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https://www.readbyqxmd.com/read/28324702/the-cag-polymorphism-in-androgen-receptor-ar-gene-impacts-the-moral-permissibility-of-harmful-behavior-in-females
#1
Pingyuan Gong, Pengpeng Fang, Xing Yang, Wenzhao Ru, Bei Wang, Xiaocai Gao, Jinting Liu
The moral permissibility of harm is strikingly varied among individuals. In light of the connection between testosterone levels and utilitarian moral judgment, this study examined to what extent a CAG polymorphism in the androgen receptor gene, a genetic polymorphism with the ability to regulate testosterone function, contributes to individual differences in moral judgment. Four hundred and thirty-nine Chinese Han participants completed permissibility ratings of harm in moral dilemmas and moral transgression scenarios...
March 7, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/28324299/fatal-familial-insomnia-clinical-aspects-and-molecular-alterations
#2
REVIEW
Franc Llorens, Juan-José Zarranz, Andre Fischer, Inga Zerr, Isidro Ferrer
PURPOSE OF REVIEW: Fatal familiar insomnia (FFI) is an autosomal dominant inherited prion disease caused by D178N mutation in the prion protein gene (PRNP D178N) accompanied by the presence of a methionine at the codon 129 polymorphic site on the mutated allele. FFI is characterized by severe sleep disorder, dysautonomia, motor signs and abnormal behaviour together with primary atrophy of selected thalamic nuclei and inferior olives, and expansion to other brain regions with disease progression...
April 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28324063/dio2-thr92ala-reduces-deiodinase-2-activity-and-serum-t3-levels-in-thyroid-deficient-patients
#3
M G Castagna, M Dentice, S Cantara, R Ambrosio, F Maino, T Porcelli, C Marzocchi, C Garbi, F Pacini, D Salvatore
Context: A significant proportion of athyreotic LT4-treated patients experience hypothyroid-like symptoms. During LT4 replacement, levels of the active hormone triiodothyronine (T3) strictly depend on type-2-deiodinase (D2)-mediated activation of LT4. The Thr92Ala polymorphism and the 258 G/A in the DIO2 gene have been associated with various clinical conditions. Objectives: To investigate the effects of DIO2 polymorphisms in thyroid hormone homeostasis. Design: We compared the pre-surgical hormonal status of thyroidectomized LT4-treated patients who had a similar TSH level, to their post-surgery status, and analyzed their DIO2 genotype in a subgroup of 102/140 (72...
February 2, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28324009/whole-exome-sequencing-for-diagnosis-of-turner-syndrome-towards-next-generation-sequencing-and-newborn-screening
#4
David R Murdock, Frank X Donovan, Settara C Chandrasekharappa, Nicole Banks, Carolyn Bondy, Maximilian Muenke, Paul Kruszka
Context, Objectives: Turner syndrome (TS) is due to a complete or partial loss of an X chromosome in females and is not currently part of newborn screening. Diagnosis is often delayed resulting in missed crucial diagnostic and therapeutic opportunities. This study sought to determine if whole-exome sequencing (WES) as part of a potential newborn screening program could be used to diagnose TS. Design, Setting, Patients: Karyotype, chromosomal microarray, and WES were performed on women with TS (n=27) enrolled in the Personalized Genomic Research study at the National Institutes of Health...
January 24, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323906/flt-1-gene-polymorphisms-and-protein-expression-profile-in-rheumatoid-arthritis
#5
Agnieszka Paradowska-Gorycka, Anna Sowinska, Andrzej Pawlik, Damian Malinowski, Barbara Stypinska, Ewa Haladyj, Katarzyna Romanowska-Prochnicka, Marzena Olesinska
OBJECTIVES: Inflammation and angiogenesis are a significant element of pathogenesis in rheumatoid arthritis (RA). The FLT-1- triggering factor for production of proinflammatory cytokines-might contributes to inflammation in patients with RA. Association of the FLT-1 polymorphisms with different "angiogenic diseases" suggests that it may be a novel genetic risk factor also for RA. The aim of the study was to identify FLT-1 genetic variants and their possible association with sFLT-1 levels, susceptibility to and severity of RA...
