Background: Different alleles of Fragile X Mental Retardation1 (FMR1) gene with separate molecular etiologies cause Fragile X Syndrome (FXS) and Fragile X-associated Tremor and Ataxia Syndrome (FXTAS). Premutation alleles with 55 to 200 repeats in the FMR1 gene lead to FXTAS. It is carried by 1 in 209 women and 1 in 430 men. FXTAS commonly appears in 50- to 70-year-old adults. Case Presentatio...

Purpose: To evaluate the ultrastructural features of the urinary stones removed with endoscopic stone surgery, using micro computed tomography (micro-CT). Materials and Methods: Patients who had endoscopic surgery for renal or ureteral stones removal were included in this study. After surgery, the stones were classified into three groups and investigated with Skyscan 1174 micro-CT. Group I unde...

"Fragile" glassy materials, which include most polymeric materials and organic liquids, exhibit a steep and super-Arrhenius dependence of relaxation time with temperature upon the glass transition and have been extensively studied. Yet, a full understanding of strong glass formers that exhibit an Arrhenius dependence on temperature is still lacking. In this work, we have investigated the glassy...

INTRODUCTION Fragile X syndrome, the most common cause of inherited mental retardation, results from unstable expansion of a trinucleotide (CGG)n repeat in the FMR1 gene. Phenotypic expression is variable making clinical diagnosis difficult, while diagnosis by Southern blotting is relatively expensive and labour intensive. The prevalence in Singapore has not been studied. MATERIALS AND METHOD...

In recent papers, we have argued that kinetically constrained coarse-grained models can be applied to understand dynamic properties of glass-forming materials, and we have used this approach in various applications that appear to validate this view. In one such paper [J. P. Garrahan and D. Chandler, Proc. Natl. Acad. Sci. U.S.A. 100, 9710 (2003)], among other things we argued that this approach...

Nucleosomes have structural and regulatory functions in all eukaryotic DNA-templated processes. The position of nucleosomes on DNA and the stability of the underlying histone-DNA interactions affect the access of regulatory proteins to DNA. Both stability and position are regulated through DNA sequence, histone post-translational modifications, histone variants, chromatin remodelers, and transc...

In the rare hereditary bone disorder of osteopetrosis, reduced bone resorption function leads to both the development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration, typically associated with extramedullary hemopoiesis and hepatosplenomegaly, results in anemia and thrombocytopenia and nerve entrapment accounts for p...

This manuscript describes the use of water-soluble polymers for use as sacrificial layers in surface micromachining. Water-soluble polymers have two attractive characteristics for this application: 1) They can be deposited conveniently by spin-coating, and the solvent removed at a low temperature (95-150 degrees C), and 2) the resulting layer can be dissolved in water; no corrosive reagents or ...