Conclusion In the present study, we used Sc-RNase H2* and Tk-RNase HII as model proteins to analyze the effect of a disease-causing mutation on the activity, stability, and structure of human RNase H2 and the role of the glycine residue fully conserved in prokaryotic RNases[r]
implies an upstream event that initiates both Aβ- and tau-related pathologies. Aβ is a cleaved product of APP via the sequential action of two protease complexes, the β and γ secretases. (Selkoe, 2001 ). β secretase cleaves APP at the N-terminus producing the membrane-bound moiety C99 and the secr[r]
Familial defective apolipoprotein B-100 (FDB) is an autosomal codominant disorder associated with hypercholesterolemia, caused by mutations in and around codon 3500 of the Apolipoprotein (Apo) B gene, which encodes Apo B-100. The first mutation occurred in Arginine codons to be described, and the mo[r]
Treatment options for patients with metastatic colorectal cancer (mCRC) include anti-epithelial growth factor therapies, which, in Europe, are indicated in patients with RAS wild-type tumours only and require prior mutation testing of “hot-spot” codons in exons 2, 3 and 4 of KRAS and NRAS. The aim o[r]
Results: A collection of Cucumis spp. was characterised for susceptibility to MNSV and Cucumber vein yellowing virus (CVYV) and used for the implementation of EcoTILLING to identify new allelic variants of eIF4E . A high conservation of eIF4E exonic regions was found, with six polymorphic si[r]
Genetic disorders have been shown to co-occur in individual patient. A Thai boy with features of osteogenesis imperfecta (OI) and combined pituitary hormone deficiency (CPHD) was identified. The causative mutations were investigated by whole exome and Sanger sequencing. Pathogenicity and pathomechan[r]
Somatic PTEN mutation occurs in a proportion of ovarian endometrioid carcinomas. However, these cancers have seldom been reported in diseases associated with germline PTEN variants, such as Cowden syndrome (CS).
Case presentation: A 66-year-old Caucasian man presented with a ten-month history of episodic severe cramping abdominal pain, associated with loose stools. A colonoscopy performed during an acute attack revealed nonspecific colitis. Computed tomography of the abdomen performed at the same time s[r]
from messenger RNA to produce proteins. A – Transcription occurs in nucleus. A – Transcription occurs in nucleus. B – mRNA moves to the cytoplasm then to the B – mRNA moves to the cytoplasm then to the ribosomes. tRNA “read” the mRNA and obtain
from messenger RNA to produce proteins. A – Transcription occurs in nucleus. A – Transcription occurs in nucleus. B – mRNA moves to the cytoplasm then to the B – mRNA moves to the cytoplasm then to the ribosomes. tRNA “read” the mRNA and obtain
The metabolic inhibitor 3-bromopyruvate (3-BrPA) is a promising anti-cancer alkylating agent, shown to inhibit growth of some colorectal carcinoma with KRAS mutation. Recently, we demonstrated increased resistance to 3-BrPA in wt p53 tumor cells compared to those with p53 silencing or mutation.
Therefore, in the current study, we investigated whether CHEK2 H371Y mutation carriers are more likely to respond to neoadju-vant chemotherapy in terms of pathologic complete re-sponse p[r]
Small-cell lung cancer with epidermal growth factor receptor (EGFR) gene mutation typically manifests as a transformation occurring after EGFR tyrosine kinase inhibitor therapy for adenocarcinoma with EGFR mutation, whereas primary small-cell lung cancer showing EGFR mutation is extremely rare.
Cloning and expression of putative HYDs The genomic DNA of Jannaschia sp. CCS1 and Pseudomo- nas fluorescens PfO-1 were kindly supplied by Mary Moran (University of Georgia, Athens, GA) and Stuart Levy (Tufts University School of Medicine, Boston, MA), respectively. The genomic DNA of Streptomyces[r]
The neural network using strong non-linearity has ups and downs. In the case of high dimensional problem, the strong non-linear network has an upper hand over linear ones (Barron, 1993). The invention of back propagation method may be a landmark event. This very useful method is applied t[r]
doi:10.1111/j.1742-4658.2007.06165.x Retrocyclin RC-101, a h -defensin with lectin-like properties, potently inhib- its infection by many HIV-1 subtypes by binding to the heptad repeat 2 (HR2) region of glycoprotein 41 (gp41) and preventing six-helix bundle for- mation. In the present study[r]
n in the Q n domains? To date the literature is replete with studies characterizing Qn disease, particu- larly Huntington disease (HD). What follows is a brief description of the discovery of each Qn-expansion disease, and some key references, followed by a discus- sion of current theories[r]
In present era problems like population incensement, food insecurity, loss of genetic diversity, challenging environmental etc. are directly or indirectly becoming huge obstacles in achieving the goal of providing every person daily basic food requirement. These conditions have put humankind in dang[r]
KRAS mutation occurs in 35%-40% of colorectal cancer (CRC). The aim of our study was to evaluate the pathological and molecular features of specific KRAS mutated colorectal carcinomas. KRAS and BRAFV600E mutation tests were performed in 762 primary tumors from a consecutive cohort study of Chinese C[r]