.com/read/27825655/mediterranean-diet-score-and-its-association-with-age-related-macular-degeneration-the-european-eye-study
#9
Ruth E Hogg, Jayne V Woodside, Alanna McGrath, Ian S Young, Jesus L Vioque, Usha Chakravarthy, Paulus T de Jong, Mati Rahu, Johan Seland, Gisele Soubrane, Laura Tomazzoli, Fotis Topouzis, Astrid E Fletcher
PURPOSE: To examine associations between adherence to a Mediterranean diet and prevalence of age-related macular degeneration (AMD) in countries ranging from Southern to Northern Europe. DESIGN: Cross-sectional, population-based epidemiologic study. PARTICIPANTS: Of 5060 randomly sampled people aged 65 years or older from 7 study centers across Europe (Norway, Estonia, United Kingdom, France, Italy, Greece, and Spain), full dietary data were available in 4753...
November 5, 2016: Ophthalmology
https://www.readbyqxmd.com/read/27816851/investigator-%C3%A2-hdplex-qiagen-reference-population-database-for-forensic-use-in-argentina
#10
Gustavo Martínez, Alicia Borosky, Daniel Corach, Cintia Llull, Laura Locarno, Mercedes Lojo, Miguel Marino, María Cecilia Miozzo, Nidia Modesti, Carla Pacharoni, Juan Pablo Pilili, María Isabel Ramella, Andrea Sala, Cecilia Schaller, Carlos Vullo, Ulises Toscanini
Currently, autosomal Short Tandem Repeat (STR) markers represent the method of election in forensic human identification. Commercial kits of most common use nowadays -e.g. PowerPlex(®)Fusion, Promega Corp.; AmpFlSTR GlobalFiler, Thermofisher scientific; Investigator 24Plex QS,Qiagen-, allow the co-amplification of 23 highly polymorphic STR loci providing a high discrimination power in human identity testing. However, in complex kinship analysis and familial database searches involving distant relationships, additional DNA typing is often required in order to achieve well-founded conclusions...
October 18, 2016: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/27805512/the-most-common-hla-alleles-and-anti-hla-antibodies-to-know-for-virtual-cross-match
#11
Bilkay Baştürk, Bircan Kantaroğlu, Miray Kavuzlu, Çağla Sarıtürk
OBJECTIVES: Human leukocyte antigens and HLAspecific antibodies are important before and after transplant treatment. The determination of the alloantibodies before transplant is useful for the estimation of risk for antibody-mediated rejection. Virtual crossmatch uses solid-phase assay to detect anti-HLA antibodies and allows exclusion of donors with unacceptable HLA antigens. The aim of our retrospective study was to investigate HLA class I and class II alleles and panel reactive antibody and Luminex Corporation (Austin, TX, USA) single-antigen bead assay positivity frequencies in the Southeastern region of Turkey...
November 2016: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/27795462/genetic-characterization-of-the-miyako-horse-based-on-polymorphisms-of-microsatellites-and-mitochondrial-dna
#12
Natsuko Senju, Teruaki Tozaki, Hironaga Kakoi, Julio Almunia, Masami Maeda, Ryota Matsuyama, Masaki Takasu
To help plan conservation of the endangered Miyako horse, a biological resource of the Miyako Islands in Japan, we characterized the genetics of the breed by genotyping 32 microsatellites and identifying mitochondrial DNA haplotypes. We also calculated genetic distances between individuals based on the proportion of shared alleles and visualized the genetic relationships with a phylogenetic tree. Two important results were obtained. One is that accurate pedigree registration of the horse by using microsatellites is possible, as the exclusion power of parentage testing is 0...
October 28, 2016: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/27793787/dynamic-and-antagonistic-allele-specific-epigenetic-modifications-controlling-the-expression-of-imprinted-genes-in-maize-endosperm
#13
Xiaomei Dong, Mei Zhang, Jian Chen, Lizeng Peng, Nan Zhang, Xin Wang, Jinsheng Lai
Genomic imprinting is often associated with allele-specific epigenetic modifications. Although there are many reports suggesting the potential roles of DNA methylation and H3K27me3 in regulation of genomic imprinting, research about the contributions of allele-specific active histone modifications to imprinting has been highly limited in plant. Here we reported the identification of 337 high-stringency allele-specific H3K4me3 and H3K36me3 peaks in maize endosperm. Paternally preferred H3K4me3 and H3K36me3 peaks mostly co-localized at paternally expressed genes (PEGs), while endosperm-specific maternally expressed genes (endo-MEGs) were associated with maternally preferred H3K4me3 and H3K36me3 peaks...
October 25, 2016: Molecular Plant
https://www.readbyqxmd.com/read/27792763/popsc-computing-toolkit-for-basic-statistics-of-molecular-population-genetics-simultaneously-implemented-in-web-based-calculator-python-and-r
#14
Shi-Yi Chen, Feilong Deng, Ying Huang, Cao Li, Linhai Liu, Xianbo Jia, Song-Jia Lai
Although various computer tools have been elaborately developed to calculate a series of statistics in molecular population genetics for both small- and large-scale DNA data, there is no efficient and easy-to-use toolkit available yet for exclusively focusing on the steps of mathematical calculation. Here, we present PopSc, a bioinformatic toolkit for calculating 45 basic statistics in molecular population genetics, which could be categorized into three classes, including (i) genetic diversity of DNA sequences, (ii) statistical tests for neutral evolution, and (iii) measures of genetic differentiation among populations...
