| Epigenetic mechanism of L-type calcium channel beta-subunit downregulation in short QT human induced pluripotent stem cell-derived cardiomyocytes with CACNB2 mutation. | Epigenetic mechanism of L-type calcium channel β-subunit downregulation in short QT human induced pluripotent stem cell-derived cardiomyocytes with CACNB2 mutation.
Zhong R, Zhang F, Yang Z, Li Y, Xu Q, Lan H, Cyganek L, El-Battrawy I, Zhou X, Akin I, Borggrefe M. | 01/11/2023 |
| Association study of hypertension susceptibility genes ITGA9, MOV10, and CACNB2 with preeclampsia in Chinese Han population. | Association study of hypertension susceptibility genes ITGA9, MOV10, and CACNB2 with preeclampsia in Chinese Han population.
Xin Q, Xin G, Li L, Sun W, Jiang W, Wang J, Luan Y, Zhang Y, Cheng L, Duan S, Hong F, Ji Q, Ma W. | 11/26/2022 |
| Bipolar-associated miR-499-5p controls neuroplasticity by downregulating the Cav1.2 subunit CACNB2. | Bipolar-associated miR-499-5p controls neuroplasticity by downregulating the Cav1.2 subunit CACNB2.
Martins HC, Gilardi C, Sungur AÖ, Winterer J, Pelzl MA, Bicker S, Gross F, Kisko TM, Malikowska-Racia N, Braun MD, Brosch K, Nenadic I, Stein F, Meinert S, Schwarting RKW, Dannlowski U, Kircher T, Wöhr M, Schratt G., Free PMC Article | 10/15/2022 |
| A Preclinical Study on Brugada Syndrome with a CACNB2 Variant Using Human Cardiomyocytes from Induced Pluripotent Stem Cells. | A Preclinical Study on Brugada Syndrome with a CACNB2 Variant Using Human Cardiomyocytes from Induced Pluripotent Stem Cells.
Zhong R, Schimanski T, Zhang F, Lan H, Hohn A, Xu Q, Huang M, Liao Z, Qiao L, Yang Z, Li Y, Zhao Z, Li X, Rose L, Albers S, Maywald L, Müller J, Dinkel H, Saguner A, Janssen JWG, Swamy N, Xi Y, Lang S, Kleinsorge M, Duru F, Zhou X, Diecke S, Cyganek L, Akin I, El-Battrawy I., Free PMC Article | 08/27/2022 |
| CACNB2 rs11013860 polymorphism correlates of prefrontal cortex thickness in bipolar patients with first-episode mania. | CACNB2 rs11013860 polymorphism correlates of prefrontal cortex thickness in bipolar patients with first-episode mania.
Chen J, Tan J, Greenshaw AJ, Sawalha J, Liu Y, Zhang X, Zou W, Cheng X, Deng W, Zhang Y, Cui L, Liu C, Sun J, Cheng X, Wu Q, Li S, Mai S, Lan X, Chen Y, Cai Y, Zheng C, Cheng D, Zhang B, Yang C, Li X, Li X, Ye B, Yousefnezhad M, Zhang Y, Zhao L, Soares JC, Zhang X, Li T, Cao B, Cao L. | 02/20/2021 |
| Autism-associated mutations in the CaVbeta2 calcium-channel subunit increase Ba(2+)-currents and lead to differential modulation by the RGK-protein Gem. | Autism-associated mutations in the Ca(V)β(2) calcium-channel subunit increase Ba(2+)-currents and lead to differential modulation by the RGK-protein Gem.
Despang P, Salamon S, Breitenkamp AF, Kuzmenkina E, Herzig S, Matthes J. | 01/9/2021 |
| Our data show that L-type calcium channels regulate VEGF expression and secretion from retinal pigment epithelial cells (ARPE19) and support the role of CACNB2 via regulation of VEGF in the pathogenesis of proliferative diabetic retinopathy. | CACNB2 Is a Novel Susceptibility Gene for Diabetic Retinopathy in Type 1 Diabetes.
Vuori N, Sandholm N, Kumar A, Hietala K, Syreeni A, Forsblom C, Juuti-Uusitalo K, Skottman H, Imamura M, Maeda S, Summanen PA, Lehto M, Groop PH, FinnDiane Study., Free PMC Article | 03/21/2020 |
| Our study demonstrates that bipolar disorder patients with the CACNB2 rs11013860 AA/CA genotype may exhibit altered hippocampal-cortical connectivity. | Variation in the CACNB2 gene is associated with functional connectivity of the Hippocampus in bipolar disorder.
