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MYH6 encodes the alpha heavy chain subunit of cardiac myosin. Mutations in MYH6 cause cardiomyopathy and congenital heart defects. However, due to embryonic lethality in MYH6 knockout mice, the precise roles of MYH6 in cardiomyopathy, congenital heart defects and development process remain largely unknown. In this study, we generated a human MYH6 compound heterozygous knockout hESC line using CRISPR/Cas9 technology. The establishment cell line WAe009-A-46 carried a compound heterozygous 2 bp deletion/7 bp deletion in MYH6, expressed pluripotency markers, showed a normal karyotype and exhibited capability to differentiate into the three germ layers in vitro. MYH6 protein was not detectable in WAe009-A-46 line. This cell line provides a useful tool for studying the role of MYH6 in cardiomyopathy and congenital heart defects.
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http://dx.doi.org/10.1016/j.scr.2020.102128 | DOI Listing |
Brain Dev
September 2025
Department of Pediatrics, Kochi Medical School, Kochi University, Kohasu, Okoh-cho, Nankoku, Kochi 783-8505, Japan.
Fukuyama congenital muscular dystrophy (FCMD, a severe form of muscular dystrophy characterized by brain structural anomalies and ocular complications due to neuronal migration disorders, is notably limited mainly to Japan. Ninety percent of patients are unable to walk throughout their lives and die before the age of 20 due to respiratory failure and cardiomyopathy. At present, there is no cure.
View Article and Find Full Text PDFAm J Cardiol
September 2025
Seymour, Paul, and Gloria Milstein Division of Cardiology, Department of Medicine, Columbia University Irving Medical Center/New York Presbyterian Hospital, New York, NY.
Women with cardiac disease have worse neonatal outcomes compared to women without cardiac disease; risk factors are not well-defined. We hypothesized that structural heart disease, as assessed by echocardiography, is a non-invasive metric for abnormal hemodynamics and an unfavorable maternal-fetal environment. We assessed the association between echocardiographic markers of structural heart disease in women with cardiac disease and a primary endpoint of adverse neonatal outcomes operationalized as neonates with small-for-gestational-age birth weight, preterm delivery, neonatal intensive care unit/transition care unit admission, or neonatal/fatal demise.
View Article and Find Full Text PDFCureus
August 2025
Mother and Child Health Laboratory, Faculty of Medicine and Pharmacy, Mohammed First University, Oujda, MAR.
Congenital hyperinsulinism (CHI) is a rare but significant cause of persistent neonatal hypoglycemia (NH), associated with a high risk of neurological complications if not promptly treated. This condition is characterized by inappropriate insulin secretion, often of genetic origin, independent of blood glucose levels. We report the case of a male macrosomic newborn admitted on the second day of life for respiratory distress, generalized seizures, and severe hypoglycemia (1.
View Article and Find Full Text PDFPort J Card Thorac Vasc Surg
August 2025
Department of Cardiovascular & Thoracic Surgery, U. N. Mehta Institute of Cardiology and Research Center, Civil Hospital Campus, Asarwa, Ahmedabad, Gujarat, India.
Left ventricular non-compaction (LVNC) cardiomyopathy is a rare congenital cardiomyopathy which is characterized by prominent and extensive trabeculation and deep intertrabecular recesses communicating with left ventricular cavity. Here we present a rare case report of patient with severe secondary Mitral regurgitation (MR) and severe tricuspid regurgitation (TR) in LVNC cardiomyopathy who underwent MV Repair using ring annuloplasty with #28 CG future ring and kay's suture annuloplasty for severe TR and its postoperative management. Patient recovered well after surgery and was discharged with improved hemodynamics.
View Article and Find Full Text PDFInt J Mol Sci
August 2025
Department of Molecular Biology, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, 80-308 Gdansk, Poland.
Myopathies and muscular dystrophies are a diverse group of rare or ultra-rare diseases that significantly impact patients' quality of life and pose major challenges for diagnosis and treatment. Despite their heterogeneity, many share common molecular mechanisms, particularly involving sarcomeric dysfunction, impaired autophagy, and disrupted gene expression. This review explores the genetic and pathophysiological foundations of major myopathy subtypes, including cardiomyopathies, metabolic and mitochondrial myopathies, congenital and distal myopathies, myofibrillar myopathies, inflammatory myopathies, and muscular dystrophies.
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