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https://www.readbyqxmd.com/read/28801377/ethnic-differences-in-genetic-ion-channelopathies-associated-with-sudden-cardiac-death-a-systematic-review-and-meta-analysis
#1
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
https://www.readbyqxmd.com/read/28720088/sex-is-a-moderator-of-the-association-between-nos1ap-sequence-variants-and-qtc-in-two-long-qt-syndrome-founder-populations-a-pedigree-based-measured-genotype-association-analysis
#2
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
https://www.readbyqxmd.com/read/28465168/nitric-oxide-pathway-genes-nos1ap-and-nos1-are-involved-in-ptsd-severity-depression-anxiety-stress-and-resilience
#3
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
https://www.readbyqxmd.com/read/28416970/dna-methylation-profiling-in-peripheral-lung-tissues-of-smokers-and-patients-with-copd
#4
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
https://www.readbyqxmd.com/read/28360833/efficient-binding-of-the-nos1ap-c-terminus-to-the-nnos-pdz-pocket-requires-the-concerted-action-of-the-pdz-ligand-motif-the-internal-exf-site-and-structural-integrity-of-an-independent-element
#5
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
https://www.readbyqxmd.com/read/28222762/the-hippo-component-yap-localizes-in-the-nucleus-of-human-papilloma-virus-positive-oropharyngeal-squamous-cell-carcinoma
#6
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
https://www.readbyqxmd.com/read/27988371/fine-mapping-of-qt-interval-regions-in-global-populations-refines-previously-identified-qt-interval-loci-and-identifies-signals-unique-to-african-and-hispanic-descent-populations
#7
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
https://www.readbyqxmd.com/read/27696408/widespread-brain-transcriptome-alterations-underlie-the-neuroprotective-actions-of-dietary-saffron
#8
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
https://www.readbyqxmd.com/read/27460199/the-role-of-known-variants-of-kcnq1-kcnh2-kcne1-scn5a-and-nos1ap-in-water-related-deaths
#9
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
https://www.readbyqxmd.com/read/27237129/research-progress-in-nos1ap-in-neurological-and-psychiatric-diseases
#10
REVIEW
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
https://www.readbyqxmd.com/read/27170476/oxidative-stress-induced-ventricular-arrhythmia-and-impairment-of-cardiac-function-in-nos1ap-deleted-mice
#11
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
https://www.readbyqxmd.com/read/27080431/sex-dichotomous-effects-of-nos1ap-promoter-dna-methylation-on-intracranial-aneurysm-and-brain-arteriovenous-malformation
#12
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
https://www.readbyqxmd.com/read/26962151/twenty-eight-genetic-loci-associated-with-st-t-wave-amplitudes-of-the-electrocardiogram
#13
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
https://www.readbyqxmd.com/read/26946266/dexras1-a-unique-ras-gtpase-interacts-with-nmda-receptor-activity-and-provides-a-novel-dissociation-between-anxiety-working-memory-and-sensory-gating
#14
G C Carlson, R E Lin, Y Chen, B R Brookshire, R S White, I Lucki, S J Siegel, S F Kim
Dexras1 is a novel GTPase that acts at a confluence of signaling mechanisms associated with psychiatric and neurological disease including NMDA receptors, NOS1AP and nNOS. Recent work has shown that Dexras1 mediates iron trafficking and NMDA-dependent neurodegeneration but a role for Dexras1 in normal brain function or psychiatric disease has not been studied. To test for such a role, mice with germline knockout (KO) of Dexras1 were assayed for behavioral abnormalities as well as changes in NMDA receptor subunit protein expression...
May 13, 2016: Neuroscience
https://www.readbyqxmd.com/read/26869880/overexpression-of-isoforms-of-nitric-oxide-synthase-1-adaptor-protein-encoded-by-a-risk-gene-for-schizophrenia-alters-actin-dynamics-and-synaptic-function
#15
Kristina Hernandez, Przemyslaw Swiatkowski, Mihir V Patel, Chen Liang, Natasha R Dudzinski, Linda M Brzustowicz, Bonnie L Firestein
Proper communication between neurons depends upon appropriate patterning of dendrites and correct distribution and structure of spines. Schizophrenia is a neuropsychiatric disorder characterized by alterations in dendrite branching and spine density. Nitric oxide synthase 1 adaptor protein (NOS1AP), a risk gene for schizophrenia, encodes proteins that are upregulated in the dorsolateral prefrontal cortex (DLPFC) of individuals with schizophrenia. To elucidate the effects of NOS1AP overexpression observed in individuals with schizophrenia, we investigated changes in actin dynamics and spine development when a long (NOS1AP-L) or short (NOS1AP-S) isoform of NOS1AP is overexpressed...
