Results 191 to 200 of about 78,121 (298)

Case Report: Concurrent atrial and ventricular septal defect in a young Sphynx cat. [PDF]

Front Vet Sci
Lee J, Oh B, Oh SI, Kim B, Park H, Lee K, Yoon H.   +6 more
europepmc   +1 more source

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

Late Presentation and Surgical Repair of Traumatic Ventricular Septal Defect Caused by an Old Gunshot Wound. [PDF]

JACC Case Rep
Hassanein H, Awad S, Semeyn M, Massad M, Abdelhady K.   +4 more
europepmc   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 993-1003, May 2026.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Pregnancy with Doubly Committed Subarterial Ventricular Septal Defect: Management Challenges and Delayed Maternal Risk Stratification. [PDF]

Int Med Case Rep J
Roseli A, Setiawan D, Cool CJ.
europepmc   +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

A Delayed Approach to Ventricular Septal Defect Repair After Myocardial Infarction. [PDF]

JACC Case Rep
Al Kindi S, Al-Jabri A, Maddali MM, Al Abri Q.   +3 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

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

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