76,411 research outputs found
Introduction
No full textIntroduzione alla nuova serie edita da Edizioni Ca'Foscari, dopo la prima parte edita da Hakkert (Amsterdam) fin dal 198
Ricordo di Romeo Salvatori
No full textRicordo del Professor Romeo Salvatori, docente di Lettere nel Liceo Ginnasio "Pellegrino Rossi" di Massa Carrar
An association analysis of microsatellite markers across the Prader-Willi/Angelman critical region on chromosome 15 (q11-13) and autism spectrum disorder
No full textAutism (OMIM 209850) is a neurodevelopmental disorder with a significant genetic component of a complex nature. Cytogenetic abnormalities in the Prader-Willi/Angelman syndrome critical region (PWACR) on chromosome 15 (q11-13) have been described in several individuals with autism. We have examined five microsatellite markers spread across the 4 Mb PWACR for linkage disequilibrium (LD) in 148 families with autism spectrum disorder (ASD) and a subset of 82 families with autism using the extended transmission disequilibrium test (ETDT). The markers examined were D15S11, D15S128, D15S1506, GABRB3, and D15S1002. In addition we have examined the microsatellite D15S822 for hemizygous deletion status in our sample as it had been previously reported to be increased in autism. We found no significant LD with any of the markers tested either in the ASD or autism families when looking at paternal and maternal meioses combined. However, as there are known imprinted genes in the region, including possibly GABRB3, we also examined for LD in paternal and maternal meioses separately. Examining paternal transmissions only, we found marginal evidence for LD with a protective allele at marker D15S11 in the ASD families (Chi-sq 7 df, P = 0.05) and marginal evidence for risk alleles at markers D15S1506 (Chi-sq 13.7, 6 df, P = 0.06), GABRB3 (Chi-sq 15.9, 8 df, P = 0.11) and D15S1002 (Chi-sq 17.7, 9 df, P = 0.08) in the autism only families. The allele responsible for the association with GABRB3 is the 191 allele which was previously reported to be overtransmitted. Hemizygous deletion of the microsatellite D15S822 was found in 3 out of 340 independent chromosomes in our sample; a rate of 0.8%. This is not significantly different to the frequency in the general population. In conclusion, our results did not rule out the involvement of this chromosomal region, but provided further evidence, albeit very limited, to implicate GABRB3. Further more systematic work in larger samples is required and confirmation that GABRB3 is imprinted is desirable
Episode length and mixed features as predictors of ECT nonresponse in patients with medication-resistant major depression
No full textA feasibility study of a potential dimension stone occurrence of brown granite in Nopala (Finland)
No full textPhotostable, amino reactive and water-soluble fluorescent labels based on sulfonated rhodamine with a rigidized xanthene fragment.
No full textHighly water soluble fluorescentdyes were synthesized and transformedinto new amino reactive fluorescentlabels for biological microscopy.To this end,rhodamine 8 (preparedfrom 7-hydroxy-1,2,3,4-tetrahydroquinoline(7) and phthalic anhydride in85% aq. H3PO4) was sulfonated with30% SO3 in H2SO4 and afforded thewater soluble disulfonic acid 3a (64%).Amidation of the carboxy group in 3awith 2-(methylamino)ethanol in thepresence of O-(7-azabenzotriazol-1-yl)-N,N,N’,N’-tetramethyluronium·PF6(HATU) led to alcohol 3b (66%),which was transformed into the aminoreactive mixed carbonate 3d with di(Nsuccinimidyl)carbonate and Et3N. Reactionof the carboxy group in 3a withMeNHACHTUNGTRENUNG(CH2)2CO2Me and N,N,N’,N’-tetramethyl-O-(N-succinimidyl)-uronium·BF4 (TSTU) yielded methylester 13. After saponification of the aliphaticcarboxy group in 13,the compoundwas converted into NHS-ester3e (using HATU and Et3N). Heatingof 7 with trimellitic anhydride inH3PO4 gave a mixture of dicarboxylicacids 14 and 15 (1:1). Regioisomer 15was isolated,sulfonat ed with 30% SO3in H2SO4,and disulfonic acid 3 f wasused for the synthesis of the monoNHS-ester 3g,in which the stericallyunhindered carboxy group was selectivelyactivated (with N-hydroxysuccinimide,HA TU,and Et3N). The sulfonatedrhodamines 3b, c and f are solublein water (up to 0.1m),have excellentphotostabilities and large fluorescencequantum yields. Subdiffractionresolution images of tubulin filamentsof mammalian cells stained with thesedyes illustrate their applicability aslabels for stimulated emission depletionmicroscopy and other fluorescencetechniques.Fil: Boyarskiy, Vadim P.. Max Planck Institute for Biophysical Chemistry; Alemania. Saint Petersburg State University; RusiaFil: Belov, Vladimir N.. Max Planck Institute for Biophysical Chemistry; AlemaniaFil: Medda, Rebecca. Max Planck Institute for Biophysical Chemistry; AlemaniaFil: Hein, Birka. Max Planck Institute for Biophysical Chemistry; AlemaniaFil: Bossi, Mariano Luis. Max Planck Institute for Biophysical Chemistry; Alemania. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Química, Física de los Materiales, Medioambiente y Energía. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Instituto de Química, Física de los Materiales, Medioambiente y Energía; ArgentinaFil: Hell, Stefan W.. Max Planck Institute for Biophysical Chemistry; Alemani
Comparative Response to Electroconvulsive Therapy in Medication-Resistant Bipolar I Patients With Depression and Mixed State
No full textReactions of plant copper/topaquinone amine oxidases with N6–aminoalkyl derivatives of adenine
No full textPlant copper/topaquinone-containing amine oxidases (CAOs, EC 1.4.3.6) are enzymes oxidising various amines. Here we
report a study on the reactions of CAOs from grass pea (Lathyrus sativus), lentil (Lens esculenta) and Euphorbia characias, a
Mediterranean shrub, with N6-aminoalkyl adenines representing combined analogues of cytokinins and polyamines. The
following compounds were synthesised: N6-(3-aminopropyl)adenine, N6-(4-aminobutyl)adenine, N6-(4-amino-trans-but-2-
enyl)adenine, N6-(4-amino-cis-but-2-enyl)adenine and N6-(4-aminobut-2-ynyl)adenine. From these, N 6-(4-aminobutyl)
adenine and N6-(4-amino-trans-but-2-enyl)adenine were found to be substrates for all three enzymes ðKm , 1024MÞ:
Absorption spectroscopy demonstrated such an interaction with the cofactor topaquinone, which is typical for common
diamine substrates. However, only the former compound provided a regular reaction stoichiometry. Anaerobic absorption
spectra of N6-(3-aminopropyl)adenine, N6-(4-amino-cis-but-2-enyl)adenine and N6-(4-aminobut-2-ynyl)adenine reactions
revealed a similar kind of initial interaction, although the compounds finally inhibited the enzymes. Kinetic measurements
allowed the determination of both inhibition type and strength; N 6-(3-aminopropyl)adenine and N6-(4-amino-cis-but-2-
enyl)adenine produced reversible inhibition ðKi , 1025 –1024MÞ whereas, N 6-(4-aminobut-2-ynyl)adenine could be considered a powerful inactivator
Caratteristiche clinico-demografiche di pazienti sottoposti a Terapia Elettroconvulsivante
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