Zobrazeno 1 - 10
of 245
pro vyhledávání: '"Peter, Lohse"'
Autor:
Fabian Schnitzler, Matthias Friedrich, Marianne Angelberger, Julia Diegelmann, Johannes Stallhofer, Christiane Wolf, Joel Dütschler, Samuel Truniger, Torsten Olszak, Florian Beigel, Cornelia Tillack, Peter Lohse, Stephan Brand
Publikováno v:
PLoS ONE, Vol 15, Iss 7, p e0236421 (2020)
BackgroundNOD2 variants are the strongest genetic predictors for susceptibility to Crohn's disease (CD). However, the clinical value of NOD2 on an individual patient level remains controversial. We aimed to define the predictive power of the major NO
Externí odkaz:
https://doaj.org/article/6e6e289b220345358b5af08eb7ee9da1
Autor:
A. Dessa Sadovnick, Anthony L. Traboulsee, Cecily Q. Bernales, Jay P. Ross, Amanda L. Forwell, Irene M. Yee, Lena Guillot-Noel, Bertrand Fontaine, Isabelle Cournu-Rebeix, Antonio Alcina, Maria Fedetz, Guillermo Izquierdo, Fuencisla Matesanz, Kelly Hilven, Bénédicte Dubois, An Goris, Ianire Astobiza, Iraide Alloza, Alfredo Antigüedad, Koen Vandenbroeck, Denis A. Akkad, Orhan Aktas, Paul Blaschke, Mathias Buttmann, Andrew Chan, Joerg T. Epplen, Lisa-Ann Gerdes, Antje Kroner, Christian Kubisch, Tania Kümpfel, Peter Lohse, Peter Rieckmann, Uwe K. Zettl, Frauke Zipp, Lars Bertram, Christina M Lill, Oscar Fernandez, Patricia Urbaneja, Laura Leyva, Jose Carlos Alvarez-Cermeño, Rafael Arroyo, Aroa M. Garagorri, Angel García-Martínez, Luisa M. Villar, Elena Urcelay, Sunny Malhotra, Xavier Montalban, Manuel Comabella, Thomas Berger, Franz Fazekas, Markus Reindl, Mascha C. Schmied, Alexander Zimprich, Carles Vilariño-Güell
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 6, Iss 7, Pp 2073-2079 (2016)
Multiple sclerosis (MS) is a prevalent neurological disease of complex etiology. Here, we describe the characterization of a multi-incident MS family that nominated a rare missense variant (p.G420D) in plasminogen (PLG) as a putative genetic risk fac
Externí odkaz:
https://doaj.org/article/ad94b930f9574b93ac8b8955b0887d3c
Autor:
Thomas Wittmann, Sabrina Frixel, Stefanie Höppner, Ulrike Schindlbeck, Andrea Schams, Matthias Kappler, Jan Hegermann, Christoph Wrede, Gerhard Liebisch, Anne Vierzig, Angela Zacharasiewicz, Matthias Volkmar Kopp, Christian F Poets, Winfried Baden, Dominik Hartl, Anton H van Kaam, Peter Lohse, Charalampos Aslanidis, Ralf Zarbock, Matthias Griese
Publikováno v:
Molecular Medicine, Vol 22, Iss 1, Pp 183-191 (2016)
Abstract The ABCA3 gene encodes a lipid transporter in type II pneumocytes critical for survival and normal respiratory function. The frequent ABCA3 variant R288K increases the risk for neonatal respiratory distress syndrome among term and late prete
Externí odkaz:
https://doaj.org/article/ae2deae668ac47a59d916cfdbe348b64
Autor:
Roman Pavlik, Stephanie Hecht, Ulrich Noss, Offie P. Soldin, Rao D. Mendu, Steven J. Soldin, Peter Lohse, Christian J. Thaler
Publikováno v:
Geburtshilfe und Frauenheilkunde. 82(10)
Objective To compare steroid profiles in the follicular fluid (FF) from women homozygous for the methylenetetrahydrofolate reductase (MTHFR) 677C>T mutation and wildtype controls and to correlate it with the folic acid administration scheme applied a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7baecd2c9cd620a387ef236073d50cd3
https://pubmed.ncbi.nlm.nih.gov/36186148
https://pubmed.ncbi.nlm.nih.gov/36186148
