Results 121 to 130 of about 3,372 (135)

A novel missense KCNJ2 gene mutation associated with andersen tawil syndrome

2019
European Society of Human ...
Sözügüzel, Mavi Deniz, Işık, Fatma Büşra, Genç, Nimetullah Mete, Çaralan, E. F., Doğru, Zübeyir, Akdeniz, Coşkun, Cangül, Hakan   +6 more
openaire   +2 more sources

[Analysis of clinical phenotypes and KCNJ2 gene mutations in a Chinese pedigree affected with Andersen-Tawil syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2019
To analyze the clinical phenotypes of a pedigree affected with periodic paralysis and explore its molecular basis.Clinical data and peripheral blood samples of the pedigree were collected. The proband and his father both complained of periodic paralysis and dysmorphic features. The exome of the proband was screened using Roche NimbleGen probes, and the
Huihui, Sun, Naijun, Wan
openaire   +1 more source

Abstract 4367328: Mutations in the C-terminal of the KCNJ2 gene increase the odds of sudden cardiac death in Andersen-Tawil Syndrome.

Circulation
Background: Andersen-Tawil Syndrome (ATS) is an autosomal dominant disorder marked by dysmorphic features, periodic paralysis, and ventricular arrhythmias. While the overall risk of cardiac arrest in ATS patients is low, mutations in the C-terminal region of the KCNJ2 gene are linked to a higher risk of ...
Alan Garcia, Richard Salama Frisbie, Abdul Mueez Alam Kayani, Ricky Lemus-Zamora, Thomas Fretz, Brijesh Patel   +5 more
openaire   +1 more source

Association between Sour Taste SNP KCNJ2-rs236514, Diet Quality and Mild Cognitive Impairment in an Elderly Cohort

Nutrients, 2021
Celeste Ferraris, Alexandria Turner, Christopher J Scarlett   +2 more
exaly  

Kcnj2 Regulates Electrical Activity-Induced Gene Networks in Embryonic Mouse Palate Shelves

Developmental Biology
Yunus H. Ozekin, Rebecca O'Rourke, Emily Anne Bates   +2 more
openaire   +1 more source

Association analysis of SNPs in GRHL3, FAF1, and KCNJ2 with NSCPO sub‐phenotypes in Han Chinese

Oral Diseases, 2022
Jia-Lin Sun, Bin Yin, Yan-Song Lin
exaly  

Phenotype Variability in Patients CarryingKCNJ2Mutations

Circulation: Cardiovascular Genetics, 2012
Wei-Guang Ding, Seiko Ohno, Minoru Horie
exaly  

Computational Analysis of the Effects of KCNJ2-linked E299V Mutation Short QT Syndrome and Its Potential Therapeutic Targets

2021
Cunjin Luo, Ying He, Kuanquan Wang
exaly  

Identification and functional characterisation of a novel KCNJ2 mutation, Val302del, causing Andersen–Tawil syndrome

Canadian Journal of Physiology and Pharmacology, 2015
Balázs Ördög, György Seprényi, István Nagy   +2 more
exaly  

Trafficking-competent and trafficking-defectiveKCNJ2 mutations in Andersen syndrome

Human Mutation, 2006
Leomar Y Ballester, D Woodrow Benson, Ian H Law   +2 more
exaly