Results 1 to 10 of about 4,086 (181)

KCNJ2 Facilitates Clear Cell Renal Cell Carcinoma Progression and Glucose Metabolism [PDF]

International Journal of Genomics
Conclusion: KCNJ2 plays a crucial role in ccRCC progression through affecting glucose metabolism and immune responses. Our findings reveal the functional role of KCNJ2 in promoting tumor progression and metabolic reprogramming in ccRCC, highlighting its ...
Guanglin Yang, Naikai Liao, Liwei Wei
exaly   +6 more sources

Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome [PDF]

Frontiers in Genetics, 2021
Andersen-Tawil Syndrome (ATS) is a rare disease defined by the association of cardiac arrhythmias, periodic paralysis and dysmorphic features, and is caused by KCNJ2 loss-of-function mutations.
Pascal Amedro, Michel Vivaudou, Julien Fauré   +2 more
exaly   +6 more sources

KCNJ2 is Required for NLRP3 Inflammasome Activation That Drives Allergic Airway Inflammation and Remodeling [PDF]

Advanced Science
Airway inflammation and remodeling are cardinal features of asthma pathogenesis. Genome‐wide association studies have shown that several SNPs of KCNJ2, a member of the inwardly rectifying potassium channel family, are associated with asthma in patients ...
Yachao Cui, Shumei Wu, Yang Peng, Yiqi Liu, Li Che, Shiying Chen, Feng Zhang, Dajiang Qin, Shiyue Li, Pixin Ran, Wenguang Yin   +10 more
doaj   +3 more sources

Case Report of Andersen–Tawil Syndrome: Rare Presentation of a Rare Disease [PDF]

Annals of Indian Academy of Neurology
Andersen–Tawil syndrome (ATS) is a rare genetic disorder characterized by a triad of periodic paralysis, cardiac arrhythmias, and dysmorphic features, typically presenting in the first two decades of life.
Himanshu Shakya, Shivangi Bhatnagar, Pratik Babel, Suman Kushwaha, Rajinder K Dhamija   +4 more
doaj   +2 more sources

T-Cell Acute Lymphoblastic Leukemia in a Young Patient With Andersen-Tawil Syndrome Successfully and Safely Treated With Intensive Chemotherapy Including Potential Precipitating Drugs: A Case Report After 3.5 Years of Follow-up. [PDF]

EJHaem
ABSTRACT Andersen–Tawil syndrome (ATS) is a rare, hereditary channelopathy characterized by periodic paralysis, cardiac arrhythmias, and sometimes developmental anomalies. No association with hematologic malignancies has previously been reported. We describe the case of a 27‐year‐old man with genetically confirmed Type 1 ATS who developed T‐cell acute ...
Rahmé R, Bamba PM, Do TTD, Behin A, Gandjbakhch E, Gardin C, Braun T.   +6 more
europepmc   +2 more sources

Chamber-specific chromatin architecture guides functional interpretation of disease-associated Cis-regulatory elements in human cardiomyocytes [PDF]

Nature Communications
Cis-regulatory elements (CREs) are noncoding DNA regions regulating cell-type-specific gene expression programs by interacting with distal gene promoters.
S. Haydar, R. Bednarz, P. Laurette, I. Sobitov, N. Díaz i Pedrosa, P. Videm, T. Lueneburg, S. Kuß, H. Lahm, M. Dreßen, M. Krane, C. Schmidt, B. A. Grüning, N. Voigt, K. Streckfuss-Bömeke, R. Gilsbach   +15 more
doaj   +2 more sources

124I‐labelled BMSC‐Derived Extracellular Vesicles Deliver CRISPR/Cas9 Ribonucleoproteins With a GFP‐Reporter System to Inhibit Osteosarcoma Proliferation and Metastasis [PDF]

Journal of Extracellular Vesicles
Metastasis constitutes the principal factor leading to the unfavourable prognosis of osteosarcoma patients. Hypoxia, as the inherent microenvironment of osteosarcoma, can upregulate HIF‐1α via multiple pathways, thereby facilitating osteosarcoma ...
Yujie Pan, Xianteng Yang, Zhirui Zeng, Futao Liu, Jin Luo, Mao Shen, Wei Zhou, Jianyang Li, Guangfu Jiang, Li Sun, Haifeng Huang, Runsang Pan   +11 more
doaj   +2 more sources

Gene and allele-specific expression during electric organ ontogeny in African weakly electric fish (Campylomormyrus) [PDF]

Communications Biology
The African weakly electric fish use their muscle-derived electric organ to produce electric organ discharge (EOD) for electrocommunication and electrolocation.
Feng Cheng, Alice B. Dennis, Linh Nguyen, Otto Baumann, Frank Kirschbaum, Marisol Domínguez, Ralph Tiedemann   +6 more
doaj   +2 more sources

Atypical presentation of Andersen-Tawil syndrome: heart failure with reduced ejection without periodic paralysis or dysmorphic features [PDF]

European Journal of Case Reports in Internal Medicine
Background: Andersen-Tawil syndrome (ATS) is a rare autosomal dominant disorder caused by variants in the KCNJ2 gene. It is associated with periodic paralysis, dysmorphic features and cardiac arrhythmias.
Mustafa Shehzad, Dawood Shehzad, Muhammad Ahmad, Sundus Huma, Shaheer Minhas, Abdul Wassey   +5 more
doaj   +2 more sources

Predicting gene expression changes from chromatin structure modification [PDF]

npj Systems Biology and Applications
Spatial organization of chromatin plays a critical role in gene transcription, but connecting population-averaged HiC data to functional outcomes remains a challenge.
Swayamshree Senapati, Inayat Ullah Irshad, Ajeet K. Sharma, Hemant Kumar   +3 more
doaj   +2 more sources