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Ilja Spellmann, Matthias A Reinhard, Diana Veverka, Peter Zill, Michael Obermeier, Sandra Dehning, Rebecca Schennach, Norbert Müller, Hans-Jürgen Möller, Michael Riedel, Richard Musil
Antipsychotics are effective in treating schizophrenia but may lead to a higher cardiovascular risk due to QTc prolongation. Besides drugs, genetic and clinical factors may contribute to QTc prolongation. The aim of this study is to examine the effect of candidate genes known for QTc prolongation and their interaction with common antipsychotics. Thus, 199 patients were genotyped for nine polymorphisms in KCNQ1, KCNH2, SCN5A, LOC10537879, LOC101927066, NOS1AP and NUBPL. QTc interval duration was measured before treatment and weekly for 5 weeks while being treated with risperidone, quetiapine, olanzapine, amisulpride, aripiprazole and haloperidol in monotherapy...
February 10, 2018: European Archives of Psychiatry and Clinical Neuroscience
Mirela Pelizaro Valeri, Guilherme Borges Dias, Valéria do Socorro Pereira, Gustavo Campos Silva Kuhn, Marta Svartman
Satellite DNAs (satDNAs) are major components of eukaryote genomes. However, because of their quick divergence, the evolutionary origin of a given satDNA family can rarely be determined. Herein we took advantage of available primate sequenced genomes to determine the origin of the CapA satDNA (approx. 1500 bp long monomers), first described in the tufted capuchin monkey Sapajus apella We show that CapA is an abundant satDNA in Platyrrhini, whereas in the genomes of most eutherian mammals, including humans, this sequence is present only as a single copy located within a large intron of the NOS1AP (nitric oxide synthase 1 adaptor protein) gene...
January 2018: Biology Letters
Liesl M Hendry, Venesa Sahibdeen, Ananyo Choudhury, Shane A Norris, Michèle Ramsay, Zané Lombard
BACKGROUND: Cardiovascular diseases (CVDs) are the leading cause of non-communicable disease deaths globally, with hypertension being a major risk factor contributing to CVDs. Blood pressure is a heritable trait, with relatively few genetic studies having been performed in Africans. This study aimed to identify genetic variants associated with variance in systolic (SBP) and diastolic (DBP) blood pressure in black South Africans. METHODS: Genotyping was performed using the Metabochip in a subset of participants (mixed sex; median age 17...
January 17, 2018: BMC Medical Genomics
Wan-Hung Lee, Li-Li Li, Aarti Chawla, Andy Hudmon, Yvonne Y Lai, Michael J Courtney, Andrea G Hohmann
Elevated N-methyl-D-aspartate receptor (NMDAR) activity is linked to central sensitization and chronic pain. However, NMDAR antagonists display limited therapeutic potential due to their adverse side effects. Novel approaches targeting the NR2B-PSD95-nNOS complex to disrupt signaling pathways downstream of NMDARs show efficacy in preclinical pain models. Here, we evaluated the involvement of interactions between neuronal nitric oxide synthase (nNOS) and the nitric oxide synthase 1 adaptor protein (NOS1AP) in pronociceptive signaling and neuropathic pain...
January 9, 2018: Pain
Raúl Méndez-Giráldez, Stephanie M Gogarten, Jennifer E Below, Jie Yao, Amanda A Seyerle, Heather M Highland, Charles Kooperberg, Elsayed Z Soliman, Jerome I Rotter, Kathleen F Kerr, Kelli K Ryckman, Kent D Taylor, Lauren E Petty, Sanjiv J Shah, Matthew P Conomos, Nona Sotoodehnia, Susan Cheng, Susan R Heckbert, Tamar Sofer, Xiuqing Guo, Eric A Whitsel, Henry J Lin, Craig L Hanis, Cathy C Laurie, Christy L Avery
QT interval prolongation is a heritable risk factor for ventricular arrhythmias and can predispose to sudden death. Most genome-wide association studies (GWAS) of QT were performed in European ancestral populations, leaving other groups uncharacterized. Herein we present the first QT GWAS of Hispanic/Latinos using data on 15,997 participants from four studies. Study-specific summary results of the association between 1000 Genomes Project (1000G) imputed SNPs and electrocardiographically measured QT were combined using fixed-effects meta-analysis...
