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showing 10 items of 4384 documents
Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients
1998
SummaryNail-patella syndrome (NPS), a pleiotropic disorder exhibiting autosomal dominant inheritance, has been studied for >100 years. Recent evidence shows that NPS is the result of mutations in the LIM-homeodomain gene LMX1B. To determine whether specific LMX1B mutations are associated with different aspects of the NPS phenotype, we screened a cohort of 41 NPS families for LMX1B mutations. A total of 25 mutations were identified in 37 families. The nature of the mutations supports the hypothesis that NPS is the result of haploinsufficiency for LMX1B. There was no evidence of correlation between aspects of the NPS phenotype and specific mutations.
Domain formation in monolayers
1995
For phospholipids at the air/water interface we demonstrate that molecular chirality in some, but not in all, cases influences the domain shapes. In other cases chirality in the head group region can cause a chiral structure considering the tail arrangement. This indicates head group ordering. Minute changes of the molecular structure may change domain morphology from circular to dendritic. This can be related to slight changes of the lattice structure. In case of a dendritic domain the chains are more tilted, the deviation from hexagonal symmetry is more pronounced, and hence the lattice anisotropy is larger. This can be understood also in view of recent simulations considering diffusion-l…
Modeling of the N-terminal Section and the Lumenal Loop of Trimeric Light Harvesting Complex II (LHCII) by Using EPR
2015
The major light harvesting complex II (LHCII) of green plants plays a key role in the absorption of sunlight, the regulation of photosynthesis, and in preventing photodamage by excess light. The latter two functions are thought to involve the lumenal loop and the N-terminal domain. Their structure and mobility in an aqueous environment are only partially known. Electron paramagnetic resonance (EPR) has been used to measure the structure of these hydrophilic protein domains in detergent-solubilized LHCII. A new technique is introduced to prepare LHCII trimers in which only one monomer is spin-labeled. These heterogeneous trimers allow to measure intra-molecular distances within one LHCII mon…
Prediction of properties of chiral compounds by molecular topology
1998
Abstract A common assumption in chemistry is that chiral behavior is associated with 3-D geometry. However, chiral information is related to symmetry, which allows the topological handling of chiral atoms by weighted graphs and the calculation of new descriptors that give a weight to the corresponding entry in the main diagonal of the topological matrix. In this study, it is demonstrated that, operating in this way, chiral topological indices are obtained that can differentiate the pharmacological activity between pairs of enantiomers. The 50% inhibitory concentration (IC50) values of the D2 dopamine receptor and the σ receptor for a group of 3-hydroxy phenyl piperidines are specifically pr…
The CdCl2 effects on synthetic DNAs encaged in the nanodomains of a cationic water-in-oil microemulsion
2011
The present work is dedicated to the study of the interactions of CdCl(2) with the synthetic polynucleotides polyAT and polyGC confined in the nanoscopic aqueous compartment of the water-in-oil microemulsion CTAB/pentanol/hexane/water, with the goal to mimic in vitro the situation met by the nucleic acids in vivo. In biological structures, in fact, very long strings of nucleic acids are segregated into very small compartments having a radius exceedingly smaller than the length of the encapsulated macromolecule. For comparison, the behaviour of polyGC was also studied in aqueous solutions of matched composition. The conformational and thermal stabilities of both polynucleotides enclosed in t…
Filosofian kahtiajako? : analyyttisen ja mannermaisen filosofian institutionaaliset tekijät
2020
Viimeisten vuosikymmenien aikana filosofian jakoa mannermaiseen ja analyyttiseen on tutkittu laajalti. Sekä kansallisissa että kansainvälisissä tutkimuksissa jaottelun käyttökel-poisuus on yhtäältä kyseenalaistettu mutta toisaalta sitä on myös vahvistettu yliopistofi-losofian opetuksessa, tutkimuksessa ja tieteellisissä kokouksissa. Miten jaottelua nykyään käytetään? Minkälaiset institutionaaliset tekijät ylläpitävät sitä? peerReviewed
Multi-parameter analysis of the obstacle scattering problem
2022
Abstract We consider the acoustic field scattered by a bounded impenetrable obstacle and we study its dependence upon a certain set of parameters. As usual, the problem is modeled by an exterior Dirichlet problem for the Helmholtz equation Δu + k 2 u = 0. We show that the solution u and its far field pattern u ∞ depend real analytically on the shape of the obstacle, the wave number k, and the Dirichlet datum. We also prove a similar result for the corresponding Dirichlet-to-Neumann map.
Pk-yritysten näkemyksiä markkinointiviestinnästä ja alueellisesta mediamainonnasta
2015
Median- ja teknologian murrokset ovat vaikuttaneet sekä kuluttajien median käyttöön, että yritysten mediamainontaan: median käyttö on pirstaloitunut ja digitaaliset välineet ovat yhä merkittävämmässä roolissa ihmisten elämää. Tekninen kehitys on myös mullistanut yritysten markkinointiviestinnän luonteen ja toteuttamisen. Kehityksen seurauksena yksittäiset, perinteiset mediakanavat eivät palvele markkinoijia tai kuluttajia enää entiseen tapaan. Tässä tutkimuksessa tarkastellaan keskisuomalaisten pk-yritysten markkinointiviestinnän suunnitteluaja mediamainontaa nykyisessä toimintaympäristössä. Tutkimus toteutettiin haastattelemalla kahdeksan yrityksen markkinoinnista vastaavia henkilöitä, jot…
Suomen Etelämanner-tutkimuksen maine stakeholdereiden silmin
2005
Exclusive measurement of quasi-free η-photoproduction from deuterium
2003
Quasi-free photoproduction of eta-mesons from the deuteron has been measured at the tagged photon facility of the Mainz microtron MAMI with the photon spectrometer TAPS for incident photon energies from the production threshold at 630 MeV up to 820 MeV. In a fully exclusive measurement eta-mesons and recoil nucleons were detected in coincidence. At incident photon energies above the production threshold on the free nucleon, where final state interaction effects are negligible, an almost constant ratio of sigma(n)/sigma(p)=0.66+/-0.10 was found. At lower incident photon energies the ratio rises due to re-scattering effects. The average ratio agrees with the value extracted from a comparison …