Search results for "1]"

Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.

2003

Multiple epiphyseal dysplasia (MED) is a generalised skeletal dysplasia that although relatively mild is associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. In the past, the disorder was subdivided into the milder Ribbing type, usually with flattened epiphyses,1 and the more severe Fairbank type with round epiphyses,2 but many cases were not classifiable as clearly either type.3 MED can be caused by mutations in at least six separate genes: COMP ,4–7 collagen IX ( COL9A1 , COL9A2 , and COL9A3 ),8–13 matrilin 3 ( MATN3 ),15 and the sulphate transporter, DTDST ( DTDST/SLC26A2 ). We have previously repor…

Glycogen synthase 2 is a novel target gene of peroxisome proliferator-activated receptors.

2007

International audience; Glycogen synthase 2 (Gys-2) is the ratelimiting enzyme in the storage of glycogen in liver and adipose tissue, yet little is known about regulation of Gys-2 transcription. The peroxisome proliferator-activated receptors (PPARs) are transcription factors involved in the regulation of lipid and glucose metabolism and might be hypothesized to govern glycogen synthesis as well. Here, we show that Gys-2 is a direct target gene of PPARalpha, PPARbeta/delta and PPARgamma. Expression of Gys-2 is significantly reduced in adipose tissue of PPARalpha-/-, PPARbeta/delta-/- and PPARgamma+/- mice. Furthermore, synthetic PPARbeta/delta, and gamma agonists markedly up-regulate Gys-2…

Aliciklisko alfa-aminoskābju sintēze

2017

Aliciklisko α-aminoskābju sintēze. Stamberga D., zinātniskie vadītāji Dr.chem. Kauss V. un Dr.h.chem., prof. Zicmanis A. Maģistra darbs, 52 lappuses, 36 attēli, 4 tabulas, 48 literatūras avoti. Latviešu valodā. Maģistra darbā ir apskatītas dažādas bi- un tri-(ali)ciklisko α-aminoskābju sintēžu metodes, kā arī dots ieskats enantioselektīvā Dīlsa-Aldera ciklopievienošanās reakcijā biciklo[2.2.1]heptēna fragmenta sintēzei. Literatūras apskatā apkopota informācija par laika periodu no 1973. līdz 2017. gadam, izmantojot datubāzes SciFinder un Espacenet. Darba gaitā izstrādāta metode (R) un (S)-3-(adamantan-1-il)-2-((treš-butoksikarbonil)amino)propānskābju sintēzei četrās stadijās, (1R,2S,4S)-2-(…

Absolutely summing operators on C[0,1] as a tree space and the bounded approximation property

AbstractLet X be a Banach space. For describing the space P(C[0,1],X) of absolutely summing operators from C[0,1] to X in terms of the space X itself, we construct a tree space ℓ1tree(X) on X. It consists of special trees in X which we call two-trunk trees. We prove that P(C[0,1],X) is isometrically isomorphic to ℓ1tree(X). As an application, we characterize the bounded approximation property (BAP) and the weak BAP in terms of X∗-valued sequence spaces.

The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder: association signals in DRD4, DAT1 and 16 other genes.

2006

Contains fulltext : 35205.pdf (Publisher’s version ) (Closed access) Attention deficit hyperactivity disorder (ADHD) is a common neurodevelopmental disorder, starting in early childhood and persisting into adulthood in the majority of cases. Family and twin studies have demonstrated the importance of genetic factors and candidate gene association studies have identified several loci that exert small but significant effects on ADHD. To provide further clarification of reported associations and identify novel associated genes, we examined 1,038 single-nucleotide polymorphisms (SNPs) spanning 51 candidate genes involved in the regulation of neurotransmitter pathways, particularly dopamine, nor…

Genome-wide association scan of attention deficit hyperactivity disorder

2008

Contains fulltext : 70191.pdf (Publisher’s version ) (Closed access) Results of behavioral genetic and molecular genetic studies have converged to suggest that genes substantially contribute to the development of attention deficit/hyperactivity disorder (ADHD), a common disorder with an onset in childhood. Yet, despite numerous linkage and candidate gene studies, strongly consistent and replicable association has eluded detection. To search for ADHD susceptibility genes, we genotyped approximately 600,000 SNPs in 958 ADHD affected family trios. After cleaning the data, we analyzed 438,784 SNPs in 2,803 individuals comprising 909 complete trios using ADHD diagnosis as phenotype. We present t…

The CO-releasing molecule CORM-3 protects against articular degradation in the K/BxN serum transfer arthritis model.

2010

Contains fulltext : 89015.pdf (Publisher’s version ) (Closed access) Carbon monoxide-releasing molecules can counteract inflammatory responses. The aim of this study was to investigate whether tricarbonylchloro(glycinate)ruthenium (II) (CORM-3) is able to control the effector phase of experimental arthritis. Arthritis was induced in C57Black-6 mice by an intraperitoneal injection of serum from arthritic K/BxN mice. CORM-3 was administered intraperitoneally at 10 mg/kg/day (5 mg/kg twice a day) from days 0 to 10 and animals were sacrificed on day 11. Serum levels of osteocalcin and prostanoids were measured by enzyme-linked immunosorbent assay and radioimmunoassay. Gene expression was determ…

Cardiac threat appraisal and depression after first myocardial infarction

2012

The present study investigated cardiac threat appraisal and its association with depression after first myocardial infarction (MI). A semi-structured interview allowing for DSM-IV-Axis I diagnoses was administered to 36 patients after first MI. Patients completed self-reports 5 to 15 days after the MI (time 1), 6 to 8 weeks later (time 2) and again 6 months later (time 3). Assessments at time 1 included indices of cardiac threat appraisal, locus of control, coping, and depression while at time 2 and time 3 only measures of depression were obtained. Cardiac threat appraisal was significantly correlated with depression at time 1, but was unrelated to depression scores at time 2 and time 3. Fu…

Synthesis of 8-aminomorphans with high KOR affinity

2021

2-Azabicyclo[3.3.1]nonanes (morphans) with a (3,4-dichlorophenyl)acetyl group at 2-position and a pyrrolidino moiety at 8-position were designed as conformationally restricted analogs of piperidine-based KOR agonists. The synthesis started with 4-oxopiperidine-2-carboxylic acid comprising 13 reaction steps. At first the ketone 10 was transformed into diester 7 bearing a propionate side chain. Dieckmann condensation of diester 7 to afford bicyclic enolester 14 and subsequent Krapcho deethoxycarbonylation represent the key steps of the synthesis. The enantiomeric pyrrolidines (1S,5R,8R)-5a and (1R,5S,8S)-5a were separated by chiral HPLC. The eutomer (1S,5R,8R)-5a showed high KOR affinity (K-i…

Genetic ablation of macrohistone H2A1 leads to increased leanness, glucose tolerance and energy expenditure in mice fed a high-fat diet.

2015

Contains fulltext : 155347.pdf (Publisher’s version ) (Closed access) BACKGROUND/OBJECTIVES: In the context of obesity, epigenetic mechanisms regulate cell-specific chromatin plasticity, perpetuating gene expression responses to nutrient excess. MacroH2A1, a variant of histone H2A, emerged as a key chromatin regulator sensing small nutrients during cell proliferation and differentiation. Mice genetically ablated for macroH2A1 (knockout (KO)) do not show overt phenotypes under a standard diet. Our objective was to analyse the in vivo role of macroH2A1 in response to nutritional excess. METHODS: Twelve-week-old whole-body macroH2A1 KO male mice were given a high-fat diet (60% energy from lard…