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CACNA1C

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https://www.readbyqxmd.com/read/27922594/cacna1c-in-the-prefrontal-cortex-regulates-depression-related-behaviors-via-redd1
#1
Zeeba D Kabir, Anni S Lee, Caitlin E Burgdorf, Delaney Fischer, Aditi M Rajadhyaksha, Ethan Mok, Bryant Rizzo, Richard C Rice, Kamalpreet Singh, Kristie T Ota, Danielle M Gerhard, Kathryn C Schierberl, Michael Glass, Ronald S Duman, Anjali M Rajadhyaksha
The CACNA1C gene that encodes the L-type Ca(2+) channel (LTCC) Cav1.2 subunit has emerged as a candidate risk gene for multiple neuropsychiatric disorders including bipolar disorder, major depressive disorder and schizophrenia, all marked with depression-related symptoms. Although cacna1c heterozygous (HET) mice have been previously reported to exhibit an antidepressant-like phenotype, the molecular and circuit-level dysfunction remains unknown. Here we report that viral vector-mediated deletion of cacna1c in the adult prefrontal cortex (PFC) of mice recapitulates the antidepressant-like effect observed in cacna1c HET mice using the sucrose preference test (SPT), the forced swim test (FST), and the tail suspension test (TST)...
December 6, 2016: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/27905406/differential-roles-for-l-type-calcium-channel-subtypes-in-alcohol-dependence
#2
Stefanie Uhrig, David Vandael, Andrea Marcantoni, Nina Dedic, Ainhoa Bilbao, Miriam A Vogt, Natalie Hirth, Laura Broccoli, Rick E Bernardi, Kai Schönig, Peter Gass, Dusan Bartsch, Rainer Spanagel, Jan M Deussing, Wolfgang H Sommer, Emilio Carbone, Anita C Hansson
It has previously been shown that the inhibition of L-type calcium channels (LTCCs) decreases alcohol consumption, although the contribution of the central LTCC subtypes Cav1.2 and Cav1.3 remains unknown. Here, we determined changes in Cav1.2 (Cacna1c) and Cav1.3 (Cacna1d) mRNA and protein expression in alcohol dependent rats during protracted abstinence and naïve controls using in situ hybridization and Western Blot analysis. Functional validation was obtained by electrophysiological recordings of calcium currents in dissociated hippocampal pyramidal neurons...
December 1, 2016: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/27900342/cacna1c-protecting-young-hippocampal-neurons-in-the-adult-brain
#3
Héctor De Jesús-Cortés, Anjali M Rajadhyaksha, Andrew A Pieper
Neuropsychiatric disease is the leading cause of disability in the United States, and fourth worldwide.(1,2) Not surprisingly, human genetic studies have revealed a common genetic predisposition for many forms of neuropsychiatric disease, potentially explaining why overlapping symptoms are commonly observed across multiple diagnostic categories. For example, the CACNA1C gene was recently identified in the largest human genome-wide association study to date as a risk loci held in common across 5 major forms of neuropsychiatric disease: bipolar disorder, schizophrenia, major depressive disorder (MDD), autism spectrum disorder and attention deficit-hyperactivity disorder...
2016: Neurogenesis (Austin, Tex.)
https://www.readbyqxmd.com/read/27897003/de-novo-mutations-in-autism-implicate-the-synaptic-elimination-network
#4
Guhan Ram Venkataraman, Chloe O'Connell, Fumiko Egawa, Dorna Kashef-Haghighi, Dennis P Wall
Autism has been shown to have a major genetic risk component; the architecture of documented autism in families has been over and again shown to be passed down for generations. While inherited risk plays an important role in the autistic nature of children, de novo (germline) mutations have also been implicated in autism risk. Here we find that autism de novo variants verified and published in the literature are Bonferroni-significantly enriched in a gene set implicated in synaptic elimination. Additionally, several of the genes in this synaptic elimination set that were enriched in protein-protein interactions (CACNA1C, SHANK2, SYNGAP1, NLGN3, NRXN1, and PTEN) have been previously confirmed as genes that confer risk for the disorder...
