Results 221 to 230 of about 5,255,725 (300)

Circulating Musclin is associated with skeletal muscle function and subclinical cardiac dysfunction in patients with cancer

open access: yesBritish Journal of Pharmacology, EarlyView.
Background and Purpose Musclin (osteocrin) is a skeletal muscle‐derived peptide that has been implicated in cardioprotective signalling pathways. Its relevance in cancer patients, who frequently experience muscle wasting and cardiotoxicity, remains unclear. This study aimed to determine whether circulating Musclin levels reflect functional capacity and
Jannek Brauer   +5 more
wiley   +1 more source

Genetic Spectrum of Non‐PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort

open access: yesClinical Genetics, EarlyView.
Noonan syndrome and related conditions are caused by variants in multiple genes. We analyzed 456 Russian patients using a 23‐gene panel and found disease‐causing variants in non‐PTPN11 genes in 85 cases. NF1, SOS1, BRAF, and SHOC2 explained half of these diagnoses.
Anna Orlova   +5 more
wiley   +1 more source

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border

open access: yesClinical Genetics, EarlyView.
Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart   +17 more
wiley   +1 more source

Chd4 and ThPOK cooperate to preserve structural and electrophysiological integrity of the adult heart through Sprr1a repression

open access: yesThe FEBS Journal, EarlyView.
Chd4/NuRD and ThPOK cooperate to maintain transcriptional repression and nuclear organization in adult cardiomyocytes. Chd4 loss reduces miR‐150‐5p, relieving repression of Sprr1a, while ThPOK loss further enhances Sprr1a activation, possibly through altered chromatin–lamina interactions.
Fadoua El Abdellaoui‐Soussi   +12 more
wiley   +1 more source

Trajectory of macrotroponin in a community cohort

open access: yesInternal Medicine Journal, EarlyView.
Abstract Background Cardiac troponin I (cTnI) is a biomarker for myocardial injury. However, macrotroponin, a complex of cTnI and endogenous cardiac troponin autoantibodies, may artefactually elevate cTnI levels with potential to mislead clinicians, leading to inappropriate investigation and management.
Duncan J. Campbell   +5 more
wiley   +1 more source

Integrated biomarker landscape for the early detection and management of calcific aortic valve disease. [PDF]

open access: yesEur J Clin Invest
Cook-Calvete A   +5 more
europepmc   +1 more source

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