Results 291 to 300 of about 101,269 (365)

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 502-510, February 2026.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

Arrhythmias across the tree of life: comparative insights for human electrophysiology. [PDF]

Front Cardiovasc Med
Natterson-Horowitz B, Wright K, Van Steenkiste G, Decloedt A, Gagnon AL, Cai X, Mazmanian A.   +6 more
europepmc   +1 more source

Deep cervical lymphatic–venous anastomosis attenuates cognitive dysfunction and biomarker abnormalities in severe Alzheimer's disease: A prospective single‐arm study

Alzheimer's &Dementia, Volume 22, Issue 2, February 2026.
Abstract INTRODUCTION This study evaluated the efficacy of deep cervical lymphatic–venous anastomosis (dcLVA) for severe Alzheimer's disease (AD). METHODS A total of 139 severe AD patients undergoing dcLVA were enrolled, and changes in cognitive function and biomarkers were evaluated by comparing preoperative measures with postoperative outcomes over a
Xiaohong Fu, Jing Zhang, Qiuxia Xiao, Tingting Li, Qijun Li, Shaofu Zhang, Wen Zeng, Min Gong, Pan Cai, Zhaojian Deng, Xuan Zhang, Yuanjun Xin, Liping Su, Xiaohe Tian, Kaifeng Wu, Liulin Xiong   +15 more
wiley   +1 more source

Temporal Variability of ECG Risk Markers and Clinical Outcomes in Non-Dilated Left Ventricular Cardiomyopathy. [PDF]

J Clin Med
Milaras N, Pamporis K, Gatzoulis KA, Karakasis P, Kostakis P, Sotiriou Z, Xintarakou A, Laina A, Karelas D, Vlachomitros D, Xenogiannis I, Archontakis S, Vlachopoulos C, Toutouzas K, Tsioufis K, Sideris S.   +15 more
europepmc   +1 more source

How to deal with cardiac arrhythmia as an issue in the high performance horse [PDF]

, 2014
van Loon, Gunther
core   +1 more source

Engineering Ultrasound Contrast Agents for Targeted Therapeutics: A Theranostic Approach to Drug Delivery, Gene Therapy, and Immunomodulation

Advanced NanoBiomed Research, Volume 6, Issue 2, February 2026.
Ultrasound contrast agents, including microbubbles and nanobubbles, transform imaging and targeted therapy through precise engineering of size, shell composition, and surface properties. This review explores how these innovations enable tissue‐specific delivery, enhance therapeutic efficacy, and extend applications from vascular imaging to tumor ...
Ashkan Seza, Kimia Mozahheb Yousefi, Sara Minaeian   +2 more
wiley   +1 more source

Heart failure caused by Opitz syndrome: a case report and literature review. [PDF]

BMC Cardiovasc Disord
Wang Y, Wu X, Wang K.
europepmc   +1 more source

Successful ablation of premature ventricular complexes arising from the posteromedial papillary muscle using Pulse Field Ablation

Nestor Vasquez, Jonathan Chrispin
openalex   +1 more source

Neurogenesis and the Epigenetic Landscape: Role of Histone Modifications and Chromatin Remodeling

Brain and Behavior, Volume 16, Issue 2, February 2026.
Histone methylation and acetylation modulate gene expression by inducing chromatin condensation or relaxation, which in turn regulates transcriptional activity and impacts neurogenesis. ABSTRACT Aims The purpose of this review is to examine how epigenetic regulation particularly chromatin modification and histone methylation controls gene expression ...
Degisew Yinur Mengistu, Biniam Moges Eskeziyaw   +1 more
wiley   +1 more source

Analysis of Diagnostic Clues in a Rare Case of Ventricular Preexcitation Masking Occlusive Myocardial Infarction of the Left Anterior Descending Artery. [PDF]

Ann Noninvasive Electrocardiol
Ni H, Zhang X, Gao Z.
europepmc   +1 more source