2017: PloS One
https://www.readbyqxmd.com/read/28323863/discovery-of-genome-widesnps-by-rad-seqand-the-genetic-diversity-of-captive-hog-deer-axis-porcinus
#6
Wei Wang, Huijuan Yan, Jianqiu Yu, Jun Yi, Yu Qu, Maozhong Fu, Ang Chen, Hui Tang, Lili Niu
The hog deer (Axis porcinus) is a small deer whose natural habitat is the wet or moist tall grasslands in South and Southeast Asia. Wild populations have dramatically decreased in recent decades. While wild hog deer were recently acknowledged to be extinct in China, a few captive populations have been maintained. In the present study, we successfully employed the restriction-site-associated DNA sequencing (RAD-seq) technique to generate a genome-wide profile of single-nucleotide polymorphisms (SNPs) in the captive population of hog deer from Chengdu Zoo, China (N = 11)...
2017: PloS One
https://www.readbyqxmd.com/read/28323671/codeine-and-opioid-metabolism-implications-and-alternatives-for-pediatric-pain-management
#7
Vidya Chidambaran, Senthilkumar Sadhasivam, Mohamed Mahmoud
PURPOSE OF REVIEW: Use of perioperative opioids for surgical pain management of children presents clinical challenges because of concerns of serious adverse effects including life-threatening respiratory depression. This is especially true for children with history of obstructive sleep apnea. This review will explore current knowledge of clinically relevant factors and genetic polymorphisms that affect opioid metabolism and postoperative outcomes in children. RECENT FINDINGS: Within the past several years, an increasing number of case reports have illustrated clinically important respiratory depression, anoxic brain injuries and even death among children receiving appropriate weight-based dosages of codeine and other opioids for analgesia at home setting particularly following tonsillectomy...
March 18, 2017: Current Opinion in Anaesthesiology
https://www.readbyqxmd.com/read/28323631/search-for-unconventional-superconductors-among-the-y-i-te-i-sub-2-sub-si-sub-2-sub-compounds-i-te-i-cr-co-ni-rh-pd-pt
#8
Adam P Pikul, Malgorzata Samsel-Czekala, Grzegorz Chajewski, Tetiana Romanova, Alicja Hackemer, Roman Gorzelniak, Piotr Wiśniewski, Dariusz Kaczorowski
Motivated by the recent discovery of exotic superconductivity in YFe<sub>2</sub>Ge<sub>2</sub> we undertook reinvestigation of formation and physical properties of yttrium-based 1:2:2 silicides. Here we report on syntheses and crystal structures of the Y<i>TE</i><sub>2</sub>Si<sub>2</sub> compounds with <i>TE</i> = Cr, Co, Ni, Rh, Pd, and Pt, and their low-temperature physical properties measurements, supplemented by results of fully relativistic FPLO band structure calculations...
March 21, 2017: Journal of Physics. Condensed Matter: An Institute of Physics Journal
https://www.readbyqxmd.com/read/28323555/influence-of-dopamine-related-genes-on-neurobehavioral-recovery-after-traumatic-brain-injury-during-early-childhood
#9
Amery Treble-Barna, Shari L Wade, Lisa J Martin, Valentina Pilipenko, Keith Owen Yeates, H Gerry Taylor, Brad G Kurowski
The present study examined the association of dopamine-related genes with short- and long-term neurobehavioral recovery, as well as neurobehavioral recovery trajectories over time, in children who had sustained early childhood traumatic brain injuries (TBI) relative to children who had sustained orthopedic injuries (OI). Participants were recruited from a prospective, longitudinal study evaluating outcomes of children who sustained a TBI (n = 68) or OI (n = 72) between the ages of 3 and 7 years. Parents completed ratings of child executive function and behavior at the immediate post-acute period (0-3 months after injury); 6, 12, and 18 months after injury; and an average of 3...
March 21, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/28323456/stratosphere-conditions-inactivate-bacterial-endospores-from-a-mars-spacecraft-assembly-facility
#10
Christina L Khodadad, Gregory M Wong, Leandro M James, Prital J Thakrar, Michael A Lane, John A Catechis, David J Smith
Every spacecraft sent to Mars is allowed to land viable microbial bioburden, including hardy endospore-forming bacteria resistant to environmental extremes. Earth's stratosphere is severely cold, dry, irradiated, and oligotrophic; it can be used as a stand-in location for predicting how stowaway microbes might respond to the martian surface. We launched E-MIST, a high-altitude NASA balloon payload on 10 October 2015 carrying known quantities of viable Bacillus pumilus SAFR-032 (4.07 × 10(7) spores per sample), a radiation-tolerant strain collected from a spacecraft assembly facility...
