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https://www.readbyqxmd.com/read/28749628/circulating-25-hydroxy-vitamin-d-relative-to-vitamin-d-receptor-polymorphism-after-vitamin-d3-supplementation-in-breast-cancer-women-a-randomized-double-blind-controlled-clinical-trial
#1
Houra Mohseni, Seyed Ahmad Hosseini, Reza Amani, Alireza Ekrami, Ahmad Ahmadzadeh, Seyed Mahmoud Latifi
Objective: The influence of vitamin D receptor (VDR) genetic variation on serum 25-hydroxyvitamin D levels [25(OH)D] after vitamin D3 supplementation remains unclear. We aimed to investigate changes of 25(OH)D in a randomized, double-blind, placebo-controlled clinical trial, according to VDR genotype, after provision of vitamin D3 to breast cancer cases for a 2-month period. Methods: Participants were assigned to two treatment arms: placebo (n = 28) and vitamin D3 supplementation (n =28). The supplementation group received 50,000 IU of vitamin D every week for 2 months...
July 27, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/28749613/linked-selection-demography-and-the-evolution-of-correlated-genomic-landscapes-in-birds-and-beyond
#2
Reto Burri
Selection has a deep impact on the distribution of genetic diversity and population differentiation along the genome (the genomic landscapes of diversity and differentiation), reducing diversity and elevating differentiation not only at the sites it targets, but also at linked neutral sites. Fuelled by the high-throughput sequencing revolution, these genomic footprints of selection have been extensively exploited over the past decade with the aim to identify genomic regions involved in adaptation and speciation...
August 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28749611/morphology-ultrastructure-and-molecular-phylogeny-of-rozella-multimorpha-a-new-species-in-cryptomycota
#3
Peter M Letcher, Joyce E Longcore, Timothy Y James, Domingos S Leite, D Rabern Simmons, Martha J Powell
Increasing numbers of sequences of basal fungi from environmental DNA studies are being deposited in public databases. Many of these sequences remain unclassified below the phylum level because sequence information from identified species is sparse. Lack of basic biological knowledge due to a dearth of identified species is extreme in Cryptomycota, a new phylum widespread in the environment and phylogenetically basal within the fungal lineage. Consequently, we are attempting to fill gaps in the knowledge of Rozella, the best-known genus in this lineage...
July 27, 2017: Journal of Eukaryotic Microbiology
https://www.readbyqxmd.com/read/28749606/perceived-stress-is-associated-with-increased-rostral-middle-frontal-gyrus-cortical-thickness-a-family-based-and-discordant-sibling-investigation
#4
L J Michalski, C H Demers, D A A Baranger, D M Barch, M P Harms, G C Burgess, R Bogdan
BACKGROUND: Elevated stress perception and depression commonly co-occur, suggesting that they share a common neurobiology. Cortical thickness of the rostral middle frontal gyrus (RMFG), a region critical for executive function, has been associated with depression- and stress-related phenotypes. Here, we examined whether RMFG cortical thickness is associated with these phenotypes in a large family-based community sample. METHODS: RMFG cortical thickness was estimated using FreeSurfer among participants (n=879) who completed the ongoing Human Connectome Project...
July 27, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28749599/heat-induced-inflammation-and-its-role-in-esophageal-cancer
#5
REVIEW
Mohaddese Maghsudlu, Ehsan Farashahi Yazd
Esophageal cancer as the sixth common cause of cancer death in the world consists of different histological types with various incidence patterns. Among them, esophageal adenocarcinoma and esophageal squamous cell carcinoma are the most prevalent types which also have different causality, cell of origin and risk factors. Since epidemiological studies have announced consumption of hot substances as one of the major risk factors for squamous cell carcinoma, evaluating the effect of this external stress on esophagus cells seems desirable...
