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https://www.readbyqxmd.com/read/27923235/association-of-the-cholinergic-muscarinic-m2-receptor-with-autonomic-nervous-system-activity-in-patients-with-schizophrenia-on-high-dose-antipsychotics
#1
Masatoshi Miyauchi, Ikuko Kishida, Akira Suda, Yohko Shiraishi, Saki Hattori, Mami Fujibayashi, Masataka Taguri, Chie Ishii, Norio Ishii, Toshio Moritani, Yoshio Hirayasu
BACKGROUND: Patients with schizophrenia have abnormal autonomic nervous system (ANS) activity compared with the general population. One reason for this difference is the muscarinic affinity for antipsychotic drugs; therefore, single nucleotide polymorphisms (SNPs) of the muscarinic receptor gene influence this ANS dysfunction. This study sought to determine the effect of SNPs of the cholinergic muscarinic receptor (CHRM) gene on ANS activity in patients with schizophrenia receiving antipsychotic drugs...
December 7, 2016: Neuropsychobiology
https://www.readbyqxmd.com/read/27923225/integrin-%C3%AE-iib%C3%AE-3-dependent-erk-signaling-is-regulated-by-src-and-rho-kinases-in-both-leu33-and-pro33-polymorphic-isoforms
#2
Khon C Huynh, Thi-Hiep Nguyen, Dinh Chuong Pham, Huong T T Nguyen, Toi Van Vo, Marianna Gyenes, Volker R Stoldt
Platelet integrin αIIbβ3 possesses a Leu/Pro polymorphism at residue 33 (Leu33/HPA-1a or Pro33/HPA-1b). The Pro33 isoform has been suggested to exhibit prothrombotic features. αIIbβ3-expressing CHO (Chinese hamster ovary) cells on immobilized fibrinogen show activation of the MAP kinase family member ERK2, with an enhanced ERK2 activity in Pro33 cells compared to Leu33 cells. In our present work, we examined how the Leu/Pro polymorphism modulates the ERK2 activation stimulated by 2 differently triggered outside-in signalings...
December 7, 2016: Acta Haematologica
https://www.readbyqxmd.com/read/27922606/otto-a-new-strategy-to-extract-mental-disease-relevant-combinations-of-gwas-hits-from-individuals
#3
H Ehrenreich, M Mitjans, S Van der Auwera, T P Centeno, M Begemann, H J Grabe, S Bonn, K-A Nave
Despite high heritability of schizophrenia, genome-wide association studies (GWAS) have not yet revealed distinct combinations of single-nucleotide polymorphisms (SNPs), relevant for mental disease-related, quantifiable behavioral phenotypes. Here we propose an individual-based model to use genome-wide significant markers for extracting first genetic signatures of such behavioral continua. 'OTTO' (old Germanic=heritage) marks an individual characterized by a prominent phenotype and a particular load of phenotype-associated risk SNPs derived from GWAS that likely contributed to the development of his personal mental illness...
December 6, 2016: Molecular Psychiatry
https://www.readbyqxmd.com/read/27922604/common-variants-on-2p16-1-6p22-1-and-10q24-32-are-associated-with-schizophrenia-in-han-chinese-population
#4
H Yu, H Yan, J Li, Z Li, X Zhang, Y Ma, L Mei, C Liu, L Cai, Q Wang, F Zhang, N Iwata, M Ikeda, L Wang, T Lu, M Li, H Xu, X Wu, B Liu, J Yang, K Li, L Lv, X Ma, C Wang, L Li, F Yang, T Jiang, Y Shi, T Li, D Zhang, W Yue
Many schizophrenia susceptibility loci have been identified through genome-wide association studies (GWASs) in European populations. However, until recently, schizophrenia GWASs in non-European populations were limited to small sample sizes and have yielded few loci associated with schizophrenia. To identify genetic risk variations for schizophrenia in the Han Chinese population, we performed a two-stage GWAS of schizophrenia comprising 4384 cases and 5770 controls, followed by independent replications of 13 single-nucleotide polymorphisms in an additional 4339 schizophrenia cases and 7043 controls of Han Chinese ancestry...
December 6, 2016: Molecular Psychiatry
https://www.readbyqxmd.com/read/27922550/a-novel-abcc6-haplotype-is-associated-with-azathioprine-drug-response-in-myasthenia-gravis
#5
Lara Colleoni, Barbara Galbardi, Claudia Barzago, Silvia Bonanno, Sara Franzi, Rita Frangiamore, Giorgia Camera, Maria Foti, Donatella Biancolini, Eleonora Canioni, Lorenzo Maggi, Carlo Antozzi, Renato Mantegazza, Pia Bernasconi, Dimos Kapetis
OBJECTIVE: We investigated the association of single nucleotide polymorphisms (SNPs) in drug-metabolizing enzymes and transporters (DMETs) with the response to azathioprine (AZA) in patients affected by myasthenia gravis (MG) to determine possible genotype-phenotype correlations. PATIENTS AND METHODS: Genomic DNA from 180 AZA-treated MG patients was screened through the Affymetrix DMET platform, which characterizes 1931 SNPs in 225 genes. The significant SNPs, identified to be involved in AZA response, were subsequently validated by allelic discrimination and direct sequencing...
