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  • 1
    Keywords: PROTEINS ; DIFFERENTIATION ; SONIC HEDGEHOG ; FAMILIES ; REQUIREMENT ; progenitor ; UPSTREAM ; MALFORMATIONS ; EPISPADIAS COMPLEX ; HOMEODOMAIN
    Abstract: The bladder exstrophy-epispadias complex (BEEC) represents the severe end of the uro-rectal malformation spectrum, and is thought to result from aberrant embryonic morphogenesis of the cloacal membrane and the urorectal septum. The most common form of BEEC is isolated classic bladder exstrophy (CBE). To identify susceptibility loci for CBE, we performed a genome-wide association study (GWAS) of 110 CBE patients and 1,177 controls of European origin. Here, an association was found with a region of approximately 220kb on chromosome 5q11.1. This region harbors the ISL1 (ISL LIM homeobox 1) gene. Multiple markers in this region showed evidence for association with CBE, including 84 markers with genome-wide significance. We then performed a meta-analysis using data from a previous GWAS by our group of 98 CBE patients and 526 controls of European origin. This meta-analysis also implicated the 5q11.1 locus in CBE risk. A total of 138 markers at this locus reached genome-wide significance in the meta-analysis, and the most significant marker (rs9291768) achieved a P value of 2.13 x 10-12. No other locus in the meta-analysis achieved genome-wide significance. We then performed murine expression analyses to follow up this finding. Here, Isl1 expression was detected in the genital region within the critical time frame for human CBE development. Genital regions with Isl1 expression included the peri-cloacal mesenchyme and the urorectal septum. The present study identified the first genome-wide significant locus for CBE at chromosomal region 5q11.1, and provides strong evidence for the hypothesis that ISL1 is the responsible candidate gene in this region.
    Type of Publication: Journal article published
    PubMed ID: 25763902
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  • 2
    ISSN: 1432-119X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract  The expression pattern of galectin-1 and galectin-3 in the human olfactory epithelium was investigated in relation to olfactory marker protein (OMP) using confocal laser immunofluorescence in human specimens and postmortem biopsies. OMP expression was found in olfactory receptor neurons (ORNs) in the olfactory mucosa and in fibers of the olfactory nerve crossing the submucous connective tissue. Galectin-1 was expressed in both the connective tissue of the nasal cavity and in the basal layer of the olfactory epithelium. In contrast, galectin-3 expression was limited to cells of the upper one-third of the olfactory epithelium. Expression of galectin-3 occurred in a subset of OMP-positive cells. However, between areas of galectin-1 and galectin-3 expression in the lower and upper portion of the epithelium, OMP-positive ORNs did not stain for both galectins. Considering the potential role of galectin-1 and galectin-3 in cell differentiation and maturation, the differential localization of galectins in the olfactory epithelium appears to be consistent with a significant role of these molecules in the physiological turnover of ORNs.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 0021-8995
    Keywords: Chemistry ; Polymer and Materials Science
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology , Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics , Physics
    Notes: High-performance thermoplastic pressure-sensitive adhesives have been prepared by copolymerization of N-acryloylamino acid and acid derivatives with long-chain alkyl acrylate esters. A comparative study with equivalent copolymers made from conventional polar comonomers and long-chain alkyl acrylate esters has shown that the N-acryloylamino acids and derivatives impart generally higher levels of tack, adhesion, and cohesion than their conventional counterparts.
    Additional Material: 3 Ill.
    Type of Medium: Electronic Resource
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  • 4
    Publication Date: 2015-04-04
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Heilmann, Stefanie -- Drichel, Dmitriy -- Clarimon, Jordi -- Fernandez, Victoria -- Lacour, Andre -- Wagner, Holger -- Thelen, Mathias -- Hernandez, Isabel -- Fortea, Juan -- Alegret, Montserrat -- Blesa, Rafael -- Mauleon, Ana -- Roca, Maitee Rosende -- Kornhuber, Johannes -- Peters, Oliver -- Heun, Reinhard -- Frolich, Lutz -- Hull, Michael -- Heneka, Michael T -- Ruther, Eckart -- Riedel-Heller, Steffi -- Scherer, Martin -- Wiltfang, Jens -- Jessen, Frank -- Becker, Tim -- Tarraga, Lluis -- Boada, Merce -- Maier, Wolfgang -- Lleo, Alberto -- Ruiz, Agustin -- Nothen, Markus M -- Ramirez, Alfredo -- England -- Nature. 2015 Apr 2;520(7545):E3-5. doi: 10.1038/nature14039.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉1] Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany [2] Department of Genomics, Life &Brain Center, University of Bonn, 53127 Bonn, Germany. ; German Center for Neurodegenerative Diseases (DZNE), 53175 Bonn, Germany. ; 1] Memory Unit, Neurology Department and Sant Pau Biomedical Research Institute, Hospital Santa Creu i Sant Pau, Autonomous University Barcelona, 08025 Barcelona, Spain [2] Center for Networking Biomedical Research in Neurodegenerative Diseases (CIBERNED), 28029 Madrid, Spain. ; Memory Clinic of Fundacio ACE, Catalan Institute of Applied Neurosciences, 08028 Barcelona, Spain. ; Department of Psychiatry and Psychotherapy, University of Bonn, 53127 Bonn, Germany. ; Department of Psychiatry and Psychotherapy, University Clinic Erlangen, Friedrich-Alexander University Erlangen-Nurnberg, 91054 Erlangen, Germany. ; Department of Psychiatry, Charite University Medicine, 14050 Berlin, Germany. ; Department of Geriatric Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, University of Heidelberg, 68159 Mannheim, Germany. ; Centre for Geriatric Medicine and Section of Gerontopsychiatry and Neuropsychology, Medical School, University of Freiburg, 79106 Freiburg, Germany. ; 1] German Center for Neurodegenerative Diseases (DZNE), 53175 Bonn, Germany [2] Clinical Neuroscience Unit, Department of Neurology, University of Bonn, 53127 Bonn, Germany. ; Department of Psychiatry and Psychotherapy, University of Gottingen, 37075 Gottingen, Germany. ; Institute of Social Medicine, Occupational Health and Public Health, University of Leipzig, 04103 Leipzig, Germany. ; Department of Primary Medical Care, University Medical Centre Hamburg-Eppendorf, 20246 Hamburg, Germany. ; 1] German Center for Neurodegenerative Diseases (DZNE), 53175 Bonn, Germany [2] Department of Psychiatry and Psychotherapy, University of Bonn, 53127 Bonn, Germany [3] Department of Psychiatry and Psychotherapy, University of Cologne, 50937 Cologne, Germany. ; 1] German Center for Neurodegenerative Diseases (DZNE), 53175 Bonn, Germany [2] Institute for Medical Biometry, Informatics and Epidemiology, University of Bonn, 53127 Bonn, Germany. ; 1] German Center for Neurodegenerative Diseases (DZNE), 53175 Bonn, Germany [2] Department of Psychiatry and Psychotherapy, University of Bonn, 53127 Bonn, Germany. ; 1] Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany [2] Department of Psychiatry and Psychotherapy, University of Bonn, 53127 Bonn, Germany.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/25832411" target="_blank"〉PubMed〈/a〉
    Keywords: Alzheimer Disease/*genetics ; Female ; Genetic Predisposition to Disease/*genetics ; Genetic Variation/*genetics ; Humans ; Male ; Phospholipase D/*genetics
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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