Search results for "restriction"
showing 10 items of 527 documents
Analysis of the structural integrity of the TAP2 gene in renal cell carcinoma.
2003
The transporter associated with antigen processing (TAP) gene products is involved in the processing of endogenous peptides that bind to MHC class I molecules. Mutations and/or polymorphism within these genes could alter the efficacy of the immune response which might be relevant for the development of autoimmune diseases and cancer. In this study we examined both the structural integrity and the polymorphism of TAP2 in renal cell carcinoma lesions by sequencing TAP2 in renal cell carcinoma lesions and autologous normal kidney epithelium. TAP2 sequence analysis of 31 renal cell carcinoma lesions, one oncocytoma and respective autologous normal kidney epithelium revealed no mutation in the T…
A Cross-Country Examination on the Fear of COVID-19 and the Sense of Loneliness during the First Wave of COVID-19 Outbreak
2021
The aim of the current study is to examine gender, age. and cross-country differences in fear of COVID-19 and sense of loneliness during the lockdown, by comparing people from those countries with a high rate of infections and deaths (e.g., Spain and Italy) and from countries with a mild spread of infection (e.g., Croatia, Serbia, Slovakia, Slovenia, and Bosnia and Herzegovina). A total of 3876 participants (63% female) completed an online survey on “Everyday life practices in COVID-19 time” in April 2020, including measures of fear of COVID-19 and loneliness. Males and females of all age groups in countries suffering from the powerful impact of the COVID-19 pandemic reported greater fear o…
Transcriptional profiling of rat hypothalamus response to 2,3,7,8-tetrachlorodibenzo-ρ-dioxin
2015
In some mammals, halogenated aromatic hydrocarbon (HAH) exposure causes wasting syndrome, defined as significant weight loss associated with lethal outcomes. The most potent HAH in causing wasting is 2,3,7,8-tetrachlorodibenzo-r-dioxin (TCDD), which exerts its toxic effects through the aryl hydrocarbon receptor (AHR). Since TCDD toxicity is thought to predominantly arise from dysregulation of AHR-transcribed genes, it was hypothesized that wasting syndrome is a result of to TCDD-induced dysregulation of genes involved in regulation of food-intake. As the hypothalamus is the central nervous systems' regulatory center for food-intake and energy balance. Therefore, mRNA abundances in hypothala…
Multiple identification of a particular type of hereditary C1q deficiency in the Turkish population: review of the cases and additional genetic and f…
1997
Complete selective deficiencies of the complement component C1q are rare genetic disorders that are associated with recurrent infections and a high prevalence of lupus erythematosus-like symptoms. All C1q deficiencies studied at the genetic level revealed single-base mutations leading to termination codons, frameshifts or amino acid exchanges and these were thought to be responsible for the defects as no other aberrations were found. One particular mutation, leading to a stop codon in the C1qA gene, was first identified in members of a Gypsy family from the Slovak Republic. The same mutation has been found in all cases of C1q deficiency from Turkey that have been investigated. Here we prese…
Mitochondrial DNA effects on fitness in Drosophila subobscura
2011
We tested different fitness components on a series of conspecific mtDNA haplotypes, detected by RFLPs in Drosophila subobscura. Additionally, haplotype VIII, endemic to the Canary Islands, was tested upon its own native nuclear DNA background and upon that of the rest of mtDNAs tested herein. We found that both nuclear and mitochondrial DNA can have a significant effect upon their hosts' fitness, and that negative selection is one of the mechanisms that can intervene in this species' mtDNA haplotype pattern. We discuss the importance of this mechanism in relation to genetic drift, in the form of periodic population bottlenecks, and how the latter can enhance the former. We also detected a s…
A European family with histidine 58 transthyretin mutation in familial amyloid polyneuropathy
1997
1. IntroductionMore than 50 mutations of the transthyretin (TTR) [1]molecule resulting in different clinical forms of amyloidosisincluding familial amyloid polyneuropathy (FAP) havebeen reported to date. Within this FAP spectrum severaltransthyretin mutations are more frequent, others are rare.One mutation, the codon 58 histidine for leucine has pre-viously been recorded only in American subjects (Mary-land/German type), originally reported in a large kinship[2,3] and in another family from Ohio [4]. In the originaldescription of the Maryland/German type of amyloidosis[2], it was stated that the early immigrants in this pedigreewere from the Rhine river area, "nearly all of them from thelef…
HPV infection and oral carcinogenesis
2010
To the Editor,High risk human papilloma viruses (HPV) have been found in head and neck squamous cell carcinomas (HNSCC), particularly in oropharyngeal carcinomas (1). Nevertheless, there are some controversial aspects regarding this issue (2) such as whether the HPV infec-tion is a temporary or a persistent oral infection in these patients.Recently, Chuang et al. (3) have associated the presence of HPV-16 DNA in surveillance salivary rinses with a significant risk for recurrence in HNSCC.We hypothesized that the improved prognosis of many patients with HPV-related oropharyngeal carcinoma is due to the temporary nature of the infection, and there-fore in the absence of lesions no HPV genomic…
Customized and non-customized live-born birth-weight curves of single and uncomplicated pregnancies from the Burgundy perinatal network. Part I – met…
2017
International audience; Objectives: To establish non-customized and customized birth-weight curves of single and uncomplicated pregnancies according to gestational age.Materials and methods: We used data for 64,173 mother-infants pairs from the Burgundy perinatal network database (France) over the period 2005-2013. A validated procedure was used to link mothers with their newborns, and maternal and fetal pathologies likely to affect birth weight were excluded. Multiple regression analysis with covariate selection was used to build a customized growth curve with maternal and fetal parameters.Results: Using this methodology, three different curves were generated: an unadjusted curve for birth…
Intrauterine growth restriction and congenital malformations: a retrospective epidemiological study
2013
Background: Intrauterine growth restriction (IUGR) and small for gestational age (SGA) birth have been considered possible indicators of the presence of malformations. The aim of this study is to evaluate such relationships in a population of newborns, along with other epidemiological and auxological parameters, in particular the ponderal index (PI). Methods: We analyzed the birth data of 1093 infants, classified according to weight for gestational age as SGA, appropriate for gestational age (AGA) or large for gestational age (LGA). The prevalence of malformations was analyzed in relation to weight percentile at birth and SGA birth, maternal smoking, pregnancy diseases and PI. Results: Our …
Intrauterine growth pattern and birthweight discordance in twin pregnancies: a retrospective study
2013
Background: Twins, compared to singletons, have an increased risk of perinatal mortality and morbidity, due mainly to a higher prevalence of preterm birth and low birthweight. Intrauterine growth restriction (IUGR) is also common and can affect one or both fetuses. In some cases, however, one twin is much smaller than the other (growth discordance). Usually, high birthweight discordance is associated with increased perinatal morbidity. The aim of this study is to describe the epidemiological features of a population of twins at birth, with particular reference to the interpretation and clinical effects of birthweight discordance. Methods: We evaluated retrospectively the clinical features o…