December 2, 2016: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27922500/facioscapulohumeral-muscular-dystrophy
#6
Jeffrey M Statland, Rabi Tawil
PURPOSE OF REVIEW: This article describes the clinical characteristics, diagnosis, molecular pathogenesis, and treatment of facioscapulohumeral muscular dystrophy (FSHD). RECENT FINDINGS: FSHD comprises two genetically distinct types that converge on a common downstream pathway of the expression of the toxic protein DUX4. Approximately 95% of patients have FSHD type 1 (FSHD1), in which loss of DNA repetitive elements (D4Z4 repeats) in the subtelomeric region of chromosome 4q causes decreased methylation and epigenetic derepression of DUX4, a gene contained within each D4Z4 repeat...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922140/construction-and-function-of-a-highly-efficient-supramolecular-luminescent-system
#7
Yingjie Liu, Suqian Ma, Bin Xu, Wenjing Tian
Aggregation-induced emission (AIE) provides a new way of achieving highly efficient luminescent materials. In this contribution, the self-assembly behavior, molecular stacking structure and photophysical properties of two polymorphs of a supramolecular co-crystal (C1 and C2) are investigated. The block-like crystal C1, packed in segregated stacking with strong π-π interactions between the H and G molecules, shows weak green emission with a low efficiency (ΦF) of 2%. In comparison, the needle-like crystal C2, packed in segregated stacking with no obviously strong intermolecular interactions, shows bright yellow emission...
December 6, 2016: Faraday Discussions
https://www.readbyqxmd.com/read/27922085/diversity-of-major-urinary-proteins-mups-in-wild-house-mice
#8
Michaela Thoß, Viktoria Enk, Hans Yu, Ingrid Miller, Kenneth C Luzynski, Boglarka Balint, Steve Smith, Ebrahim Razzazi-Fazeli, Dustin J Penn
Major urinary proteins (MUPs) are often suggested to be highly polymorphic, and thereby provide unique chemical signatures used for individual and genetic kin recognition; however, studies on MUP variability have been lacking. We surveyed populations of wild house mice (Mus musculus musculus), and examined variation of MUP genes and proteins. We sequenced several Mup genes (9 to 11 loci) and unexpectedly found no inter-individual variation. We also found that microsatellite markers inside the MUP cluster show remarkably low levels of allelic diversity, and significantly lower than the diversity of markers flanking the cluster or other markers in the genome...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27922040/functional-urological-disorders-a-sensitized-defence-response-in-the-bladder-gut-brain-axis
#9
REVIEW
Carsten Leue, Joanna Kruimel, Desiree Vrijens, Adrian Masclee, Jim van Os, Gommert van Koeveringe
Functional urological and gastrointestinal disorders are interrelated and characterized by a chronic course and considerable treatment resistance. Urological disorders associated with a sizeable functional effect include overactive bladder (OAB), interstitial cystitis/bladder pain syndrome (IC/BPS), and chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS). Poor treatment outcomes might be attributable to untreated underlying psychological and psychiatric disorders, as the co-occurrence of functional urological and gastrointestinal disorders with mood and anxiety disorders is common...
December 6, 2016: Nature Reviews. Urology
https://www.readbyqxmd.com/read/27921411/association-of-cd46-ivs1-1724-c-g-single-nucleotide-polymorphism-in-iranian-women-with-unexplained-recurrent-spontaneous-abortion-ursa
#10
Shiva Abdi-Shayan, Amir Monfaredan, Zahra Moradi, Mehrangiz Rajaii Oskoui, Tohid Kazemi
There are several known and unknown factors for unexplained recurrent spontaneous abortion (URSA). Among them, complement regulatory protein CD46 plays a pivotal role in preventing uncontrolled activation of complement and successful continuation of pregnancy. We aimed in this study to investigate the possible association of CD46 IVS1-1724 C>G polymorphism with RSA in Iranian women. 141 women with RSA and 153 women with normal pregnancy were enrolled in this study. RSA was confirmed as the history of having at least three consecutive abortions without any known immunologic, pathologic and genetic reason...
