Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    Keywords: Life sciences ; Proteins ; Life sciences ; Protein Science ; Springer eBooks
    Description / Table of Contents: Preparation of Pure Populations of Amyloid-β Protein Oligomers of Defined Size -- Preparation of Well-Defined and Stable β-Barrel Pore-Forming Amyloid-β42 Oligomers -- Unveiling Brain Aß Heterogeneity through Targeted Proteomic Analysis -- Preparation of α-Synuclein Amyloid Assemblies for Toxicity Experiments -- Generation and Characterization of Stable α-Synuclein Oligomers -- In Vitro Analysis of α-Synuclein Amyloid Formation and Cross-Reactivity -- Preparation of Tau Oligomers after Protein Extraction from Bacteria and Brain Cortices -- Purification and Characterization of Low-n Tau Oligomers -- Preparation and Characterization of Tau Oligomer Strains -- Purification and Fibrillation of Recombinant Human Amyloid-β, Prion Protein and Tau under Native Conditions -- Preparation of Amyloidogenic Aggregates from EF-Hand β –parvalbumin and S100 Proteins -- Kinetic Analysis of Amyloid Formation -- Mapping Amyloid Regions in Gad m 1 with Peptide Arrays -- Non-Invasive Structural Analysis of Intermediate Species during Fibrillation: An Application of Small-Angle X-Ray Scattering -- Analysis of Covalent Modifications of Amyloidogenic Proteins using Two-Dimensional Electrophoresis: Prion Protein and Its Sialylation -- Amplification and Detection of Minuscule Amounts of Misfolded Prion Protein by Using The Real-Time Quaking-Induced-Conversion -- Bacterial Amyloids -- Addressing Intracellular Amyloidosis in Bacteria with RepA-WH1, a Prion-Like Protein -- Study of Amyloids Using Yeast -- Neurotoxic Ca2+ Signaling Induced by Amyloid-β Oligomers in Aged Hippocampal Neurons In Vitro -- Preparation and Culturing of Human Primary Vascular Cells -- Live Imaging of Pathological Tau Protein and Tau Antibodies in a Human Neuron-Like Cellular Model -- Effects of Amyloid-β Peptide on the Biology of Human Neural Stem Cells -- Development of Mouse Monoclonal Antibodies against Human Amyloid Fibril Proteins for Diagnostic and Research Purposes -- Identification and Characterization of Amyloid-β Accumulation in Synaptic Mitochondria -- Biochemical Properties of Pathology-Related Tau Species in Tauopathy Brains: An Extraction Protocol for Tau Oligomers and Aggregates -- Tau Assembly into Filaments -- Quantitative Metabolomics in Alzheimer´s Disease: Technical Considerations for Improved Reproducibility -- Detecting Circulating MicroRNAs as Biomarkers in Alzheimer’s Disease -- Luminescent Conjugated Oligothiophene Probe Applications for Fluorescence Imaging of Pure Amyloid Fibrils and Protein Aggregates in Tissues -- Characterization of Amyloid-β Plaques and Autofluorescent Lipofuscin Aggregates in Alzheimer´s Disease Brain: A Confocal Microscopy Approach -- In Vivo Imaging of Tauopathy in Mice -- In Vivo Evaluation of Neuronal Transport in Murine Models of Neurodegeneration using Manganese-Enhanced MRI
    Abstract: This third edition volume expands on the previous editions with many new chapters that cover the latest techniques and topics that were not addressed in the previous volumes. The chapters in this book are divided into three parts: Part One covers in vitro assays that focus on a variety of amyloids and how to study these peptides and proteins. Part Two describes cell culture models and assays, and Part Three explores methods on how to extract amyloid from tissue, its detection, and its characterization in vitro or in vivo. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Cutting-edge and authoritative, Amyloid Proteins: Methods and Protocols, Third Edition is a valuable resource for both students and scientists who are new to the field, as well as experienced researchers who would like to progress their research with the latest available techniques
    Pages: XVII, 547 p. 99 illus., 65 illus. in color. : online resource.
    Edition: 3rd ed. 2018.
    ISBN: 9781493978168
    Signatur Availability
    BibTip Others were also interested in ...
  • 2
    Keywords: p53 ; MUTATIONS ; EUROPEANS ; PIGMENTATION ; BASAL-CELL CARCINOMA ; GENETIC-DETERMINANTS ; COMMON VARIANTS ; SEQUENCE VARIANTS ; LI-FRAUMENI SYNDROME ; ASSOCIATE
    Abstract: To identify new risk variants for cutaneous basal cell carcinoma, we performed a genome-wide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. We imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from rs78378222[C] (odds ratio (OR) = 2.36, P = 5.2 x 10(-17)), which has a frequency of 0.0192 in the Icelandic population. We then confirmed this association in non-Icelandic samples (OR = 1.75, P = 0.0060; overall OR = 2.16, P = 2.2 x 10(-20)). rs78378222 is in the 3' untranslated region of TP53 and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3'-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (OR = 1.44, P = 2.4 x 10(-6)), glioma (OR = 2.35, P = 1.0 x 10(-5)) and colorectal adenoma (OR = 1.39, P = 1.6 x 10(-4)). However, we observed no effect for breast cancer, a common Li-Fraumeni syndrome tumor (OR = 1.06, P = 0.57, 95% confidence interval 0.88-1.27).
    Type of Publication: Journal article published
    PubMed ID: 21946351
    Signatur Availability
    BibTip Others were also interested in ...
