Circulation 2004 Jul;110(3):e15-8
Division of Maternal-Fetal Medicine, University of Kansas Medical Center, Kansas, USA.
Heart Rhythm 2021 Apr 12. Epub 2021 Apr 12.
Cellular and Molecular Arrhythmia Research Program, Division of Cardiovascular Medicine, Department of Medicine, University of Wisconsin-Madison, WI. Electronic address:
Potassium inward rectifier channel Kir2 is an important component of terminal cardiac repolarization and resting membrane stability. This functionality is part of balanced cardiac excitability and is a defining feature of excitable cardiac membranes. "Gain"- or "loss-of-function" mutations in KCNJ2, the gene encoding Kir2. Read More
J Bone Miner Res 2021 Apr 15. Epub 2021 Apr 15.
Department of Biomedical and Molecular Sciences, Queen's University, Kingston, ON, Canada, K7L3N6.
Genetic causes of vitamin D-related hypercalcemia are known to involve mutation of 25-hydroxyvitamin D-24-hydroxylase CYP24A1 or the sodium phosphate co-transporter SLC34A1; which result in excessive 1,25-(OH) D hormonal action. However, at least 20% of idiopathic hypercalcemia (IH) cases remain unresolved. In this case-control study, we used precision vitamin D metabolite profiling based on LC-MS/MS of an expanded range of vitamin D metabolites - to screen German and French cohorts of hypercalcemia patients, to identify patients with altered vitamin D metabolism where involvement of CYP24A1 or SLC34A1 mutation had been ruled out, and possessed normal 25-OH-D :24,25-(OH) D ratios. Read More
Respir Med Case Rep 2021 19;33:101393. Epub 2021 Mar 19.
Division of Respiratory Medicine, Center for Respiratory Diseases, National Hospital Organization Kyoto Medical Center, 1-1 Fukakusa-Mukaihata, Fushimi-Ku, Kyoto, Japan.
Lung cancer patients harbouring driver oncogene alterations are markedly responsive to molecular target agents, such as (), tyrosine kinase inhibitor (TKI), and ()-TKI. We encountered an exceptionally rare case, harbouring both mutation and fusion gene, and suffering from severe disseminated intravascular coagulation. In this case report, we present two notable points. Read More
J Cancer 2021 10;12(9):2777-2786. Epub 2021 Mar 10.
Department of Endocrinology and Metabolism, The Fourth People's Hospital of Shenyang; 20 Huanghe South st, Huanggu District, Shenyang,China.
Proinflammatory factor tumor necrosis factor-α (TNF-α) is an important inflammatory mediators in tumor microenvironment and autoimmune diseases, it is highly expressed in many solid tumors and tumor microenvironment, showing a tumor promoting role. However, the molecular mechanisms underlying TNF-α-increased invasion of thyroid cancer are still not fully understood. In order to explore whether TNF-α plays a key role in the process of epithelial mesenchymal transition (EMT) in papillary thyroid carcinoma (PTC), we used TNF-α to induce EMT in different PTC cell lines, and observed the expression of different transcription factors and signal pathways. Read More
Cancer Manag Res 2021 7;13:3055-3065. Epub 2021 Apr 7.
Department of Breast Cancer, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Guangzhou, Guangdong, People's Republic of China.
Purpose: This study aimed to investigate AKT gene mutation status in Chinese breast cancer patients.Methods: The study included 411 breast cancer patients hospitalized in Guangdong Provincial People's Hospital (GDPH) from June 1, 2017 to September 27, 2018. Mastectomy or breast conserving surgery was performed, and tissue samples were subjected to next-generation sequencing (NGS) to determine AKT gene mutation status. Read More