Search results for "B3"
showing 10 items of 193 documents
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
2005
Contains fulltext : 47591.pdf (Publisher’s version ) (Closed access) Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder. Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341 independent patients with achromatopsia. In 163 patients, CNGB3 mutations could be identified. A total of 105 achromats carried apparent homozygous mutations, 44 were compound (double) heterozygotes, and 14 patients had only a single mutant allele. The derived CNGB3 mutatio…
The role of punishment in the works of Adam Smith
2009
The reformation of criminal justice is one of the great themes in Enlightenment culture and concerned its main exponents from Montesquieu to Beccaria, Filangieri, Bentham. One of the traits of greater modernity in the theories worked out by juridical Enlightenment is the resort to the utilitarianinspired economic analysis. Adam Smith doesn't back out of this scientific and civil commitment, but his doctrine appears significantly different though contemporary to juridical Enlightenment, and is also based on economic argumentations. In this work we will look through the main writings which contain the Smithian thought in search of those parts dealing with the theme of punishment and its socia…
Correlation of nitric oxide and atrial natriuretic peptide changes with altered cGMP homeostasis in liver cirrhosis.
2005
: Background: Cyclic GMP (cGMP) concentration is increased in plasma of patients with liver cirrhosis. Three possible mechanisms may contribute: increased cGMP synthesis by soluble (activated by nitric oxide), or particulate (activated by atrial natriuretic peptide (ANP)) guanylate cyclase or increased release from cells. Aim: The aim of this work was to analyze the possible contributors to increased plasma cGMP and to assess whether changes in the parameters of the system vary with the degree of liver disease (Child Pugh score) or by the presence of ascites. Methods: We measured cGMP in plasma and lymphocytes, soluble guanylate cyclase activation by nitric oxide in lymphocytes, nitrates an…
DFT study of N–H···O hydrogen bond between model dehydropeptides and water molecule
2013
The strength of the hydrogen bond formed between a water molecule and two α,β-dehydroalanine derivatives including Ac-ΔAla-NMe2 (1) and Ac-ΔAla-NHMe (2) in comparison with standard amino acid Ac-Ala-NMe2 (3) is studied by density functional theory (with M06-2X and B3LYP functionals). Calculations were conducted for two different conformations of the peptides: extended (C5) and bent (β) with polyproline II backbone dihedral angles. The obtained results show that both dehydro and standard peptides in bent conformation form stronger hydrogen bonds with water than in the extended ones. Moreover, due to higher polarity of the N–H group of α,β-dehydroalanine residues, the H-bond in their complexe…
Carbon stable isotope composition of charophyte organic matter in a small and shallow Spanish water body as a baseline for future trophic studies
2015
<p>Quantitative descriptions of foodweb structure based on isotope niche space require knowledge of producers’ isotopic signatures. In freshwater ecosystems charophytes are one of the main components of submerged vegetation and the feeding base for many herbivorous consumers, but knowledge about their organic carbon isotopic signatures is sparse. In this study, the δ<sup>13</sup>C organic values (and organic %C and %N) of the four species of submerged macrophytes (three charophytes - <em>Chara hispida</em>, <em>Nitella hyalina</em> and <em>Tolypella glomerata </em>- and one angiosperm, <em>Myriophyllum spicatum</em>) growing …
About Quotient Orders and Ordering Sequences
2017
Summary In preparation for the formalization in Mizar [4] of lotteries as given in [14], this article closes some gaps in the Mizar Mathematical Library (MML) regarding relational structures. The quotient order is introduced by the equivalence relation identifying two elements x, y of a preorder as equivalent if x ⩽ y and y ⩽ x. This concept is known (see e.g. chapter 5 of [19]) and was first introduced into the MML in [13] and that work is incorporated here. Furthermore given a set A, partition D of A and a finite-support function f : A → ℝ, a function Σ f : D → ℝ, Σ f (X)= ∑ x∈X f(x) can be defined as some kind of natural “restriction” from f to D. The first main result of this article ca…
Abstract 2903: IMAB362, a novel first-in-class monoclonal antibody for treatment of pancreatic cancer
2014
Abstract Pancreatic ductal adenocarcinoma (PDAC), the most frequent subtype (&gt;80%) of pancreatic cancer (PC) is characterized by a generally lethal progress within a short period of time after primary diagnosis. Despite high efforts, the treatment options are very limited and mainly of palliative nature. Therefore, we investigated whether IMAB362 might represent a potential treatment option in this patient population. IMAB362 is a highly potent and tumor-cell selective therapeutic antibody which is currently in clinical development in gastro-esophageal cancer (in phase II and IIb trials). IMAB362 is directed against the tight junction molecule CLDN18.2, a proliferation-promoting tran…
1p36 deletion results in a decrease in glycosaminoglycans which is associated with aggressiveness in neuroblastic tumors
2018
Despite our deep understanding of neuroblastic tumors, some patients still suffer treatment failure, so pre-treatment risk stratification still requires improvement and the search for new therapeutic targets must continue. Here we correlated prognostic clinical and biological features of neuroblastic tumors with the density of extracellular matrix glycosaminoglycans (the main components of the extracellular matrix ‘ground substance’), in nearly 400 primary samples. We also studied the relationship between the density of extracellular matrix glycosaminoglycans and the expression of B3GALT6, an enzyme required for their synthesis. We associated a decrease in glycosaminoglycans with neuroblast…
Crystal and molecular structure studies of (Z)-N-methyl-C-4-substituted phenyl nitrones by XRD, DFT, FTIR and NMR methods
2017
Abstract (Z)-N-methyl-C-4-substituted phenyl nitrones –O+N(Me)=C(H)R (Z-2a R = 4-ClC6H4, Z-2b R = 4-NO2C6H4, Z-2c R = 4-CH3OC6H4) were synthesized and characterized by elemental analyses, FTIR, 1H, 13C and DEPT-135 NMR spectroscopy and also by single crystal X-ray diffraction (in the case of Z-2a and Z-2b). The geometries of the nitrone molecules Z-2a, Z-2b and Z-2c and their E-isomers; (E)-N-methyl-C-4-chlorophenyl nitrone E-2a, (E)-N-methyl-C-4-nitrophenyl nitrone E-2b and (E)-N-methyl-C-4-methoxyphenyl nitrone E-2c were optimized using density functional theory (DFT) at the B3LYP/6-311++G(d,p) level of theory. The theoretical vibrational frequencies obtained by DFT calculations are in go…
Systematic trends in (0 0 1) surface ab initio calculations of ABO 3 perovskites
2018
This work was supported by the Latvian Council of Science Grant No. 374/2012 and the Latvian National Research Program IMIS2. Many stimulating discussions with D. Vanderbilt, K.M. Rabe, M. Rohlfing, E. Heifets, J. Maier, G. Borstel and E.A. Kotomin are greatly acknowledged.