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https://www.readbyqxmd.com/read/29332359/novel-molecular-and-metabolic-aspects-in-osteosarcoma
#1
Evangelos Tsiambas, Panagiotis P Fotiades, Chrissa Sioka, Dimitrios Kotrotsios, Evangelia Gkika, Andreas Fotopoulos, Stylianos N Mastronikolis, Ilianna E Armata, Evangelos Giotakis, Vasileios Ragos
Osteosarcoma (OS) is the most frequent bone-forming malignancy in children and adolescents. Concerning its molecular landscape, there is no a direct relationship with a specific gene, but a combination of genetic events. A broad spectrum of activated oncogenes and downregulated suppressor genes has been already explored and considered crucial for its progressive pathogenesis. Mechanisms of gene deregulation include amplifications, point mutations, allelic losses and also epigenetic abnormalities such as aberrant promoter methylation...
November 2017: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
https://www.readbyqxmd.com/read/29332197/identification-as-a-mutation-carrier-and-effects-on-life-according-to-experiences-of-finnish-male-brca1-2-mutation-carriers
#2
Outi Kajula, Outi Kuismin, Helvi Kyngäs
Earlier studies have explored post-identification experiences of male BRCA1/2 mutation carriers, but more detailed knowledge of both their experiences and effects of identification as a carrier on their lives is required to improve genetic counseling. Thus, the aim of this study was to acquire deeper and broader insights into their experiences. Qualitative data were collected from theme-based interviews with 31 men carrying BRCA1/2 mutations in Finland, and analyzed using inductive content analysis. Three categories of the participants' responses to identification as BRCA1/2 mutation carriers were identified (personal, offspring-related and related to other relatives), mainly concerning issues associated with cancer, hereditary transmission of their mutations, and life decisions...
January 13, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29331709/what-do-the-genetic-association-data-say-about-the-high-risk-of-suicide-in-people-with-depression-a-novel-network-based-approach-to-find-common-molecular-basis-for-depression-and-suicidal-behavior-and-related-therapeutic-targets
#3
Ali Bozorgmehr, Fatemeh Alizadeh, Sattar Norouzi Ofogh, Mohammad Reza Abdollahzadeh Hamzekalayi, Sara Herati, Atefeh Moradkhani, Ali Shahbazi, Mohammad Ghadirivasfi
BACKGROUND: Available sources indicate that the risk of suicide in people with major depression is higher than other psychiatric disorders. Although it seems that these two conditions may have a shared cause in some cases, no studies have been conducted to identify a common basis for them. METHODS: In this study, following an extensive review of literature, we found almost all the genes that are involved in major depression and suicidal behavior, and we isolated genes shared between the two conditions...
January 8, 2018: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29330487/a-biomarker-characterizing-neurodevelopment-with-applications-in-autism
#4
Di Wu, Jorge V José, John I Nurnberger, Elizabeth B Torres
Despite great advances in neuroscience and genetic studies, our understanding of neurodevelopmental disorders is still quite limited. An important reason is not having objective psychiatric clinical tests. Here we propose a quantitative neurodevelopment assessment by studying natural movement outputs. Movement is central to behaviors: It involves complex coordination, temporal alterations, and precise dynamic controls. We carefully analyzed the continuous movement output data, collected with high definition electromagnetic sensors at millisecond time scales...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29330379/identification-of-shared-genetic-variants-between-schizophrenia-and-lung-cancer
#5
Verena Zuber, Erik G Jönsson, Oleksandr Frei, Aree Witoelar, Wesley K Thompson, Andrew J Schork, Francesco Bettella, Yunpeng Wang, Srdjan Djurovic, Olav B Smeland, Ingrid Dieset, Ayman H Fanous, Rahul S Desikan, Sébastien Küry, Stéphane Bézieau, Anders M Dale, Ian G Mills, Ole A Andreassen
Epidemiology studies suggest associations between schizophrenia and cancer. However, the underlying genetic mechanisms are not well understood, and difficult to identify from epidemiological data. We investigated if there is a shared genetic architecture between schizophrenia and cancer, with the aim to identify specific overlapping genetic loci. First, we performed genome-wide enrichment analysis and second, we analyzed specific loci jointly associated with schizophrenia and cancer by the conjunction false discovery rate...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29329603/green-tobacco-sickness-among-brazilian-farm-workers-and-genetic-polymorphisms
#6
Marcelo Soares da Mota E Silva, Maria da Glória da Costa Carvalho, Josino Costa Moreira, Emiliano de Oliveira Barreto, Karol Fireman de Farias, Cristiane Araújo Nascimento, Francisca Maria Nunes da Silva, Tiago Gomes de Andrade, Ronir Raggio Luiz, Rodrigo Soares de Moura Neto, Fernanda Lattario Ribeiro
OBJECTIVE: Green Tobacco Sickness (GTS) is an occupational illness caused by dermal absorption of nicotine from tobacco leaves. It affects thousands of farm workers worldwide. Brazil is the second tobacco producer in the world; despite this, there are few studies on GTS among Brazilian harvesters. This study aimed to determine the prevalence of GTS among a population of tobacco workers from a producing area in northeastern Brazil and investigate whether the occurrence of the disease was influenced by factors such age, gender and smoking status...
