نتایج جستجو برای: holt oram syndrome
تعداد نتایج: 623863 فیلتر نتایج به سال:
Proper functioning of the musculoskeletal system requires the precise integration of bones, muscles, and tendons. Complex morphogenetic events ensure that these elements are linked together in the appropriate three-dimensional configuration. It has been difficult, however, to tease apart the mechanisms that regulate tissue morphogenesis. We find that deletion of Tbx5 in forelimbs (or Tbx4 in hi...
A general harvesting model is presented that allows the dynamics of the population to be divided into two distinct phases, viz, the harvesting-season dynamics, modeled by an n-dimensional system of ordinary nonlinear differential equations, and the spawning season, modeled by n difference equations. A maximum principle for this type of system is presented. The concept of “maximum sustainable yi...
In this paper we show a Clauser-Horne (CH) inequality for two three-level quantum systems or qutrits, alternative to the CH inequality given by Kaszlikowski et al. [Phys. Rev. A 65, 032118 (2002)]. In contrast to this latter CH inequality, the new one is shown to be equivalent to the ClauserHorne-Shimony-Holt (CHSH) inequality for two qutrits given by Collins et al. [Phys. Rev. Lett. 88, 040404...
The Holt-Oram syndrome (HOS) is an autosomal dominant condition characterized by upper limb and cardiac malformations. Mutations in the TBX5 gene cause HOS and have also been associated with isolated heart and arm defects. Interactions between the TBX5, GATA4 and NKX2.5 proteins have been reported in humans. We screened the TBX5, GATA4, and NKX2.5 genes for mutations, by direct sequencing, in 3...
To better understand the role of TBX5, a T-box containing transcription factor in forelimb and heart development, we have studied the clinical features of Holt-Oram syndrome caused by 10 different TBX5 mutations. Defects predicted to create null alleles caused substantial abnormalities both in limb and heart. In contrast, missense mutations produced distinct phenotypes: Gly80Arg caused signific...
Epigenetic mechanisms regulate the expression of virulence traits in diverse pathogens, including protozoan and fungi. In the human fungal pathogen Candida albicans, virulence traits such as antifungal resistance, white-opaque switching, and adhesion to lung cells are regulated by histone deacetylases (HDACs). However, the role of HDACs in the regulation of the yeast-hyphal morphogenetic transi...
The bi-centennial of the great Royal Infirmary at Manchester, and the centennial of the distinguished Mount Sinai Hospital of New York are fittingly and most appropriately commemorated in these books. Both give a remarkably vivid picture of the vicissitudes in the growth and development of a hospital of high standard and achievement, and both are well written, well organized, and attractively i...
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