March 21, 2017: Astrobiology
https://www.readbyqxmd.com/read/28320162/rnf213-rs112735431-polymorphism-in-intracranial-artery-steno-occlusive-disease-and-moyamoya-disease-in-koreans
#11
Min-Gyu Park, Jin-Hong Shin, Sang Weon Lee, Hae Rim Park, Kyung-Pil Park
BACKGROUND: The rs112735431 polymorphism of the RNF213, a susceptibility variant for moyamoya disease (MMD), may be associated with non-MMD intracranial artery steno-occlusive disease of non-MMD type (non-MMD ICAD) in Asian. We investigated whether the rs112735431 polymorphism of the RNF213 affect the development of non-MMD ICAD in Koreans compared to MMD and control group. METHODS: We included 31 patients with non-MMD ICAD, 25 patients with MMD, and 100 participants as control group...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28320150/additional-evidence-supports-association-of-common-genetic-variants-in-vti1a-and-etfa-with-increased-risk-of-glioma-susceptibility
#12
Ning Wang, Zhong Deng, Maode Wang, Ruichun Li, Gaofeng Xu, Gang Bao
BACKGROUND: VTI1A and ETFA were identified recently as susceptibility genes for non-glioblastoma (GBM) of glioma risk in European populations, but the genetic etiology and pathogenesis of glioma have not been fully elucidated. Here, we aimed to investigate whether common genetic variants in VTI1A and ETFA predispose Han Chinese individuals to glioma. METHODS: The association of thirteen common tagging single nucleotide polymorphisms (SNPs) in VTI1A and ETFA genes with glioma were assessed in a hospital-based case-control study including 473 non-GBM of glioma patients and 1046 cancer-free controls...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28320136/association-between-gene-polymorphism-and-depression-in-parkinson-s-disease-a-case-control-study
#13
Jinhua Zheng, Xinglong Yang, Quanzhen Zhao, Sijia Tian, Hongyan Huang, Yalan Chen, Yanming Xu
OBJECTIVE: To investigate possible associations of Parkinson's disease (PD) with polymorphism in depression-related genes and in the alpha-synuclein (SNCA) gene. METHODS: A consecutive series of patients with PD were divided into those with depression and those without it. Patients (330) were genotyped at four single-nucleotide polymorphisms (SNPs) in four genes previously associated with depression, as well as four SNPs in the PD-associated SNCA gene. RESULTS: Of 330 patients, 125 (37...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28319697/genetic-variants-of-the-kynurenine-3-monooxygenase-and-postpartum-depressive-symptoms-after-cesarean-section-in-chinese-women
#14
Sai-Ying Wang, Kai-Ming Duan, Xiao-Fang Tan, Ji-Ye Yin, Xiao-Yuan Mao, Wei Zheng, Chun-Yan Wang, Mi Yang, Cheng Peng, Hong-Hao Zhou, Zhao-Qian Liu
BACKGROUND: New conceptualizations of depression have emphasized the role of the kynurenine pathway (KP) in the pathogenesis of postpartum depressive symptoms (PDS). Kynurenine 3-monooxygenase (KMO) is a rate-limiting enzyme of the KP, where it catalyzes the conversion of kynurenine (KYN) to 3-hydroxykynurenine (3-HK). Previous work indicates that KMO is closely linked to the pathophysiology of depressive disorders. The purpose of this study is to investigate whether variations in the KMO gene affect PDS development after cesarean section...
March 10, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28319670/identification-of-candidate-genes-for-the-seed-coat-colour-change-in-a-brachypodium-distachyon-mutant-induced-by-gamma-radiation-using-whole-genome-re-sequencing
#15
Man Bo Lee, Dae Yeon Kim, Yong Weon Seo
Brachypodium distachyon has been proposed as a model plant for agriculturally important cereal crops such as wheat and barley. Seed coat colour change from brown-red to yellow was observed in a mutant line (142-3) of B. distachyon, which was induced by chronic gamma radiation. In addition, dwarf phenotypes were observed in each of the lines 142-3, 421-2, and 1376-1. In order to identify causal mutations for the seed coat colour change, the three mutant lines and the wild type were subjected to whole-genome re-sequencing...
