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CACNA1C

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https://www.readbyqxmd.com/read/28792954/variants-in-calcium-voltage-gated-channel-subunit-alpha1-c-gene-cacna1c-are-associated-with-sleep-latency-in-infants
#1
Katri Kantojärvi, Johanna Liuhanen, Outi Saarenpää-Heikkilä, Anna-Liisa Satomaa, Anneli Kylliäinen, Pirjo Pölkki, Julia Jaatela, Auli Toivola, Lili Milani, Sari-Leena Himanen, Tarja Porkka-Heiskanen, Juulia Paavonen, Tiina Paunio
Genetic variants in CACNA1C (calcium voltage-gated channel subunit alpha1 C) are associated with bipolar disorder and schizophrenia where sleep disturbances are common. In an experimental model, Cacna1c has been found to modulate the electrophysiological architecture of sleep. There are strong genetic influences for consolidation of sleep in infancy, but only a few studies have thus far researched the genetic factors underlying the process. We hypothesized that genetic variants in CACNA1C affect the regulation of sleep in early development...
2017: PloS One
https://www.readbyqxmd.com/read/28765577/cacna1c-polymorphisms-impact-cognitive-recovery-in-patients-with-bipolar-disorder-in-a-six-week-open-label-trial
#2
Kangguang Lin, Guiyun Xu, Lingling Shi, Weicong Lu, Lijie Guan, Huiyi Ouyang, Kun Chen, Yamei Dang, Libing Zhou, Kwok-Fai So
Cognitive impairments in bipolar patients deteriorate as the disorder progresses. Little is known about whether genetic risks impact cognitive recovery during the course from depression to remission. In this six-week open-label trial, we shed light on the impacts of six single nucleotide polymorphisms (SNPs) in the calcium voltage-gated channel subunit alpha1 C (CACNA1C) gene on cognitive recovery in 192 bipolar patients suffering a major depressive episode (MDE). The primary outcome measures were changes in a battery of neuropsychological tests following 6-week treatment...
August 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28753255/comprehensive-analysis-of-two-shank3-and-the-cacna1c-mouse-models-of-autism-spectrum-disorder
#3
Patricia Kabitzke, Daniela Brunner, Dansha He, Pamela A Fazio, Kimberly Cox, Jane Sutphen, Lucinda Thiede, Emily Sabath, Taleen Hanania, Vadim Alexandrov, Randall Rasmusson, Will Spooren, Anirvan Ghosh, Pamela Feliciano, Barbara Biemans, Marta Benedetti, Alice Luo Clayton
To expand, analyze, and extend published behavioral phenotypes relevant to autism spectrum disorder (ASD), we present a study of three ASD genetic mouse models: Feng's Shank3(tm2Gfng) model, hereafter Shank3/F, Jiang's Shank3(tm1Yhj) model, hereafter Shank3/J, and the Cacna1c deletion model. The Shank3 models mimick gene mutations associated with Phelan-McDermid Syndrome and the Cacna1c model recapitulates the deletion underlying Timothy syndrome. The current study utilizes both standard and novel behavioral tests with the same methodology used in our previously published companion report on the Cntnap2 null and 16p11...
July 28, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28751646/an-integrative-computational-approach-to-evaluate-genetic-markers-for-bipolar-disorder
#4
Yong Xu, Jun Wang, Shuquan Rao, McKenzie Ritter, Lydia C Manor, Robert Backer, Hongbao Cao, Zaohuo Cheng, Sha Liu, Yansong Liu, Lin Tian, Kunlun Dong, Yin Yao Shugart, Guoqiang Wang, Fuquan Zhang
Studies to date have reported hundreds of genes connected to bipolar disorder (BP). However, many studies identifying candidate genes have lacked replication, and their results have, at times, been inconsistent with one another. This paper, therefore, offers a computational workflow that can curate and evaluate BP-related genetic data. Our method integrated large-scale literature data and gene expression data that were acquired from both postmortem human brain regions (BP case/control: 45/50) and peripheral blood mononuclear cells (BP case/control: 193/593)...