December 6, 2017: Scientific Reports
Guoqin Hu, Chengqing Yang, Lei Zhao, Yong Fan, Qinyu Lv, Jing Zhao, Minghuan Zhu, Xiangqing Guo, Chenxi Bao, Ahong Xu, Yong Jie, Yaqing Jiang, Chen Zhang, Shunying Yu, Zuowei Wang, Zezhi Li, Zhenghui Yi
Although many major breakthrough had identificated potential susceptibility genes for schizophrenia, the aetiology of schizophrenia is still unknown. In the present study, we focused on the N-methyl-Daspartate receptors related genes nitric oxide synthase 1 adaptor gene (NOS1AP), disrupted in schizophrenia 1 gene (DISC1), d-amino acid oxidase activator gene (DAOA), and glycogen synthase kinase 3-beta gene (GSK3B). A family-based genetic association study (459 Han Chinese subjects in 153 nuclear families) using 3 single nucleotide polymorphisms in NOS1AP, 2 in DISC1, 1 in DAOA and 1 in GSK3B was conducted...
October 31, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
Ronfeng Zhang, Feifei Chen, Honjiu Yu, Lianjun Gao, Xiaomeng Yin, Yingxue Dong, Yanzong Yang, Yunlong Xia
Genome-wide association studies identified that the common T of rs12143842 in NOS1AP is associated with a QT/QTc interval in European populations. In this study, we test the association between the variation rs12143842 in NOS1AP and idiopathic ventricular tachycardia (IVT). A case-control association study examining rs12143842 was performed in two independent cohorts. The Northern cohort enrolled 277 IVT patients and 728 controls from a Chinese Gene ID population. The Central cohort enrolled 301 IVT patients and 803 matched controls...
August 21, 2017: Scientific Reports
Tim Kong, Joseph Feulefack, Kim Ruether, Fan Shen, Wang Zheng, Xing-Zhen Chen, Consolato Sergi
BACKGROUND AND AIMS: Reports of allele frequencies encoding ion channel, or their interacting proteins associated with sudden cardiac death among different ethnic groups have been inconsistent. Here, we aimed to characterize the distribution of these genes and their alleles among various ethnicities through meta-analysis. METHODS: We conducted a systematic review and meta-analysis to assess the mean allele frequencies of channelopathy genes SCN5A, NOS1AP, KCNH2, KCNE1, and KCNQ1 among the Black, Caucasian, Asian, and Hispanic ethnicities...
August 2017: Annals of Clinical and Laboratory Science
Annika Winbo, Eva-Lena Stattin, Ida Maria Westin, Anna Norberg, Johan Persson, Steen M Jensen, Annika Rydberg
BACKGROUND: Sequence variants in the NOS1AP gene have repeatedly been reported to influence QTc, albeit with moderate effect sizes. In the long QT syndrome (LQTS), this may contribute to the substantial QTc variance seen among carriers of identical pathogenic sequence variants. Here we assess three non-coding NOS1AP sequence variants, chosen for their previously reported strong association with QTc in normal and LQTS populations, for association with QTc in two Swedish LQT1 founder populations...
July 18, 2017: BMC Medical Genetics
Dagmar Bruenig, Charles P Morris, Divya Mehta, Wendy Harvey, Bruce Lawford, Ross McD Young, Joanne Voisey
The nitric oxide pathway in the hippocampus is involved in the biological stress response with detrimental consequences to cells and HPA axis feedback. Hippocampal atrophy and HPA axis feedback dysfunction are associated with posttraumatic stress disorder (PTSD). This study systematically investigates two genes of the nitric oxide pathway NOS1AP and NOS1 for a potential involvement in PTSD, comorbidities and resilience. A cohort of age and gender matched Vietnam veterans including trauma-exposed cases and controls was recruited and comprehensively assessed (n=299)...
August 20, 2017: Gene
Isaac K Sundar, Qiangzong Yin, Brian S Baier, Li Yan, Witold Mazur, Dongmei Li, Martha Susiarjo, Irfan Rahman
BACKGROUND: Epigenetics changes have been shown to be affected by cigarette smoking. Cigarette smoke (CS)-mediated DNA methylation can potentially affect several cellular and pathophysiological processes, acute exacerbations, and comorbidity in the lungs of patients with chronic obstructive pulmonary disease (COPD). We sought to determine whether genome-wide lung DNA methylation profiles of smokers and patients with COPD were significantly different from non-smokers. We isolated DNA from parenchymal lung tissues of patients including eight lifelong non-smokers, eight current smokers, and eight patients with COPD and analyzed the samples using Illumina's Infinium HumanMethylation450 BeadChip...