January 12, 2018: BMC Research Notes
https://www.readbyqxmd.com/read/29329461/high-heritability-of-adolescent-sleep-wake-behavior-on-free-but-not-school-days-a-long-term-twin-study
#7
A P Inderkum, L Tarokh
Adolescence development is characterized by significant changes in sleep biology. Despite an overall decline in sleep duration and a delay in bedtime, significant inter-individual variation in sleep has been reported. The aim of the current study was to examine genetic and environmental influences on sleep in adolescence using long-term (6-month) actigraphy measurements, differentiating between school and free days. Sixteen monozygotic (MZ; n = 32) and 10 dizygotic (DZ; n = 20) twin pairs (mean age 12.8 ± 1...
January 10, 2018: Sleep
https://www.readbyqxmd.com/read/29327328/genetic-analysis-of-very-obese-children-with-autism-spectrum-disorder
#8
Herman D Cortes, Rachel Wevrick
Autism spectrum disorder (ASD) is defined by the triad of deficits in social interactions, deficits in communication, and repetitive behaviors. Common co-morbidities in syndromic forms of ASD include intellectual disability, seizures, and obesity. We asked whether very obese children with ASD had different behavioral, physical and genetic characteristics compared to children with ASD who were not obese. We found that very obese children with ASD had significantly poorer scores on standardized behavioral tests...
January 11, 2018: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/29325627/epigenetic-mechanisms-underlying-nervous-system-diseases
#9
Irfan A Qureshi, Mark F Mehler
Epigenetic mechanisms act as control systems for modulating genomic structure and activity in response to evolving profiles of cell-extrinsic, cell-cell, and cell-intrinsic signals. These dynamic processes are responsible for mediating cell- and tissue-specific gene expression and function and gene-gene and gene-environmental interactions. The major epigenetic mechanisms include DNA methylation and hydroxymethylation; histone protein posttranslational modifications, nucleosome remodeling/repositioning, and higher-order chromatin reorganization; noncoding RNA regulation; and RNA editing...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325621/genetics-of-autism-spectrum-disorder
#10
Gokul Ramaswami, Daniel H Geschwind
Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder characterized by impaired social interaction and stereotyped behaviors. ASD has a strong and complex genetic component, with multiple familial inheritance patterns and an estimate of up to 1000 genes potentially implicated. Over the past decade, genomic technologies have enabled rapid progress in the identification of risk genes for ASD. In this chapter, we review the delineation of ASD disease genes starting from traditional genetic studies such as linkage and association, and then focusing on more recent studies utilizing genomic technologies, such as high-throughput genotyping and exome sequencing...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325451/expression-of-sestrin-genes-in-radiotherapy-for-prostate-cancer-and-its-association-with-fatigue-a-proof-of-concept-study
#11
Velda J Gonzalez, Farnoosh Abbas-Aghababazadeh, Brooke L Fridley, Tomar Ghansah, Leorey N Saligan
Genetic factors that influence inflammation and energy production/expenditure in cells may affect patient outcomes following treatment with external beam radiation therapy (EBRT). Sestrins, stress-inducible genes with antioxidant properties, have recently been implicated in several behaviors including fatigue. This proof-of-concept study explored whether the sestrin family of genes ( SESN1, SESN2, and SESN3) were differentially expressed from baseline to the midpoint of EBRT in a sample of 26 Puerto Rican men with nonmetastatic prostate cancer...