July 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28740174/plakophilin-2-is-required-for-transcription-of-genes-that-control-calcium-cycling-and-cardiac-rhythm
#5
Marina Cerrone, Jerome Montnach, Xianming Lin, Yan-Ting Zhao, Mingliang Zhang, Esperanza Agullo-Pascual, Alejandra Leo-Macias, Francisco J Alvarado, Igor Dolgalev, Thomas V Karathanos, Kabir Malkani, Chantal J M Van Opbergen, Joanne J A van Bavel, Hua-Qian Yang, Carolina Vasquez, David Tester, Steven Fowler, Fengxia Liang, Eli Rothenberg, Adriana Heguy, Gregory E Morley, William A Coetzee, Natalia A Trayanova, Michael J Ackerman, Toon A B van Veen, Hector H Valdivia, Mario Delmar
Plakophilin-2 (PKP2) is a component of the desmosome and known for its role in cell-cell adhesion. Mutations in human PKP2 associate with a life-threatening arrhythmogenic cardiomyopathy, often of right ventricular predominance. Here, we use a range of state-of-the-art methods and a cardiomyocyte-specific, tamoxifen-activated, PKP2 knockout mouse to demonstrate that in addition to its role in cell adhesion, PKP2 is necessary to maintain transcription of genes that control intracellular calcium cycling. Lack of PKP2 reduces expression of Ryr2 (coding for Ryanodine Receptor 2), Ank2 (coding for Ankyrin-B), Cacna1c (coding for CaV1...
July 24, 2017: Nature Communications
https://www.readbyqxmd.com/read/28696432/cross-disorder-risk-gene-cacna1c-differentially-modulates-susceptibility-to-psychiatric-disorders-during-development-and-adulthood
#6
N Dedic, M L Pöhlmann, J S Richter, D Mehta, D Czamara, M W Metzger, J Dine, B T Bedenk, J Hartmann, K V Wagner, A Jurik, L M Almli, A Lori, S Moosmang, F Hofmann, C T Wotjak, G Rammes, M Eder, A Chen, K J Ressler, W Wurst, M V Schmidt, E B Binder, J M Deussing
Single-nucleotide polymorphisms (SNPs) in CACNA1C, the α1C subunit of the voltage-gated L-type calcium channel Cav1.2, rank among the most consistent and replicable genetics findings in psychiatry and have been associated with schizophrenia, bipolar disorder and major depression. However, genetic variants of complex diseases often only confer a marginal increase in disease risk, which is additionally influenced by the environment. Here we show that embryonic deletion of Cacna1c in forebrain glutamatergic neurons promotes the manifestation of endophenotypes related to psychiatric disorders including cognitive decline, impaired synaptic plasticity, reduced sociability, hyperactivity and increased anxiety...
July 11, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28659829/risk-conferring-glutamatergic-genes-and-brain-glutamate-plus-glutamine-in-schizophrenia
#7
Juan R Bustillo, Veena Patel, Thomas Jones, Rex Jung, Nattida Payaknait, Clifford Qualls, Jose M Canive, Jingyu Liu, Nora Irma Perrone-Bizzozero, Vince D Calhoun, Jessica A Turner, Charles Gasparovic
BACKGROUND: The proton magnetic resonance spectroscopy ((1)H-MRS) signals from glutamate (or the combined glutamate and glutamine signal-Glx) have been found to be greater in various brain regions in people with schizophrenia. Recently, the Psychiatric Genetics Consortium reported that several common single-nucleotide polymorphisms (SNPs) in glutamate-related genes confer increased risk of schizophrenia. Here, we examined the relationship between presence of these risk polymorphisms and brain Glx levels in schizophrenia...
2017: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/28616568/clinical-evaluation-of-r860q-semi-conservative-amino-acid-substitution-in-cacna1c-gene-in-association-with-long-qt-syndrome
#8
Usama Boles, Chris Simpson, Enes E Gul, Cortney Kiss, Andres Enriquez, Zongchao Jia, Adrián Baranchuk, Jagdeep S Walia
No abstract text is available yet for this article.
June 2017: IJC Heart & Vasculature
https://www.readbyqxmd.com/read/28607492/cognitive-characterization-of-schizophrenia-risk-variants-involved-in-synaptic-transmission-evidence-of-cacna1c-s-role-in-working-memory
#9
Donna Cosgrove, Omar Mothersill, Kimberley Kendall, Bettina Konte, Denise Harold, Ina Giegling, Annette Hartmann, Alex Richards, Kiran Mantripragada, Michael J Owen, Michael C O'Donovan, Michael Gill, Dan Rujescu, James Walters, Aiden Corvin, Derek W Morris, Gary Donohoe
With >100 common variants associated with schizophrenia risk, establishing their biological significance is a priority. We sought to establish cognitive effects of risk variants at loci implicated in synaptic transmission by (1) identifying GWAS schizophrenia variants whose associated gene function is related to synaptic transmission, and (2) testing for association between these and measures of neurocognitive function. We selected variants, reported in the largest GWAS to date, associated with genes involved in synaptic transmission...
