Results 101 to 110 of about 484,321 (343)

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Naxos Disease [PDF]

, 2005
Since 1995, according to the World Health Organisation’s classification of cardiomyopathies, Naxos disease has been considered as the recessive form of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C).1 It is a stereotype association of
Protonotarios, Nikos, Tsatsopoulou, Adalena   +1 more
core   +2 more sources

Identification of ferroptosis‐related genes involved in chronic obstructive pulmonary disease based on bioinformatics analysis

Animal Models and Experimental Medicine, EarlyView.
The design of the entire paper. Green part represents the bioinformatics analysis approach. Yellow part represents the ideas of animal experiment. Abstract Background Chronic obstructive pulmonary disease (COPD) is a type of chronic respiratory disease.
Xuejing Luan, Jinghui Xie, Lu Zhang, Xiao Ma, Lichangtian Jiao, Jie Zhu   +5 more
wiley   +1 more source

Changes in left atrial deformation in hypertrophic cardiomyopathy: Evaluation by vector velocity imaging. [PDF]

, 2012
OBJECTIVES: Hypertrophic cardiomyopathy (HCM) represents a generalized myopathic process affecting both ventricular and atrial myocardium. We assessed the global and regional left atrial (LA) function and its relation to left ventricular (LV) mechanics ...
Badran, HM, Faheem, N, Hassan, H, Nazmy, A, Saadan, H, Soltan, G, Yacoub, MH   +6 more
core   +2 more sources

Continuous electrocardiogram monitoring in porcine model of myocardial ischemia reperfusion

Animal Models and Experimental Medicine, EarlyView.
Wearable technology for continuous electrocardiogram monitoring can be utilized in porcine models of disease. Abstract As cardiovascular disease is the leading cause of global mortality, innovative animal models are vital to demonstrating the translational value of experimental discoveries. Investigations focused on myocardial remodeling after ischemia
Nathaniel Hyams, Roxanne Swagel, Sharon Thomas, Rupak Mukherjee, Alicia Braxton Hickman, Daniel Eldridge, Kristine Helke, Ying Mei, Jean Marie Ruddy   +8 more
wiley   +1 more source

Systemic Hypertension and Impaired Glucose Tolerance Are Independently Correlated to the Severity of the Acromegalic Cardiomyopathy¹ [PDF]

, 2000
Annamaria Colao, Roberto Baldelli, Paolo Marzullo, Elisabetta Ferretti, Diego Ferone, Patrizia Gargiulo, Mario Petretta, Guido Tamburrano, Gaetano Lombardi, Antonio Liuzzi   +9 more
openalex   +1 more source

Cats with thermal burn injuries from California wildfires show echocardiographic evidence of myocardial thickening and intracardiac thrombi. [PDF]

, 2020
Recent increases in the prevalence and severity of wildfires in some regions have resulted in an increased frequency of veterinary burn patients. Few studies exist regarding diagnostics and management of burn wounds in veterinary patients and current ...
Epstein, Steven E, Gunther-Harrington, Catherine T, Li, Ronald HL, Sharpe, Ashley N, Stern, Joshua A   +4 more
core  

OPA1 mutation and late-onset cardiomyopathy: mitochondrial dysfunction and mtDNA instability. [PDF]

, 2012
BackgroundMitochondrial fusion protein mutations are a cause of inherited neuropathies such as Charcot-Marie-Tooth disease and dominant optic atrophy.
Bers, Donald M, Chen, Le, Chiamvimonvat, Nipavan, Cortopassi, Gino, Davies, Vanessa, Knowlton, Anne A, Liu, Tingting, Lu, Xiyuan, Tomilov, Alexey A, Tran, Alice, Votruba, Marcela   +10 more
core   +2 more sources

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

Annals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi, Kensho Sumi, Shuichi Tanifuji, Shogo Komaki, Asuka Kitamura, Meiko Maeda, Daiki Yashita, Atsushi Sudo, Takashi Matsukawa, Masashi Hamada, Wataru Satake, Shoji Tsuji, Tatsushi Toda   +16 more
wiley   +1 more source

Meta-Analyses of Septal Reduction Therapies for Obstructive Hypertrophic Cardiomyopathy [PDF]

, 2010
Robert A. Leonardi, E. Kransdorf, David L. Simel, Andrew Wang   +3 more
openalex   +1 more source