2016: PloS One
https://www.readbyqxmd.com/read/27777904/genetics-of-prader-willi-syndrome-and-prader-will-like-syndrome
#15
Chong Kun Cheon
The Prader-Willi syndrome (PWS) is a human imprinting disorder resulting from genomic alterations that inactivate imprinted, paternally expressed genes in human chromosome region 15q11-q13. This genetic condition appears to be a contiguous gene syndrome caused by the loss of at least 2 of a number of genes expressed exclusively from the paternal allele, including SNRPN, MKRN3, MAGEL2, NDN and several snoRNAs, but it is not yet well known which specific genes in this region are associated with this syndrome...
September 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/27756224/high-resolution-analysis-of-multi-copy-variant-surface-glycoprotein-gene-expression-sites-in-african-trypanosomes
#16
Sebastian Hutchinson, Lucy Glover, David Horn
BACKGROUND: African trypanosomes cause lethal diseases in humans and animals and escape host immune attack by switching the expression of Variant Surface Glycoprotein (VSG) genes. The expressed VSGs are located at the ends of telomeric, polycistronic transcription units known as VSG expression sites (VSG-ESs). Each cell has many VSG-ESs but only one is transcribed in bloodstream-form parasites and all of them are inactive upon transmission to the insect vector mid-gut; a subset of monocistronic metacyclic VSG-ESs are then activated in the insect salivary gland...
October 18, 2016: BMC Genomics
https://www.readbyqxmd.com/read/27753022/implementing-non-invasive-prenatal-diagnosis-nipd-in-a-national-health-service-laboratory-from-dominant-to-recessive-disorders
#17
Suzanne Drury, Sarah Mason, Fiona McKay, Kitty Lo, Christopher Boustred, Lucy Jenkins, Lyn S Chitty
Our UK National Health Service regional genetics laboratory offers NIPD for autosomal dominant and de novo conditions (achondroplasia, thanataphoric dysplasia, Apert syndrome), paternal mutation exclusion for cystic fibrosis and a range of bespoke tests. NIPD avoids the risks associated with invasive testing, making prenatal diagnosis more accessible to families at high genetic risk. However, the challenge remains in offering definitive diagnosis for autosomal recessive diseases, which is complicated by the predominance of the maternal mutant allele in the cell-free DNA sample and thus requires a variety of different approaches...
2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27749843/elevated-basal-serum-tryptase-identifies-a-multisystem-disorder-associated-with-increased-tpsab1-copy-number
#18
Jonathan J Lyons, Xiaomin Yu, Jason D Hughes, Quang T Le, Ali Jamil, Yun Bai, Nancy Ho, Ming Zhao, Yihui Liu, Michael P O'Connell, Neil N Trivedi, Celeste Nelson, Thomas DiMaggio, Nina Jones, Helen Matthews, Katie L Lewis, Andrew J Oler, Ryan J Carlson, Peter D Arkwright, Celine Hong, Sherene Agama, Todd M Wilson, Sofie Tucker, Yu Zhang, Joshua J McElwee, Maryland Pao, Sarah C Glover, Marc E Rothenberg, Robert J Hohman, Kelly D Stone, George H Caughey, Theo Heller, Dean D Metcalfe, Leslie G Biesecker, Lawrence B Schwartz, Joshua D Milner
Elevated basal serum tryptase levels are present in 4-6% of the general population, but the cause and relevance of such increases are unknown. Previously, we described subjects with dominantly inherited elevated basal serum tryptase levels associated with multisystem complaints including cutaneous flushing and pruritus, dysautonomia, functional gastrointestinal symptoms, chronic pain, and connective tissue abnormalities, including joint hypermobility. Here we report the identification of germline duplications and triplications in the TPSAB1 gene encoding α-tryptase that segregate with inherited increases in basal serum tryptase levels in 35 families presenting with associated multisystem complaints...
December 2016: Nature Genetics
https://www.readbyqxmd.com/read/27741277/chromothripsis-is-a-recurrent-genomic-abnormality-in-high-risk-myelodysplastic-syndromes
#19
María Abáigar, Cristina Robledo, Rocío Benito, Fernando Ramos, María Díez-Campelo, Lourdes Hermosín, Javier Sánchez-Del-Real, Jose M Alonso, Rebeca Cuello, Marta Megido, Juan N Rodríguez, Guillermo Martín-Núñez, Carlos Aguilar, Manuel Vargas, Ana A Martín, Juan L García, Alexander Kohlmann, M Consuelo Del Cañizo, Jesús M Hernández-Rivas
To explore novel genetic abnormalities occurring in myelodysplastic syndromes (MDS) through an integrative study combining array-based comparative genomic hybridization (aCGH) and next-generation sequencing (NGS) in a series of MDS and MDS/myeloproliferative neoplasms (MPN) patients. 301 patients diagnosed with MDS (n = 240) or MDS/MPN (n = 61) were studied at the time of diagnosis. A genome-wide analysis of DNA copy number abnormalities was performed. In addition, a mutational analysis of DNMT3A, TET2, RUNX1, TP53 and BCOR genes was performed by NGS in selected cases...
2016: PloS One
https://www.readbyqxmd.com/read/27733627/a-novel-function-for-the-map-kinase-sma-5-in-intestinal-tube-stability
#20
Florian Geisler, Harald Gerhardus, Katrin Carberry, Wayne Davis, Erik Jorgensen, Christine Richardson, Olaf Bossinger, Rudolf E Leube
Intermediate filaments are major cytoskeletal components whose assembly into complex networks and isotype-specific functions are still largely unknown. Caenorhabditis elegans provides an excellent model system to study intermediate filament organization and function in vivo. Its intestinal intermediate filaments localize exclusively to the endotube, a circumferential sheet just below the actin-based terminal web. A genetic screen for defects in the organization of intermediate filaments identified a mutation in the catalytic domain of the MAP kinase 7 orthologue sma-5(kc1) In sma-5(kc1) mutants, pockets of lumen penetrate the cytoplasm of the intestinal cells...
December 1, 2016: Molecular Biology of the Cell
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