Results 41 to 50 of about 825,443 (336)

Measuring myocardial extracellular volume of the right ventricle in patients with congenital heart disease

open access: yesScientific Reports, 2021
The right ventricle´s (RV) characteristics—thin walls and trabeculation—make it challenging to evaluate extracellular volume (ECV). We aimed to assess the feasibility of RV ECV measurements in congenital heart disease (CHD), and to introduce a novel ECV ...
Nadya Al-Wakeel-Marquard   +9 more
doaj   +1 more source

Coarctation of the Aorta: Diagnosis and Management

open access: yesDiagnostics, 2023
Coarctation of the aorta (CoA) accounts for approximately 5–8% of all congenital heart defects. Depending on the severity of the CoA and the presence of associated cardiac lesions, the clinical presentation and age vary.
Sadaf Raza   +10 more
doaj   +1 more source

Heart transplantation in children with congenital heart disease [PDF]

open access: yes, 1932
ObjectivesThe aim of this study was to describe heart transplantation in children with congenital heart disease and to compare the results with those in children undergoing transplantation for other cardiac diseases.BackgroundReports describe decreased ...
Daphne T. Hsu   +30 more
core   +1 more source

The newfound relationship between extrachromosomal DNAs and excised signal circles

open access: yesFEBS Letters, EarlyView.
Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley   +1 more source

Perfusion techniques for an 800 g premature neonate undergoing Arterial Switch Procedure for Transposition of the Great Arteries★

open access: yesThe Journal of ExtraCorporeal Technology
Early cardiac surgery in neonates and infants with congenital heart disease has been performed since the middle to late years of the twentieth century.
Owens Richard   +6 more
doaj   +1 more source

Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]

open access: yes, 2018
The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
core   +1 more source

Homologous expression and purification of human HAX‐1 for structural studies

open access: yesFEBS Open Bio, EarlyView.
This research protocol provides detailed instructions for cloning, expressing, and purifying large quantities of the intrinsically disordered human HAX‐1 protein, N‐terminally fused to a cleavable superfolder GFP, from mammalian cells. HAX‐1 is predicted to undergo posttranslational modifications and to interact with membranes, various cellular ...
Mariana Grieben
wiley   +1 more source

A simple screening method for determining knowledge of the appropriate levels of activity and risk behaviour in young people with congenital cardiac conditions [PDF]

open access: yes, 2007
Objective: To assess a novel method for assessing risk and providing advice about activity to children and young people with congenital cardiac disease and their parents. Design and setting: Questionnaire survey in outpatient clinics at a tertiary centre
Kendall, L   +3 more
core   +1 more source

Molecular determinants of signal transduction in tropomyosin receptor kinases

open access: yesFEBS Open Bio, EarlyView.
Tropomyosin receptor kinases control critical neuronal functions, but how do the same receptors produce diverse cellular responses? This review explores the structural mechanisms behind Trk signaling diversity, focusing on allosteric modulation and ligand bias.
Giray Enkavi
wiley   +1 more source

Analysis of Treacher Collins syndrome 4‐associated mutations in Schizosaccharomyces pombe

open access: yesFEBS Open Bio, EarlyView.
Fission yeast models carrying Treacher Collins syndrome type 4‐associated mutations reveal that impaired processivity of RNA polymerase I leads to defective rRNA transcription. This study highlights the essential role of a conserved arginine residue in Pol I elongation and provides mechanistic insight into the pathogenesis of ribosomopathies.
Kei Kawakami, Hiroaki Kato
wiley   +1 more source

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