نتایج جستجو برای: predominant mutations
تعداد نتایج: 215817 فیلتر نتایج به سال:
Background and Objective: B-thalassemia is an autosomal recessive disease characterized by reduction or complete absence of b-globin gene expression. It has been estimated that more than 2,000,000 carriers as well as 20,000 patients affected with b-thalassemia are living in Iran, a country with more than 70 million population and great ethnic diversity. In this study we aimed to find out the b-...
Mutation in the CHMP2B gene has been implicated in frontotemporal dementia. The authors screened CHMP2B in patients with ALS and several cohorts of control samples. They identified mutations (Q206H; I29V) in two patients with non-SOD1 ALS. Neuropathology of the Q206H case showed lower motor neuron predominant disease with ubiquitylated inclusions in motor neurons. Antibodies to p62 (sequestosom...
We report the generation of a 6 pC, 23 MeV electron bunch with the energy spread ± 3.5% by using 2 TW, 80 fs high contrast laser pulses interacting with helium gas targets. Within the optimized experimental condition, we obtained quasi-monoenergetic electron beam with an ultra-small normalized divergence angle of 92 mrad, which is at least 5 times smaller than the previous LPA-produced bunches....
Epidermal nevi (EN) are hamartomatous lesions derived from epidermal components originating from pluripotent cell mutations. They have been categorized according to their predominant component. The existence of >2 types of EN concurrently within a single area or within contiguous areas has been rarely reported. This report describes the case of simultaneous presence of a yellowish plaque on the...
CRISPR/Cas9 and TALEN are currently the two systems of choice for genome editing. We have studied the efficiency of the TALEN system in rice as well as the nature and inheritability of TALEN-induced mutations and found important features of this technology. The N287C230 TALEN backbone resulted in low mutation rates (0-6.6%), but truncations in its C-terminal domain dramatically increased effici...
AIMS To define the occurrence of KRAS and BRAF mutations, microsatellite instability (MSI), and MGMT and hMLH1 methylation and expression in colorectal serrated adenocarcinoma. METHODS AND RESULTS KRAS codon 12/13 and 59/61 and BRAF V600E mutations, MSI, and MGMT and hMLH1 methylation and expression in 42 serrated adenocarcinomas and 17 serrated adenomas were compared with those in 59 non-ser...
Juvenile neuronal ceroid lipofuscinosis (JNCL), Batten disease, is an autosomal recessive lysosomal storage disease associated with mutations in CLN3. CLN3 has no known homology to other proteins and a function has not yet been described. The predominant mutation in CLN3 is a 1.02 kb genomic deletion that accounts for nearly 85% of the disease alleles. In this mutation, truncation of the protei...
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