2017: Clinical Epigenetics
Li-Li Li, Katryna Cisek, Michael J Courtney
Neuronal nitric oxide synthase is widely regarded as an important contributor to a number of disorders of excitable tissues. Recently the adaptor protein NOS1AP has emerged as a contributor to several nNOS-linked conditions. As a consequence, the unexpectedly complex mechanisms of interaction between nNOS and its effector NOS1AP have become a particularly interesting topic from the point of view of both basic research and the potential for therapeutic applications. Here we demonstrate that the concerted action of two previously described motif regions contributing to the interaction of nNOS with NOS1AP, the ExF region and the PDZ ligand motif, efficiently excludes an alternate ligand from the nNOS-PDZ ligand-binding pocket...
2017: Frontiers in Molecular Neuroscience
Faisal Alzahrani, Leanne Clattenburg, Shanmugam Muruganandan, Martin Bullock, Kaitlyn MacIsaac, Michael Wigerius, Blair A Williams, M Elise R Graham, Matthew H Rigby, Jonathan R B Trites, S Mark Taylor, Christopher J Sinal, James P Fawcett, Robert D Hart
BACKGROUND: HPV infection causes cervical cancer, mediated in part by the degradation of Scribble via the HPV E6 oncoprotein. Recently, Scribble has been shown to be an important regulator of the Hippo signaling cascade. Deregulation of the Hippo pathway induces an abnormal cellular transformation, epithelial to mesenchymal transition, which promotes oncogenic progression. Given the recent rise in oropharyngeal HPV squamous cell carcinoma we sought to determine if Hippo signaling components are implicated in oropharyngeal squamous cell carcinoma...
February 22, 2017: Journal of Otolaryngology—Head & Neck Surgery
Christy L Avery, Christina L Wassel, Melissa A Richard, Heather M Highland, Stephanie Bien, Niha Zubair, Elsayed Z Soliman, Myriam Fornage, Suzette J Bielinski, Ran Tao, Amanda A Seyerle, Sanjiv J Shah, Donald M Lloyd-Jones, Steven Buyske, Jerome I Rotter, Wendy S Post, Stephen S Rich, Lucia A Hindorff, Janina M Jeff, Ralph V Shohet, Nona Sotoodehnia, Dan Yu Lin, Eric A Whitsel, Ulrike Peters, Christopher A Haiman, Dana C Crawford, Charles Kooperberg, Kari E North
BACKGROUND: The electrocardiographically measured QT interval (QT) is heritable and its prolongation is an established risk factor for several cardiovascular diseases. Yet, most QT genetic studies have been performed in European ancestral populations, possibly reducing their global relevance. OBJECTIVE: To leverage diversity and improve biological insight, we fine mapped 16 of the 35 previously identified QT loci (46%) in populations of African American (n = 12,410) and Hispanic/Latino (n = 14,837) ancestry...
April 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
Nicholas V Skladnev, Varshika Ganeshan, Ji Yeon Kim, Thomas J Burton, John Mitrofanis, Jonathan Stone, Daniel M Johnstone
Dietary saffron has shown promise as a neuroprotective intervention in clinical trials of retinal degeneration and dementia and in animal models of multiple CNS disorders, including Parkinson's disease. This therapeutic potential makes it important to define the relationship between dose and protection and the mechanisms involved. To explore these two issues, mice were pre-conditioned by providing an aqueous extract of saffron (0.01% w/v) as their drinking water for 2, 5 or 10 days before administration of the parkinsonian neurotoxin MPTP (50 mg/kg)...
December 2016: Journal of Neurochemistry
Iliana Tzimas, Jana-Christin Zingraf, Thomas Bajanowski, Micaela Poetsch
Drowning is one of the most frequent causes of accidental deaths worldwide, and still it remains a diagnosis of exclusion. Moreover, sudden cardiac deaths (SCD) or, if no actual cardiac alterations can be found, sudden unexplained deaths (SUD) represent a major group within mortality statistics as well. This leads to the assumption that there might be a general underlying cause for at least some cases of drowning, SCD, or SUD, for example, genetic aberrations in arrhythmia-associated genes. In the present study, blood samples of 171 corpses found in water (drowning, death after almost drowning, and unclear deaths) were analyzed in 19 known variants of the genes KCNQ1, KCNH2, KCNE1, SCN5A, and NOS1AP by minisequencing...
