(c) 2012 Wiley Periodicals, Inc. Environ Toxicol 29: 526-533, 2014.”
“Background: Striate palmoplantar keratoderma (SPPK; OMIM #148700) is a Fare autosomal dominant genodermatosis characterized by linear hyperkeratosis
on the digits and hyperkeratosis on the palms and soles. SPPK is known to be caused by heterozygous mutations in either the desmoglein 1 (DSG1), desmoplakin (DSP), or keratin 1 (KRT1) genes.
Objective: To define the molecular basis of SPPK in five Pakistani families showing a clear autosomal dominant inheritance pattern of SPPK.
Methods: Based on previous reports of DSG1 mutations in SPPK, we performed direct sequencing of the DSG1 gene of all five families.
Results: Mutation analysis resulted in the identification of one recurrent mutation (p.R26X) and four novel mutations (c.Ivs4-2A>G, c.515C>T, c.Ivs9-3C>G. and c.1399delA) in the DSG1 gene. learn more Each mutation is predicted to cause haploinsufficiency of DSG1
protein.
Conclusion: The results of our study further underscore the significance of the desmoglein gene family in diseases of epidermal integrity. (C) 2008 Japanese Society for Investigative Dermatology. Published by Elsevier Ireland Ltd. All rights reserved.”
“This article presents a comprehensive study and design methodology of cointegrated oscillators for nanoscale mass sensing applications based on resonant nanoelectromechanical system (NEMS). In particular, a comparison is www.selleckchem.com/products/lb-100.html provided between the capacitive and the piezoresistive transduction schemes in terms of overall sensor performance. The developed model is clearly in accordance with the general experimental observations obtained
for NEMS-based mass detection. The piezoresistive devices are more sensitive (up to 10 zg/root Hz) than capacitive ones (close to 100 zg/root Hz) since they can work at higher frequency. Moreover, the high doped silicon piezoresistive gauge, which is of great interest for very large scale integration, shows similar theoretical resolution to that of the metallic gauge selleck screening library already used experimentally. (C) 2009 American Institute of Physics. [DOI: 10.1063/1.3152795]“
“This study was aimed to investigate the reproductive health in adult male rats exposed to di-n-butyl phthalate (DBP) during embryonic development. Pregnant rats were injected with DBP and F1 male rats were weaned and on postnatal day 100, used for mating with normal cycling females to assess reproductive performance. After completion of cohabitation period, rats were analyzed for other reproductive end points. Transplacental exposure to DBP significantly decreased fertility in adult male rats. Prenatal exposure to DBP significantly decreased sperm density, number of motile sperms, viable sperms, and hypoosmotic swelling tail coiled sperms with an increase in morphological abnormalities in sperms. Testicular steroidogenic enzyme activity levels and serum testosterone levels were significantly decreased in rats exposed to DBP during embryonic development.