Relevant bibliographies by topics / R1193Q polymorphism

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  1. Journal articles

Academic literature on the topic 'R1193Q polymorphism'

Author: Grafiati
Published: 3 June 2025
Last updated: 31 July 2025

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Journal articles on the topic "R1193Q polymorphism"

1

Arezoo, Sabbagh Hadi*. "FREQUENCY OF R1193Q MUTATION IN SCNSA GENE ON SUSCEPTIBILITY FOR ARVC AND LQTS IN IRAN." Indo American Journal of Pharmaceutical Sciences 04, no. 09 (2017): 2772–76. https://doi.org/10.5281/zenodo.887201.

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Cardiomyopathy, a disease of the heart muscle, is associated with cardiac dysfunction and results to severe heart failure, arrhythmias, and death. Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a familial cardiomyopathy that is characterized by localized movement disorder in the wall of the right ventricle. Long QT syndrome (LQTS) is typical cardiac arrhythmia that causes hereditary or acquired cardiac arrest in patients with long QT interval and can be identified by electrocardiogram. It has been elucidated that R1193Q Polymorphism (R1193Q GGG> CAG, rs41261344)) is a functional
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2

Huang, Hai, Juan Zhao, Fatima-Zahra Barrane, Jean Champagne, and Mohamed Chahine. "Nav1.5/R1193Q polymorphism is associated with both long QT and Brugada syndromes." Canadian Journal of Cardiology 22, no. 4 (2006): 309–13. http://dx.doi.org/10.1016/s0828-282x(06)70915-1.

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3

Hwang, H. W. "R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese." Journal of Medical Genetics 42, no. 2 (2005): e7-e7. http://dx.doi.org/10.1136/jmg.2004.027995.

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4

Matsusue, Aya, Masayuki Kashiwagi, Kenji Hara, Brian Waters, Tomoko Sugimura, and Shin-ichi Kubo. "An autopsy case of sudden unexpected nocturnal death syndrome with R1193Q polymorphism in the SCN5A gene." Legal Medicine 14, no. 6 (2012): 317–19. http://dx.doi.org/10.1016/j.legalmed.2012.04.009.

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5

Sun, A., L. Xu, S. Wang, et al. "SCN5A R1193Q polymorphism associated with progressive cardiac conduction defects and long QT syndrome in a Chinese family." Journal of Medical Genetics 45, no. 2 (2007): 127–28. http://dx.doi.org/10.1136/jmg.2007.056333.

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6

Abe, Masayoshi, Koshi Kinoshita, Kenta Matsuoka, et al. "Lack of modulatory effect of the SCN5A R1193Q polymorphism on cardiac fast Na+ current at body temperature." PLOS ONE 13, no. 11 (2018): e0207437. http://dx.doi.org/10.1371/journal.pone.0207437.

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7

Qiu, Xiaoliang, Wenling Liu, Dayi Hu, Yihong Sun, Lei Li, and Cuilan Li. "Patient with obstructive sleep apnea-hypopnea syndrome and SCN5A mutation (R1193Q polymorphism) associated with Brugada type 2 electrocardiographic pattern." Journal of Electrocardiology 42, no. 3 (2009): 250–53. http://dx.doi.org/10.1016/j.jelectrocard.2008.08.042.

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8

Donadelli, Roberta, Federica Banterla, Miriam Galbusera, et al. "In-vitro and in-vivo consequences of mutations in the von Willebrand factor cleaving protease ADAMTS13 in thrombotic thrombocytopenic purpura." Thrombosis and Haemostasis 96, no. 10 (2006): 454–64. http://dx.doi.org/10.1160/th06-05-0236.

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SummaryThrombotic thrombocytopenic purpura (TTP) is a disease characterized by microvascular thrombosis, often associated with deficiency of the von Willebrand factor (VWF) cleaving protease ADAMTS13.We investigated the spectrum of ADAMTS13 gene mutations in patients with TTP and congenital ADAMTS13 deficiency to establish the consequences on ADAMTS13 processing and activity. We describe five missense (V88M, G1239V, R1060W, R1123C and R1219W), 1 nonsense (W1016Stop) and 1 insertion (82_83insT) mutations. In two patients no mutation was identified despite undetectable protease activity. Express
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9

He, Ya-fang, Li Hua, Yi-xiao Bao, Quan-hua Liu, Yi Chu, and Ding-zhu Fang. "IL-13 R110Q, a Naturally Occurring IL-13 Polymorphism, Confers Enhanced Functional Activity in Cultured Human Bronchial Smooth Muscle Cells." Allergy, Asthma & Immunology Research 5, no. 6 (2013): 377. http://dx.doi.org/10.4168/aair.2013.5.6.377.

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10

Omari Alzahrani, Fatima, Mohammed Obeid Alshaharni, Gamal Awad El-Shaboury, and Abdelfattah Badr. "Biodiversity and Evaluation of Genetic Resources of Some Coffee Trees Grown in Al-Baha, Saudi Arabia." Current Issues in Molecular Biology 47, no. 3 (2025): 136. https://doi.org/10.3390/cimb47030136.

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The biodiversity of 12 coffee (Coffea arabica L.) cultivars collected from the Al-Baha region in the southwest of Saudi Arabia was evaluated using 25 morphological variations and genetic diversity as demonstrated by molecular polymorphism generated by eight Inter Simple Sequence Repeats (ISSRs) and nine Start Codon Targeted (SCoT) primers. Substantial variations were scored in the morphological traits reflected in the clustering of the examined cultivars in PCA of the coffee cultivars. The examined cultivars were grouped in two groups, one included the cultivars coded Y5, Y6, R113, and Y7 and
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