Liu F, Gong X, Yao X, Cui L, Yin Z, Li C, Tang Y, Wang F., Free PMC Article | 12/14/2019 |
| The results indicate that CACNB2 gene polymorphism was significantly associated with higher odds of high blood pressure in Lithuanian adolescents aged 12-15 years. | Association between ATP2B1 and CACNB2 polymorphisms and high blood pressure in a population of Lithuanian children and adolescents: a cross-sectional study.
Simonyte S, Kuciene R, Dulskiene V, Lesauskaite V., Free PMC Article | 10/26/2019 |
| This genotype/phenotype association study uncovered a variant in CACNB2 that may be associated with both KD susceptibility and bifid T waves, a novel signature of altered myocardial repolarization. | Bifid T waves on the ECG and genetic variation in calcium channel voltage-dependent beta 2 subunit gene (CACNB2) in acute Kawasaki disease.
Oyamada J, Shimizu C, Kim J, Williams MR, Png E, Hibberd ML, Tremoulet AH, Perry JC, Burns JC. | 05/18/2019 |
| Data show that an indispensable beta-subunit of the voltage-gated Ca(2+) channel Cav1.2 interaction with H-Ras is independently of Ca(2+) flux, suggesting the regulatory role of beta2 in transcriptional activation via the ERK/CREB pathway. | β-Subunit of the voltage-gated Ca(2+) channel Cav1.2 drives signaling to the nucleus via H-Ras.
Servili E, Trus M, Maayan D, Atlas D., Free PMC Article | 10/20/2018 |
| Our study shows that palmitoylation of CaVbeta2a is necessary for CaValpha1 trafficking to the plasma membrane. However, excessive number of palmitoylated CaVbeta2a leads to Ca(2+) overload and beta cell death. | Palmitoylation of Ca(2+) channel subunit Ca(V)β(2a) induces pancreatic beta-cell toxicity via Ca(2+) overload.
Kazim AS, Storm P, Zhang E, Renström E. | 09/16/2017 |
| Study showed that CACNB2 is a possible candidate hypertrophy-modifying gene contributing to disease variability of MYBPC3-associated familial hypertrophic cardiomyopathy | Next-generation sequencing identifies pathogenic and modifier mutations in a consanguineous Chinese family with hypertrophic cardiomyopathy.
Zhang X, Xie J, Zhu S, Chen Y, Wang L, Xu B., Free PMC Article | 07/22/2017 |
| Five serious mental disorders and three major cardiovascular diseases have recently been linked to the CACNB2 gene coding for the Cavbeta2 subunits | CACNB2: An Emerging Pharmacological Target for Hypertension, Heart Failure, Arrhythmia and Mental Disorders.
Soldatov NM. | 08/13/2016 |
| ADM genotype AA was associated with the highest values of systolic and diastolic blood pressure (BP), while CACNB2 genotype CC carriers had the highest values of diastolic BP in childhood. | Physical, behavioural and genetic predictors of adult hypertension: the findings of the Kaunas Cardiovascular Risk Cohort study.
Petkeviciene J, Klumbiene J, Simonyte S, Ceponiene I, Jureniene K, Kriaucioniene V, Raskiliene A, Smalinskiene A, Lesauskaite V., Free PMC Article | 06/27/2015 |
| In the gene-based analysis, CACNB2 and CTCF showed the strongest evidence for association with schizophrenia in both the present samples and in those of the Psychiatric Genetics Consortium datasets. | Integrated pathway-based approach identifies association between genomic regions at CTCF and CACNB2 and schizophrenia.
Juraeva D, Haenisch B, Zapatka M, Frank J, GROUP Investigators, PSYCH-GEMS SCZ Working Group, Witt SH, Mühleisen TW, Treutlein J, Strohmaier J, Meier S, Degenhardt F, Giegling I, Ripke S, Leber M, Lange C, Schulze TG, Mössner R, Nenadic I, Sauer H, Rujescu D, Maier W, Børglum A, Ophoff R, Cichon S, Nöthen MM, Rietschel M, Mattheisen M, Brors B., Free PMC Article | 06/27/2015 |
| Chronic atrial fibrillation increases miR-21 expression in human atrial myocytes and decreases I(Ca,L) density by downregulating CACNA1C/CACNB2 expression. | Chronic atrial fibrillation increases microRNA-21 in human atrial myocytes decreasing L-type calcium current.