July 27, 2017: Journal of Digestive Diseases
https://www.readbyqxmd.com/read/28749586/patient-decisions-to-receive-secondary-pharmacogenomic-findings-and-development-of-a-multidisciplinary-practice-model-to-integrate-results-into-patient-care
#6
J Kevin Hicks, Amy Shealy, Allison Schreiber, Marissa Coleridge, Ryan Noss, Marvin Natowicz, Rocio Moran, Timothy Moss, Angelika Erwin, Charis Eng
Whole exome sequencing (WES) has the potential of identifying secondary findings that are predictive of poor pharmacotherapy outcomes. The purpose of this study was to investigate patients' wishes regarding the reporting of secondary pharmacogenomic findings. WES results (n = 106 patients) were retrospectively reviewed to determine the number of patients electing to receive secondary pharmacogenomic results. Phenotypes were assigned based on Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines...
July 27, 2017: Clinical and Translational Science
https://www.readbyqxmd.com/read/28749565/melatonin-suppresses-platelet-activation-and-function-against-cardiac-ischemia-reperfusion-injury-via-ppar%C3%AE-fundc1-mitophagy-pathways
#7
Hao Zhou, Dandan Li, Pingjun Zhu, Shunying Hu, Nan Hu, Sai Ma, Ying Zhang, Tianwen Han, Jun Ren, Feng Cao, Yundai Chen
Platelet activation is a major (patho-) physiological mechanism that underlies ischemia/reperfusion (I/R) injury. In this study, we explored the molecular signals for platelet hyperactivity and investigated the beneficial effects of melatonin on platelet reactivity in response to I/R injury. After reperfusion, peroxisome proliferator-activated receptor γ (PPARγ) was progressively downregulated in patients with acute myocardial infarction undergoing coronary artery bypass grafting (CABG) surgery and in mice with I/R injury model...
July 27, 2017: Journal of Pineal Research
https://www.readbyqxmd.com/read/28749478/molecular-autopsy-in-maternal-fetal-medicine
#8
Hanan E Shamseldin, Wesam Kurdi, Fatima Almusafri, Maha Alnemer, Alya Alkaff, Zeneb Babay, Amal Alhashem, Maha Tulbah, Nada Alsahan, Rubina Khan, Bahauddin Sallout, Elham Al Mardawi, Mohamed Zain Seidahmed, Niema Meriki, Yasser Alsaber, Alya Qari, Ola Khalifa, Wafaa Eyaid, Zuhair Rahbeeni, Ahmed Kurdi, Mais Hashem, Tarfa Alshidi, Eman Al-Obeid, Firdous Abdulwahab, Niema Ibrahim, Nour Ewida, Karen El-Akouri, Mariam Al Mulla, Tawfeg Ben-Omran, Matthias Pergande, Sebahattin Cirak, Saeed Al Tala, Ranad Shaheen, Eissa Faqeih, Fowzan S Alkuraya
PurposeThe application of genomic sequencing to investigate unexplained death during early human development, a form of lethality likely enriched for severe Mendelian disorders, has been limited.MethodsIn this study, we employed exome sequencing as a molecular autopsy tool in a cohort of 44 families with at least one death or lethal fetal malformation at any stage of in utero development. Where no DNA was available from the fetus, we performed molecular autopsy by proxy, i.e., through parental testing.ResultsPathogenic or likely pathogenic variants were identified in 22 families (50%), and variants of unknown significance were identified in further 15 families (34%)...
July 27, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28749477/mapping-the-genomic-landscape-of-inherited-retinal-disease-genes-prioritizes-genes-prone-to-coding-and-noncoding-copy-number-variations
#9
Kristof Van Schil, Sarah Naessens, Stijn Van de Sompele, Marjolein Carron, Alexander Aslanidis, Caroline Van Cauwenbergh, Anja Kathrin Mayer, Mattias Van Heetvelde, Miriam Bauwens, Hannah Verdin, Frauke Coppieters, Michael E Greenberg, Marty G Yang, Marcus Karlstetter, Thomas Langmann, Katleen De Preter, Susanne Kohl, Timothy J Cherry, Bart P Leroy, Elfride De Baere
PurposePart of the hidden genetic variation in heterogeneous genetic conditions such as inherited retinal diseases (IRDs) can be explained by copy-number variations (CNVs). Here, we explored the genomic landscape of IRD genes listed in RetNet to identify and prioritize those genes susceptible to CNV formation.MethodsRetNet genes underwent an assessment of genomic features and of CNV occurrence in the Database of Genomic Variants and literature. CNVs identified in an IRD cohort were characterized using targeted locus amplification (TLA) on extracted genomic DNA...