March 20, 2017: Genome Génome / Conseil National de Recherches Canada
https://www.readbyqxmd.com/read/28319330/flap-endonuclease-1-rs174538-g-a-polymorphisms-are-associated-with-the-risk-of-esophageal-cancer-in-a-chinese-population
#16
Yonghua Sang, Lin Bo, Haiyong Gu, Wengtao Yang, Yongbing Chen
BACKGROUND: Esophageal cancer has a high mortality rate, particularly in Asia, and there are obvious racial differences in regard to incidence. The purpose of our study was to assess the genetic susceptibility of functional single nucleotide polymorphisms in flap endonuclease-1 (FEN1) in esophageal squamous cell carcinoma ESCC. METHODS: Clinical blood samples of 629 ESCC cases and 686 control samples were collected. The ligation detection reaction method was used to determine FEN 1 rs174538 G>A genotypes...
March 20, 2017: Thoracic Cancer
https://www.readbyqxmd.com/read/28319323/further-evidence-for-specific-ifih1-mutation-as-a-cause-of-singleton-merten-syndrome-with-phenotypic-heterogeneity
#17
Maria Pettersson, Birgitta Bergendal, Johanna Norderyd, Daniel Nilsson, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand
Singleton-Merten syndrome (MIM 182250) is an autosomal dominant inherited disorder characterized by early onset periodontitis, root resorption, osteopenia, osteoporosis, and aortic valve or thoracic aorta calcification. The disorder can have significant intrafamilial phenotypic variability. Here, we present a mother and daughter with Singleton-Merten syndrome harboring a previously described pathogenic missense mutation, c.2465G>A p.(Arg822Gln), in IFIH1 (interferon induced with helicase C domain 1), encoding MDA5 (Melanoma Differentiation-Associated protein 5)...
March 20, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28319202/evolving-notch-polyq-tracts-reveal-possible-solenoid-interference-elements
#18
Albert J Erives
Polyglutamine (polyQ) tracts in regulatory proteins are extremely polymorphic. As functional elements under selection for length, triplet repeats are prone to DNA replication slippage and indel mutations. Many polyQ tracts are also embedded within intrinsically disordered domains, which are less constrained, fast evolving, and difficult to characterize. To identify structural principles underlying polyQ tracts in disordered regulatory domains, here I analyze deep evolution of metazoan Notch polyQ tracts, which can generate alleles causing developmental and neurogenic defects...
2017: PloS One
https://www.readbyqxmd.com/read/28319116/quenched-hydrogen-deuterium-exchange-nmr-of-a-disease-relevant-a%C3%AE-1-42-amyloid-polymorph
#19
Marielle Aulikki Wälti, Julien Orts, Roland Riek
Alzheimer's disease is associated with the aggregation into amyloid fibrils of Aβ(1-42) and Aβ(1-40) peptides. Interestingly, these fibrils often do not obtain one single structure but rather show different morphologies, so-called polymorphs. Here, we compare quenched hydrogen-deuterium (H/D) exchange of a disease-relevant Aβ(1-42) fibril for which the 3D structure has been determined by solid-state NMR with H/D exchange previously determined on another structural polymorph. This comparison reveals secondary structural differences between the two polymorphs suggesting that the two polymorphisms can be classified as segmental polymorphs...
2017: PloS One
https://www.readbyqxmd.com/read/28318666/cardiac-sympathetic-denervation-100years-later-jonnesco-would-have-never-believed-it
#20
Peter J Schwartz, Gaetano M De Ferrari, Luigi Pugliese
One hundred years have elapsed since Thomas Jonnesco performed the first left cardiac sympathetic denervation (LCSD) in a patient with unmanageable angina pectoris and ventricular tachyarrhythmias, and the progress in the field has surpassed imagination. Here we will review the historic basis of cardiac sympathectomy for the management of life-threatening arrhythmias and will then discuss the often forgotten critical experimental studies that provided the rationale for the amazing growth of its role in clinical management...
March 8, 2017: International Journal of Cardiology
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