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Hace 3 días · To validate novel candidate mutations identified in our study, we recruited an additional 754 participants without MFS. This group included individuals with other ocular conditions such as retinitis pigmentosa (RP), macular degeneration (MD), familial exudative vitreoretinopathy (FEVR), Leber's hereditary optic neuropathy (LHON), and Best disease, along with their normal family members.
Hace 12 horas · IUBMB Life is the flagship journal of the International Union of Biochemistry and Molecular Biology and is devoted to the rapid publication of the most novel and significant short articles, reviews and papers in the broadly defined fields of biochemistry, molecular biology, cell biology, and molecular medicine.
Hace 2 días · There is increasing evidence that repeat expansions associated with hereditary ataxias may play a role in the development of other neurodegenerative diseases. 1, 2 Spinocerebellar ataxia type 8 (SCA8) is an hereditary ataxia caused by an heterozygous CTG·CAG repeat expansion in the two overlapping genes ATXN8OS/ATXN8. 3 However, there is controversy surrounding its pathogenicity.
Hace 2 días · 1 INTRODUCTION. While nerves have long been recognized as early and necessary participants in tissue regeneration and wound healing, their contributions to tumor development and cancer progression have only recently been appreciated and specifically studied. 1, 2 Various reports implicate secreted neurotrophic growth factors and cytokines as signals promoting tumor innervation.
Hace 2 días · A human genetics journal publishing original research, reviews and opinions on the latest developments. Articles cover the molecular basis of human disease.
Hace 3 días · This retrospective, single-center observational study included pregnant women with inherited AT deficiency in Peking Union Medical College Hospital between 2013 and 2024. Results. Seventeen pregnancies in 6 women with AT deficiency were identified. A total of 7 pregnancies received adjusted-dose low-molecular-weight heparin (LMWH) and were ...
Hace 5 días · The environmental deterioration due to fossil fuel burning is the significant issue in logistic industry. This issue motivates the transportation industry to improve distribution activities. The vehicle routing problem (VRP) is concerned with developing eco-distribution activities in the logistics industry. Therefore, this study considers the VRP with simultaneous delivery and pickup with time ...
