Results 91 to 100 of about 50,394 (243)

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions

Clinical Genetics, EarlyView.
The frequency and severity of congenital heart disease vary extensively in individuals with 22q11.22–23 distal deletions. Reduced gene dosage particularly within the low copy repeat (LCR22) D–E region including MAPK1 and HIC2 conveys risk for these defects.
Tanner J. Nelson, Daniel E. McGinn, T. Blaine Crowley, Lydia Rockart, Audrey Green, Victoria Giunta, Oanh Tran, Daniella Miller, Jeroen Breckpot, Ann Swillen, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Federica Pulvirenti, Bruno Marino, Beverly S. Emanuel, Elaine H. Zackai, Zhengdong D. Zhang, Elizabeth Goldmuntz, Erik Boot, Anne S. Bassett, Bernice E. Morrow, Donna M. McDonald‐McGinn   +22 more
wiley   +1 more source

Dimerization‐dependent NOTCH receptor transactivation unveils a class of highly selective NOTCH signalling inhibitors

The FEBS Journal, EarlyView.
NOTCH signalling is indispensable for tissue homeostasis and, consequently, corruption of its normal function promotes numerous diseases, including cancer. However, the development of targeted therapies has been hampered by inefficacy and overt toxicity. Here, we show that NOTCH receptor dimerization is necessary for receptor transactivation, which has
Xinxin Liu, Haijiang Wang, Gunja Mishra, Lin‐Ting Wu, Chao Li, Maarten van Dinther, Jin Liu, Manuel A.F.V. Gonçalves, Peter ten Dijke, David A. Baker   +9 more
wiley   +1 more source

Long‐Term Follow‐Up of Radiofrequency Slow Pathway Ablation for Atrioventricular Nodal Re‐Entrant Tachycardia: Late Outcomes

Journal of Cardiovascular Electrophysiology, EarlyView.
ABSTRACT Introduction Slow pathway radiofrequency ablation is an effective treatment for atrioventricular nodal re‐entrant tachycardia (AVNRT) but has been reported in some series to result in late atrioventricular block. We examined our local experience with a retrospective review. Methods A retrospective review of all patients undergoing slow pathway
Emma Yaakop, Stephen Browitt, Catherine Cruickshank, Judy Greenslade, Iain Melton, Matthew Daly, Geoffrey Clare, Ross Downey, Daniel Garofalo, Ian Crozier   +9 more
wiley   +1 more source

Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development

Journal of Anatomy, Volume 246, Issue 4, Page 616-630, April 2025.
Congenital heart disease (CHD) is the most common defect in live births. The role of cyclin‐dependent kinase (CDK13) in cardiogenesis and CHD was studied using a transgenic mouse model (Cdk13tm1b) carrying deletion of exons 3 and 4, causing loss of function.
Qazi Waheed‐Ullah, Anna Wilsdon, Aseel Abbad, Sophie Rochette, Frances Bu'Lock, Asma Ali Saed, Marc‐Phillip Hitz, J. David Brook, Siobhan Loughna   +8 more
wiley   +1 more source

Endothelial Notch1 Is Required for Proper Development of the Semilunar Valves and Cardiac Outflow Tract

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2016
BackgroundCongenital heart disease is the most common type of birth defect, affecting ≈2% of the population. Malformations involving the cardiac outflow tract and semilunar valves account for >50% of these cases predominantly because of a bicuspid aortic
Sara N. Koenig, Kevin Bosse, Uddalak Majumdar, Elizabeth M. Bonachea, Freddy Radtke, Vidu Garg   +5 more
doaj   +1 more source

The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley, Gary F. Sholler, Janine Smith, Gillian M. Blue   +3 more
wiley   +1 more source

Never say never

Journal of Hospital Medicine, EarlyView.
Gurpreet Dhaliwal, Jagmeet Dhingra, Tom Fraser, Leal Herlitz, James Pile   +4 more
wiley   +1 more source

Advances in cardiac devices and bioelectronics augmented with artificial intelligence

The Journal of Physiology, EarlyView.
Abstract figure legend Interfaces between the human heart, diagnostic bioelectronics, artificial intelligence, and clinical care. From left to right: Human heart and biosensor interface; representative waveforms of common diagnostic bioelectronic sensing modalities.
Charles Stark, Eric Rytkin, Andrei Alexandru Mircea, Igor R. Efimov   +3 more
wiley   +1 more source

Evaluating the Genetic Overlap Between Congenital Heart Disease and Neuroblastoma Risk

Pediatric Blood &Cancer, Volume 73, Issue 2, February 2026.
ABSTRACT Children with congenital heart disease (CHD) have elevated neuroblastoma (NB) risk, potentially due to shared neural crest origins. We analyzed rare exonic de novo single‐nucleotide variants in 702 CHD and 454 NB trios from the Neuroblastoma Epidemiology in North America Study, Gabriella Miller Kids First Program, and a published cohort. Seven
Ji Yun Tark, Alexander Renwick, Yao Yu, Aniko Sabo, Andrew F. Olshan, Sharon E. Plon, Chad D. Huff, Philip J. Lupo   +7 more
wiley   +1 more source

Ventricular pressure-volume loop and other heart function metrics can elucidate etiology of failure of TAVI and interventions

REC: Interventional Cardiology (English Ed.)
Aortic valve stenosis is one of the most acute and chronic cardiovascular disease conditions. Bicuspid aortic valve is the most common congenital heart abnormality and affected individuals have a 50% chance of developing severe aortic valve ...
Zahra Keshavarz-Motamed
doaj   +1 more source