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Objective: Copy number variation is a common polymorphic phenomenon within the human genome. Although the majority of these events are non-deleterious they can also be highly pathogenic. Herein we characterize five families with parkinsonism that have been identified to harbor multiplication of the chromosomal 4q21 locus containing the a-synuclein gene (SNCA). Methods: A methodological approach us
M1 aminopeptidases comprise a large family of biologically important zinc enzymes. We show that peptide turnover by the M1 prototype, leukotriene A4 hydrolase/aminopeptidase, involves a shift in substrate position associated with exchange of zinc coordinating groups, while maintaining the overall coordination geometry. The transition state is stabilized by residues conserved among M1 members and i
A quantitative reverse transcription-PCR (qRT-PCR) method was developed to monitor the relative expression of the type B botulinum neurotoxin (BoNT/B) gene (cntB) in Clostridium botulinum. The levels of cntB mRNA in five type B strains were accurately monitored by using primers specific for cntB and for the reference gene encoding the 16S rRNA. The patterns and relative expression of cntB were dif
Surface-associated M protein is a major virulence factor in Streptococcus pyogenes which confers bacterial resistance to phagocytosis. However, many S. pyogenes strains also express additional structurally related so-called M-like proteins. The strain studied here is of the clinically important M1 serotype and expresses two structurally related surface proteins, the M1 protein and protein H. Mutan
Resonant Auger spectra of large argon clusters have been measured at the Ar 2p edge. The decay spectra can give some information on the states reached in photon absorption. For example, the observation of the 3p(4)4p final states indicates the occurrence of the 2p(3/2)-> 4p excitation in clusters, whereas in atoms this excitation is dipole forbidden. Also the 3p(4)3d final states are identified in
This study estimated the risk of second primary malignancies after Hodgkin's lymphoma (HL) in relation to family history of cancer, age at diagnosis and latency, among 6946 patients treated for HL in Sweden in 1965-1995 identified through the Swedish Cancer Register (SCR). First-degree relatives (FDRs) to the HL patients and their malignancies were then ascertained together with their malignancies
Communication over the copper twisted-pair channel is performed by transmitting and receiving differential-mode (DM) signals. In this paper, we extend the conventional DM receiver scheme by incorporating the common-mode (CM) signal, which is strongly correlated with the DM signal and can be extracted at the end of every wire pair. The wireline channel, including the CM receive signal, is modelled
Chondroadherin is a cell binding, leucine-rich repeat protein found in the territorial matrix of articular cartilage. Several members of the leucine-rich repeat protein family present in the extracellular matrix of e.g. cartilage have been shown to interact with collagen and influence collagen fibrillogenesis. We show that complexes of monomeric collagen type II and chondroadherin can be released
BACKGROUND: Toll-like receptors enable the host to recognize a large number of pathogen-associated molecular patterns such as bacterial lipopolysaccharide, viral RNA, CpG-containing DNA and flagellin. Toll-like receptors have also been shown to play a pivotal role in both innate and adaptive immune responses. The role of Toll-like receptors as a primary part of our microbe defense system has been
A classification for primary and incisional abdominal wall hernias is needed to allow comparison of publications and future studies on these hernias. It is important to know whether the populations described in different studies are comparable. Several members of the EHS board and some invitees gathered for 2 days to discuss the development of an EHS classification for primary and incisional abdom
The Euro50 is an astronomical extremely large telescope for optical and infrared wavelength with a 50 m primary mirror. The telescope will have an elaborate control system ("live optics") to correct for atmospheric and telescope aberrations. To study and predict performance of the complete telescope system, an integrated model combining the structural model of the telescope, optics models, the con
In an attempt to prepare structural and functional models for the active site of the hydrolytic enzyme zinc phosphotriesterase, five new zinc complexes of the ligands 2,6-bis[N-(N-(carboxylmethyl)-N-((1-methylimidazol)methyl)amine)methyl]-4-methylphenolate (BCIMP) and the corresponding asymmetric ligand 2-(N-isopropyl-N-((1-methylimidazolyl)methyl)aminomethyl)-6-(N-carboxylmethyl-N-((1-methylimida
In this work H-1 NMR self-diffusion experiments have been performed to determine the self-diffusion coefficients of n-octyl beta-D-glucoside and n-nonyl beta-D-glucoside in alpha-cyclodextrin and beta-cyclodextrin solutions at 25 degreesC. Two questions are addressed. The first concerns the general influence on nonionic surfactant transport properties when cyclodextrins are present in solution. Th
An accurate and variationally consistent 4-node quadrilateral element is introduced where high coarse mesh accuracy and low mesh distortion sensitivity are characteristic qualities, even when incompressibility is approached for plane strain. One-point quadrature integration procedure is adopted and a new improved stabilization technique is developed. Orthogonality conditions are utilized so that t
The growth of iron phthalocyanine (FePc) on InSb(001) c(8 x 2) at submonolayer coverage has been investigated with scanning tunneling microscopy (STM). FePc adsorbs flat centered on the In rows both at 70 K and at room temperature (RT). However, the shapes of the two-dimensional molecular islands are fundamentally different; while the RT growth results in chainlike structures along the [I 10] dire
In this paper we derive several important results towards a better understanding of propagation characteristics of resilient Boolean functions. We first introduce a new upper bound on nonlinearity of a given resilient function depending on the propagation criterion. We later show that a large class of resilient functions admit a linear structure; more generally, we exhibit some divisibility proper
The objective of this study was to investigate the feasibility of the Aerodynamic Particle Sizer (APS) and the Electrical Low-Pressure Impactor (ELPI) to study mass weighted particle size distributions. Unimodal and bimodal liquid test aerosols were produced to a small chamber. Simultaneous measurements were performed with an APS 3320, an APS 3321, an ELPI and a Dekati Low-Pressure Impactor (DLPI)
The ultrastructure of embryonic chick cartilage proteoglycan core protein was investigated by electron microscopy of specimens prepared by low angle shadowing. The molecular images demonstrated a morphological substructural arrangement of three globular and two linear regions within each core protein. The internal globular region (G2) was separated from two terminally located globular regions (G1
The extracellular matrix molecule tenascin-R (TN-R) and the proteoglycans of the lectican family show an overlapping distribution in the developing brain, have been implicated in similar cellular processes and form a complex network of interactions. Previously, we have demonstrated that TN-R induces microprocesses along neurites and enlarged growth cones of tectal cells by interacting with the cel
