HuGE Literature Finder
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| Genetic analysis identifies the SLC4A3 anion exchanger as a major gene for short QT syndrome. Heart rhythm 2023 2 . Christiansen Morten Krogh, Kjær-Sørensen Kasper, Clavsen Natacha C, Dittmann Sven, Jensen Maja Fuhlendorff, Guldbrandsen Halvor Østerby, Pedersen Lisbeth Nørum, Sørensen Rikke Hasle, Lildballe Dorte Launholt, Müller Klara, Müller Patrick, Vogel Kira, Rudic Boris, Borggrefe Martin, Oxvig Claus, Aalkjær Christian, Schulze-Bahr Eric, Matchkov Vladimir, Bundgaard Henning, Jensen Henrik Kjæru |
| Role of CACNA1C in Brugada syndrome: Prevalence and phenotype of probands referred for genetic testing. Heart rhythm 2022 1 19 (5): 798-806. Novelli Valeria, Memmi Mirella, Malovini Alberto, Mazzanti Andrea, Liu Nian, Yanfei Ruan, Bongianino Rossana, Denegri Marco, Monteforte Nicola, Bloise Raffaella, Morini Massimo, Napolitano Car |
| Mutational spectrum of congenital long QT syndrome in Turkey; identification of 12 novel mutations across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C, and CALM1. Journal of cardiovascular electrophysiology 2021 12 33 (2): 262-273. Akgun-Dogan Ozlem, A?ao?lu Nihat B, K Demirkol Yasemin, Do?anay Levent, Ergül Yakup, Karacan Mehm |
| An NGS-based genotyping in LQTS; minor genes are no longer minor. Journal of human genetics 2020 Jul . Ohno Seiko, Ozawa Junichi, Fukuyama Megumi, Makiyama Takeru, Horie Mino |
| Genetic variants associated with psychotic symptoms across psychiatric disorders. Neuroscience letters 2020 Jan 134754. Calabrò Marco, Porcelli Stefano, Crisafulli Concetta, Albani Diego, Kasper Siegfried, Zohar Joseph, Souery Daniel, Montgomery Stuart, Mantovani Vilma, Mendlewicz Julien, Bonassi Stefano, Vieta Eduard, Frustaci Alessandra, Ducci Giuseppe, Landi Stefano, Boccia Stefania, Bellomo Antonello, Di Nicola Marco, Janiri Luigi, Colombo Roberto, Benedetti Francesco, Mandelli Laura, Fabbri Chiara, Serretti Alessand |
| CACNA1C haploinsufficiency accounts for the common features of interstitial 12p13.33 deletion carriers. European journal of medical genetics 2020 1 63 (4): 103843. Mio Catia, Passon Nadia, Baldan Federica, Bregant Elisa, Monaco Elisabetta, Mancini Loretta, Demori Eliana, Damante Giusep |
| Clinical characterization and outcome of prolonged heart rate-corrected QT interval among children with syndactyly. Medicine 2020 10 99 (42): e22740. Han Hao, Chen Youzhou, Li Songnan, Ren Lan, Zhang Jianqiang, Sun Huayi, Dong Jianzeng, Zhao Xingsh |
| An autism-causing calcium channel variant functions with selective autophagy to alter axon targeting and behavior. PLoS genetics 2019 12 15 (12): e1008488. Buddell Tyler, Friedman Vladislav, Drozd Cody J, Quinn Christopher |
| Putative role of Brugada syndrome genes in familial atrial fibrillation. European review for medical and pharmacological sciences 2019 9 23 (17): 7582-7598. Maltese P E, Aldanova E, Kriuchkova N, Averianov A, Manara E, Paolacci S, Bruson A, Miotto R, Sartori M, Guerri G, Zuntini M, Marceddu G, Tezzele S, Tadtaeva K, Chernova A, Aksyutina N, Nikulina S, Nodari S, Bertelli |
| A Critical Neurodevelopmental Role for L-Type Voltage-Gated Calcium Channels in Neurite Extension and Radial Migration. The Journal of neuroscience : the official journal of the Society for Neuroscience 2018 Jun 38 (24): 5551-5566. Kamijo Satoshi, Ishii Yuichiro, Horigane Shin-Ichiro, Suzuki Kanzo, Ohkura Masamichi, Nakai Junichi, Fujii Hajime, Takemoto-Kimura Sayaka, Bito Haruhi |
Five novel loci associated with antipsychotic treatment response in patients with schizophrenia: a genome-wide association study.