July 27, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28749476/the-wide-genetic-landscape-of-clinical-frontotemporal-dementia-systematic-combined-sequencing-of-121-consecutive-subjects
#10
Cornelis Blauwendraat, Carlo Wilke, Javier Simón-Sánchez, Iris E Jansen, Anika Reifschneider, Anja Capell, Christian Haass, Melissa Castillo-Lizardo, Saskia Biskup, Walter Maetzler, Patrizia Rizzu, Peter Heutink, Matthis Synofzik
PurposeTo define the genetic spectrum and relative gene frequencies underlying clinical frontotemporal dementia (FTD).MethodsWe investigated the frequencies and mutations in neurodegenerative disease genes in 121 consecutive FTD subjects using an unbiased, combined sequencing approach, complemented by cerebrospinal fluid Aβ1-42 and serum progranulin measurements. Subjects were screened for C9orf72 repeat expansions, GRN and MAPT mutations, and, if negative, mutations in other neurodegenerative disease genes, by whole-exome sequencing (WES) (n = 108), including WES-based copy-number variant (CNV) analysis...
July 27, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28749475/patient-care-standards-for-primary-mitochondrial-disease-a-consensus-statement-from-the-mitochondrial-medicine-society
#11
REVIEW
Sumit Parikh, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Irina Anselm, Catherine Brunel-Guitton, John Christodoulou, Bruce H Cohen, David Dimmock, Gregory M Enns, Marni J Falk, Annette Feigenbaum, Richard E Frye, Jaya Ganesh, David Griesemer, Richard Haas, Rita Horvath, Mark Korson, Michael C Kruer, Michelangelo Mancuso, Shana McCormack, Marie Josee Raboisson, Tyler Reimschisel, Ramona Salvarinova, Russell P Saneto, Fernando Scaglia, John Shoffner, Peter W Stacpoole, Carolyn M Sue, Mark Tarnopolsky, Clara Van Karnebeek, Lynne A Wolfe, Zarazuela Zolkipli Cunningham, Shamima Rahman, Patrick F Chinnery
The purpose of this statement is to provide consensus-based recommendations for optimal management and care for patients with primary mitochondrial disease. This statement is intended for physicians who are engaged in the diagnosis and management of these patients. Working group members were appointed by the Mitochondrial Medicine Society. The panel included members with several different areas of expertise. The panel members utilized surveys and the Delphi method to reach consensus. We anticipate that this statement will need to be updated as the field continues to evolve...
July 27, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28749474/racial-ethnic-differences-in-multiple-gene-sequencing-results-for-hereditary-cancer-risk
#12
Jennifer L Caswell-Jin, Tanya Gupta, Evan Hall, Iva M Petrovchich, Meredith A Mills, Kerry E Kingham, Rachel Koff, Nicolette M Chun, Peter Levonian, Alexandra P Lebensohn, James M Ford, Allison W Kurian
PurposeWe examined racial/ethnic differences in the usage and results of germ-line multiple-gene sequencing (MGS) panels to evaluate hereditary cancer risk.MethodsWe collected genetic testing results and clinical information from 1,483 patients who underwent MGS at Stanford University between 1 January 2013 and 31 December 2015.ResultsAsians and Hispanics presented for MGS at younger ages than whites (48 and 47 vs. 55; P = 5E-16 and 5E-14). Across all panels, the rate of pathogenic variants (15%) did not differ significantly between racial groups...