August 2016: Iranian Journal of Allergy, Asthma, and Immunology
https://www.readbyqxmd.com/read/27921326/correlation-of-genetic-results-with-testicular-histology-hormones-and-sperm-retrieval-in-nonobstructive-azoospermia-patients-with-testis-biopsy
#11
W Liu, X Gao, G Ma, L Yan, T Chen, T Li, R-M Yu, J-L Ma
To investigate the frequency and types of genetic results in different testicular histology of patients with nonobstructive azoospermia (NOA), and correlated with hormones and sperm retrieval (SR), a retrospective study was conducted in 286 Chinese NOA patients who underwent testis biopsy and 100 age-matched fertile men as the control group. Chromosome karyotype analyses were performed by the peripheral blood chromosome G-band detection method. Screening of Y chromosome microdeletions of azoospermia factor (AZF) region was performed by polymerase chain reaction (PCR) amplification of 11 sequence-tagged sites (STS)...
December 6, 2016: Andrologia
https://www.readbyqxmd.com/read/27921029/nanoscale-structure-and-spectroscopic-probing-of-a%C3%AE-1-40-fibril-bundle-formation
#12
Katarzyna M Psonka-Antonczyk, Per Hammarström, Leif B G Johansson, Mikael Lindgren, Bjørn T Stokke, K Peter R Nilsson, Sofie Nyström
Amyloid plaques composed of fibrillar Amyloid-β (Aβ) are hallmarks of Alzheimer's disease. However, Aβ fibrils are morphologically heterogeneous. Conformation sensitive luminescent conjugated oligothiophenes (LCOs) are versatile tools for monitoring such fibril polymorphism in vivo and in vitro. Biophysical methods applied on in vitro generated Aβ fibrils, stained with LCOs with different binding and fluorescence properties, can be used to characterize the Aβ fibrillation in depth, far beyond that possible for in vivo generated amyloid plaques...
2016: Frontiers in Chemistry
https://www.readbyqxmd.com/read/27920924/crystal-structure-of-6-p-tol-yl-benzo-b-naphtho-2-3-d-thio-phene-and-of-an-ortho-rhom-bic-polymorph-of-7-phenyl-anthra-2-3-b-benzo-d-thio-phene
#13
S Gopinath, K Sethusankar, Helen Stoeckli-Evans, Muhamad Rafiq, Arasambattu K Mohanakrishnan
The title compounds, C23H16S, (I), and C26H16S, (II), are benzo-thio-phene derivatives in which the benzo-thio-phene moiety is fused with a naphthalene ring system in (I), and with an anthracene ring system in (II). In (I), the mean plane of the benzo-thio-phene ring system makes a dihedral angle of 2.28 (6)° with the naphthalene ring system, and a dihedral angle of 1.28 (6)° with the anthracene ring system in (II), showing that the fused units are essentially planar. In (I), the 4-methyl-benzene ring substituent makes a dihedral angle of 71...
September 1, 2016: Acta Crystallographica. Section E, Crystallographic Communications
https://www.readbyqxmd.com/read/27920918/two-forms-of-naphthalen-1-yl-boronic-acid
#14
Kayleigh Bemisderfer, Alexander Y Nazarenko
Two polymorphs of the title compound, C10H9BO2, were prepared by recystallization from different solvents at room temperature. Both forms demonstrate nearly identical mol-ecular structures with all naphthalene group atoms located in one plane and all boronic acid atoms in another: the dihedral angles between these planes are 39.88 (5) and 40.15 (5)° for the two asymmetric mol-ecules of the ortho-rhom-bic form and 40.60 (3)° for the single asymmetric mol-ecule in the monoclinic form. In each extended structure, mol-ecules form dimers, connected via two O-H⋯O hydrogen bonds...
September 1, 2016: Acta Crystallographica. Section E, Crystallographic Communications
https://www.readbyqxmd.com/read/27920889/lack-of-association-between-interleukin-12-gene-polymorphisms-and-recurrent-aphthous-stomatitis
#15
Isaac Firouze Moqadam, Shamsolmoulouk Najafi, Mahsa Mohammadzadeh, Alireza Zare Bidoki, Hila Yousefi, Elham Farhadi, Arghavan Tonekaboni, Ghasem Meighani, Mohsen Mohammadzadeh, Ali Akbar Amirzargar, Nima Rezaei
No abstract text is available yet for this article.