The lancet. Psychiatry 2018 Mar . Yu Hao, Yan Hao, Wang Lifang, Li Jun, Tan Liwen, Deng Wei, Chen Qi, Yang Guigang, Zhang Fuquan, Lu Tianlan, Yang Jianli, Li Keqing, Lv Luxian, Tan Qingrong, Zhang Hongyan, Xiao Xiao, Li Ming, Ma Xin, Yang Fude, Li Lingjiang, Wang Chuanyue, Li Tao, Zhang Dai, Yue Weihua, |
| An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillation. Scientific reports 2018 10 8 (1): 14619. Blancard Malorie, Debbiche Amal, Kato Koichi, Cardin Christelle, Sabrina Guichard, Gandjbakhch Estelle, Probst Vincent, Haissaguerre Michel, Extramiana Fabrice, Hocini Mélèze, Olivier Geoffroy, Leenhardt Antoine, Guicheney Pascale, Rougier Jean-Sébasti |
| Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A. Annals of laboratory medicine 2017 10 38 (1): 54-58. Seo Soo Hyun, Kim So Yeon, Cho Sung Im, Park Hyunwoong, Lee Seungjun, Choi Jong Moon, Kim Man Jin, Lee Jee Soo, Ahn Kyung Jin, Song Mi Kyoung, Bae Eun Jung, Park Sung Sup, Seong Moon W |
| Does Sudden Unexplained Nocturnal Death Syndrome Remain the Autopsy-Negative Disorder: A Gross, Microscopic, and Molecular Autopsy Investigation in Southern China. Mayo Clinic proceedings 2016 Oct . Zhang Liyong, Tester David J, Lang Di, Chen Yili, Zheng Jinxiang, Gao Rui, Corliss Robert F, Tang Shuangbo, Kyle John W, Liu Chao, Ackerman Michael J, Makielski Jonathan C, Cheng Jiandi |
| CACNA1C gene and schizophrenia: a case-control and pharmacogenetic study. Psychiatric genetics 2015 Aug 25 (4): 163-7. Porcelli Stefano, Lee Soo-Jung, Han Changsu, Patkar Ashwin A, Serretti Alessandro, Pae Chi- |
| Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome. Human molecular genetics 2015 May 24 (10): 2757-63. Le Scouarnec Solena, Karakachoff Matilde, Gourraud Jean-Baptiste, Lindenbaum Pierre, Bonnaud Stéphanie, Portero Vincent, Duboscq-Bidot Laëtitia, Daumy Xavier, Simonet Floriane, Teusan Raluca, Baron Estelle, Violleau Jade, Persyn Elodie, Bellanger Lise, Barc Julien, Chatel Stéphanie, Martins Raphaël, Mabo Philippe, Sacher Frédéric, Haïssaguerre Michel, Kyndt Florence, Schmitt Sébastien, Bézieau Stéphane, Le Marec Hervé, Dina Christian, Schott Jean-Jacques, Probst Vincent, Redon Richa |
| Novel SCN10A variants associated with Brugada syndrome. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2015 Apr . Fukuyama Megumi, Ohno Seiko, Makiyama Takeru, Horie Mino |
| Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome. PloS one 2015 10 (7): e0133037. Allegue Catarina, Coll Mònica, Mates Jesus, Campuzano Oscar, Iglesias Anna, Sobrino Beatriz, Brion Maria, Amigo Jorge, Carracedo Angel, Brugada Pedro, Brugada Josep, Brugada Ram |
| Schizophrenia Related Variants in CACNA1C also Confer Risk of Autism. PloS one 2015 10 (7): e0133247. Li Jun, Zhao Linnan, You Yang, Lu Tianlan, Jia Meixiang, Yu Hao, Ruan Yanyan, Yue Weihua, Liu Jing, Lu Lin, Zhang Dai, Wang Lifa |
| Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2014 Dec 16 (12): 1828-37. Fukuyama Megumi, Wang Qi, Kato Koichi, Ohno Seiko, Ding Wei-Guang, Toyoda Futoshi, Itoh Hideki, Kimura Hiromi, Makiyama Takeru, Ito Makoto, Matsuura Hiroshi, Horie Mino |
| Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genetic testing and molecular biomarkers 2013 Jul 17 (7): 553-61. Lieve Krystien V, Williams Leah, Daly Amy, Richard Gabriele, Bale Sherri, Macaya Daniela, Chung Wendy |
| Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome. Circulation. Cardiovascular genetics 2013 Jun 6 (3): 279-89. Boczek Nicole J, Best Jabe M, Tester David J, Giudicessi John R, Middha Sumit, Evans Jared M, Kamp Timothy J, Ackerman Michael |
| L-type calcium channel mutations in Japanese patients with inherited arrhythmias. Circulation journal : official journal of the Japanese Circulation Society 2013 77 (7): 1799-806. Fukuyama Megumi, Ohno Seiko, Wang Qi, Kimura Hiromi, Makiyama Takeru, Itoh Hideki, Ito Makoto, Horie Mino |
| Support for calcium channel gene defects in autism spectrum disorders. Molecular autism 2012 Dec 3 (1): 1. Lu AT, Dai X, Martinez-Agosto JA, Cantor RM |
| GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
BMC cardiovascular disorders 2011 11 (1): 29. Aouizerat Bradley E, Vittinghoff Eric, Musone Stacy L, Pawlikowska Ludmila, Kwok Pui-Yan, Olgin Jeffrey E, Tseng Zian |
| Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. Heart rhythm : the official journal of the Heart Rhythm Society 2010 Dec 7 (12): 1872-82. Burashnikov Elena, Pfeiffer Ryan, Barajas-Martinez Héctor, Delpón Eva, Hu Dan, Desai Mayurika, Borggrefe Martin, Häissaguerre Michel, Kanter Ronald, Pollevick Guido D, Guerchicoff Alejandra, Laiño Ruben, Marieb Mark, Nademanee Koonlawee, Nam Gi-Byoung, Robles Roberto, Schimpf Rainer, Stapleton Dwight D, Viskin Sami, Winters Stephen, Wolpert Christian, Zimmern Samuel, Veltmann Christian, Antzelevitch Charl |
| Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance. Journal of the American College of Cardiology 2010 12 57 (1): 40-7. Barc Julien, Briec François, Schmitt Sébastien, Kyndt Florence, Le Cunff Martine, Baron Estelle, Vieyres Claude, Sacher Frédéric, Redon Richard, Le Caignec Cédric, Le Marec Hervé, Probst Vincent, Schott Jean-Jacqu |
| CACNA1H mutations in autism spectrum disorders. The Journal of biological chemistry 2006 Aug 281 (31): 22085-91. Splawski Igor, Yoo Dana S, Stotz Stephanie C, Cherry Allison, Clapham David E, Keating Mark |
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- Page last updated:Mar 20, 2023
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