June 13, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28604818/cacna1c-gene-regulates-behavioral-strategies-in-operant-rule-learning
#10
Georgia Koppe, Anne Stephanie Mallien, Stefan Berger, Dusan Bartsch, Peter Gass, Barbara Vollmayr, Daniel Durstewitz
Behavioral experiments are usually designed to tap into a specific cognitive function, but animals may solve a given task through a variety of different and individual behavioral strategies, some of them not foreseen by the experimenter. Animal learning may therefore be seen more as the process of selecting among, and adapting, potential behavioral policies, rather than mere strengthening of associative links. Calcium influx through high-voltage-gated Ca2+ channels is central to synaptic plasticity, and altered expression of Cav1...
June 2017: PLoS Biology
https://www.readbyqxmd.com/read/28593527/role-of-cacna1c-gene-polymorphisms-and-protein-expressions-in-the-pathogenesis-of-schizophrenia-a-case-control-study-in-a-chinese-population
#11
Sheng-Yu Zhang, Qiang Hu, Tao Tang, Chao Liu, Cheng-Chong Li, Xiao-Guang Yang, Yin-Yin Zang, Wei-Xiong Cai
The study aimed to investigate the correlations of CACNA1C genetic polymorphisms and protein expression with the pathogenesis of schizophrenia in a Chinese population. This research included 139 patients diagnosed with schizophrenia (case group) and 141 healthy volunteers (control group). Case and control samples were genotyped using denaturing high-performance liquid chromatography (DHPLC). Haplotypes of rs10848683, rs2238032, and rs2299661 were analyzed using the Shesis software. A mouse model of schizophrenia was established and assigned to test and blank groups...
August 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28584287/rescue-of-impaired-sociability-and-anxiety-like-behavior-in-adult-cacna1c-deficient-mice-by-pharmacologically-targeting-eif2%C3%AE
#12
Z D Kabir, A Che, D K Fischer, R C Rice, B K Rizzo, M Byrne, M J Glass, N V De Marco Garcia, A M Rajadhyaksha
CACNA1C, encoding the Cav1.2 subunit of L-type Ca(2+) channels, has emerged as one of the most prominent and highly replicable susceptibility genes for several neuropsychiatric disorders. Cav1.2 channels play a crucial role in calcium-mediated processes involved in brain development and neuronal function. Within the CACNA1C gene, disease-associated single-nucleotide polymorphisms have been associated with impaired social and cognitive processing and altered prefrontal cortical (PFC) structure and activity. These findings suggest that aberrant Cav1...
August 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28569435/the-new-kids-on-the-block-of-arrhythmogenic-disorders-short-qt-syndrome-and-early-repolarization
#13
REVIEW
Andrea Mazzanti, Katherine Underwood, Dmitriy Nevelev, Shanna Kofman, Silvia G Priori
Short QT syndrome (SQTS) is one of the rarest inheritable cardiac channelopathies, characterized by an accelerated cardiac repolarization, which is also the substrate for the development of life-threatening ventricular arrhythmias. Up to this date, fewer than 200 SQTS cases have been reported in the literature worldwide. Patients with SQTS may experience a cardiac arrest as early as in the neonatal period or as late as 80 years old. The cumulative probability of experiencing a cardiac arrest by the fifth decade of life approaches 40%, highlighting the importance of early recognition and management...
June 1, 2017: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/28546098/altered-long-non-coding-rna-expression-profile-in-rabbit-atria-with-atrial-fibrillation-tcons_00075467-modulates-atrial-electrical-remodeling-by-sponging-mir-328-to-regulate-cacna1c
#14
Zhan Li, Ximin Wang, Weizong Wang, Juanjuan Du, Jinqiu Wei, Yong Zhang, Jiangrong Wang, Yinglong Hou
Electrical remodeling has been reported to play a major role in the initiation and maintenance of atrial fibrillation (AF). Long non-coding RNAs (lncRNAs) have been increasingly recognized as contributors to the pathology of heart diseases. However, the roles and mechanisms of lncRNAs in electrical remodeling during AF remain unknown. In this study, the lncRNA expression profiles of right atria were investigated in AF and non-AF rabbit models by using RNA sequencing technique and validated using quantitative real-time polymerase chain reaction (qRT-PCR)...
May 22, 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/28525603/genome-wide-association-study-of-psychosis-proneness-in-the-finnish-population
#15
Alfredo Ortega-Alonso, Jesper Ekelund, Antti-Pekka Sarin, Jouko Miettunen, Juha Veijola, Marjo-Riitta Järvelin, William Hennah
The current study examined quantitative measures of psychosis proneness in a nonpsychotic population, in order to elucidate their underlying genetic architecture and to observe if there is any commonality to that already detected in the studies of individuals with overt psychotic conditions, such as schizophrenia and bipolar disorder. Heritability, univariate and multivariate genome-wide association (GWAs) tests, including a series of comprehensive gene-based association analyses, were developed in 4269 nonpsychotic persons participating in the Northern Finland Birth Cohort 1966 study with information on the following psychometric measures: Hypomanic Personality, Perceptual Aberration, Physical and Social Anhedonia (also known as Chapman's Schizotypia scales), and Schizoidia scale...