October 2016: Avicenna Journal of Medical Biotechnology
https://www.readbyqxmd.com/read/27920888/development-of-a-high-resolution-melting-analysis-method-for-cyp2c19-17-genotyping-in-healthy-volunteers
#16
Zahra Ghasemi, Mehrdad Hashemi, Mahsa Ejabati, Seyyed Meisam Ebrahimi, Hamidreza Kheiri Manjili, Ali Sharafi, Ali Ramazani
BACKGROUND: Genetic polymorphisms of drug metabolisms by cytochrome P450 (P450s) could affect drug response, attracting particular interest in the pharmacogenetics. Due to the importance of CYP2C19* 17 allele and its capability of super- fast metabolism and also lack of information about distribution of the alleles in Iranian population, this research aimed to use High Resolution Melting (HRM) method compared to PCR-RFLP for genotyping healthy Iranian population. METHODS: Blood samples were collected from 100 healthy Iranian volunteers...
October 2016: Avicenna Journal of Medical Biotechnology
https://www.readbyqxmd.com/read/27920797/genome-wide-association-study-for-identifying-loci-that-affect-fillet-yield-carcass-and-body-weight-traits-in-rainbow-trout-oncorhynchus-mykiss
#17
Dianelys Gonzalez-Pena, Guangtu Gao, Matthew Baranski, Thomas Moen, Beth M Cleveland, P Brett Kenney, Roger L Vallejo, Yniv Palti, Timothy D Leeds
Fillet yield (FY, %) is an economically-important trait in rainbow trout aquaculture that affects production efficiency. Despite that, FY has received little attention in breeding programs because it is difficult to measure on a large number of fish and cannot be directly measured on breeding candidates. The recent development of a high-density SNP array for rainbow trout has provided the needed tool for studying the underlying genetic architecture of this trait. A genome-wide association study (GWAS) was conducted for FY, body weight at 10 (BW10) and 13 (BW13) months post-hatching, head-off carcass weight (CAR), and fillet weight (FW) in a pedigreed rainbow trout population selectively bred for improved growth performance...
2016: Frontiers in Genetics
https://www.readbyqxmd.com/read/27920783/genomic-tools-in-pearl-millet-breeding-for-drought-tolerance-status-and-prospects
#18
REVIEW
Desalegn D Serba, Rattan S Yadav
Pearl millet [Penisetum glaucum (L) R. Br.] is a hardy cereal crop grown in the arid and semiarid tropics where other cereals are likely to fail to produce economic yields due to drought and heat stresses. Adaptive evolution, a form of natural selection shaped the crop to grow and yield satisfactorily with limited moisture supply or under periodic water deficits in the soil. Drought tolerance is a complex polygenic trait that various morphological and physiological responses are controlled by 100s of genes and significantly influenced by the environment...
2016: Frontiers in Plant Science
https://www.readbyqxmd.com/read/27920780/genome-enabled-prediction-models-for-yield-related-traits-in-chickpea
#19
Manish Roorkiwal, Abhishek Rathore, Roma R Das, Muneendra K Singh, Ankit Jain, Samineni Srinivasan, Pooran M Gaur, Bharadwaj Chellapilla, Shailesh Tripathi, Yongle Li, John M Hickey, Aaron Lorenz, Tim Sutton, Jose Crossa, Jean-Luc Jannink, Rajeev K Varshney
Genomic selection (GS) unlike marker-assisted backcrossing (MABC) predicts breeding values of lines using genome-wide marker profiling and allows selection of lines prior to field-phenotyping, thereby shortening the breeding cycle. A collection of 320 elite breeding lines was selected and phenotyped extensively for yield and yield related traits at two different locations (Delhi and Patancheru, India) during the crop seasons 2011-12 and 2012-13 under rainfed and irrigated conditions. In parallel, these lines were also genotyped using DArTseq platform to generate genotyping data for 3000 polymorphic markers...
2016: Frontiers in Plant Science
https://www.readbyqxmd.com/read/27920664/investigation-of-snp-rs2060546-immediately-upstream-to-ntn4-in-a-danish-gilles-de-la-tourette-syndrome-cohort
#20
Shanmukha S Padmanabhuni, Rayan Houssari, Ann-Louise Esserlind, Jes Olesen, Thomas M Werge, Thomas F Hansen, Birgitte Bertelsen, Fotis Tsetsos, Peristera Paschou, Zeynep Tümer
Gilles de la Tourette syndrome (GTS) is a neuropsychiatric disorder characterized by multiple motor and vocal tics. GTS is a complex disorder, with environmental factors and several genes involved. Although variations within a few genes such as AADAC, NRXN1, SLITRK1, HDC, and IMMP2L have been tentatively associated with GTS (in a small number of patients), the causative genes underlying GTS pathophysiology remain unknown. In a previous genome-wide association study (GWAS) a single nucleotide polymorphism (SNP, rs2060546) near the Netrin-4 (NTN4 - MIM 610401) gene was shown to be associated with GTS [odds ratio (OR) = 1...
2016: Frontiers in Neuroscience
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