Results 61 to 70 of about 3,632 (118)

Identification of fatty acid metabolism signature genes in patients with pulmonary arterial hypertension using WGCNA and machine learning

Journal of International Medical Research
Objective To investigate the signature genes of fatty acid metabolism and their association with immune cells in pulmonary arterial hypertension (PAH). Methods Fatty acid metabolism-related genes were obtained from the GeneCards database.
Xibang Liu, Dandan Wu, Chunmiao Bao, Zeen Huang, Weiwei Wang, Lili Sun, Lin Qiu   +6 more
doaj   +1 more source

Andersen-Tawil Syndrome

Indian Pacing and Electrophysiology Journal, 2006
Andersen-Tawil syndrome (ATS) is a rare condition consisting of ventricular arrhythmias, periodic paralysis, and dysmorphic features. In 2001, mutations in KCNJ2, which encodes the α subunit of the potassium channel Kir2.1, were identified in patients ...
Andrew H. Smith, Frank A. Fish, Prince J. Kannankeril   +2 more
doaj  

Hypokalemic Periodic Paralysis: Narrative Review

Вопросы современной педиатрии
Hypokalemic periodic paralysis is a rare genetic pathology characterized by spontaneous muscle weakness up to paralysis along with hypokalemia. The disease development is associated with changes in the CACNA1S, SCN4A, KCNJ2, and KCNJ18 genes regulating ...
Artem A. Ivanov, Natalya S. Ershova, Tatiana V. Kulichenko   +2 more
doaj   +1 more source

Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study

npj Genomic Medicine
Leveraging whole genome sequencing data of 1751 individuals from the UK and 2587 Qatari subjects, we suggest here an association of rare variants mapping to the sour taste-associated gene KCNJ2 with reduced low-density lipoprotein cholesterol (LDL-C, P = 
Niccolò Rossi, Najeeb Syed, Alessia Visconti, Elbay Aliyev, Sarah Berry, Mafalda Bourbon, Tim D. Spector, Pirro G. Hysi, Khalid A. Fakhro, Mario Falchi   +9 more
doaj   +1 more source

Transcriptome and open chromatin analysis reveals the process of myocardial cell development and key pathogenic target proteins in Long QT syndrome type 7

Journal of Translational Medicine
Objective Long QT syndrome type 7 (Andersen–Tawil syndrome, ATS), which is caused by KCNJ2 gene mutation, often leads to ventricular arrhythmia, periodic paralysis and skeletal malformations.
Peipei Chen, Junyu Long, Tianrui Hua, Zhifa Zheng, Ying Xiao, Lianfeng Chen, Kang Yu, Wei Wu, Shuyang Zhang   +8 more
doaj   +1 more source

Familial hypokalemic periodic paralysis: a case induced by concurrent hyperthyroidism

BMC Nephrology
Background Familial hypokalemic periodic paralysis (HypoPP) is an uncommon genetic disorder characterized by recurrent episodes of muscle weakness and hypokalemia, typically starting in early adulthood. The existence of hyperthyroidism in the presence of
Zein Alabdin Hannouneh, C. Elena Cervantes, C. John Sperati, Mohamad Hanouneh   +3 more
doaj   +1 more source

Exploring the transcriptomic landscape of moyamoya disease and systemic lupus erythematosus: insights into crosstalk genes and immune relationships

Frontiers in Immunology
BackgroundSystemic Lupus Erythematosus (SLE) is acknowledged for its significant influence on systemic health. This study sought to explore potential crosstalk genes, pathways, and immune cells in the relationship between SLE and moyamoya disease (MMD ...
Qingbao Guo, Qingbao Guo, Qingbao Guo, Yan-Na Fan, Manli Xie, Qian-Nan Wang, Jingjie Li, Jingjie Li, Jingjie Li, Simeng Liu, Simeng Liu, Simeng Liu, Xiaopeng Wang, Xiaopeng Wang, Xiaopeng Wang, Dan Yu, Zhengxing Zou, Gan Gao, Gan Gao, Gan Gao, Qian Zhang, Fangbin Hao, Fangbin Hao, Fangbin Hao, Jie Feng, Rimiao Yang, Minjie Wang, Minjie Wang, Minjie Wang, Heguan Fu, Xiangyang Bao, Lian Duan   +31 more
doaj   +1 more source

Nova mutacija kanalčka KCNJ2 pri bolnici s sindromom Andersen-Tawil

Zdravniški Vestnik, 2013
Andersen-Tawil syndrome (ATS) is a rare inherited or sporadic disorder characterized by ventricular arrhythmias, characteristic QT-U wave patterns in electrocardiogram, periodic paralysis, and dysmorphic features.
Matjaž Šinkovec, Andrej Pernat, Matevž Jan, Bor Antolič, Jernej Kovač, Katarina Trebušak Podkrajšek, Maruša Debeljak   +6 more
doaj  

Familial Short QT Syndrome: Phenotypic Variability and Challenges in Risk Stratification. [PDF]

J Clin Med
Bouzón P, Alen A, Salgado M, González-Urbistondo F, Vega-Prado LM, Coto E, Rodríguez-Reguero JJ, Gomez J, Fernández-Barrio B, Avanzas P, Lorca R.   +10 more
europepmc   +1 more source

Bidirectional ventricular tachycardia in a young woman with prominent U waves: what is the diagnosis? [PDF]

Eur Heart J Case Rep
Saplaouras A, Theocharidis A, Letsas KP.
europepmc   +1 more source