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Article ; Online: Effects of Repeated Freeze and Thaw Cycles on the Genome-Wide DNA Methylation Profile of Isolated Genomic DNA.

Kopfnagel, Verena / Klopp, Norman / Bernemann, Inga / Nizhegorodtseva, Nataliia / Wilson, Rory / Gronauer, Raphael / Seifert, Martin / Illig, Thomas

Biopreservation and biobanking

2023 Volume 22, Issue 2, Page(s) 110–114

Abstract: The characterization of DNA methylation patterns to identify epigenetic markers for complex human diseases is an important and rapidly evolving part in biomedical research. DNA samples collected and stored in clinical biobanks over the past years are an ... ...

Abstract	The characterization of DNA methylation patterns to identify epigenetic markers for complex human diseases is an important and rapidly evolving part in biomedical research. DNA samples collected and stored in clinical biobanks over the past years are an important source for future epigenetic studies. Isolated gDNA is considered stable when stored at low temperatures for several years. However, the effect of multiple use and the associated repeated thawing of long-term stored DNA samples on DNA methylation patterns has not yet been investigated. In this study, we examined the influence of up to 10 freeze and thaw cycles on global DNA methylation by comparing genome-wide methylation profiles. DNA samples from 19 healthy volunteers were either frozen at -80°C or subjected to up to 10 freeze and thaw cycles. Genome-wide DNA methylation was analyzed after 0, 1, 3, 5, or 10 thaw cycles using the Illumina Infinium MethylationEPIC BeadChip. Evaluation of the global DNA methylation profile by beta-value density plots and multidimensional scaling plots revealed an expected clear participant-dependent variability, but a very low variability depending on the freeze and thaw cycles. In accordance, no significant difference in any of the methylated cytosine/guanine sites studied could be detected in the performed statistical analyses. Our results suggest that long-term frozen DNA samples are still suitable for epigenetic studies after multiple thaw cycles.
MeSH term(s)	Humans ; DNA Methylation ; Freezing ; DNA/genetics ; Healthy Volunteers ; Genomics
Chemical Substances	DNA (9007-49-2)
Language	English
Publishing date	2023-04-18
Publishing country	United States
Document type	Journal Article
ZDB-ID	2593993-2
ISSN	1947-5543 ; 1947-5535
ISSN (online)	1947-5543
ISSN	1947-5535
DOI	10.1089/bio.2022.0045
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: The Changing Epidemiology of Viral Hepatitis in a Post-Soviet Country-The Case of Kyrgyzstan.

Akmatov, Manas K / Beisheeva, Nurgul J / Nurmatov, Asylbek Z / Gulsunai, Sattarova J / Saikal, Kylychbekova N / Derkenbaeva, Aisuluu A / Abdrahmanova, Zamira O / Prokein, Jana / Klopp, Norman / Illig, Thomas / Kasymov, Omor T / Nurmatov, Zuridin S / Pessler, Frank

Pathogens (Basel, Switzerland)

2023 Volume 12, Issue 8

Abstract: Historically, viral hepatitis has been a considerable public health problem in Central Asian countries, which may have worsened after the dissolution of the Soviet Union. However, up-to-date seroepidemiological studies are lacking. The aim of the present ...

Abstract	Historically, viral hepatitis has been a considerable public health problem in Central Asian countries, which may have worsened after the dissolution of the Soviet Union. However, up-to-date seroepidemiological studies are lacking. The aim of the present study was, therefore, to provide current estimates of the seroprevalence of viral hepatitis in Kyrgyzstan, one of the economically least developed countries in the region. We conducted a population-based cross-sectional study in 2018 in the capital of Kyrgyzstan, Bishkek (
Language	English
Publishing date	2023-07-28
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2695572-6
ISSN	2076-0817
ISSN	2076-0817
DOI	10.3390/pathogens12080989
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Book ; Online ; Thesis: Ursachen erblicher Katarakte

Klopp, Norman

Charakterisierung von Mutationen in den g-Kristallin-Genen bei Mensch und Maus

2000

Author's details	Norman Klopp
Language	German
Size	Online-Ressource
Edition	[Elektronische Ressource]
Document type	Book ; Online ; Thesis
Thesis / German Habilitation thesis	Techn. Univ., Diss--München, 2000
Database	Former special subject collection: coastal and deep sea fishing

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Article ; Online: Zentralisierte Biobanken als Grundlage für die medizinische Forschung.

Bernemann, Inga / Kersting, Markus / Prokein, Jana / Hummel, Michael / Klopp, Norman / Illig, Thomas

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz

2016 Volume 59, Issue 3, Page(s) 336–343

Abstract: Biobanks are the basis for a substantial part of biomedical research. The development, establishment and operation of biobanks are connected to a broad range of aspects, mainly concerning the preparation, storage, usage and dissemination of samples and ... ...