2016: Pacific Symposium on Biocomputing
https://www.readbyqxmd.com/read/27893184/ecg-alterations-associated-with-psychotropic-drug-use-and-cacna1c-gene-variants-in-three-independent-samples
#5
Chiara Fabbri, Giuseppe Boriani, Igor Diemberger, Maria Giulia Filippi, Gloria Ravegnini, Patrizia Hrelia, Alessandro Minarini, Diego Albani, Gianluigi Forloni, Sabrina Angelini, Alessandro Serretti
Several antipsychotics and antidepressants have been associated with QTc prolongation or other ECG alterations, but their impact is still debated and other risk factors are known to affect QTc. We investigated the effect of antidepressants and antipsychotics on QTc and other ECG intervals/waves in three samples. Two discovery samples (cross-sectional sample n=145 and prospective sample n=68, naturalistic treatment) and a replication prospective sample (CATIE, n=515, randomized treatment) were analysed. In both prospective samples, baseline/follow-up changes in ECG parameters were analysed in relation to the number of psychotropic drugs stratified according to their known cardiovascular risk...
November 28, 2016: Basic & Clinical Pharmacology & Toxicology
https://www.readbyqxmd.com/read/27881847/epigenetic-regulation-of-l-type-voltage-gated-ca-2-channels-in-mesenteric-arteries-of-aging-hypertensive-rats
#6
Jingwen Liao, Yanyan Zhang, Fang Ye, Lin Zhang, Yu Chen, Fanxing Zeng, Lijun Shi
Accumulating evidence has shown that epigenetic regulation is involved in hypertension and aging. L-type voltage-gated Ca(2+) channels (LTCCs), the dominant channels in vascular myocytes, greatly contribute to arteriole contraction and blood pressure (BP) control. We investigated the dynamic changes and epigenetic regulation of LTCC in the mesenteric arteries of aging hypertensive rats. LTCC function was evaluated by using microvascular rings and whole-cell patch-clamp in the mesenteric arteries of male Wistar-Kyoto rats and spontaneously hypertensive rats at established hypertension (3 month old) and an aging stage (16 month old), respectively...
November 24, 2016: Hypertension Research: Official Journal of the Japanese Society of Hypertension
https://www.readbyqxmd.com/read/27872214/effects-of-prolonged-anoxia-on-electrical-activity-of-the-heart-in-crucian-carp-carassius-carassius
#7
Elisa Tikkanen, Jaakko Haverinen, Stuart Egginton, Minna Hassinen, Matti Vornanen
The effects of sustained anoxia on cardiac electrical excitability were examined in the anoxia-tolerant Crucian carp (Carassius carassius). The electrocardiogram (ECG) and expression of excitation-contraction coupling genes were studied in fish acclimatised to normoxia in summer (+18°C) or winter (+2°C), and in winter fish after 1, 3 and 6 weeks of anoxia. Anoxia induced a sustained bradycardia from a heart rate of 10.3±0.77 to 4.1±0.29 bpm (P<0.05) after 5 weeks, and heart rate slowly recovered to control levels when oxygen was restored...
November 21, 2016: Journal of Experimental Biology
https://www.readbyqxmd.com/read/27868338/incomplete-timothy-syndrome-secondary-to-a-mosaic-mutation-of-the-cacna1c-gene-diagnosed-using-next-generation-sequencing
#8
Amandine Baurand, Sylvie Falcon-Eicher, Gabriel Laurent, Elisabeth Villain, Caroline Bonnet, Christel Thauvin-Robinet, Caroline Jacquot, Jean-Christophe Eicher, Jean-Baptiste Gourraud, Sébastien Schmitt, Stéphane Bézieau, Mathilde Giraud, Solenne Dumont, Paul Kuentz, Vincent Probst, Antoine Burguet, Florence Kyndt, Laurence Faivre
Autosomal dominant genetic diseases can occur de novo and in the form of somatic mosaicism, which can give rise to a less severe phenotype, and make diagnosis more difficult given the sensitivity limits of the methods used. We report the case of female child with a history of surgery for syndactyly of the hands and feet, who was admitted at 6 years of age to a pediatric intensive care unit following cardiac arrest. The electrocardiogram (ECG) showed a long QT interval that on occasions reached 500 ms. Despite the absence of facial dysmorphism and the presence of normal psychomotor development, a diagnosis of Timothy syndrome was made given the association of syndactyly and the ECG features...
