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Genetic testing

Chunli Zhao, Jinting Liu, Pingyuan Gong, Jie Hu, Xiaolin Zhou
BACKGROUND: People often change their opinions or behavior to match the responses of others, a phenomenon known as social conformity. Conforming behavior varies substantially across individuals. However, little is known about the genetic basis underlying individual differences in social conformity. A recent study demonstrated an association between enhanced dopaminergic function and increased conforming behavior. Given the effect of the dopamine receptor 3 gene (DRD3) Ser9Gly polymorphism (rs6280) on dopamine release in the striatum, this study investigated to what extent this polymorphism affects conforming behavior...
October 27, 2016: Neuropsychobiology
James Weger-Lucarelli, Claudia Rückert, Nunya Chotiwan, Chilinh Nguyen, Selene M Garcia Luna, Joseph R Fauver, Brian D Foy, Rushika Perera, William C Black, Rebekah C Kading, Gregory D Ebel
In 2015, Zika virus (ZIKV; Flaviviridae; Flavivirus) emerged in the Americas, causing millions of infections in dozens of countries. The rapid spread of the virus and the association with disease outcomes such as Guillain-Barré syndrome and microcephaly make understanding transmission dynamics essential. Currently, there are no reports of vector competence (VC) of American mosquitoes for ZIKV isolates from the Americas. Further, it is not clear whether ZIKV strains from other genetic lineages can be transmitted by American Aedes aegypti populations, and whether the scope of the current epidemic is in part facilitated by viral factors such as enhanced replicative fitness or increased vector competence...
October 2016: PLoS Neglected Tropical Diseases
T Pamminger, W O H Hughes
The evolution of complex societies with obligate reproductive division of labour represents one of the major transitions in evolution. In such societies, functionally sterile individuals (workers) perform many of fitness-relevant behaviours including allomaternal ones, without getting any direct fitness benefits. The question of how such worker division of labour has evolved remains controversial. The reproductive groundplan hypothesis (RGPH) offers a powerful proximate explanation for this evolutionary leap...
October 26, 2016: Evolution; International Journal of Organic Evolution
Estelle Jamard, Bertrand Volard, Audrey Emmanuelle Dugué, Angelina Legros, Alexandra Leconte, Bénédicte Clarisse, Grégoire Davy, Florence Polycarpe, Catherine Dugast, Caroline Abadie, Thierry Frebourg, Julie Tinat, Isabelle Tennevet, Valérie Layet, Florence Joly, Laurent Castéra, Pascaline Berthet, Dominique Vaur, Sophie Krieger
Germline allele specific expression (ASE), resulting in a lowered expression of one of the BRCA1 alleles, has been described as a possible predisposition marker in Hereditary Breast or Ovarian Cancer (HBOC), usable for molecular diagnosis in HBOC. The main objective of this prospective case-control study was to compare the proportion of ASE between controls without familial history of breast or ovarian cancer, and HBOC cases without BRCA1 or BRCA2 deleterious mutation. BRCA1 ASE evaluated on three SNPs among controls and HBOC patients without deleterious mutation were assessed by pyrosequencing...
October 25, 2016: Familial Cancer
Can Cai, Rong Xiao, Nicholas Van Halm-Lutterodt, Jie Zhen, Xiaochen Huang, Yao Xu, Shuying Chen, Linhong Yuan
BACKGROUND/AIM: Studies have indicated a relationship between either gene polymorphism or in vivo B vitamins' nutritional status with cognition in the elderly. However, the combined effects of MTHFR and SLC19A1gene polymorphism with serum folate and vitamin B12 levels on cognition in Chinese adult population remain unclear. METHODS: Demographic information of 426 Chinese adults aged from 55 to 90 were collected by a well designed self-administered questionnaire...
October 24, 2016: Nutrients
M K Sobczyk, J A C Smith, A J Pollard, D A Filatov
Metal hyperaccumulation is an uncommon but highly distinctive adaptation found in certain plants that can grow on metalliferous soils. Here we review what is known about evolution of metal hyperaccumulation in plants and describe a population-genetic analysis of the Alyssum serpyllifolium (Brassicaceae) species complex that includes populations of nickel-hyperaccumulating as well as non-accumulating plants growing on serpentine (S) and non-serpentine (NS) soils, respectively. To test whether the S and NS populations belong to the same or separate closely related species, we analysed genetic variation within and between four S and four NS populations from across the Iberian peninsula...