Title translation	Centralized biobanks: a basis for medical research.
Abstract	Biobanks are the basis for a substantial part of biomedical research. The development, establishment and operation of biobanks are connected to a broad range of aspects, mainly concerning the preparation, storage, usage and dissemination of samples and associated data, in addition to the social and public involvement of these processes. These complex requirements can often only be managed in large centralized biobanks. In recent years, centralized clinical biobanks have been established in several university clinics in Germany. Similar activities take place in other European countries and worldwide. This article highlights the requirements and main tasks of centralized clinical biobanks: high-quality pre-analytics and sample storage, the creation of professional IT structures, data protection, ethical issues, in addition to quality and project management.
MeSH term(s)	Biological Specimen Banks/organization & administration ; Biomedical Research/organization & administration ; Germany ; Humans ; Interinstitutional Relations ; Internationality ; Models, Organizational ; Quality Assurance, Health Care/organization & administration ; Systems Integration ; Tissue Donors ; Tissue and Organ Procurement/organization & administration
Language	German
Publishing date	2016-03
Publishing country	Germany
Document type	Journal Article
ZDB-ID	1461973-8
ISSN	1437-1588 ; 1436-9990
ISSN (online)	1437-1588
ISSN	1436-9990
DOI	10.1007/s00103-015-2295-2
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Plasma Metabolome Signature Indicative of

Penkert, Judith / Märtens, Andre / Seifert, Martin / Auber, Bernd / Derlin, Katja / Hille-Betz, Ursula / Hörmann, Philipp / Klopp, Norman / Prokein, Jana / Schlicker, Lisa / Wacker, Frank / Wallaschek, Hannah / Schlegelberger, Brigitte / Hiller, Karsten / Ripperger, Tim / Illig, Thomas

Frontiers in oncology

2021 Volume 11, Page(s) 627217

Abstract: Individuals carrying a pathogenic germline variant in the breast cancer predisposition ... ...

Abstract	Individuals carrying a pathogenic germline variant in the breast cancer predisposition gene
Language	English
Publishing date	2021-04-07
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2649216-7
ISSN	2234-943X
ISSN	2234-943X
DOI	10.3389/fonc.2021.627217
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Quality Assessment of the Preanalytical Workflow in Liquid Biobanking: Taurine as a Serum-Specific Quality Indicator for Preanalytical Process Variations.

Schwarz, Nicolle / Knutti, Nadine / Rose, Michael / Neugebauer, Sophie / Geiger, Jörg / Jahns, Roland / Klopp, Norman / Illig, Thomas / Mathay, Conny / Betsou, Fay / Scherag, André / Kiehntopf, Michael

Biopreservation and biobanking

2019 Volume 17, Issue 5, Page(s) 458–467

Abstract: The scientific impact of translational biomedical research largely depends on the availability of high-quality biomaterials. However, evidence-based and robust quality indicators (QIs) covering the most relevant preanalytical variations are still lacking. ...

Abstract	The scientific impact of translational biomedical research largely depends on the availability of high-quality biomaterials. However, evidence-based and robust quality indicators (QIs) covering the most relevant preanalytical variations are still lacking. The aim of this study was to identify and validate a QI suitable for assessing time-to-centrifugation (TTC) delays in human liquid biospecimens originating from both healthy and diseased individuals. Serum and plasma samples with varying TTCs were analyzed by liquid chromatography coupled to tandem mass spectrometry (LC-MS/MS) in a pilot cohort of healthy individuals to identify a suitable QI candidate. Taurine (TAU), as a TTC QI candidate, was validated in healthy individuals and patients with rheumatologic and cardiologic diseases, considering the (1) preanalytical handling temperature, (2) platelet count, and (3) postcentrifugation delay. For discrimination of high TTC (TTC >60 minutes) from low TTC serum specimens, a probability calculation tool was developed (Triple-T-cutoff-model). TTC-dependent changes in healthy individuals were observed for amino acids, particularly TAU. Validation of the TAU levels in an independent cohort of healthy individuals revealed a time-dependent increase in serum, but not in plasma, for a TTC delay of 30-240 minutes. TAU increases were dependent on the handling temperature and platelet count and volume. By contrast, no changes in TAU concentrations were observed for additional postcentrifugation delays. Validation of TAU and the Triple-T-cutoff-model, in rheumatologic/cardiologic patient collectives, allowed the discrimination of samples with TTC ≤60 min/>60 min with estimated AUROC (area under the receiver operating characteristic curve) values of 89% [78%-100%]/86% [71%-100%] and 91% [79%-100%]/84% [68%-100%], respectively. Considering the preanalytical handling temperature and platelet count and volume, TAU and the Triple-T-cutoff-model represent reliable QIs for TTC >60 minutes in serum samples from healthy individuals and selected rheumatologic/cardiologic patients. However, further studies in larger patient collectives with various diseases are needed to assess the robustness and potential of the QIs presented in this article as biobanking quality assurance/quality control tools to support high-quality biomedical research.
MeSH term(s)	Adult ; Blood Banks/standards ; Blood Specimen Collection/methods ; Case-Control Studies ; Chromatography, Liquid ; Evidence-Based Medicine ; Female ; Heart Diseases/blood ; Humans ; Male ; Middle Aged ; Pilot Projects ; Rheumatic Diseases/blood ; Rheumatic Diseases/metabolism ; Serum/chemistry ; Tandem Mass Spectrometry ; Taurine/blood ; Workflow
Chemical Substances	Taurine (1EQV5MLY3D)
Language	English
Publishing date	2019-07-24
Publishing country	United States
Document type	Journal Article
ZDB-ID	2593993-2
ISSN	1947-5543 ; 1947-5535
ISSN (online)	1947-5543
ISSN	1947-5535
DOI	10.1089/bio.2019.0004
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: A novel GJA8 mutation causing a recessive triangular cataract.