Autor:
Peter Lohse, Fritjof Reinhardt, Markus Christoph Reckhardt, Tobias Steinmetzer, Ingrid Bonninger, Heinz Reichmann
Publikováno v:
Fortschritte der Neurologie · Psychiatrie. 88:500-513
ZusammenfassungIn einer Pilotstudie an 60 neurologischen Langzeitpatienten (degenerative zerebrale Mikroangiopathie mit reduzierter sensomotorischer Stabilität) erfolgt eine erste Überprüfung der Praxistauglichkeit eines eigens entwickelten Konzep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9db7e588082d35207410463cb27584b4
https://doi.org/10.1055/a-1028-7073
https://doi.org/10.1055/a-1028-7073
Autor:
Fabian Schnitzler, Matthias Friedrich, Christiane Wolf, Johannes Stallhofer, Marianne Angelberger, Julia Diegelmann, Torsten Olszak, Cornelia Tillack, Florian Beigel, Burkhard Göke, Jürgen Glas, Peter Lohse, Stephan Brand
Publikováno v:
PLoS ONE, Vol 10, Iss 7, p e0116044 (2015)
A previous study suggested an association of the single nucleotide polymorphism (SNP) rs72796353 (IVS4+10 A>C) in the NOD2 gene with susceptibility to Crohn's disease (CD). However, this finding has not been confirmed. Given that NOD2 variants still
Externí odkaz:
https://doaj.org/article/921afa03548a4421a5bd042ff3838452
Autor:
Fabian Schnitzler, Matthias Friedrich, Christiane Wolf, Marianne Angelberger, Julia Diegelmann, Torsten Olszak, Florian Beigel, Cornelia Tillack, Johannes Stallhofer, Burkhard Göke, Jürgen Glas, Peter Lohse, Stephan Brand
Publikováno v:
PLoS ONE, Vol 9, Iss 11, p e108503 (2014)
Very recently, a sub-analysis of genome-wide association scans revealed that the non-coding single nucleotide polymorphism (SNP) rs12212067 in the FOXO3A gene is associated with a milder course of Crohn's disease (CD) (Cell 2013;155:57-69). The aim o
Externí odkaz:
https://doaj.org/article/1695bec1287a460dbfdd41461a1f2b52
Autor:
Peter Lohse, Sylke Maas, Pia Lohse, Milan Elleder, Jean M. Kirk, Guy T.N. Besley, Dietrich Seidel
Publikováno v:
Journal of Lipid Research, Vol 41, Iss 1, Pp 23-31 (2000)
Cholesteryl ester storage disease and Wolman disease are rare autosomal recessive lipoprotein-processing disorders caused by mutations in the gene encoding human lysosomal acid lipase. Thus far we have elucidated the genetic defects in 15 unrelated C
Externí odkaz:
https://doaj.org/article/13635d10309c402c9c25a859563abebb
Publikováno v:
Journal of Lipid Research, Vol 40, Iss 2, Pp 221-228 (1999)
Human lysosomal acid lipase/cholesteryl ester hydrolase (hLAL) is essential for the intralysosomal metabolism of cholesteryl esters and triglycerides taken up by receptor-mediated endocytosis of lipoprotein particles. The key role of the enzyme in in
Externí odkaz:
https://doaj.org/article/f312dcdf542944098cbb6acef196ec2a
Autor:
Isabelle Jéru, Serge Charmion, Emmanuelle Cochet, Bruno Copin, Philippe Duquesnoy, Maria Teresa Mitjavila Garcia, Gaëlle Le Borgne, Pascal Cathebras, Jacques Gaillat, Sonia Karabina, Catherine Dodé, Peter Lohse, Véronique Hentgen, Serge Amselem
Publikováno v:
PLoS ONE, Vol 8, Iss 7, p e69757 (2013)
OBJECTIVES: TNFRSF1A is involved in an autosomal dominant autoinflammatory disorder called TNFR-associated periodic syndrome (TRAPS). Most TNFRSF1A mutations are missense changes and, apart from those affecting conserved cysteines, their deleterious
Externí odkaz:
https://doaj.org/article/a7df9f4a313f47e890afe480545ec82c