Search results for "HPR"

Ietvaru salīdzināšana tīmekļa lietotnes ģenerēšanai no datu modeļa

2018

Tīmekļa vietņu apjoms visā pasaulē arvien palielinās, tāpēc ir nepieciešams pēc dažādu sarežģītību veidu tīmekļa vietnēm. Lai ātri un ērti izveidotu tīmekļa vietni, ar vai bez noteiktām biznesa prasībām, nepieciešams ņemt vērā dažādi faktori kā tiks veidota tīmekļa vietne. Darba mērķis ir salīdzināt programmu ietvarus tīmekļa vietņu ģenerēšanai, balstoties uz iepriekš izveidotas datu bāzes. Tiks izpētīts ietvaru rīku funkcionālās iespējas un pielāgošana noteiktām vajadzībām. Svarīgs vērtēšanas kritērijs ir ietvaru piedāvātie palīgrīki izstrādes gaitas paātrināšanai. Pēc šiem kritērijiem izvēlētie ietvari tiks salīdzināti un iegūti secinājumi.

Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia

2020

Abstract Non-classical congenital adrenal hyperplasia (NC-CAH) includes a group of genetic disorders due to a broad class of CYP21A2 variants identifying a disease-causing ‘C’ genotype. The heterozygous carriers of CYP21 mutations are at increased risk of developing clinically evident hyperandrogenism, even though clinical and laboratory characteristics are still underestimated. With the aim of obtaining a more accurate delineation of the phenotype of heterozygous carrier of CAH, we analyzed clinical, biochemical and molecular characteristics in a cohort of Sicilian subjects. Fifty-seven females with biallelic and monoallelic CYP21A2 variants classifying NC-CAH (24) and heterozygous carrier…

Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilization.

2020

ABSTRACTShprintzen-Goldberg syndrome (SGS) is a multisystemic connective tissue disorder, with considerable clinical overlap with Marfan and Loeys-Dietz syndromes. These syndromes have commonly been associated with enhanced TGF-β signaling. In SGS patients, heterozygous point mutations have been mapped to the transcriptional corepressor SKI, which is a negative regulator of TGF-β signaling that is rapidly degraded upon ligand stimulation. The molecular consequences of these mutations, however, are not understood. Here we use a combination of structural biology, genome editing and biochemistry to show that SGS mutations in SKI abolish its binding to phosphorylated SMAD2 and SMAD3. This resul…

Prevalence of older in-patients at risk of clopidogrel resistance according to the STIB score. Results from REPOSI registry

2017

The phenomenon of resistance to copidogrel catches the attention of a growing number of clinicians because of its frequency and the severity of adverse events related to it. The identification of patients with high platelet reactivity (HPR may help to improve their therapy applying the concept of personalized medicine, most important in the older people treated with polypharmacy. The existece of such a simple clinical method as the STIB score, that allows to predict the possible resistace to clopidogrel at the bedside without using expensive laboratory investigations, provides an attractive approach to the problem.

Changes in the contractility of colon from hypoxanthine-guanine phosphoribosyltransferase (HPRT) knockout mice (Lesch-Nyhan disease)

2009

Molecular and patho-physiological basis of syndromes with developmental anomalies and intellectual disability

2013

Intellectual disability (ID) corresponds to abnormal intellectual performances and adaptive functions, beginning in childhood. It is estimated that 2-3% of individuals develop a ID, which represents a significant medical challenge since people with ID are frequently in situations of social dependence. Overall, a critical involvement of genetic factors in this disease is suspected. To date, several hundreds of genes are known to be responsible for ID. The ID is particularly characterized by extreme clinical and genetic heterogeneity, that made it resistant to conventional genetic studies. However, it is classicaly separated between syndromic ID, which may be clinically recognizable due to as…

The overstated generational gap in online news use? A consolidated infrastructural perspective

2021

Recent research by Taneja et al. suggested that digital infrastructures diminish the generational gap in news use by counteracting preference structures. We expand on this seminal work by arguing that an infrastructural perspective requires overcoming limitations of highly aggregated web tracking data used in prior research. We analyze the individual browsing histories of two representative samples of German Internet users collected in 2012 ( N = 2970) and 2018 ( N = 2045) and find robust evidence for a smaller generational gap in online news use than commonly assumed. While short news website visits mostly demonstrated infrastructural factors, longer news use episodes were shaped more by …

The Friedreich's Ataxia protein frataxin modulates DNA base excision repair in prokaryotes and mammals

2010

DNA-repair mechanisms enable cells to maintain their genetic information by protecting it from mutations that may cause malignant growth. Recent evidence suggests that specific DNA-repair enzymes contain ISCs (iron–sulfur clusters). The nuclearencoded protein frataxin is essential for the mitochondrial biosynthesis of ISCs. Frataxin deficiency causes a neurodegenerative disorder named Friedreich's ataxia in humans. Various types of cancer occurring at young age are associated with this disease, and hence with frataxin deficiency. Mice carrying a hepatocyte-specific disruption of the frataxin gene develop multiple liver tumours for unresolved reasons. In the present study, we show that frata…

In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

2012

International audience; Shprintzen-Goldberg syndrome (SGS) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical facial dysmorphism, and craniosynostosis. Using family-based exome sequencing, we identified a dominantly inherited heterozygous in-frame deletion in exon 1 of SKI. Direct sequencing of SKI further identified one overlapping heterozygous in-frame deletion and ten heterozygous missense mutations affecting recurrent residues in 18 of the 19 individuals screened for SGS; these individuals included one family affected by somatic mosaicism. All mutations were located in a restricted area of exon 1, within the R-SMAD binding domain of SKI. No mut…

Structural and Vibrational Properties of Corundum-type In2O3 Nanocrystals under Compression

2017

[EN] This work reports the structural and vibrational properties of nanocrystals of corundum-type In2O3 (rh-In2O3) at high pressures by using angle-dispersive x-ray diffraction and Raman scattering measurements up to 30 GPa. The equation of state and the pressure dependence of the Raman-active modes of the corundum phase in nanocrystals are in good agreement with previous studies on bulk material and theoretical simulations on bulk rh-In2O3. Nanocrystalline rh-In2O3 showed stability under compression at least up to 20 GPa, unlike bulk rh-In2O3 which gradually transforms to the orthorhombic Pbca (Rh2O3-III-type) structure above 12 14 GPa. The different stability range found in nanocrystallin…