May 19, 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/28521147/a-pilot-study-of-differential-brain-activation-to-suicidal-means-and-dna-methylation-of-cacna1c-gene-in-suicidal-attempt-patients
#16
Young Jong Kim, Hae Jeong Park, Geon-Ho Jahng, Sang Min Lee, Won Sub Kang, Su Kang Kim, Tae Kim, Ah Rang Cho, Jin Kyung Park
Suicide is a serious public health problem. In this study, we investigated functional brain changes to novel visual stimuli of suicidal means, DNA methylation status, and the relationship between the two markers. 14 suicidal attempt patients (SAs) and 22 healthy controls were included. Pictures of facial expressions and suicidal means were shown to subjects during fMRI scanning. 11 CpG sites within transcription factor binding site of CACNA1C gene were selected. In knives (K) vs. natural landscape (NL) condition, left middle frontal gyrus (Brodmann's area, BA 6 and 46) and left inferior frontal gyrus (BA 9) were shown to be significantly higher brain activation in the SAs than the controls (p<0...
September 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28497380/from-gene-to-behavior-l-type-calcium-channel-mechanisms-underlying-neuropsychiatric-symptoms
#17
REVIEW
Zeeba D Kabir, Arlene Martínez-Rivera, Anjali M Rajadhyaksha
The L-type calcium channels (LTCCs) Cav1.2 and Cav1.3, encoded by the CACNA1C and CACNA1D genes, respectively, are important regulators of calcium influx into cells and are critical for normal brain development and plasticity. In humans, CACNA1C has emerged as one of the most widely reproduced and prominent candidate risk genes for a range of neuropsychiatric disorders, including bipolar disorder (BD), schizophrenia (SCZ), major depressive disorder, autism spectrum disorder, and attention deficit hyperactivity disorder...
July 2017: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/28494468/genes-involved-in-neurodevelopment-neuroplasticity-and-bipolar-disorder-cacna1c-chrna1-and-mapk1
#18
Marco Calabrò, Laura Mandelli, Concetta Crisafulli, Antonella Sidoti, Tae-Youn Jun, Soo-Jung Lee, Changsu Han, Ashwin A Patkar, Prakash S Masand, Chi-Un Pae, Alessandro Serretti
BACKGROUND: Bipolar disorder (BPD) is a common and severe mental disorder. The involvement of genetic factors in the pathophysiology of BPD is well known. In the present study, we tested the association of several single-nucleotide polymorphisms (SNPs) within 3 strong candidate genes (CACNA1C, CHRNA7, and MAPK1) with BPD. These genes are involved in monoamine-related pathways, as well as in dendrite development, neuronal survival, synaptic plasticity, and memory/learning. METHODS: One hundred and thirty-two subjects diagnosed with BPD and 326 healthy controls of Korean ancestry were genotyped for 40 SNPs within CACNA1C, CHRNA17, and MAPK1...
2016: Neuropsychobiology
https://www.readbyqxmd.com/read/28493952/a-mutation-in-the-cacna1c-gene-leads-to-early-repolarization-syndrome-with-incomplete-penetrance-a-chinese-family-study
#19
Xin Liu, Yang Shen, Jinyan Xie, Huihui Bao, Qing Cao, Rong Wan, Xiaoming Xu, Hui Zhou, Lin Huang, Zhenyan Xu, Wengen Zhu, Jinzhu Hu, Xiaoshu Cheng, Kui Hong
BACKGROUND: Early repolarization syndrome (ERS) may be a near-Mendelian or an oligogenic disease; however, no direct evidence has been provided to support this theory. METHODS AND RESULTS: We described a large Chinese family with nocturnal sudden cardiac death induced by ERS in most of the young male adults. One missense mutation (p.Q1916R) was found in the major subunit of the L-type calcium channel gene CACNA1C by the direct sequencing of candidate genes. A concomitant gain-of-function variant in the sodium channel gene SCN5A (p...
2017: PloS One
https://www.readbyqxmd.com/read/28490369/erratum-to-%C3%A2-novel-trigenic-cacna1c-des-mypn-mutations-in-a-family-of-hypertrophic-cardiomyopathy-with-early-repolarization-and-short-qt-syndrome
#20
Yanhong Chen, Hector Barajas-Martinez, Dongxiao Zhu, Xihui Wang, Chonghao Chen, Ruijuan Zhuang, Jingjing Shi, Xueming Wu, Yijia Tao, Weidong Jin, Xiaoyan Wang, Dan Hu
No abstract text is available yet for this article.
May 11, 2017: Journal of Translational Medicine
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