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https://www.readbyqxmd.com/read/28647991/-the-chinese-national-twin-cohort-an-update
#1
W J Gao, L M Li
The importance of large cohort studies in China has been increasingly emphasized. As special group in the population, twins provide excellent natural resources since they share the same birthday, maternal intrauterine environment and early family environment. Twin cohorts are unique for and benefit on controlling the confounding factors as age, gender (same-sex twins), genetic background (monozygotic twins) or early environment (being raised together) in the etiological studies on complex diseases. In this review, we briefly introduce the objectives, current situation, challenges and opportunities related to the Chinese national twin cohort, focusing on the characteristics of twins that are different from other groups in the general population...
June 10, 2017: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
https://www.readbyqxmd.com/read/28647985/-discriminatory-power-of-variable-number-on-tandem-repeats-loci-for-genotyping-mycobacterium-tuberculosis-strains-in-china
#2
H X Chen, C Cai, J Y Liu, Z G Zhang, M Yuan, J N Jia, Z G Sun, H R Huang, J M Gao, W M Li
Objective: Using the standard genotype method, variable number of tandem repeats (VNTR), we constructed a VNTR database to cover all provinces and proposed a set of optimized VNTR loci combinations for each province, in order to improve the preventive and control programs on tuberculosis, in China. Methods: A total of 15 loci VNTR was used to analyze 4 116 Mycobacterium tuberculosis strains, isolated from national survey of Drug Resistant Tuberculosis, in 2007. Hunter-Gaston Index (HGI) was also used to analyze the discriminatory power of each VNTR site...
June 10, 2017: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
https://www.readbyqxmd.com/read/28647950/turner-syndrome-care-of-the-patient-birth-to-late-adolescence
#3
Denise Gruccio Paolucci, Vaneeta Bamba
Turner syndrome (TS) is a genetic condition occurring in females resulting from the loss of part or all of one of the X chromosomes. The two hallmark features of Turner syndrome include short stature and primary ovarian insufficiency. In addition, Turner syndrome can involve multiple healthcare issues including cardiac and renal anomalies, autoimmune disorders, hearing loss, ophthalmologic issues, bone anomalies, dermatologic issues and psychosocial and educational concerns. The presenting signs of Turner syndrome can vary markedly, leading to delayed or even missed diagnosis...
June 2017: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28647923/foodborne-illness-outbreak-investigation-in-a-high-profile-sports-club
#4
Kwendy Cavanagh, Travers Johnstone, Essi Huhtinen, Zeina Najjar, Peter Lorentzos, Craig Shadbolt, John Shields, Leena Gupta
A foodborne illness outbreak involving an elite sports team was investigated by a public health unit in Sydney, Australia. An epidemiological association was established between gastrointestinal illness and the consumption of food supplied by an external caterer, with a lamb meal most strongly associated with illness. Genetically identical Salmonella isolates were identified from clinical specimens, residual food items, and an environmental swab taken from the catering premises. The training schedule and other club operations were significantly affected by this outbreak...
December 2017: Sports Medicine—Open
https://www.readbyqxmd.com/read/28647896/omics-based-hybrid-prediction-in-maize
#5
Matthias Westhues, Tobias A Schrag, Claas Heuer, Georg Thaller, H Friedrich Utz, Wolfgang Schipprack, Alexander Thiemann, Felix Seifert, Anita Ehret, Armin Schlereth, Mark Stitt, Zoran Nikoloski, Lothar Willmitzer, Chris C Schön, Stefan Scholten, Albrecht E Melchinger
Complementing genomic data with other "omics" predictors can increase the probability of success for predicting the best hybrid combinations using complex agronomic traits. Accurate prediction of traits with complex genetic architecture is crucial for selecting superior candidates in animal and plant breeding and for guiding decisions in personalized medicine. Whole-genome prediction has revolutionized these areas but has inherent limitations in incorporating intricate epistatic interactions. Downstream "omics" data are expected to integrate interactions within and between different biological strata and provide the opportunity to improve trait prediction...
