Results 81 to 90 of about 305,611 (291)

Germline SDHB and SDHD mutations in pheochromocytoma and paraganglioma patients

Endocrine Connections, 2018
Pheochromocytoma and paragangliomas (PCC/PGL) are neuroendocrine tumors that arise from chromaffin cells of the adrenal medulla and sympathetic/parasympathetic ganglia, respectively.
Yiqiang Huang, Lin-ang Wang, Qiubo Xie, Jian Pang, Luofu Wang, Yuting Yi, Jun Zhang, Yao Zhang, Rongrong Chen, Weihua Lan, Dianzheng Zhang, Jun Jiang   +11 more
doaj   +1 more source

The gustin (CA6) gene polymorphism, rs2274333 (A/G), as a mechanistic link between PROP tasting and fungiform taste papilla density and maintenance [PDF]

, 2013
Taste sensitivity to PROP varies greatly among individuals and is associated with polymorphisms in the bitter receptor gene TAS2R38, and with differences in fungiform papilla density on the anterior tongue surface.
Atzori E, Cabras S, Calò C, Melis M, Muroni P, Nieddu M, Padiglia A, Sogos V, Tepper BJ, Tomassini Barbarossa I, Zonza A   +10 more
core   +1 more source

Cytokines Genotype‐Phenotype Correlation in Nonalcoholic Steatohepatitis [PDF]

Oxidative Medicine and Cellular Longevity, 2017
NASH consists in lipid accumulation in hepatocytes that trigger oxidative stress, secretion of proinflammatory cytokines leading to steatohepatitis (NASH). The study aimed to investigate the levels of proinflammatory (TNF‐α and IL‐6) along with anti‐inflammatory cytokine IL‐10 in patients with NASH and to correlate the cytokines’ level with their ...
Ioana Corina Bocsan, Mircea Vasile Milaciu, Raluca Maria Pop, Stefan Cristian Vesa, Lorena Ciumarnean, Daniela Maria Matei, Anca Dana Buzoianu   +6 more
openaire   +2 more sources

Systemic dysregulation of apolipoproteins in amyotrophic lateral sclerosis serum

FEBS Open Bio, EarlyView.
Amyotrophic lateral sclerosis (ALS) is a fatal disease that damages motor neurons. This study found that people with ALS show significant changes in blood fats and the proteins that carry them. Several apolipoproteins were higher, lipid balances were altered, and normal protein–lipid relationships were disrupted.
Finula I. Isik, Russell Pickford, Hannah C. Timmins, Olivier Piguet, Glenda M. Halliday, Matthew C. Kiernan, Woojin Scott Kim   +6 more
wiley   +1 more source

Genetic Profiling and Phenotype Spectrum in a Chinese Cohort of Pediatric Cardiomyopathy Patients

Journal of Cardiovascular Development and Disease
This study examines pediatric cardiomyopathies by analyzing genetic and clinical data from 55 patients (2021–2024) at Beijing Anzhen Hospital. Four subtypes were studied: dilated (DCM, 24), hypertrophic (HCM, 22), arrhythmogenic right ventricular (ARVC ...
Guofeng Xing, Li Chen, Lizhi Lv, Guanyi Xu, Yabing Duan, Jiachen Li, Xiaoyan Li, Qiang Wang   +7 more
doaj   +1 more source

Novel mutations in Serbian MEN1 patients: Genotype-phenotype correlation [PDF]

Journal of Medical Biochemistry, 2019
Background: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant cancer syndrome characterized by the occurrence of primary hyperparathyroidism (PHPT), pituitary adenoma (PA) and pancreatic neuroendocrine tumor (pNET).
Isailović Tatjana, Miličević Ivana, Macut Đuro, Petakov Milan, Ognjanović Sanja, Popović Bojana, Bozić-Antić Ivana, Bogavac Tamara, Elezović-Kovačević Valentina, Dušan Ilić, Damjanović Svetozar   +10 more
doaj  

Gene mutations in sporadic lymphangioleiomyomatosis and genotype–phenotype correlation analysis

BMC Pulmonary Medicine, 2022
Background Sporadic lymphangioleiomyomatosis (S-LAM) is a rare neoplasm with heterogeneous clinical features that is conventionally considered to be related to TSC2.
Jiannan Huang, Wenshuai Xu, Peng Liu, Yaping Liu, Cheng Shen, Song Liu, Yani Wang, Jun Wang, Tengyue Zhang, Yudi He, Chongsheng Cheng, Luning Yang, Weihong Zhang, Xinlun Tian, Kai-Feng Xu   +14 more
doaj   +1 more source

New era of cystic fibrosis: full mutational analysis and personalized therapy [PDF]

, 2017
Despite its apparently simple genetics, cystic fibrosis (CF) is a rather complex genetic disease. A lot of variability in the steps of the path from the cystic fibrosis transmembrane conductance regulator (CFTR ) gene to the clinical manifestations ...
Lucarelli, Marco
core   +1 more source

Optimizing photoactivation of PA‐mCherry for optical pooled CRISPR screens

FEBS Open Bio, EarlyView.
Photoactivatable PA‐mCherry finds widespread use to optically tag individual cells. However, confocal 405 nm UV laser‐scanning (normal scan) is much less efficient than widefield UV illumination, limiting the use of PA‐mCherry on confocal instruments. We remedy this limitation by reporting that rapid and repeated confocal scanning with a low‐intensity,
Sravasti Mukherjee, Giulia Zanetti, Bram van den Broek, Kees Jalink   +3 more
wiley   +1 more source

Variant‐Specific Late Gadolinium Enhancement Patterns Influence Clinical Outcomes in LMNA‐Related Cardiomyopathy

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Disease‐causative variants in LMNA‐encoded lamin A/C cause a genetic cardiomyopathy characterized by atrioventricular block, atrial fibrillation, ventricular arrhythmias, and systolic dysfunction.
Matteo Castrichini, Ramin Garmany, Konstantinos C. Siontis, Jeremy D. Collins, John P. Bois, Naveen L. Pereira, David J. Tester, Martina Gluscevic, Trung Huynh, Raquel Neves, Andrew N. Rosenbaum, Michael J. Ackerman, John R. Giudicessi   +12 more
doaj   +1 more source