Schmidt, Werner / Klopp, Norman / Illig, Thomas / Graw, Jochen

Molecular vision

2008 Volume 14, Page(s) 851–856

Abstract: Purpose: The aim of the study was to characterize the underlying mutation in a consanguineous family having cataracts.: Methods: Family D having congenital cataracts was treated at the University Eye Clinics at Giessen (Germany). Lens material from ... ...

Abstract	Purpose: The aim of the study was to characterize the underlying mutation in a consanguineous family having cataracts. Methods: Family D having congenital cataracts was treated at the University Eye Clinics at Giessen (Germany). Lens material from surgeries was collected, immediately frozen at -80 degrees C, and used for cDNA production. Blood was taken from the proband and available family members. Polymerase chain reaction (PCR)-amplified DNA fragments were characterized by sequencing and restriction digestion. Results: The proband, AD, has a dense, triangular nuclear cataract. The parents are consanguineous, and the mother and grandmother suffer from a discrete, symmetric opacity of the fetal lens nucleus. The proband's lens cDNA showed a homozygous insertion of one G after position 776 of the GJA8 gene, leading to a frame shift and 123 novel amino acids. The homozygous mutation was confirmed in the genomic DNA and is also present in the cataract-operated brother of the proband; all other family members investigated were heterozygous. The mutation could not be detected in 96 healthy controls from Germany. Conclusions: The ins776G mutation most likely causes a recessive triangular cataract with variable expressivity of a weak phenotype in heterozygotes.
MeSH term(s)	Base Sequence ; Cataract/genetics ; Connexins/genetics ; DNA Mutational Analysis ; Eye Proteins/genetics ; Female ; Genes, Recessive ; Humans ; Infant, Newborn ; Male ; Molecular Sequence Data ; Mutation/genetics ; Pedigree
Chemical Substances	Connexins ; Eye Proteins ; connexin 50
Language	English
Publishing date	2008-05-09
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	2017540-1
ISSN	1090-0535 ; 1090-0535
ISSN (online)	1090-0535
ISSN	1090-0535
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Book ; Online ; Thesis: Ursachen erblicher Katarakte

Klopp, Norman [Verfasser]

Charakterisierung von Mutationen in den γ-Kristallin-Genen bei Mensch und Maus

2000

Author's details	Norman Klopp
Keywords	Medizin, Gesundheit ; Medicine, Health
Subject code	sg610
Document type	Book ; Online ; Thesis
Database	Digital theses on the web

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Article ; Online: DNA repair gene polymorphisms and risk of chronic atrophic gastritis

Raum Elke / Illig Thomas / Klopp Norman / Weck Melanie / Müller Heiko / Frank Bernd / Brenner Hermann

BMC Cancer, Vol 11, Iss 1, p

a case-control study

2011 Volume 440

Abstract: Abstract Background Recent studies have reported associations of DNA repair pathway gene variants and risk of various cancers and precancerous lesions, such as chronic atrophic gastritis (CAG). Methods A nested case-control study within the German ... ...