July 27, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28749473/slc39a8-deficiency-biochemical-correction-and-major-clinical-improvement-by-manganese-therapy
#13
Julien H Park, Max Hogrebe, Manfred Fobker, Renate Brackmann, Barbara Fiedler, Janine Reunert, Stephan Rust, Konstantinos Tsiakas, René Santer, Marianne Grüneberg, Thorsten Marquardt
PurposeSLC39A8 deficiency is a severe inborn error of metabolism that is caused by impaired function of manganese metabolism in humans. Mutations in SLC39A8 lead to impaired function of the manganese transporter ZIP8 and thus manganese deficiency. Due to the important role of Mn(2+) as a cofactor for a variety of enzymes, the resulting phenotype is complex and severe. The manganese-dependence of β-1,4-galactosyltransferases leads to secondary hypoglycosylation, making SLC39A8 deficiency both a disorder of trace element metabolism and a congenital disorder of glycosylation...
July 27, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28749451/characterization-of-two-historic-smallpox-specimens-from-a-czech-museum
#14
Petr Pajer, Jiri Dresler, Hana Kabíckova, Libor Písa, Pavel Aganov, Karel Fucik, Daniel Elleder, Tomas Hron, Vitezslav Kuzelka, Petr Velemínsky, Jana Klimentova, Alena Fucikova, Jaroslav Pejchal, Rita Hrabakova, Vladimir Benes, Tobias Rausch, Pavel Dundr, Alexander Pilin, Radomir Cabala, Martin Hubalek, Jan Stríbrny, Markus H Antwerpen, Hermann Meyer
Although smallpox has been known for centuries, the oldest available variola virus strains were isolated in the early 1940s. At that time, large regions of the world were already smallpox-free. Therefore, genetic information of these strains can represent only the very last fraction of a long evolutionary process. Based on the genomes of 48 strains, two clades are differentiated: Clade 1 includes variants of variola major, and clade 2 includes West African and variola minor (Alastrim) strains. Recently, the genome of an almost 400-year-old Lithuanian mummy was determined, which fell basal to all currently sequenced strains of variola virus on phylogenetic trees...
July 27, 2017: Viruses
https://www.readbyqxmd.com/read/28749435/allelic-complexity-in-long-qt-syndrome-a-family-case-study
#15
Alberto Zullo, Giulia Frisso, Nicola Detta, Berardo Sarubbi, Emanuele Romeo, Angela Cordella, Carlos G Vanoye, Raffaele Calabrò, Alfred L George, Francesco Salvatore
Congenital long QT syndrome (LQTS) is associated with high genetic and allelic heterogeneity. In some cases, more than one genetic variant is identified in the same (compound heterozygosity) or different (digenic heterozygosity) genes, and subjects with multiple pathogenic mutations may have a more severe disease. Standard-of-care clinical genetic testing for this and other arrhythmia susceptibility syndromes improves the identification of complex genotypes. Therefore, it is important to distinguish between pathogenic mutations and benign rare variants...
July 27, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28749395/comparative-study-of-clinical-features-of-patients-with-celiac-disease-those-with-concurrent-celiac-disease-type-1-diabetes-mellitus
#16
Sanjay Kumar Bhadada, Ashu Rastogi, Aakash Agarwal, Rashi Kochhar, Rakesh Kochhar, Anil Bhansali
BACKGROUND & OBJECTIVES: Celiac disease (CD) and type 1 diabetes mellitus (T1DM) share a common genetic locus and clinical manifestations. The present study was planned to compare clinical, biochemical and hormonal profiles of patients with CD and CD with T1DM. METHODS: Records of CD patients with age ≤20 yr, available anthropometric measurements, haematological, biochemical and hormonal workup with tissue transglutaminase IgA antibody and duodenal biopsy (Marsh grade) were screened...
