Results 61 to 70 of about 282,907 (338)
The loss of Ubiquitin Specific Peptidase 26 (USP26) in osteoblasts results in decreased bone formation, as well as multi‐organ fibrosis associated with insulin resistance (IR). Mechanistically, the absence of USP26 reduces glycolysis and lactate accumulation, leading to decreased histone H3 lysine 18 lactylation (H3K18LA) in the promoter region of KH ...
Jiyuan Tang +9 more
wiley +1 more source
Background: Hypertrophic cardiomyopathy (HCM) is characterized by myocyte hypertrophy and fibrosis. Studies in two mouse models (R92W-TnT/R403Q-MyHC) at early HCM stage revealed upregulation of endothelin (ET1) signaling in both mutants, but TGFβ ...
Yamin Liu +17 more
doaj +1 more source
Nap1l4a is required in erythropoiesis and hypoxia responses via physical interaction with Klf1 and Scl to recruit the histone variant H2A.Z. This facilitates its associated cis‐regulatory element (CRE) remodeling and the consequent chromatin assembly, and activates the transcription of erythroid lineage‐specific genes.
JiaHao Shi +10 more
wiley +1 more source
General schematic of the approach. Abstract Conventional Silver/Silver Chloride (Ag/AgCl) electrodes remain the clinical standard for electrophysiological monitoring but are hindered by poor skin conformity, mechanical rigidity, and signal degradation, particularly under motion or sweat.
Nazmi Alsaafeen +11 more
wiley +1 more source
Background: In symptomatic patients with hypertrophic cardiomyopathy (HCM), eliciting left ventricular outflow tract obstruction (LVOTO) is critical. A self-directed Valsalva (SDV) and exercise (EX) are frequent tools used to unmask obstruction in HCM ...
Aakash Bavishi, MD, MSCI +9 more
doaj +1 more source
Schematic diagram depicting the proposed signaling mechanisms underlying the effects of FBXL4 in the setting of cardiac hypertrophy. Under hypertrophic stimulation, cardiomyocytes‐specific overexpression FBXL4 maintains sarcomere integrity and cardiac function by enhancing K48‐linked ubiquitinated degradation of PFN1 at the K70 site.
Xingda Li +11 more
wiley +1 more source
Background Mavacamten is commercially approved for use in symptomatic patients with obstructive hypertrophic cardiomyopathy. This study evaluated its real‐world impact on symptoms, echocardiographic changes, and the need for septal reduction therapy in ...
Milind Y. Desai +11 more
doaj +1 more source
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim +9 more
wiley +1 more source
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes
Background: Genetic testing for families with hypertrophic cardiomyopathy (HCM) provides a significant opportunity to improve care. Recent trends to increase gene panel sizes often mean variants in genes with questionable association are reported to ...
J. Ingles +23 more
semanticscholar +1 more source
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou +6 more
wiley +1 more source