June 24, 2017: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/28647887/connexins-and-pannexins-in-bone-and-skeletal-muscle
#6
REVIEW
Lilian I Plotkin, Hannah M Davis, Bruno A Cisterna, Juan C Sáez
PURPOSE OF REVIEW: To discuss current knowledge on the role of connexins and pannexins in the musculoskeletal system. RECENT FINDINGS: Connexins and pannexins are crucial for the development and maintenance of both bone and skeletal muscle. In bone, the presence of connexin and more recently of pannexin channels in osteoblasts, osteoclasts, and osteocytes has been described and shown to be essential for normal skeletal development and bone adaptation. In skeletal muscles, connexins and pannexins play important roles during development and regeneration through coordinated regulation of metabolic functions via cell-to-cell communication...
June 24, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28647870/prothrombotic-genetic-risk-factors-in-patients-with-very-early-st-segment-elevation-myocardial-infarction
#7
Loukianos S Rallidis, Argyri Gialeraki, Georgios Tsirebolos, Stylianos Tsalavoutas, Maria Rallidi, Efstathios Iliodromitis
The contribution of prothrombotic genetic risk factors in the pathogenesis of premature acute myocardial infarction (MI) is controversial. We examined the prevalence of prothrombotic polymorphisms (G1691A of factor V gene [FV Leiden] and G20210A of prothrombin [FII] gene), deficiencies of natural anticoagulants (protein C, protein S and antithrombin III) and antiphospholipid syndrome (APS) in patients with early ST-segment elevation MI (STEMI). We recruited 255 consecutive patients who had survived a STEMI ≤ 35 years of age (224 men)...
June 24, 2017: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/28647851/a-questionnaire-survey-of-radiological-diagnosis-and-management-of-renal-dysplasia-in-children
#8
Giovanni Montini, Marco Busutti, Fatos Yalcinkaya, Adrian S Woolf, Stefanie Weber
BACKGROUND: The condition called renal dysplasia is considered to be a frequent cause of chronic kidney disease in children. Formally, it is defined by histological parameters. In current nephrology practice, however, the appearance of the kidneys on ultrasound scanning is often used as a basis for the diagnosis. METHODS: The European Society for Pediatric Nephrology Working Group on Congenital Anomalies of the Kidney and Urinary Tract hypothesized that the current diagnostic approach with regard to renal dysplasia was not homogeneous...
June 24, 2017: Journal of Nephrology
https://www.readbyqxmd.com/read/28647832/genetic-dissection-of-adventitious-shoot-regeneration-in-roses-by-employing-genome-wide-association-studies
#9
Thi Hong Nhung Nguyen, Dietmar Schulz, Traud Winkelmann, Thomas Debener
We analysed the capacity to regenerate adventitious shoots in 96 rose genotypes and found 88 SNP markers associated with QTLs, some of which are derived from candidate genes for shoot regeneration. In an association panel of 96 rose genotypes previously analysed for petal colour, we conducted a genome-wide association study on the capacity of leaf petioles for direct shoot regeneration. Shoot regeneration rate and shoot ratio (number of shoots/total number of explants) were used as phenotypic descriptors for regeneration capacity...
June 24, 2017: Plant Cell Reports
https://www.readbyqxmd.com/read/28647829/extra-central-nervous-system-metastases-from-glioblastoma-a-new-possible-trigger-event
#10
G Simonetti, A Silvani, L Fariselli, A F Hottinger, G A Pesce, F Prada, P Gaviani
Extra-cranial metastases of glioblastoma (GBM) represent a rare event, and the biological-genetic mechanisms involved in the pathogenesis have not yet been determined. We report the case of a young patient with multiple visceral and osseous metastases occurred after 4 years after first diagnosis of GBM. The strangeness as well as the rarity of this event does not allow to identify an effective treatment for GBM metastases, making the management of this ominous tumor an even greater challenge.