October 26, 2016: Heredity
A Bourret, D Garant
Quantitative genetics approaches, and particularly animal models, are widely used to assess the genetic (co)variance of key fitness related traits and infer adaptive potential of wild populations. Despite the importance of precision and accuracy of genetic variance estimates and their potential sensitivity to various ecological and population specific factors, their reliability is rarely tested explicitly. Here, we used simulations and empirical data collected from an 11-year study on tree swallow (Tachycineta bicolor), a species showing a high rate of extra-pair paternity and a low recruitment rate, to assess the importance of identity errors, structure and size of the pedigree on quantitative genetic estimates in our dataset...
October 26, 2016: Heredity
Shuai Wang, James B Meigs, Josée Dupuis
In recent years, improved genotyping and sequencing technologies have enabled the discovery of new loci associated with various diseases or traits. For instance, by testing the association with each single-nucleotide variant (SNV) separately, genome-wide association studies (GWAS) have achieved tremendous success in identifying SNVs associated with specific traits. However, little is known about the common genetic basis of multiple traits owing to lack of efficient methods. With the use of extended quasi-likelihood, a Wald test has been proposed to perform a bivariate analysis of a continuous and a binary trait in unrelated samples...
October 26, 2016: European Journal of Human Genetics: EJHG
Xiaoxia Hou, Yudong Zhang, Hong Chen
BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) results from NOTCH3 gene mutations, which lead to the degeneration of vascular smooth muscle cells (VSMCs). The clinical presentation of CADASIL patients is dependent on the impact of other vascular risk factors and the type of NOTCH3 mutation present. METHODS: Here, we report a rare pathogenic mutation on exon 14 of the NOTCH3 gene in a Chinese family affected by CADASIL with phenotypic peculiarities...
October 24, 2016: CNS & Neurological Disorders Drug Targets
Jan Bressler, Thomas H Mosley, Alan Penman, Rebecca F Gottesman, Beverly Gwen Windham, David S Knopman, Lisa M Wruck, Eric Boerwinkle
Alzheimer's disease (AD) is the most common form of dementia and is characterized by impairment in memory, behavioral changes, and gradual loss of autonomy. Since there is a long latent period prior to diagnosis, the aim of this study was to determine whether twenty single nucleotide polymorphisms identified in genome-wide association analyses of AD are associated with cognitive change in 8,320 white and 2,039 African-American middle-aged adults enrolled in the prospective Atherosclerosis Risk in Communities (ARIC) study...
October 26, 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Xiao-Jun Xu, Hong-Sheng Wang, Xiu-Li Ju, Pei-Fang Xiao, Yan Xiao, Hong-Man Xue, Hong-Yu Shi, Yi-Jin Gao, Guo-Cun Jia, Xue-Rong Li, Wei-Hong Zhao, Ning-Ling Wang, Yong-Min Tang
BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a heterogeneous disease with major diagnostic and therapeutic difficulties. A large-scale multicenter study of pediatric HLH is still lacking in China. PROCEDURE: The Histiocytosis Study Group of the Chinese Pediatric Society conducted this retrospective study in 2014. A total of 323 patients diagnosed with HLH between 2011 and 2013 from 12 hospitals were registered. RESULTS: The median age at diagnosis was 2...
October 26, 2016: Pediatric Blood & Cancer
Kateryna S Pantiukh, Nikolay N Chekanov, Igor V Zaigrin, Alexei M Zotov, Alexander M Mazur, Egor B Prokhortchouk
Concerns of traditional prenatal aneuploidy testing methods, such as low accuracy of noninvasive and health risks associated with invasive procedures, were overcome with the introduction of novel noninvasive methods based on genetics (NIPT). These were rapidly adopted into clinical practice in many countries after a series of successful trials of various independent submethods. Here we present results of own NIPT trial carried out in Moscow, Russia. 1012 samples were subjected to the method aimed at measuring chromosome coverage by massive parallel sequencing...
2016: F1000Research
Rikke S Møller, Line H G Larsen, Katrine M Johannesen, Inga Talvik, Tiina Talvik, Ulvi Vaher, Maria J Miranda, Muhammad Farooq, Jens E K Nielsen, Lene Lavard Svendsen, Ditte B Kjelgaard, Karen M Linnet, Qin Hao, Peter Uldall, Mimoza Frangu, Niels Tommerup, Shahid M Baig, Uzma Abdullah, Alfred P Born, Pia Gellert, Marina Nikanorova, Kern Olofsson, Birgit Jepsen, Dragan Marjanovic, Lana I K Al-Zehhawi, Sofia J Peñalva, Bente Krag-Olsen, Klaus Brusgaard, Helle Hjalgrim, Guido Rubboli, Deb K Pal, Hans A Dahl
In recent years, several genes have been causally associated with epilepsy. However, making a genetic diagnosis in a patient can still be difficult, since extensive phenotypic and genetic heterogeneity has been observed in many monogenic epilepsies. This study aimed to analyze the genetic basis of a wide spectrum of epilepsies with age of onset spanning from the neonatal period to adulthood. A gene panel targeting 46 epilepsy genes was used on a cohort of 216 patients consecutively referred for panel testing...
