S Datta, W Cao, M Skillman, M Wu - International Journal of Molecular …, 2023 - mdpi.com
Hypoplastic left heart syndrome (HLHS) is a lethal congenital heart disease (CHD) affecting 8–25 per 100,000 neonates globally. Clinical interventions, primarily surgical, have …
Oligodendrocytes (OLs) produce myelin in the central nervous system (CNS), which accelerates the propagation of action potentials and supports axonal integrity. As a major …
Oligodendrocytes (OLs) produce myelin sheaths around axons in the central nervous system (CNS). Myelin accelerates the propagation of action potentials along axons and …
L Doering, A Cornean, T Thumberger… - Disease Models & …, 2023 - journals.biologists.com
High-throughput DNA sequencing studies increasingly associate DNA variants with congenital heart disease (CHD). However, functional modeling is a crucial prerequisite for …
K Slaba, M Jezova, P Pokorna, H Palova… - … Genetics & Genomic …, 2023 - Wiley Online Library
Background Cardiac‐urogenital syndrome [MIM# 618280] is a newly described very rare syndrome associated with pathogenic variants in the myelin regulatory factor (MYRF) gene …
YB Qi, Z Xu, S Shen, Z Wang, Z Wang - BioEssays, 2024 - Wiley Online Library
Abstract The Myelin Regulator Factor (MYRF) is a master regulator governing myelin formation and maintenance in the central nervous system. The conservation of MYRF across …
S Yao, X Mo, C Luo, C Qu - Frontiers in Genetics, 2023 - frontiersin.org
Background: MYRF-related mild encephalopathy with reversible myelin vacuolization (MMERV) is an inherited neurological disorder characterized by dysfunction in the central …
KC Becker, R Hirsch, PJ Critser, KG Miles, M Ricci… - Pediatric …, 2025 - Springer
Abstract Cardiac-Urogenital Syndrome (CUGS) is a recently identified genetic disease characterized by urogenital, diaphragmatic, ophthalmic, and cardiac abnormalities caused …
An emerging feature of demyelinating disorders or events following peripheral nerve injury is the accumulation of misfolded proteins in myelinating glia leading to activation of the …