June 24, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28647812/genetically-engineered-orange-petunias-on-the-market
#11
Hany Bashandy, Teemu H Teeri
Unauthorized genetically engineered orange petunias were found on the market. Genetic engineering of petunia was shown to lead to novel flower color some 20 years ago. Here we show that petunia lines with orange flowers, generated for scientific purposes, apparently found their way to petunia breeding programmes, intentionally or unintentionally. Today they are widely available, but have not been registered for commerce.
June 24, 2017: Planta
https://www.readbyqxmd.com/read/28647784/replacing-single-frozen-thawed-euploid-embryos-in-a-natural-cycle-in-ovulatory-women-may-increase-live-birth-rates-compared-to-medicated-cycles-in-anovulatory-women
#12
Alexis P Melnick, Robert Setton, Logan D Stone, Nigel Pereira, Kangpu Xu, Zev Rosenwaks, Steven D Spandorfer
PURPOSE: The goal of this study was to compare pregnancy outcomes between natural frozen embryo transfer (FET) cycles in ovulatory women and programmed FET cycles in anovulatory women after undergoing in vitro fertilization with preimplantation genetic screening (IVF-PGS). METHODS: This was a retrospective cohort study performed at an academic medical center. Patients undergoing single FET IVF-PGS cycles between October 2011 and December 2014 were included. Patients were stratified by type of endometrial replacement: programmed cycles with estrogen/progesterone replacement and natural cycles...
June 24, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28647780/analysis-of-newly-identified-and-rare-synonymous-genetic-variants-in-the-ret-gene-in-patients-with-medullary-thyroid-carcinoma-in-polish-population
#13
Maria Sromek, Małgorzata Czetwertyńska, Magdalena Tarasińska, Aneta Janiec-Jankowska, Renata Zub, Maria Ćwikła, Dorota Nowakowska, Magdalena Chechlińska
Gain-of-function germline mutations of the RET proto-oncogene are responsible for initiation of carcinogenesis within the thyroid gland and development of hereditary form of medullary thyroid carcinoma and MEN2 syndrome. Genotype-phenotype correlations are established for most RET mutations, but the importance of the synonymous changes in this gene remains debatable. We aimed to analyze RET gene variants in Polish population. Genetic testing for the RET gene variants was performed with standard methods in 585 people aged 1-85, including 448 patients with medullary thyroid carcinoma and 131 of their first- and second-degree relatives, as well as six patients suspected of MTC/MEN2...
June 24, 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28647758/a-meta-analysis-of-quantitative-trait-loci-for-abiotic-and-biotic-stress-resistance-in-tetraploid-cotton
#14
Abdelraheem Abdelraheem, Feng Liu, Mingzhou Song, Jinfa F Zhang
The number and location of mapped quantitative trait loci (QTL) depend on genetic populations and testing environments. The identification of consistent QTL across genetic backgrounds and environments is a pre-requisite to marker-assisted selection. This study analyzed a total of 661 abiotic and biotic stress resistance QTL based on our previous work and other publications using the meta-analysis software Biomercator. It identified chromosomal regions containing QTL clusters for different resistance traits and hotspots for a particular resistance trait in cotton from 98 QTL for drought tolerance under greenhouse (DT) and 150 QTL in field conditions (FDT), 80 QTL for salt tolerance in the greenhouse conditions (ST), 201 QTL for resistance to Verticillium wilt (VW, Verticillium dahliae), 47 QTL for resistance to Fusarium wilt (FW, Fusarium oxysporum f...
June 24, 2017: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/28647735/uniparental-disomy-of-chromosome-15-in-two-cases-by-chromosome-microarray-a-lesson-worth-thinking
#15
Shu Liu, Kaihui Zhang, Fengling Song, Yali Yang, Yuqiang Lv, Min Gao, Yi Liu, Zhongtao Gai
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurogenetic disorders caused by loss of function of the imprinted genes at 15q11q13. A 5-7 Mb paternal/maternal deletion of chromosomal region 15q11.2q13 is the major genetic cause of PWS/AS, but in a small group of patients, the PWS/AS phenotype can result from maternal/paternal uniparental disomy (UPD) of chromosome 15. Various mechanisms leading to UPD include gametic complementation, trisomy rescue, and compensatory UPD, which can be inferred from the pattern of uniparental heterodisomy (heteroUPD) or uniparental isodisomy (isoUPD)...
