Search results for " Variant"
showing 10 items of 231 documents
Cilvēka anatomiju apzīmējošā leksika Homēra eposā Īliada
2015
Bakalaura darba Cilvēka anatomiju apzīmējošā leksika Homēra eposā „Īliada” mērķis ir eposa ietvaros izpētīt cilvēka anatomiju apzīmējošo vārdu krājumu un izvērtēt tā nozīmi kontekstu dažādībā. Tiek izvirzīti uzdevumi apzināt pieejamo zinātnisko literatūru, analizēt Homēra eposa oriģināltekstu un tulkojumus, pievēršot uzmanību darba mērķim atbilstošajai leksikai. Pētot cilvēka anatomiju apzīmējošo leksēmu nozīmi un veidojot to klasifikāciju, tiek izmantotas aprakstošā, statistiskā, kontekstuālā un salīdzināšanas metodes. Secināts, ka Homēra Īliada ir leksiski daudznozīmīgs cilvēka anatomijas izziņas avots. Formulēts atzinums, ka iespējams izdalīt loģiskas leksikas apakšsistēmas ar vienojošu …
Polygenic association between attention-deficit/hyperactivity disorder liability and cognitive impairments.
2022
AbstractBackgroundA recent genome-wide association study (GWAS) identified 12 independent loci significantly associated with attention-deficit/hyperactivity disorder (ADHD). Polygenic risk scores (PRS), derived from the GWAS, can be used to assess genetic overlap between ADHD and other traits. Using ADHD samples from several international sites, we derived PRS for ADHD from the recent GWAS to test whether genetic variants that contribute to ADHD also influence two cognitive functions that show strong association with ADHD: attention regulation and response inhibition, captured by reaction time variability (RTV) and commission errors (CE).MethodsThe discovery GWAS included 19 099 ADHD cases …
Functional Assessment of Variants in the TSC1 and TSC2 Genes Identified in Individuals with Tuberous Sclerosis Complex
2011
The effects of missense changes and small in-frame deletions and insertions on protein function are not easy to predict, and the identification of such variants in individuals at risk of a genetic disease can complicate genetic counselling. One option is to perform functional tests to assess whether the variants affect protein function. We have used this strategy to characterize variants identified in the TSC1 and TSC2 genes in individuals with, or suspected of having, Tuberous Sclerosis Complex (TSC). Here we present an overview of our functional studies on 45 TSC1 and 107 TSC2 variants. Using a standardized protocol we classified 16 TSC1 variants and 70 TSC2 variants as pathogenic. In add…
Expression of IAPs (Inhibitory of Apoptosis Proteins) and of their alternative splice variants in hepatocellular carcinoma tissues and cells
2004
IAPs (inhibitors of apoptosis proteins) might have a major role in the apoptotic resistance that marks many cancers. The studies on IAPs in human HCC have focused on survivin or XIAP, indicating that their new or increased expression in this tumor is associated with a more unfavorable prognosis. The present results corroborate these findings, emphasizing the role that the coordinated expression of different IAPs and alternative splice variants might play in the adverse biology of hepatocellular carcinoma.
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.
2022
Interstitial deletions of the long arm of chromosome 12 are rare, with a dozen patients carrying a deletion in 12q21 being reported. Recently a critical region (CR) has been delimited and could be responsible for the more commonly described clinical features, such as developmental delay/intellectual disability, congenital genitourinary and brain malformations. Other, less frequent, clinical signs do not seem to be correlated to the proposed CR. We present seven new patients harboring non-recurrent deletions ranging from 1 to 18.5 Mb differentially scattered across 12q21. Alongside more common clinical signs, some patients have rarer features such as heart defects, hearing loss, hypotonia an…
Prothrombotic gene variants in AMI young women
2012
Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consorti…
2016
Myopia, currently at epidemic levels in East Asia, is a leading cause of untreatable visual impairment. Genome-wide association studies (GWAS) in adults have identified 39 loci associated with refractive error and myopia. Here, the age-of-onset of association between genetic variants at these 39 loci and refractive error was investigated in 5200 children assessed longitudinally across ages 7–15 years, along with gene-environment interactions involving the major environmental risk-factors, nearwork and time outdoors. Specific variants could be categorized as showing evidence of: (a) early-onset effects remaining stable through childhood, (b) early-onset effects that progressed further with i…
Rat PIPPin is probably part of a large complex of RNA-binding proteins
2012
Throughout rat brain development, expression of histones variants is mainly regulated at the post-transcriptional level. We previously cloned two cDNAs encoding, respectively, PIPPin (or CSD-C2), a brain-enriched protein able to bind the 3’end of H1° and H3.3 mRNAs, and LPI (longer isoform of PEP-19). Both PEP-19 and LPI are brain-specific. By western blot, we found that PIPPin expression in PC12 cells is enhanced by NGF-induced differentiation. We investigated the RNA-binding properties of the three proteins using their 6 histidine-tagged recombinant fusions and found that they all bind H1° and H3.3 RNAs. Since PEP-19 and LPI are camstatins, we also analyzed whether calmodulin could interf…