November 2016: International Journal of Legal Medicine
Jie Wang, Lei Jin, Yufu Zhu, Xiuping Zhou, Rutong Yu, Shangfeng Gao
Nitric Oxide Synthase 1 Adaptor Protein (NOS1AP, previously named CAPON) was firstly identified in rat brain in 1998. Structurally, NOS1AP consists of a phosphotyrosine-binding (PTB) domain at its N-terminal and a PDZ (PSD-95/discs-large/ZO-1) ligand motif at its C-terminal. The PTB domain of NOS1AP mediates the interactions with Dexras1, scribble, and synapsins. The PDZ ligand motif of NOS1AP binds to the PDZ domain of NOS1, the enzyme responsible for nitric oxide synthesis in the nervous system. NOS1AP is implicated in Dexras1 activation, neuronal nitric oxide production, Hippo pathway signaling, and dendritic development through the association with these important partners...
July 2016: Brain Research Bulletin
Koji Sugiyama, Tetsuo Sasano, Junko Kurokawa, Kentaro Takahashi, Tadashi Okamura, Norihiro Kato, Mitsuaki Isobe, Tetsushi Furukawa
Genome-wide association study has identified that the genetic variations at NOS1AP (neuronal nitric oxide synthase-1 adaptor protein) were associated with QT interval and sudden cardiac death (SCD). However, the mechanism linking a genetic variant of NOS1AP and SCD is poorly understood. We used Nos1ap knockout mice (Nos1ap(-/-)) to determine the involvement of Nos1ap in SCD, paying special attention to oxidative stress.At baseline, a surface electrocardiogram (ECG) and ultrasound echocardiography (UCG) showed no difference between Nos1ap(-/-) and wild-type (WT) mice...
May 25, 2016: International Heart Journal
Zhepei Wang, Jikuang Zhao, Jie Sun, Sheng Nie, Keqing Li, Feng Gao, Tiefeng Zhang, Shiwei Duan, Yazhen Di, Yi Huang, Xiang Gao
The goal of this study was to investigate the contribution of NOS1AP-promoter DNA methylation to the risk of intracranial aneurysm (IA) and brain arteriovenous malformation (BAVM) in a Han Chinese population. A total of 48 patients with IAs, 22 patients with BAVMs, and 26 control individuals were enrolled in the study. DNA methylation was tested using bisulfite pyrosequencing technology. We detected significantly higher DNA methylation levels in BAVM patients than in IA patients based on the multiple testing correction (CpG4-5 methylation: 5...
May 16, 2016: Neuroscience Letters
Niek Verweij, Irene Mateo Leach, Aaron Isaacs, Dan E Arking, Joshua C Bis, Tune H Pers, Marten E Van Den Berg, Leo-Pekka Lyytikäinen, Phil Barnett, Xinchen Wang, Elsayed Z Soliman, Cornelia M Van Duijn, Mika Kähönen, Dirk J Van Veldhuisen, Jan A Kors, Olli T Raitakari, Claudia T Silva, Terho Lehtimäki, Hans L Hillege, Joel N Hirschhorn, Laurie A Boyer, Wiek H Van Gilst, Alvaro Alonso, Nona Sotoodehnia, Mark Eijgelsheim, Rudolf A De Boer, Paul I W De Bakker, Lude Franke, Pim Van Der Harst
The ST-segment and adjacent T-wave (ST-T wave) amplitudes of the electrocardiogram are quantitative characteristics of cardiac repolarization. Repolarization abnormalities have been linked to ventricular arrhythmias and sudden cardiac death. We performed the first genome-wide association meta-analysis of ST-T-wave amplitudes in up to 37 977 individuals identifying 71 robust genotype-phenotype associations clustered within 28 independent loci. Fifty-four genes were prioritized as candidates underlying the phenotypes, including genes with established roles in the cardiac repolarization phase (SCN5A/SCN10A, KCND3, KCNB1, NOS1AP and HEY2) and others with as yet undefined cardiac function...
May 15, 2016: Human Molecular Genetics
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