November 21, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27857207/genomic-contributors-to-atrial-electroanatomical-remodeling-and-atrial-fibrillation-progression-pathway-enrichment-analysis-of-gwas-data
#9
Daniela Husser, Laura Ueberham, Borislav Dinov, Jedrzej Kosiuk, Jelena Kornej, Gerhard Hindricks, M Benjamin Shoemaker, Dan M Roden, Andreas Bollmann, Petra Büttner
In atrial fibrillation (AF), left atrial diameter (LAD) and low voltage area (LVA) are intermediate phenotypes that are associated with AF type and progression. In this study, we tested the hypothesis, that these phenotypes share common, genetically-determined pathways using pathway enrichment analysis of GWAS data. Samples from 660 patients with paroxysmal (n = 370) or persistent AF (n = 290) were genotyped for ~1,000,000 SNPs. SNPs found significantly associated with LAD, LVA or AF type were used for gene-based association tests in a systematic biological Knowledge-based mining system for Genome-wide Genetic studies (KGG)...
November 18, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27790829/the-impact-of-cacna1c-gene-and-its-epistasis-with-znf804a-on-white-matter-microstructure-in-health-schizophrenia-and-bipolar-disorder
#10
Emma-Jane Mallas, Francesco Carletti, Christopher A Chaddock, Sukhi Shergill, James Woolley, Marco M Picchioni, Colm McDonald, Timothea Toulopoulou, Eugenia Kravariti, Sridevi Kalidindi, Elvira Bramon, Robin Murray, Gareth J Barker, Diana P Prata
Genome-wide studies have identified allele A (adenine) of single nucleotide polymorphism (SNP) rs1006737 of the calcium-channel CACNA1C gene as a risk factor for both schizophrenia (SZ) and bipolar disorder (BD) as well as allele A for rs1344706 in the zinc-finger ZNF804A gene. These illnesses have also been associated with white matter abnormalities, reflected by reductions in fractional anisotropy (FA), measured using diffusion tensor imaging (DTI). We assessed the impact of the CACNA1C psychosis risk variant on FA in SZ, BD and health...
October 27, 2016: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/27744593/increasing-cacna1c-expression-in-placenta-containing-high-cd-level-an-implication-of-cd-toxicity
#11
Laorrat Phuapittayalert, Phisid Saenganantakarn, Wisa Supanpaiboon, Supaporn Cheunchoojit, Wiphawi Hipkaeo, Natthiya Sakulsak
Cadmium (Cd) has known to produce many adverse effects on organs including placenta. Many essential transporters are involved in Cd transport pathways such as DMT-1, ZIP as well as L-VDCC. Fourteen pregnant women participated and were divided into two groups: high and low Cd-exposed (H-Cd, L-Cd) groups on the basis of their residential areas, Cd concentrations in the blood (B-Cd), urine (U-Cd), and placenta (P-Cd). The results showed that the B-Cd and U-Cd were significantly increased in H-Cd group (p < 0...
October 15, 2016: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/27738493/pathway-analysis-of-bladder-cancer-genome-wide-association-study-identifies-novel-pathways-involved-in-bladder-cancer-development
#12
Meng Chen, Nathaniel Rothman, Yuanqing Ye, Jian Gu, Paul A Scheet, Maosheng Huang, David W Chang, Colin P Dinney, Debra T Silverman, Jonine D Figueroa, Stephen J Chanock, Xifeng Wu
Genome-wide association studies (GWAS) are designed to identify individual regions associated with cancer risk, but only explain a small fraction of the inherited variability. Alternative approach analyzing genetic variants within biological pathways has been proposed to discover networks of susceptibility genes with additional effects. The gene set enrichment analysis (GSEA) may complement and expand traditional GWAS analysis to identify novel genes and pathways associated with bladder cancer risk. We selected three GSEA methods: Gen-Gen, Aligator, and the SNP Ratio Test to evaluate cellular signaling pathways involved in bladder cancer susceptibility in a Texas GWAS population...
