Results 101 to 110 of about 311,439 (263)

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

Descriptive, stratigraphic, and morpho‐functional study of the myocardium and myocardial bridges in domestic pig hearts

The Anatomical Record, EarlyView.
Abstract The heart is the central organ of the cardiovascular system. The myocardium is composed of a three‐dimensional network of fibers arranged in clockwise and counterclockwise helices, which are essential for proper cardiac contraction. This study aimed to describe the stratigraphic and morpho‐functional pattern of the porcine myocardium to ...
Mauricio Oliveira da Silva, Henrique Inhauser Riceti Magalhães, Rafael Garabet Agopian, Edson Aparecido Liberti   +3 more
wiley   +1 more source

Genetically engineered biomimetic ATP-responsive nanozyme for the treatment of cardiac fibrosis

Journal of Nanobiotechnology
Background Cardiac fibrosis plays a critical role in the progression of various forms of heart disease, significantly increasing the risk of sudden cardiac death.
Xueli Zhao, Yuze Qin, Bowen Li, Yue Wang, Jiao Liu, Bo Wang, Jia Zhao, Jiaqi Yin, Lanlan Zhang, Jing Li, Junzhe Huang, Kun Chen, Liwen Liu, Yuanming Wu   +13 more
doaj   +1 more source

Disulfide Bond–Modified Proteomics Reveals the Effects of Riboflavin on Protein Folding Dynamics

Animal Research and One Health, EarlyView.
Riboflavin deficiency impairs oxidative protein folding, causing ER misfolded protein accumulation, CHOP activation, and apoptosis, revealing a role of riboflavin in proteostasis. ABSTRACT Riboflavin is a crucial micronutrient essential for maintaining cellular homeostasis, acting as an important precursor for flavoproteins that utilize flavin ...
Bo Zhang, Shuisheng Hou, Jing Tang
wiley   +1 more source

Is Hypertrophic Cardiomyopathy Always a Familial and Inherited Disease?

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2023
Jiri Bonaventura, Ethan J. Rowin, Martin S. Maron, Barry J. Maron   +3 more
doaj   +1 more source

Cardiomyopathies: Current Treatment and Future Options

The reprint highlights different forms of cardiomyopathy, such as RBM20, filamin C, and lamin A/C cardiomyopathy. Diagnostic and new treatment options are presented in arrhythmogenic, hypertrophic, dilated, and restrictive cardiomyopathy.

core   +1 more source

Cytokine Pathways Driving Diverse Tissue Pathologies in Rheumatoid Arthritis

Arthritis &Rheumatology, EarlyView.
Rheumatoid arthritis (RA) is a complex systemic disorder characterized primarily by articular inflammation and destruction with associated functional loss and reduced quality of life. RA is also associated with extra‐articular disease, such as that of the lung, with potentially devastating clinical consequences. The critical importance of comorbidities,
Aurelie Najm, Lyn D. Ferguson, Iain B. McInnes   +2 more
wiley   +1 more source

Human Fibroblast–Myeloid Cell Tissue Atlas Across the Lungs, Synovium, Skin, and Heart

Arthritis &Rheumatology, EarlyView.
Objective The availability of single‐cell RNA sequencing (scRNAseq) data in different tissues and disease states provides an opportunity to compare cellular subsets and identify common and unique cellular activation. In this study, we aimed to characterize shared and tissue‐specific myeloid and stromal phenotypes and to uncover key cellular subtypes ...
Lucy MacDonald, Katerina Apostolopoulou, Olympia Hardy, Melpomeni Toitou, Gabriela Kania, Przemyslaw Blyszczuk, Raphael Micheroli, Thomas D. Otto, Mariola Kurowska‐Stolarska, Caroline Ospelt   +9 more
wiley   +1 more source

Age‐related differences in hydroxychloroquine‐associated adverse events: A pharmacovigilance study based on the FDA Adverse Event Reporting System

British Journal of Clinical Pharmacology, EarlyView.
Aims This real‐world pharmacovigilance study utilizes FDA Adverse Event Reporting System (FAERS) data (2004–2024) to characterize age‐related disparities in hydroxychloroquine (HCQ)‐associated adverse events (AEs), addressing gaps in age‐stratified risk assessment. Methods Disproportionality analysis (reporting odds ratios, RORs) and parametric Weibull
Guanghan Sun, Jingrong Yang, Lei Wan, Xia Xu, Jing Wang   +4 more
wiley   +1 more source

Future Role of New Negative Inotropic Agents in the Era of Established Surgical Myectomy for Symptomatic Obstructive Hypertrophic Cardiomyopathy

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2022
Barry J. Maron, Martin S. Maron, Mark V. Sherrid, Ethan J. Rowin   +3 more
doaj   +1 more source