March 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/28749367/genome-wide-association-study-of-susceptibility-to-particulate-matter-associated-qt-prolongation
#17
Rahul Gondalia, Christy L Avery, Melanie D Napier, Raúl Méndez-Giráldez, James D Stewart, Colleen M Sitlani, Yun Li, Kirk C Wilhelmsen, Qing Duan, Jeffrey Roach, Kari E North, Alexander P Reiner, Zhu-Ming Zhang, Lesley F Tinker, Jeff D Yanosky, Duanping Liao, Eric A Whitsel
BACKGROUND: Ambient particulate matter (PM) air pollution exposure has been associated with increases in QT interval duration (QT). However, innate susceptibility to PM-associated QT prolongation has not been characterized. OBJECTIVE: To characterize genetic susceptibility to PM-associated QT prolongation in a multi-racial/ethnic, genome-wide association study (GWAS). METHODS: Using repeated electrocardiograms (1986-2004), longitudinal data on in diameter (), and generalized estimating equations methods adapted for low-prevalence exposure, we estimated approximately interactions among nine Women's Health Initiative clinical trials and Atherosclerosis Risk in Communities Study subpopulations (), then combined subpopulation-specific results in a fixed-effects, inverse variance-weighted meta-analysis...
June 8, 2017: Environmental Health Perspectives
https://www.readbyqxmd.com/read/28749355/hardware-accelerator-for-the-multifractal-analysis-of-dna-sequences
#18
Jorge E Duarte-Sanchez, Jaime Velasco-Medina, Pedro A Moreno
The multifractal analysis has allowed to quantify the genetic variability and non-linear stability along the human genome sequence. It has some implications in explaining several genetic diseases given by some chromosome abnormalities, among other genetic particularities. The multifractal analysis of a genome is carried out by dividing the complete DNA sequence in smaller fragments and calculating the generalized dimension spectrum of each fragment using the chaos game representation and the box-counting method...
July 24, 2017: IEEE/ACM Transactions on Computational Biology and Bioinformatics
https://www.readbyqxmd.com/read/28749338/fast-two-photon-imaging-of-subcellular-voltage-dynamics-in-neuronal-tissue-with-genetically-encoded-indicators
#19
Simon Chamberland, Helen H Yang, Michael M Pan, Stephen W Evans, Sihui Guan, Mariya Chavarha, Ying Yang, Charleen Salesse, Haodi Wu, Joseph C Wu, Thomas R Clandinin, Katalin Toth, Michael Z Lin, François St-Pierre
Monitoring voltage dynamics in defined neurons deep in the brain is critical for unraveling the function of neuronal circuits, but is challenging due to the limited performance of existing tools. In particular, while genetically encoded voltage indicators have shown promise for optical detection of voltage transients, many indicators exhibit low sensitivity when imaged under two-photon illumination. Previous studies thus fell short of visualizing voltage dynamics in individual neurons in single trials. Here, we report ASAP2s, a novel voltage indicator with improved sensitivity...
July 27, 2017: ELife
https://www.readbyqxmd.com/read/28749329/in-vitro-efficacy-of-16-antimicrobial-drugs-against-a-large-collection-of-%C3%AE-lactamase-producing-isolates-of-extraintestinal-pathogenic-escherichia-coli-from-dogs-and-cats
#20
Takae Shimizu, Kazuki Harada, Yuzo Tsuyuki, Yui Kimura, Tadashi Miyamoto, Shingo Hatoya, Yoshiaki Hikasa
PURPOSE: The aim of this study was to assess the in vitro efficacy of candidate antimicrobials against extended-spectrum β-lactamase (ESBL)-producing isolates of extraintestinal pathogenic Escherichia coli (ExPEC) from companion animals. METHODOLOGY: A total of 90 ESBL-producing ExPEC isolates from dogs and cats were tested for susceptibility to 16 antimicrobials with the agar dilution method. We also identified the ESBLs and AmpC β-lactamases of these isolates with PCR and DNA sequencing...
July 28, 2017: Journal of Medical Microbiology
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