Results 161 to 170 of about 53,437 (286)

Farnesyltransferase Deficiency in Cardiomyocytes Initiates Senescence and Contributes to Cardiac Fibrosis

Advanced Science, Volume 13, Issue 26, 8 May 2026.
Lipid overload suppresses SREBF2‐mediated FNTB expression, leading to defective Lamin A maturation and nuclear envelope instability. This nuclear catastrophe triggers a pro‐fibrotic senescence program in cardiomyocytes. Notably, restoring nuclear integrity via AAV9‐based gene therapy effectively attenuates cardiac remodeling, identifying the ...
Yuxiao Chen, Lian Lou, Xuan Zhang, Lin Yan, Qi Zhang, Wen Shi, Jie Ding, Xu Lin, Rong Jiang, Shuo Liu, Thida Sok, Pengli Wang, Yun Mou, Jie Han, Shenjiang Hu, Xiaogang Guo, Jian Yang   +16 more
wiley   +1 more source

Brugada Syndrome: New Implications for Heterozygous Carriers of the Pathogenic SCN5A c.689T>C(p.Ile230Thr) Variant

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1083-1086, May 2026.
ABSTRACT Pathogenic variants in the SCN5A gene and its subunits have been identified in individuals with Brugada Syndrome. One such SCN5A variant, c.689T>C(p.Ile230Thr), was previously reported as disease‐causing only in homozygous individuals, with heterozygous carriers being unaffected.
Shayla Shojaat, Benjamin Hale, Taylor Warner   +2 more
wiley   +1 more source

Experience with patients presenting with the clinical features of Holt-Oram syndrome: a single center retrospective study. [PDF]

J Cardiothorac Surg
Liu X, Yang L, Cui J, Liao M, Hou Z, Zhao M, Wang L.   +6 more
europepmc   +1 more source

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, Volume 200, Issue 5, Page 1098-1104, May 2026.
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

Percutaneous Interventions for Heart Failure in Congenital Heart Disease. [PDF]

Curr Cardiol Rep
Schrutka L, Haddad RN, Piccinelli E, David T, Sürücü M, Qureshi SA.   +5 more
europepmc   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1021-1035, May 2026.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Case report: acquired Gerbode defect and ventricular septal defect in a patient with native valve infective endocarditis. [PDF]

Eur Heart J Case Rep
Gomes M, Jones J, Teoh J, Currigan D, Jenkins G.   +4 more
europepmc   +1 more source

[Heart septal defects, ventricular].

Acta chirurgica Iugoslavica, 1977
I, Papo, J, Sokolić, N, Martinović, M, Albreht, J, Jablanov, T, Marenović, B, Jovanović, S, Sefer   +7 more
openaire   +1 more source

Expanding the Phenotype of TAB2‐Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1427-1430, June 2026.
Alberto De Rosa, Silvia Kalantari, Marta Carboni, Antonella Casella, Elisa Giorgio, Antonia Apicella, Alessia Claudia Codazzi, Fabio Sirchia   +7 more
wiley   +1 more source

Maternal Fish Intake in the Year Prior to Conception and Birth Defects, National Birth Defects Prevention Study, 1997–2011

Birth Defects Research, Volume 118, Issue 5, May 2026.
ABSTRACT Background Epidemiologic data on the association between maternal fish intake and birth defects are sparse. Our objective was to assess associations between maternal fish intake and 52 different birth defects, most of which have not been assessed previously.
Dorothy Kim Waller, Zeyu Miao, Renata H. Benjamin, Richard Finnell, Nithya Lakshmi Mohan Dass, Eirini Nestoridi, Marcia C. de Oliveira Otto, Julie Peterson, Tunu Ramadhani, Mark A. Canfield, the National Birth Defects Prevention Study   +10 more
wiley   +1 more source