January 1, 2018: Biological Research for Nursing
https://www.readbyqxmd.com/read/29324475/bilateral-cochlear-implants-maximizing-expected-outcomes
#12
Kate E Willis, Nathan J Blum, Stephanie A Waryasz, Marilyn Augustyn
Sonia is a 4 1/12-year-old girl with Waardenburg syndrome and bilateral sensorineural hearing loss who had bilateral cochlear implants at 2 7/12 years of age. She is referred to Developmental-Behavioral Pediatrics by her speech/language pathologist because of concerns that her language skills are not progressing as expected after the cochlear implant. At the time of the implant, she communicated using approximately 20 signs and 1 spoken word (mama). At the time of the evaluation (18 months after the implant) she had approximately 70 spoken words (English and Spanish) and innumerable signs that she used to communicate...
January 10, 2018: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/29324469/parafibromin-deficient-hpt-jt-type-cdc73-mutated-parathyroid-tumors-demonstrate-distinctive-morphologic-features
#13
Anthony J Gill, Grace Lim, Veronica K Y Cheung, Juliana Andrici, Joanna L Perry-Keene, Julie Paik, Loretta Sioson, Adele Clarkson, Amy Sheen, Catherine Luxford, Marianne S Elston, Goswin Y Meyer-Rochow, M Teresa Nano, Schelto Kruijff, Anton F Engelsman, Mark Sywak, Stanley B Sidhu, Leigh W Delbridge, Bruce G Robinson, Deborah J Marsh, Christopher W Toon, Angela Chou, Roderick J Clifton-Bligh
The gene CDC73 (previously known as HRPT2) encodes the protein parafibromin. Biallelic mutation of CDC73 is strongly associated with malignancy in parathyroid tumors. Heterozygous germline mutations cause hyperparathyroidism jaw tumor syndrome,which is associated with a high life-time risk of parathyroid carcinoma. Therefore loss of parafibromin expression by immunohistochemistry may triage genetic testing for hyperparathyroidism jaw tumor syndrome and be associated with malignant behavior in atypical parathyroid tumors...
January 10, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29324289/phylogenetic-analysis-reveals-three-distinct-epidemiological-profiles-in-dutch-and-flemish-blood-donors-with-hepatitis-b-virus-infection
#14
Thijs J van de Laar, Véronique A Van Gaever, Peter van Swieten, An Muylaert, Veerle Compernolle, Hans L Zaaijer
During 2006-2016, hepatitis B virus (HBV) was detected in nearly 400 blood donors in the Netherlands and Flanders. Donor demographics and self-reported risk factors as disclosed during the donor exit interview were compared to HBV phylogenies of donor and reference sequences. First-time donors with chronic HBV-infection were often immigrants (67%) infected with genetically highly diverse strains of genotypes A (32%), B (8%), C (6%), D (53%) and E to H (1%). Each subtype was strongly associated with donor ethnicity...
January 8, 2018: Virology
https://www.readbyqxmd.com/read/29324046/gustatory-processing-in-drosophila-melanogaster
#15
Kristin Scott
The ability to identify nutrient-rich food and avoid toxic substances is essential for an animal's survival. Although olfaction and vision contribute to food detection, the gustatory system acts as a final checkpoint control for food acceptance or rejection. The vinegar fly Drosophila melanogaster tastes many of the same stimuli as mammals and provides an excellent model system for comparative studies of taste detection. The relative simplicity of the fly brain and behaviors, along with the molecular genetic and functional approaches available in this system, allow the examination of gustatory neural circuits from sensory input to motor output...