July 2016: Genes & Cancer
https://www.readbyqxmd.com/read/27707468/does-sudden-unexplained-nocturnal-death-syndrome-remain-the-autopsy-negative-disorder-a-gross-microscopic-and-molecular-autopsy-investigation-in-southern-china
#13
Liyong Zhang, David J Tester, Di Lang, Yili Chen, Jinxiang Zheng, Rui Gao, Robert F Corliss, Shuangbo Tang, John W Kyle, Chao Liu, Michael J Ackerman, Jonathan C Makielski, Jianding Cheng
OBJECTIVE: To look for previously unrecognized cardiac structural abnormalities and address the genetic cause for sudden unexplained nocturnal death syndrome (SUNDS). METHODS: Data for 148 SUNDS victims and 444 controls (matched 1:3 on sex, race, and age of death within 1 year) were collected from Sun Yat-sen University from January 1, 1998, to December 31, 2014, to search morphological changes. An additional 17 patients with Brugada syndrome (BrS) collected from January 1, 2006, to December 31, 2014, served as a comparative disease cohort...
November 2016: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/27688643/genetic-findings-are-challenging-the-symptom-based-diagnostic-classification-system-of-mental-disorders
#14
Chen Zhang
The present diagnostic classification of mental illnesses is primarily based on symptomatology. A recent cross-disorder genome-wide association study revealed that there were genetic similarities between multiple clinically defined diagnoses (including schizophrenia, bipolar disorder, depression, attention deficit hyperactivity disorder, and autism spectrum disorder) on regions of chromosomes 3p21 and 10q24 and single-nucleotide polymorphisms (SNPs) within two L-type voltage-gated calcium channel subunits of CACNA1C and CACNB2...
February 25, 2016: Shanghai Archives of Psychiatry
https://www.readbyqxmd.com/read/27683010/the-effects-of-a-genome-wide-supported-variant-in-the-cacna1c-gene-on-cortical-morphology-in-schizophrenia-patients-and-healthy-subjects
#15
Fanfan Zheng, Yue Cui, Hao Yan, Bing Liu, Tianzi Jiang
Schizophrenia is a highly heritable disorder with multiple susceptibility genes. Previously, we identified CACNA1C rs2007044 as a new risk locus for schizophrenia, with the minor allele G as risk allele. This association was recently validated by a powerful genome-wide association study. However, the underlying neural mechanisms remain unclear. Therefore, we tested whether the risk allele has an influence on cortical surface area and thickness in a sample of schizophrenia patients and healthy controls. We found significant genotype by diagnosis interactions on cortical surface area, but not thickness, in the right dorsolateral prefrontal cortex and the left superior parietal cortex, both of which are key components of the central executive network...
September 29, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27660282/cross-talk-between-macrophages-and-atrial-myocytes-in-atrial-fibrillation
#16
Zewei Sun, Dongchen Zhou, Xudong Xie, Shuai Wang, Zhen Wang, Wenting Zhao, Hongfei Xu, Liangrong Zheng
Increased macrophage accumulation occurs in the atria of patients with atrial fibrillation (AF). However, the phenotype and functions of the macrophages in AF remain unclear. We investigated the macrophage-atrial myocyte interaction in AF patients and found that the increased macrophages were mainly pro-inflammatory macrophages (iNOS(+), Arg1(-)). Tachypacing of HL-1 atrial myocytes also led to pro-inflammatory macrophage polarization. In addition, lipopolysaccharide (LPS)-stimulated pro-inflammatory macrophages-induced atrial electrical remodeling, evidenced by increased AF incidence and decreased atrial effective refractory period and L-type calcium currents (I Ca-L) in both canine and mouse AF models...
