Recently, two missense mutations (N88S, S90L) in the Berardinelli-Seip congenital lipodystrophy gene have been identified in autosomal dominant distal hereditary motor neuropathy and Silver syndrome. We report the phenotypic consequences of the N88S mutation in 90 patients of 1 large Austrian family and two unrelated German families. Variation in the clinical and electrophysiological phenotype ...

objective(s): it has been reported that the mutation of the pre-core (pc) and basal-core promoter (bcp) may play an important role in the development of hbv-related hepatocellular carcinoma (hcc). in this study the pc and bcp mutations were investigated in chronic hbv patients. materials and methods:in this study, 120 chronic hbv patients from golestan, northeast of iran who were not vaccinated...

BACKGROUND Multiple congenital ocular anomalies (MCOA) syndrome is a hereditary congenital eye defect that was first described in Silver colored Rocky Mountain horses. The mutation causing this disease is located within a defined chromosomal interval, which also contains the gene and mutation that is associated with the Silver coat color (PMEL17, exon 11). Horses that are homozygous for the dis...

We present the blueprint for a novel negative-index metamaterial. This structure is fabricated via three-dimensional two-photon direct laser writing and silver shadow evaporation. The comparison of measured linear optical spectra with theory shows good agreement and reveals a negative real part of the refractive index at around 3.85 microm wavelength -- despite the fact that the metamaterial st...

There is much demand for the development of reliable methods of bulge site recognition in DNA in order to find disease-related mutations and identify bulge sequence environments. Herein, we found that the bulge site in the DNA duplex can be used to selectively grow fluorescent silver nanoclusters (Ag NCs). The as-prepared Ag NCs exhibit an emission behavior dependent on the base environment nea...

Hybrids of vinblastine and phomopsin, designed by a molecular modelling study, were elaborated in order to target tubulin. The key step of the synthesis (fragmentation and insertion of vindoline) was mediated by an internal N-carboxyanhydride (or O-acylcarbamate). This reaction was diastereospecific and addition of silver salts could reverse the diastereoselectivity. Even if the synthesized com...

silver is composed of a large percentage of silver oxide due to their large ratio of surface to bulk silver atoms. silver nanoparticles have been a potent antibacterial, antifungal, anti-viral and anti-inflammatory agent. a simple, eco-friendly, inexpensive biosynthetic method was employed to synthesize silver nanoparticles.  the present study aimed at the comparative study of silver nanopartic...

tumor growth is characterized by uncontrolled cell division. for centuries, silver kushta powder, composed of nano and submicro silver particles, has been used in traditional iranian and pakistani medicine for the treatment of melanoma and breast cancer. we have found that these nanocomposite particles are similar to silver nanoparticles (agnps) in size and shape and that there are so differenc...