نتایج جستجو برای: 19 new variant

تعداد نتایج: 2323532  

Journal: :Biophysical Journal 2008
Zhaohua Guo Caixia Lv Hong Yi Yu Xiong Yingliang Wu Wenxin Li Tao Xu Jiuping Ding

Single large-conductance calcium-activated K(+) (BK) channels encoded by the mSlo gene usually have synchronous gating, but a Drosophila dSlo (A2/C2/E2/G5/10) splice variant (dSlo1A) exhibits very flickery openings. To probe this difference in gating, we constructed a mutant I323T. This channel exhibits four subconductance levels similar to those of dSlo1A. Rectification of the single-channel c...

2011
Maren Daraktchiev

A paper prepared by the Health Protection Analytical team and presented to the Advisory Committee on Dangerous Pathogens Transmissible Spongiform Encephalopathy Risk Assessment SubGroup -"Blood Borne Transmission of vCJD Re-examination of Scenarios". Public, the science community and health professionals with specific interest in the blood borne risk of human prion disease. "On vCJD transmissio...

Journal: :Folia neuropathologica 2013
Richard A Armstrong

Two morphological types of prion protein (PrPsc) deposit occur in the cerebral cortex of cases of variant Creutzfeldt-Jakob disease (vCJD), viz., diffuse and florid deposits. The objective of this study was to determine whether diffuse-type PrPsc deposits in areas of the cerebral cortex in six cases of the variant form of CJD (vCJD) were spatially correlated with neurons and whether diffuse dep...

2007
Klaus Dietz Günter Raddatz Jonathan Wallis Norbert Müller Inga Zerr Hans-Peter Duerr Hans Lefèvre Erhard Seifried Johannes Löwer

Variant Creutzfeldt-Jakob disease (vCJD) may be transmissible by blood. To prevent secondary transmission through blood components, several countries have started to exclude as donors persons who have received a blood transfusion. We investigated the effectiveness of this measure by using a dynamic age-structured model. It is the first such model based on epidemiologic data: 1) blood donor acti...

2012
Abigail B. Diack Diane Ritchie Matthew Bishop Victoria Pinion Jean-Philippe Brandel Stephane Haik Fabrizio Tagliavini Cornelia Van Duijn Ermias D. Belay Pierluigi Gambetti Lawrence B. Schonberger Pedro Piccardo Robert G. Will Jean C. Manson

Variant Creutzfeldt-Jakob disease (vCJD) has been reported in 12 countries. We hypothesized that a common strain of agent is responsible for all vCJD cases, regardless of geographic origin. To test this hypothesis, we inoculated strain-typing panels of wild-type mice with brain material from human vCJD case-patients from France, the Netherlands, Italy, and the United States. Mice were assessed ...

2012
Manuela Zanda Suna Onengut Neil Walker John A Todd David G Clayton Stephen S Rich Matthew E Hurles Vincent Plagnol

Genet. Epidemiol. 36:895–898, 2012. C © 2012 Wiley Periodicals, Inc. ∗Correspondence to: Vincent Plagnol, UCL Genetics Institute (UGI), Department of Genetics, Environment and Evolution, UCL Office 210, Darwin Building, Gower Street, London WC1E 6BT, UK. E-mail: [email protected] Received 6 June 2012; Accepted 25 July 2012 Published online 12 September 2012 in Wiley Online Library (wileyonlin...

Journal: :Protein engineering, design & selection : PEDS 2008
Andreas Jonsson Jakob Dogan Nina Herne Lars Abrahmsén Per-Ake Nygren

We describe the development of a novel serum albumin binding protein showing an extremely high affinity (K(D)) for HSA in the femtomolar range. Using a naturally occurring 46-residue three-helix bundle albumin binding domain (ABD) of nanomolar affinity for HSA as template, 15 residues were targeted for a combinatorial protein engineering strategy to identify variants showing improved HSA affini...

Background: Several studies investigated the association of ACE I/D polymorphism with the risk and severity of COVID-19 infection.  However, the information in each of the published studies is limited, and the results were inconsistent or even contradictory. Accordingly, this meta-analysis evaluated the association between the ACE I/D polymorphism and COVID-19 susceptibility and severity. Metho...

2010
Robert Ghrist Michael Robinson

We consider a topological integral transform of Bessel (concentric isospectral sets) type and Fourier (hyperplane isospectral sets) type, using the Euler characteristic as a measure. These transforms convert constructible Z-valued functions to continuous R-valued functions over R n. Core contributions include: the definition of the topological Bessel transform; a relationship in terms of the lo...

2013
Carsten Posovszky Veronika Pfalzer Georgia Lahr Jan Hendrik Niess Jochen Klaus Benjamin Mayer Klaus-Michael Debatin Georg BT von Boyen

BACKGROUND Influence of genetic variants in the NOD2 gene may play a more important role in disease activity, behaviour and treatment of pediatric- than adult-onset Crohn's disease (CD). METHODS 85 pediatric- and 117 adult-onset CD patients were tested for the three main NOD2 CD-associated variants (p.R702W, p.G908R and p.10007fs) and clinical data of at least two years of follow-up were comp...

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