Search results for "MOZ"

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity

2010

Vertebral and metaphyseal dysplasia, spasticity with cerebral calcifications, and strong predisposition to autoimmune diseases are the hallmarks of the genetic disorder spondyloenchondrodysplasia. We mapped a locus in five consanguineous families to chromosome 19p13 and identified mutations in ACP5, which encodes tartrate-resistant phosphatase (TRAP), in 14 affected individuals and showed that these mutations abolish enzyme function in the serum and cells of affected individuals. Phosphorylated osteopontin, a protein involved in bone reabsorption and in immune regulation, accumulates in serum, urine and cells cultured from TRAP-deficient individuals. Case-derived dendritic cells exhibit an …

Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm,…

2013

Summary Background Patients with homozygous familial hypercholesterolaemia respond inadequately to existing drugs. We aimed to assess the efficacy and safety of the microsomal triglyceride transfer protein inhibitor lomitapide in adults with this disease. Methods We did a single-arm, open-label, phase 3 study of lomitapide for treatment of patients with homozygous familial hypercholesterolemia. Current lipid lowering therapy was maintained from 6 weeks before baseline through to at least week 26. Lomitapide dose was escalated on the basis of safety and tolerability from 5 mg to a maximum of 60 mg a day. The primary endpoint was mean percent change in levels of LDL cholesterol from baseline …

The effect of dopamine on the overflow of endogenous noradrenaline from the perfused rabbit heart evoked by sympathetic nerve stimulation.

1978

1. The effects of dopamine and two dopamine receptor antagonists (pimozide, flupenthixol) on the release of endogenous noradrenaline evoked by electrical stimulation of the postganglionic sympathetic nerves and their influence on cardiac performance were measured in isolated perfused rabbit hearts. 2. Dopamine 0.2μM decreased noradrenaline overflow and ventricular tension development in response to nerve stimulation. 3. Dopamine 2μM increased spontaneous noradrenaline output and tension development. The noradrenaline overflow in response to nerve stimulation was greatly enhanced. This action was only partly reversed by wash out of exogenous dopamine, indicating de novo synthesis and facilit…

Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: Phenotypic variability and founder …

2004

WOS: 000223072400081 PubMed ID: 15292359 Isolated TSH deficiency is a rare cause of congenital hypothyroidism. We here report four children from two consanguineous Turkish families with isolated TSH deficiency. Affected children who were screened at newborn age had an unremarkable TSH result and a low serum TSH level at diagnosis. Age at diagnosis and clinical phenotype were variable. All affected children carried an identical homozygous splice site mutation (IVS2 + 5 Gdouble right arrowA) in the TSHbeta gene. This mutation leads to skipping of exon 2 and a loss of the translational start codon without ability to produce a TSH-like protein. However, using specific monoclonal antibodies, we …

"D'un volgo disperso che nome non ha". Tacito, le masse, le emozioni. Rileggendo il primo libro delle Historiae

2011

Diamond Magnetic Microscopy of Malarial Hemozoin Nanocrystals.

2019

Magnetic microscopy of malarial hemozoin nanocrystals was performed using optically detected magnetic resonance imaging of near-surface diamond nitrogen-vacancy centers. Hemozoin crystals were extracted from $Plasmodium$-$falciparum$-infected human blood cells and studied alongside synthetic hemozoin crystals. The stray magnetic fields produced by individual crystals were imaged at room temperature as a function of applied field up to 350 mT. More than 100 nanocrystals were analyzed, revealing the distribution of their magnetic properties. Most crystals ($96\%$) exhibit a linear dependence of stray field magnitude on applied field, confirming hemozoin's paramagnetic nature. A volume magneti…

Il diritto penale tra neutralità istituzionale e umanizzazione comunitaria

2012

1. Premesse. – 2. Paradigma vittimologico e paradigma comunitario nella restorative justice. – 2.1. (segue): l’indisponibilità della vittima come criterio-guida. – 2.2. (segue): la direttiva 2012/29/UE del 25 ottobre 2012, tra aperture riparative e cautele vittimologiche (o paternalistiche?). - 3. La RJ e la svolta emozionale del diritto penale. – 4. La valutazione empirica della giustizia riparativa. – 5. Conclusioni.

Influence of virtual room acoustics on choir singing.

2015

(ProQuest: ... denotes formulae omitted)The aesthetic appreciation of a choir performance heavily relies on both the singers' skills and the acoustical characteristics of the venue. Choir directors usually know that choral performances are greatly influenced by room acoustics, while the choir singers experience the difference between singing in a small room for practice and performing in a comparatively large space like a concert hall. Clearly, it would be beneficial for musicians to understand both the effect of room acoustical features on their performance and how best to adjust tempo, phrasing, dynamics, and other musical parameters with respect to a given venue's acoustical environment.…

Early embryo achievement through isolated microspore culture in citrus clementina hort. Ex tan., cvs. 'Monreal Rosso' and 'nules'

2015

10 p.-5 fig.-3 tab.

Xrcc2 deficiency sensitizes cells to apoptosis by MNNG and the alkylating anticancer drugs temozolomide, fotemustine and mafosfamide

2006

DNA double-strand breaks (DSBs) are potent killing lesions, and inefficient repair of DSBs does not only lead to cell death but also to genomic instability and tumorigenesis. DSBs are repaired by non-homologous end-joining and homologous recombination (HR). A key player in HR is Xrcc2, a Rad51-like protein. Cells deficient in Xrcc2 are hypersensitive to X-rays and mitomycin C and display increased chromosomal aberration frequencies. In order to elucidate the role of Xrcc2 in resistance to anticancer drugs, we compared Xrcc2 knockout (Xrcc2-/-) mouse embryonic fibroblasts with the corresponding isogenic wild-type and Xrcc2 complemented knockout cells. We show that Xrcc2-/- cells are hypersen…