September 2016: Molecular Syndromology
Snezana Maljevic, Sabina Vejzovic, Matthias K Bernhard, Astrid Bertsche, Sebastian Weise, Miriam Döcker, Holger Lerche, Johannes R Lemke, Andreas Merkenschlager, Steffen Syrbe
Benign familial neonatal seizures (BFNS) present a rare familial epilepsy syndrome caused by genetic alterations in the voltage-gated potassium channels Kv7.2 and Kv7.3, encoded by KCNQ2 and KCNQ3. While most BFNS families carry alterations in KCNQ2, mutations in KCNQ3 appear to be less common. Here, we describe a family with 6 individuals presenting with neonatal focal and generalized seizures. Genetic testing revealed a novel KCNQ3 variant, c.835G>T, cosegregating with seizures in 4 tested individuals...
September 2016: Molecular Syndromology
Marcela Caleffi da Costa Lima Caniatti, Sueli Donizete Borelli, Ana Lúcia Falavigna Guilherme, Luiza Tamie Tsuneto
BACKGROUND: Type I hypersensitivity, also known as IgE-mediated allergy, is a complex, multifactorial condition whose onset and severity are influenced by both genetic and environmental factors. Mite allergens stimulate the production of humoral response (IgE), especially in children, which is closely involved in atopic asthma and rhinitis. OBJECTIVE: This study aimed to investigate the association between HLA class I (-A, -B, and -C), and HLA class II (-DRB1) genes in individuals sensitive to dust mites (Dermatophagoides farinae, Dermatophagoides pteronyssinus, or Blomia tropicalis) and mite-insensitive controls...
October 22, 2016: Human Immunology
Evelise Bach, Gabriela de Carvalho Fernandes, Luciane Maria Pereira Passaglia
Paenibacillus riograndensis SBR5(T) is a plant growth-promoting bacterium isolated from the wheat rhizosphere. Its recalcitrance to genetic manipulation is a major bottleneck for molecular studies, as has been reported for other Paenibacillus environmental isolates. An efficient electroporation protocol was established by evaluating diverse parameters and optimizing the culture medium, culture growth phase, electroporation solution, recovery medium, DNA input, and electric field strength. Efficiencies of approximately 2...
October 22, 2016: Journal of Microbiological Methods
Insiyyah Y Patanwala, Georgine Lamvu, William J Ledger, Kathryn Witzeman, Richard Marvel, Andrea Rapkin, Ann Marie Bongiovanni, Jessica Feranec, Steven S Witkin
BACKGROUND: The underlying causes of vulvar pain in women with vulvodynia remain poorly understood. Catechol-O-methyltransferase (COMT), an enzyme that metabolizes catecholamines, is a neuromodulator involved with perception and sensitivity to pain. The COMT gene is polymorphic and a single nucleotide polymorphism (SNP) is associated with low activity and heightened pain sensitivity. The variant allele encoding this polymorphism is commonly called the L allele, for low enzyme activity as opposed to the normal H (high activity) allele...
October 22, 2016: American Journal of Obstetrics and Gynecology
Michael H Gollob Md
No abstract text is available yet for this article.
October 11, 2016: Trends in Cardiovascular Medicine
I A Välimäki, T Vuorimaa, M Ahotupa, T Vasankari
We studied the effects of different types of exercises on the concentrations of oxidised HDL (oxHDLlipids) and LDL lipids (oxLDLlipids), serum lipids, antioxidant potential, paraoxonase and malondialdehyde in endurance runners by performing both a 40-min continuous run (velocity corresponding to 80% VO2max) and a 40-min intermittent run (2-min run, velocity corresponding to 100% VO2max, and 2-min rest) using a treadmill. Blood samples were taken before exercise, after 20 and 40 min of exercise, and 15 and 90 min after the end of exercise...
October 25, 2016: International Journal of Sports Medicine
Ryan A Devenyi, Francis A Ortega, Willemijn Groenendaal, Trine Krogh-Madsen, David J Christini, Eric A Sobie
Imbalances of ionic currents can destabilize the cardiac action potential and potentially trigger lethal cardiac arrhythmias. Here we combined mathematical modeling with information-rich dynamic-clamp experiments to elucidate regulation of action potential morphology in guinea pig ventricular myocytes. Parameter sensitivity analysis was used to predict how changes in ionic currents alter action potential duration, and these were tested experimentally using dynamic clamp, a technique that allows for multiple perturbations to be tested in each cell...
October 24, 2016: Journal of Physiology
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