Results 41 to 50 of about 50,403 (142)

Transcriptomic signatures reveal systemic adaptations and immune modulation in response to training and competitive racing in horses

open access: yesEquine Veterinary Journal, EarlyView.
Abstract Background The molecular mechanisms underlying adaptation to physical exertion and racing stress in horses remain incompletely understood. Peripheral blood transcriptomics offers a minimally invasive method to monitor systemic responses to exercise and identify biomarkers of adaptation or overload. Objectives To evaluate transcriptomic changes
Izabela Dąbrowska   +4 more
wiley   +1 more source

Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers

open access: yesJournal of the American Heart Association, EarlyView., 2021
Background Impaired myocardial blood flow (MBF) in the absence of epicardial coronary disease is a feature of hypertrophic cardiomyopathy (HCM). Although most evident in hypertrophied or scarred segments, reduced MBF can occur in apparently normal segments.
Rebecca K. Hughes   +14 more
wiley   +1 more source

Alogliptin Reduces Oxidative Stress in Cardiomyocytes and Ameliorates Diabetic Cardiomyopathy via the AURKB/NLGN2 Signaling

open access: yesThe Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Diabetic cardiomyopathy (DCM) is a common complication of diabetes mellitus. This study investigated the effects of alogliptin on DCM and its underlying mechanisms. A DCM model was constructed and treated with alogliptin. Downstream targets of alogliptin were screened using bioinformatics analysis.
Li‐Jing Jiao   +7 more
wiley   +1 more source

Deep‐Learning‐Based Image Reconstruction to Improve End‐Diastolic and Systolic Cardiac T1 Mapping

open access: yesMagnetic Resonance in Medicine, EarlyView.
ABSTRACT Purpose To develop an image reconstruction method that enables increased spatial resolution cardiac T1 mapping in both the end‐diastolic and systolic phase, that shows high T1 agreement with the clinical standard. The resolution gain is achieved by increasing the acceleration rate of MOLLI single‐shot images to R = 4, while maintaining a ...
Daniel Amsel   +10 more
wiley   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa   +7 more
wiley   +1 more source

Heart failure in two male patients with late‐onset Fabry mutation (IVS4 + 919G > A)

open access: yes
ESC Heart Failure, Volume 12, Issue 2, Page 1508-1513, April 2025.
Xufei Yang   +3 more
wiley   +1 more source

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas   +7 more
wiley   +1 more source

NONO‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao   +13 more
wiley   +1 more source

Hypertrophic Cardiomyopathy as a Key Feature of MRAS‐Related Noonan Syndrome: New Case and Comprehensive Literature Review

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Noonan syndrome (NS) is a rare multisystemic condition among the RASopathy group, characterized by a broad phenotypic spectrum and genetic variability. It results from pathogenic variants in genes regulating the RAS/MAPK pathway, affecting cell proliferation and differentiation.
Romain Martineau   +10 more
wiley   +1 more source

Inhibition of GATA4 and MEF2C Induced by Hypo‐Acetylation of Histone H3 Partly Reverse Heart Failure in Mice

open access: yesPediatric Discovery, EarlyView.
Embryonic GATA4 and MEF2C may contribute to the development of heart failure while Nkx2.5 may not be involved in the progression. Treatment with the histone acetylation inhibitor curcumin can reduce the expression levels of GATA4 and MEF2C by inhibiting acetylation at H3K4, H3K9, and H3K27 sites, leading to an overall improvement for heart failure ...
Xinru Gan   +4 more
wiley   +1 more source

Home - About - Disclaimer - Privacy