Results 91 to 100 of about 607,470 (403)

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

Mitochondrial ROS Formation in the Pathogenesis of Diabetic Cardiomyopathy

Frontiers in Cardiovascular Medicine, 2020
Diabetic cardiomyopathy is a result of diabetes-induced changes in the structure and function of the heart. Hyperglycemia affects multiple pathways in the diabetic heart, but excessive reactive oxygen species (ROS) generation and oxidative stress ...
N. Kaludercic, F. Di Lisa
semanticscholar   +1 more source

Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes

JAMA cardiology, 2021
Key Points Question In patients diagnosed with atrial fibrillation before 66 years of age, what is the prevalence of disease-associated variants in susceptibility genes for inherited cardiomyopathy and arrhythmia syndromes? Findings In this cohort study,
Z. Yoneda, K. Anderson, Joseph A. Quintana, M. O’Neill, Richard A. Sims, A. Glazer, C. Shaffer, Diane M. Crawford, T. Stricker, Fei Ye, Q. Wells, L. Stevenson, G. Michaud, D. Darbar, S. Lubitz, P. Ellinor, D. Roden, M. B. Shoemaker   +17 more
semanticscholar   +1 more source

Peripartum cardiomyopathy: diagnosis and management [PDF]

, 2017
No abstract ...
Coats, Caroline J., Dalzell, Jonathan R., Jackson, Alice M., Jhund, Pardeep S., Petrie, Mark C., Walker, Niki L.   +5 more
core   +1 more source

The Regulation of Trace Metal Elements in Cancer Ferroptosis

Advanced Biology, EarlyView.
The induction of ferroptosis inhibits tumor growth, enhances anticancer efficacy, and overcomes drug resistance. Recent evidence shows nonferrous metal elements play a role in ferroptosis. This review focuses on how trace metals regulate ferroptosis processes like iron accumulation, lipid peroxidation, and antioxidant defense.
Xiaoyan Wang, Yuanyuan Xue, Lei Chang, Xuena Zhu, Wenjun Liu, Tingbo Liang   +5 more
wiley   +1 more source

[2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy].

Kardiologia polska, 2014
© 2015, Silicea-Poligraf. All Rights Reserved. The Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
Perry M. Elliott, A. Anastasakis, M. Borger, Martin Borggrefe, F. Cecchi, P. Charron, A. Hagège, A. Lafont, Giuseppe Limongelli, H. Mahrholdt, W. McKenna, J. Mogensen, P. Nihoyannopoulos, S. Nistri, P. Pieper, B. Pieske, C. Rapezzi, F. Rutten, Christoph Tillmanns, Hugh Watkins   +19 more
semanticscholar   +1 more source

Aging on Chip: Harnessing the Potential of Microfluidic Technologies in Aging and Rejuvenation Research

Advanced Healthcare Materials, EarlyView.
This review highlights recent advances in microfluidic technologies for modeling human aging and age‐related diseases. It explores how organ‐on‐chip platforms improve physiological relevance, enable rejuvenation strategies, facilitate drug screening, detect senescent cells, and identify biomarkers.
Limor Zwi‐Dantsis, Vignesh Jayarajan, George M. Church, Roger D. Kamm, João Pedro de Magalhães, Emad Moeendarbary   +5 more
wiley   +1 more source

Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy

Circulation, 2018
Background: A better understanding of the factors that contribute to heterogeneous outcomes and lifetime disease burden in hypertrophic cardiomyopathy (HCM) is critically needed to improve patient management and outcomes.
Carolyn Y. Ho, S. Day, E. Ashley, M. Michels, A. Pereira, D. Jacoby, Allison L. Cirino, J. Fox, N. Lakdawala, J. Ware, C. Caleshu, A. Helms, S. Colan, F. Girolami, F. Cecchi, C. Seidman, G. Sajeev, J. Signorovitch, Eric M. Green, I. Olivotto   +19 more
semanticscholar   +1 more source

GDC: Integration of Multi‐Omic and Phenotypic Resources to Unravel the Genetic Pathogenesis of Hearing Loss

Advanced Science, EarlyView.
Overview of the Genetic Deafness Commons (GDC), integrating data from the Chinese Deafness Genetics Consortium (CDGC) and 51 public databases. The GDC provides tools for variant search, functional predictions, and gene‐disease visualization, offering insights into 201 hearing loss genes and facilitating novel gene discovery and clinical applications ...
Hui Cheng, Xuegang Wang, Mingjun Zhong, Jia Geng, Wenjian Li, Kanglu Pei, Jing Wang, Lanchen Wang, Yu Lu, Jing Cheng, Fengxiao Bu, Huijun Yuan   +11 more
wiley   +1 more source

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

European Heart Journal, 2014
2D : two-dimensional 99mTc-DPD : 99mTechnetium-3,3-diphosphono- 1,2-propanodi-carboxylic acid ACE : angiotensin-converting enzyme AF : atrial fibrillation AL : amyloid light chain AR : aortic regurgitation ARB : angiotensin receptor blocker ATTR ...
Perry M. Elliott, A. Anastasakis, Michael A. Borger, M. Borggrefe, Franco Cecchi, Philippe Charron, A. Hagège, Antoine Lafont, G. Limongelli, Heiko Mahrholdt, William J. McKenna, Jens Mogensen, P. Nihoyannopoulos, Stefano Nistri, Petronella G. Pieper, Burkert Pieske, Claudio Rapezzi, Frans H. Rutten, Christoph Tillmanns, Hugh Watkins   +19 more
semanticscholar   +1 more source