2016: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/26861996/interaction-of-nos1ap-with-the-nos-i-pdz-domain-implications-for-schizophrenia-related-alterations-in-dendritic-morphology
#16
Esin Candemir, Leonie Kollert, Lena Weißflog, Maria Geis, Antje Müller, Antonia M Post, Aet O'Leary, Jaanus Harro, Andreas Reif, Florian Freudenberg
Schizophrenia involves morphological brain changes, including changes in synaptic plasticity and altered dendritic development. Amongst the most promising candidate molecules for schizophrenia are neuronal nitric oxide (NO) synthase (NOS-I, also known as nNOS) and its adapter protein NOS1AP (previously named CAPON). However, the precise molecular mechanisms by which NOS-I and NOS1AP affect disease pathology remain to be resolved. Interestingly, overexpression of NOS1AP affects dendritic morphology, possibly through increased association with the NOS-I PDZ domain...
April 2016: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/26810132/genetic-markers-predicting-sulphonylurea-treatment-outcomes-in-type-2-diabetes-patients-current-evidence-and-challenges-for-clinical-implementation
#17
REVIEW
N K Loganadan, H Z Huri, S R Vethakkan, Z Hussein
The clinical response to sulphonylurea, an oral antidiabetic agent often used in combination with metformin to control blood glucose in type 2 diabetes (T2DM) patients, has been widely associated with a number of gene polymorphisms, particularly those involved in insulin release. We have reviewed the genetic markers of CYP2C9, ABCC8, KCNJ11, TCF7L2 (transcription factor 7-like 2), IRS-1 (insulin receptor substrate-1), CDKAL1, CDKN2A/2B, KCNQ1 and NOS1AP (nitric oxide synthase 1 adaptor protein) genes that predict treatment outcomes of sulphonylurea therapy...
2016: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/26597662/genetic-assessment-of-additional-endophenotypes-from-the-consortium-on-the-genetics-of-schizophrenia-family-study
#18
REVIEW
Tiffany A Greenwood, Laura C Lazzeroni, Monica E Calkins, Robert Freedman, Michael F Green, Raquel E Gur, Ruben C Gur, Gregory A Light, Keith H Nuechterlein, Ann Olincy, Allen D Radant, Larry J Seidman, Larry J Siever, Jeremy M Silverman, William S Stone, Catherine A Sugar, Neal R Swerdlow, Debby W Tsuang, Ming T Tsuang, Bruce I Turetsky, David L Braff
The Consortium on the Genetics of Schizophrenia Family Study (COGS-1) has previously reported our efforts to characterize the genetic architecture of 12 primary endophenotypes for schizophrenia. We now report the characterization of 13 additional measures derived from the same endophenotype test paradigms in the COGS-1 families. Nine of the measures were found to discriminate between schizophrenia patients and controls, were significantly heritable (31 to 62%), and were sufficiently independent of previously assessed endophenotypes, demonstrating utility as additional endophenotypes...
January 2016: Schizophrenia Research
https://www.readbyqxmd.com/read/26384012/association-of-nos1ap-variants-and-depression-phenotypes-in-schizophrenia
#19
Sern-Yih Cheah, Bruce R Lawford, Ross McD Young, C Phillip Morris, Joanne Voisey
BACKGROUND: The nitric oxide synthase 1 adaptor protein gene (NOS1AP) has previously been recognised as a schizophrenia susceptibility gene due to its role in glutamate neurotransmission. The gene is believed to inhibit nitric oxide (NO) production activated by the N-methyl-d-aspartate (NMDA) receptor and reduced NO levels have been observed in schizophrenia patients. However, association studies investigating NOS1AP and schizophrenia have produced inconsistent results, most likely because schizophrenia is a clinically heterogeneous disorder...
December 1, 2015: Journal of Affective Disorders
https://www.readbyqxmd.com/read/26332198/nos1ap-polymorphisms-modify-qtc-interval-duration-but-not-cardiac-arrest-risk-in-hypertrophic-cardiomyopathy
#20
Nikki Earle, Jodie Ingles, Richard D Bagnall, Belinda Gray, Jackie Crawford, Warren Smith, Andrew N Shelling, Donald R Love, Chris Semsarian, Jonathan R Skinner
INTRODUCTION: The accurate prediction of the risk of sudden cardiac death (SCD) in hypertrophic cardiomyopathy (HCM) remains elusive. Corrected QT interval (QTc) duration is a known risk factor in various cardiac conditions. Single nucleotide polymorphisms (SNPs) have been linked to QTc length, and to SCD. Here we investigated the role of 21 candidate SNPs in QTc duration and SCD events in patients with HCM. METHODS AND RESULTS: This HCM registry-based study included patients with an ECG, medical history, first SCD event data, and DNA available...
December 2015: Journal of Cardiovascular Electrophysiology
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