June 24, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28647733/role-of-mesenchymal-stem-cells-in-bone-regenerative-medicine-what-is-the-evidence
#16
Ahmad Oryan, Amir Kamali, Ali Moshiri, Mohamadreza Baghaban Eslaminejad
Healing and regeneration of bone injuries, particularly those that are associated with large bone defects, are a complicated process. There is growing interest in the application of osteoinductive and osteogenic growth factors and mesenchymal stem cells (MSCs) in order to significantly improve bone repair and regeneration. MSCs are multipotent stromal stem cells that can be harvested from many different sources and differentiated into a variety of cell types, such as preosteogenic chondroblasts and osteoblasts...
June 24, 2017: Cells, Tissues, Organs
https://www.readbyqxmd.com/read/28647693/recognition-investigation-and-management-of-mitochondrial-disease
#17
REVIEW
James E Davison, Shamima Rahman
Mitochondria are dynamic organelles present in virtually all human cells that are needed for a multitude of cellular functions, including energy production, control of cell apoptosis and numerous biochemical catabolic and synthetic pathways that are critical for cellular health. Primary mitochondrial disorders are a group of greater than 200 single gene defects arising from two genomes (nuclear and mitochondrial) leading to mitochondrial dysfunction, and are associated with extremely heterogeneous phenotypes...
June 24, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28647682/body-mass-index-body-dissatisfaction-and-adolescent-smoking-initiation
#18
Laurence J Howe, Lea Trela-Larsen, Michelle Taylor, Jon Heron, Marcus R Munafò, Amy E Taylor
BACKGROUND: Smoking influences body weight, but there is little evidence as to whether body mass index (BMI) and body dissatisfaction increase smoking initiation in adolescents. METHODS: We evaluated the association between measured BMI, body dissatisfaction and latent classes of smoking initiation (never smokers, experimenters, late onset regular smokers, early onset regular smokers) in the Avon Longitudinal Study of Parents and Children. In observational analyses we used BMI (N=3754) and body dissatisfaction at age 10...
June 8, 2017: Drug and Alcohol Dependence
https://www.readbyqxmd.com/read/28647618/genetic-and-ecological-processes-promoting-early-diversification-in-the-lowland-mesoamerican-bat-sturnira-parvidens-chiroptera-phyllostomidae
#19
Giovani Hernández-Canchola, Livia León-Paniagua
With 22 species, Sturnira is the most speciose genus of frugivorous Neotropical bats. Sturnira parvidens inhabits lowland tropical areas from Mexico to Central America. The elevation of this taxon to species level was recent, and discrepancies with respect to its geographic limits and phylogenetic position continue to exist. In order to identify genetic and ecological processes likely involved in the diversification and current distribution of S. parvidens, we evaluated relationships, researched phylogeographic and demographic history, and tested the divergence/conservatism of the climatic niche of this bat...
June 21, 2017: Molecular Phylogenetics and Evolution
https://www.readbyqxmd.com/read/28647599/pcr-sscp-analysis-of-mdgi-gene-and-its-association-with-milk-production-traits-in-river-buffalo-bubalus-bubalis
#20
P K Dubey, S Dubey, S K Mishra, R Arora, J Patel, K P Singh, P Kathiravan, B P Mishra, R S Kataria
In this study, we investigated the genetic variation within 3'UTR of Mammary-Derived Growth Inhibitor (MDGI) gene of buffalo using PCR-SSCP and sequencing; and also analyzed association of polymorphism with the milk production traits. The study revealed two conformational patterns, 'A' and 'B' among 234 Mehsana buffaloes maintained with their records in the field and at farm. The frequency of SSCP variant 'A' was found to be invariably high in the buffalo population under study. Further, association analysis of SSCP variants with various milk production and milk quality traits indicated no significant effect on any of the traits investigated...
June 12, 2017: Research in Veterinary Science
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