November 2016: Basic Research in Cardiology
https://www.readbyqxmd.com/read/27620326/association-of-cacna1c-and-syne1-in-offspring-of-patients-with-psychiatric-disorders
#17
Patricia Gassó, Vanessa Sánchez-Gistau, Sergi Mas, Gisela Sugranyes, Natalia Rodríguez, Daniel Boloc, Elena de la Serna, Soledad Romero, Dolores Moreno, Carmen Moreno, Covadonga M Díaz-Caneja, Amalia Lafuente, Josefina Castro-Fornieles
Schizophrenia (SZ) and bipolar disorder (BD) are severe mental diseases associated with cognitive impairment, mood disturbance, and psychosis. Both disorders are highly heritable and share a common genetic background. The present study assesses, for the first time, differences in genotype frequencies of polymorphisms located in genes involved in neurodevelopment and synaptic plasticity between genetic high-risk individuals (offspring of patients with SZ or BD; N=100: 31 and 69, respectively) and control subjects (offspring of community controls; N=96)...
November 30, 2016: Psychiatry Research
https://www.readbyqxmd.com/read/27618673/genetic-background-limits-generalizability-of-genotype-phenotype-relationships
#18
Laura J Sittig, Peter Carbonetto, Kyle A Engel, Kathleen S Krauss, Camila M Barrios-Camacho, Abraham A Palmer
Genome-wide association studies (GWASs) have identified numerous loci that influence risk for psychiatric diseases. Genetically engineered mice are often used to characterize genes implicated by GWASs. These studies are based on the assumption that observed genotype-phenotype relationships will generalize to humans, implying that the results would at least generalize to other inbred mouse strains. Given current concerns about reproducibility, we sought to directly test this assumption. We produced F1 crosses between male C57BL/6J mice heterozygous for null alleles of Cacna1c and Tcf7l2 and wild-type females from 30 inbred laboratory strains...
September 21, 2016: Neuron
https://www.readbyqxmd.com/read/27593853/a-case-of-timothy-syndrome-with-adrenal-medullary-dystrophy
#19
Miho Kawaida, Tokiya Abe, Toshio Nakanishi, Yoko Miyahara, Hiroyuki Yamagishi, Michiie Sakamoto, Taketo Yamada
Timothy syndrome (TS) is a congenital long QT syndrome that is associated with syndactyly and mutations in CACNA1C, encoding an L-type voltage-dependent calcium channel, Cav1.2. Recently, TS has been associated with autism and other psychological disorders. This case indicated bradycardia by prenatal screening and was diagnosed as TS by the occurrence of syndactyly and QT prolongation at birth. Despite therapy with anti-arrhythmia reagents and a pacemaker, the patient died 2 months after birth and was autopsied...
October 2016: Pathology International
https://www.readbyqxmd.com/read/27545043/mir-208b-upregulation-interferes-with-calcium-handling-in-hl-1-atrial-myocytes-implications-in-human-chronic-atrial-fibrillation
#20
Susana Cañón, Ricardo Caballero, Adela Herraiz-Martínez, Marta Pérez-Hernández, Begoña López, Felipe Atienza, José Jalife, Leif Hove-Madsen, Eva Delpón, Antonio Bernad
microRNAs (miR) have considerable potential as therapeutic tools in cardiac diseases. Alterations in atrial miR are involved in the development of atrial fibrillation (AF), but the molecular mechanism underlying their contribution to atrial remodeling in chronic atrial fibrillation (CAF) is only partially understood. Here we used miR array to analyze the miR profile of atrial biopsies from sinus rhythm (SR) and CAF patients. qRT-PCR identified a distinctive CAF-miR signature and described conserved miR-208b upregulation in human and ovine AF atrial tissue...
August 18, 2016: Journal of Molecular and Cellular Cardiology
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