Abstract	Abstract Background Recent studies have reported associations of DNA repair pathway gene variants and risk of various cancers and precancerous lesions, such as chronic atrophic gastritis (CAG). Methods A nested case-control study within the German population-based ESTHER cohort was conducted, including 533 CAG cases and 1054 controls. Polymorphisms in eleven DNA repair genes ( APEX1 , ERCC1 , ERCC2/XPD , PARP1 and XRCC1 ), in CD3EAP/ASE-1 and PPP1R13L were analysed. Results No association was disclosed for any of the analysed polymorphisms. Nor did stratified analyses according to ages < 65 and ≥ 65 years show any significant association with CAG risk. Conclusions The results of this large German case-control study do not reveal associations of DNA repair pathway polymorphisms and risk of CAG. On the basis of a large number of CAG cases, they do not support associations of DNA repair pathway SNPs with CAG risk, but suggest the need of larger studies to disclose or exclude potential weak associations, or of studies with full coverage of candidate genes.
Keywords	Neoplasms. Tumors. Oncology. Including cancer and carcinogens ; RC254-282 ; Internal medicine ; RC31-1245 ; Medicine ; R ; DOAJ:Oncology ; DOAJ:Medicine (General) ; DOAJ:Health Sciences
Subject code	616
Language	English
Publishing date	2011-10-01T00:00:00Z
Publisher	BioMed Central
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Comparative Magnitude and Persistence of Humoral SARS-CoV-2 Vaccination Responses in the Adult Population in Germany.

Dulovic, Alex / Kessel, Barbora / Harries, Manuela / Becker, Matthias / Ortmann, Julia / Griesbaum, Johanna / Jüngling, Jennifer / Junker, Daniel / Hernandez, Pilar / Gornyk, Daniela / Glöckner, Stephan / Melhorn, Vanessa / Castell, Stefanie / Heise, Jana-Kristin / Kemmling, Yvonne / Tonn, Torsten / Frank, Kerstin / Illig, Thomas / Klopp, Norman /

Warikoo, Neha / Rath, Angelika / Suckel, Christina / Marzian, Anne Ulrike / Grupe, Nicole / Kaiser, Philipp D / Traenkle, Bjoern / Rothbauer, Ulrich / Kerrinnes, Tobias / Krause, Gérard / Lange, Berit / Schneiderhan-Marra, Nicole / Strengert, Monika

Frontiers in immunology

2022 Volume 13, Page(s) 828053

Abstract: Recent increases in SARS-CoV-2 infections have led to questions about duration and quality of vaccine-induced immune protection. While numerous studies have been published on immune responses triggered by vaccination, these often focus on studying the ... ...

Abstract	Recent increases in SARS-CoV-2 infections have led to questions about duration and quality of vaccine-induced immune protection. While numerous studies have been published on immune responses triggered by vaccination, these often focus on studying the impact of one or two immunisation schemes within subpopulations such as immunocompromised individuals or healthcare workers. To provide information on the duration and quality of vaccine-induced immune responses against SARS-CoV-2, we analyzed antibody titres against various SARS-CoV-2 antigens and ACE2 binding inhibition against SARS-CoV-2 wild-type and variants of concern in samples from a large German population-based seroprevalence study (MuSPAD) who had received all currently available immunisation schemes. We found that homologous mRNA-based or heterologous prime-boost vaccination produced significantly higher antibody responses than vector-based homologous vaccination. Ad26.CoV2S.2 performance was particularly concerning with reduced titres and 91.7% of samples classified as non-responsive for ACE2 binding inhibition, suggesting that recipients require a booster mRNA vaccination. While mRNA vaccination induced a higher ratio of RBD- and S1-targeting antibodies, vector-based vaccines resulted in an increased proportion of S2-targeting antibodies. Given the role of RBD- and S1-specific antibodies in neutralizing SARS-CoV-2, their relative over-representation after mRNA vaccination may explain why these vaccines have increased efficacy compared to vector-based formulations. Previously infected individuals had a robust immune response once vaccinated, regardless of which vaccine they received, which could aid future dose allocation should shortages arise for certain manufacturers. Overall, both titres and ACE2 binding inhibition peaked approximately 28 days post-second vaccination and then decreased.
MeSH term(s)	Ad26COVS1/immunology ; Antibodies, Neutralizing/immunology ; Antibodies, Viral/immunology ; Antibody Formation/immunology ; COVID-19/immunology ; Cross-Sectional Studies ; Germany ; Humans ; Immunity, Humoral/immunology ; SARS-CoV-2/growth & development ; Seroepidemiologic Studies ; Spike Glycoprotein, Coronavirus/immunology ; Vaccination/methods
Chemical Substances	Ad26COVS1 (JT2NS6183B) ; Antibodies, Neutralizing ; Antibodies, Viral ; Spike Glycoprotein, Coronavirus ; spike protein, SARS-CoV-2
Language	English
Publishing date	2022-02-16
Publishing country	Switzerland
Document type	Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
ZDB-ID	2606827-8
ISSN	1664-3224 ; 1664-3224
ISSN (online)	1664-3224
ISSN	1664-3224
DOI	10.3389/fimmu.2022.828053
Database	MEDical Literature Analysis and Retrieval System OnLINE

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