January 7, 2018: Annual Review of Entomology
https://www.readbyqxmd.com/read/29323043/neural-computational-modeling-reveals-a-major-role-of-corticospinal-gating-of-central-oscillations-in-the-generation-of-essential-tremor
#16
Hong-En Qu, Chuanxin M Niu, Si Li, Man-Zhao Hao, Zi-Xiang Hu, Qing Xie, Ning Lan
Essential tremor, also referred to as familial tremor, is an autosomal dominant genetic disease and the most common movement disorder. It typically involves a postural and motor tremor of the hands, head or other part of the body. Essential tremor is driven by a central oscillation signal in the brain. However, the corticospinal mechanisms involved in the generation of essential tremor are unclear. Therefore, in this study, we used a neural computational model that includes both monosynaptic and multisynaptic corticospinal pathways interacting with a propriospinal neuronal network...
December 2017: Neural Regeneration Research
https://www.readbyqxmd.com/read/29321890/nature-versus-nurture-consequences-of-short-captivity-in-early-stages
#17
Jose L Horreo, America G Valiente, Alba Ardura, Aida Blanco, Claudia Garcia-Gonzalez, Eva Garcia-Vazquez
Biological changes occurring as a consequence of domestication and/or captivity are not still deeply known. In Atlantic salmon (Salmo salar), endangered (Southern Europe) populations are enhanced by supportive breeding, which involves only 6 months of captive rearing following artificial spawning of wild-collected adults. In this work, we assess whether several fitness-correlated life-history traits (migratory behavior, straying rate, age at maturity, and growth) are affected by early exposure to the captive environment within a generation, before reproduction thus before genetic selection...
January 2018: Ecology and Evolution
https://www.readbyqxmd.com/read/29321841/reversed-gender-ratio-of-autism-spectrum-disorder-in-smith-magenis-syndrome
#18
Heidi Elisabeth Nag, Ann Nordgren, Britt-Marie Anderlid, Terje Nærland
Background: A substantial amount of research shows a higher rate of autistic type of problems in males compared to females. The 4:1 male to female ratio is one of the most consistent findings in autism spectrum disorder (ASD).Lately, the interest in studying ASD in genetic disorders has increased, and research has shown a higher prevalence of ASD in some genetic disorders than in the general population.Smith-Magenis syndrome (SMS) is a rare and complex genetic syndrome caused by an interstitial deletion of chromosome 17p11...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29321524/phenotypic-divergence-despite-low-genetic-differentiation-in-house-sparrow-populations
#19
Shachar Ben Cohen, Roi Dor
Studying patterns of phenotypic variation among populations can shed light on the drivers of evolutionary processes. The house sparrow (Passer domesticus) is one of the world's most ubiquitous bird species, as well as a successful invader. We investigated phenotypic variation in house sparrow populations across a climatic gradient and in relation to a possible scenario of an invasion. We measured variation in morphological, coloration, and behavioral traits (exploratory behavior and neophobia) and compared it to the neutral genetic variation...
January 10, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29320575/azp-531-an-unacylated-ghrelin-analog-improves-food-related-behavior-in-patients-with-prader-willi-syndrome-a-randomized-placebo-controlled-trial
#20
Soraya Allas, Assumpta Caixàs, Christine Poitou, Muriel Coupaye, Denise Thuilleaux, Françoise Lorenzini, Gwenaëlle Diene, Antonino Crinò, Frédéric Illouz, Graziano Grugni, Diane Potvin, Sarah Bocchini, Thomas Delale, Thierry Abribat, Maithé Tauber
CONTEXT AND OBJECTIVE: Prader-Willi syndrome (PWS) is characterized by early-onset hyperphagia and increased circulating levels of the orexigenic Acylated Ghrelin (AG) hormone with a relative deficit of Unacylated Ghrelin (UAG). AZP-531, a first-in-class UAG analog, was shown to inhibit the orexigenic effect of AG in animals, to improve glycemic control and decrease body weight in humans. We aimed to investigate the safety and efficacy of AZP-531 in patients with PWS for whom no approved treatment for hyperphagia is currently available...
2018: PloS One
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