Barana A, Matamoros M, Dolz-Gaitón P, Pérez-Hernández M, Amorós I, Núñez M, Sacristán S, Pedraz Á, Pinto Á, Fernández-Avilés F, Tamargo J, Delpón E, Caballero R. | 02/28/2015 |
| Three rare missense mutations of CACNB2 (G167S, S197F, and F240L) found in Autism Spectrum Disorders (ASD)-affected families, are reported. | Rare mutations of CACNB2 found in autism spectrum disease-affected families alter calcium channel function.
Breitenkamp AF, Matthes J, Nass RD, Sinzig J, Lehmkuhl G, Nürnberg P, Herzig S., Free PMC Article | 01/17/2015 |
| High prevalence of CACNA2D1, SCN5A, and CACNB2 genetic variants in the Danish population previously associated with Brugada syndrome has been found in new exome data. | High prevalence of genetic variants previously associated with Brugada syndrome in new exome data.
Risgaard B, Jabbari R, Refsgaard L, Holst AG, Haunsø S, Sadjadieh A, Winkel BG, Olesen MS, Tfelt-Hansen J. | 06/7/2014 |
| Association of the SNP rs2932538 in MOV10 and SNP rs4373814 in CACNB2 with an increased risk of hypertension in a Chinese Han population. | Genetic variations in MOV10 and CACNB2 are associated with hypertension in a Chinese Han population.
Hong GL, Chen XZ, Liu Y, Liu YH, Fu X, Lin SB, Zhu Q. | 05/17/2014 |
| Genetic variations in CYP17A1, CACNB2 and PLEKHA7 were related to blood pressure traits and/or hypertension in Chinese She population. | Genetic variations in CYP17A1, CACNB2 and PLEKHA7 are associated with blood pressure and/or hypertension in She ethnic minority of China.
Lin Y, Lai X, Chen B, Xu Y, Huang B, Chen Z, Zhu S, Yao J, Jiang Q, Huang H, Wen J, Chen G. | 04/7/2012 |
| Genetic testing reveals disease-causing mutations in depolarizing sodium (SCN5A) or calcium (CaCNB2b) channels in 5 infants with rapid ventricular tachycardia, conduction abnormalities, and Brugada-like syndrome. | Brugada-like syndrome in infancy presenting with rapid ventricular tachycardia and intraventricular conduction delay.
Kanter RJ, Pfeiffer R, Hu D, Barajas-Martinez H, Carboni MP, Antzelevitch C., Free PMC Article | 02/25/2012 |
| This study provided that cacnb2 are associated with Bipolar I in the Han Chinese population. | Genome-wide association study of bipolar I disorder in the Han Chinese population.
Lee MT, Chen CH, Lee CS, Chen CC, Chong MY, Ouyang WC, Chiu NY, Chuo LJ, Chen CY, Tan HK, Lane HY, Chang TJ, Lin CH, Jou SH, Hou YM, Feng J, Lai TJ, Tung CL, Chen TJ, Chang CJ, Lung FW, Chen CK, Shiah IS, Liu CY, Teng PR, Chen KH, Shen LJ, Cheng CS, Chang TP, Li CF, Chou CH, Chen CY, Wang KH, Fann CS, Wu JY, Chen YT, Cheng AT. | 08/20/2011 |
| that genetic variation within CACNB2 may influence treatment-related outcomes in high-risk patients with hypertension. | Genetic variation in the beta2 subunit of the voltage-gated calcium channel and pharmacogenetic association with adverse cardiovascular outcomes in the INternational VErapamil SR-Trandolapril STudy GENEtic Substudy (INVEST-GENES).
Niu Y, Gong Y, Langaee TY, Davis HM, Elewa H, Beitelshees AL, Moss JI, Cooper-Dehoff RM, Pepine CJ, Johnson JA., Free PMC Article | 05/14/2011 |
| CACNB2 is a possible novel early repolarization syndrome susceptibility gene. | Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.
Burashnikov E, Pfeiffer R, Barajas-Martinez H, Delpón E, Hu D, Desai M, Borggrefe M, Häissaguerre M, Kanter R, Pollevick GD, Guerchicoff A, Laiño R, Marieb M, Nademanee K, Nam GB, Robles R, Schimpf R, Stapleton DD, Viskin S, Winters S, Wolpert C, Zimmern S, Veltmann C, Antzelevitch C., Free PMC Article | 04/9/2011 |