Results 21 to 30 of about 50,403 (142)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The key diagnostic criterion for hypertrophic cardiomyopathy is the presence of otherwise unexplained hypertrophy. Current definitions of HCM rely on specific thresholds to establish a diagnosis, while guideline directed risk stratification algorithms take its magnitude into consideration.
Thomas D. Gossios +9 more
wiley +1 more source
The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello +10 more
wiley +1 more source
Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier +2 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.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
Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady +10 more
wiley +1 more source
Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases
Animal Models and Experimental Medicine, EarlyView.Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam +4 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.A modified approach was developed to accurately identify the isovolumetric relaxation time (IVRT) using an apical three‐chamber view. Compared with conventional echocardiography, isovolumic relaxation strain imaging (IVSI) helps to detect the earlier alternations of diastolic function in transverse aortic constriction (TAC) mice.
Jingjing Liang +3 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.This study investigated the impact of age and sex on cardiac phenotypes in healthy adult C57BL/6J mice using echocardiography and histopathological analyses. Findings revealed that female mice demonstrated more pronounced global cardiac chamber dilation during aging.
Shuang Wen +6 more
wiley +1 more source