  • 3
    Keywords: RECEPTOR ; CANCER ; POPULATION ; RISK ; SITE ; DISTINCT ; GENE ; GENES ; GENOME ; RESOLUTION ; BINDING ; SEQUENCE ; ASSOCIATION ; SUSCEPTIBILITY ; SUSCEPTIBILITY LOCUS ; ALPHA ; BREAST ; breast cancer ; BREAST-CANCER ; genetics ; SNP ; POPULATIONS ; PROJECT ; ESTROGEN-RECEPTOR ; HETEROGENEITY ; ORIGIN ; TAMOXIFEN ; ASSOCIATIONS ; SNPs ; SCIENCE ; ESTROGEN ; HAPLOTYPE ; LOCUS ; TRAITS ; estrogen receptor ; BINDING-SITE ; CHINESE POPULATION ; GENOME-WIDE ASSOCIATION ; AFRICAN-AMERICAN ; ESTROGEN-RECEPTOR-ALPHA ; CONFER SUSCEPTIBILITY ; BINDING SITE ; Genetic ; COMMON VARIANTS ; ANCESTRY ; PANEL ; CAUSAL VARIANTS
    Abstract: We used an approach that we term ancestry-shift refinement mapping to investigate an association, originally discovered in a GWAS of a Chinese population, between rs2046210[T] and breast cancer susceptibility. The locus is on 6q25.1 in proximity to the C6orf97 and estrogen receptor alpha (ESR1) genes. We identified a panel of SNPs that are correlated with rs2046210 in Chinese, but not necessarily so in other ancestral populations, and genotyped them in breast cancer case: control samples of Asian, European, and African origin, a total of 10,176 cases and 13,286 controls. We found that rs2046210[T] does not confer substantial risk of breast cancer in Europeans and Africans (OR = 1.04, P = 0.099, and OR = 0.98, P = 0.77, respectively). Rather, in those ancestries, an association signal arises from a group of less common SNPs typified by rs9397435. The rs9397435[G] allele was found to confer risk of breast cancer in European (OR = 1.15, P = 1.2x10(-3)), African (OR = 1.35, P = 0.014), and Asian (OR = 1.23, P = 2.9x10(-4)) population samples. Combined over all ancestries, the OR was 1.19 (P = 3.9x10(-7)), was without significant heterogeneity between ancestries (P-het = 0.36) and the SNP fully accounted for the association signal in each ancestry. Haplotypes bearing rs9397435[G] are well tagged by rs2046210[ T] only in Asians. The rs9397435[G] allele showed associations with both estrogen receptor positive and estrogen receptor negative breast cancer. Using early-draft data from the 1,000 Genomes project, we found that the risk allele of a novel SNP (rs77275268), which is closely correlated with rs9397435, disrupts a partially methylated CpG sequence within a known CTCF binding site. These studies demonstrate that shifting the analysis among ancestral populations can provide valuable resolution in association mapping
    Type of Publication: Journal article published
    PubMed ID: 20661439
    Signatur Availability
    BibTip Others were also interested in ...
  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Intensive care medicine 11 (1985), S. 263-264 
    ISSN: 1432-1238
    Keywords: Central venous catheterization ; Complications
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A subclavian central venous catheter wandered spontaneously between the superior caval and the internal jugular veins. The case supports the routine of regular X-ray checks for catheter position.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
  • 5
    Publication Date: 2012-08-24
    Description: Mutations generate sequence diversity and provide a substrate for selection. The rate of de novo mutations is therefore of major importance to evolution. Here we conduct a study of genome-wide mutation rates by sequencing the entire genomes of 78 Icelandic parent-offspring trios at high coverage. We show that in our samples, with an average father's age of 29.7, the average de novo mutation rate is 1.20 x 10(-8) per nucleotide per generation. Most notably, the diversity in mutation rate of single nucleotide polymorphisms is dominated by the age of the father at conception of the child. The effect is an increase of about two mutations per year. An exponential model estimates paternal mutations doubling every 16.5 years. After accounting for random Poisson variation, father's age is estimated to explain nearly all of the remaining variation in the de novo mutation counts. These observations shed light on the importance of the father's age on the risk of diseases such as schizophrenia and autism.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548427/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548427/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Kong, Augustine -- Frigge, Michael L -- Masson, Gisli -- Besenbacher, Soren -- Sulem, Patrick -- Magnusson, Gisli -- Gudjonsson, Sigurjon A -- Sigurdsson, Asgeir -- Jonasdottir, Aslaug -- Jonasdottir, Adalbjorg -- Wong, Wendy S W -- Sigurdsson, Gunnar -- Walters, G Bragi -- Steinberg, Stacy -- Helgason, Hannes -- Thorleifsson, Gudmar -- Gudbjartsson, Daniel F -- Helgason, Agnar -- Magnusson, Olafur Th -- Thorsteinsdottir, Unnur -- Stefansson, Kari -- MH071425/MH/NIMH NIH HHS/ -- R01 MH071425/MH/NIMH NIH HHS/ -- England -- Nature. 2012 Aug 23;488(7412):471-5. doi: 10.1038/nature11396.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland. kong@decode.is〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/22914163" target="_blank"〉PubMed〈/a〉
    Keywords: Adult ; Autistic Disorder/epidemiology/etiology/*genetics ; Chromosomes, Human/genetics ; Female ; *Genetic Predisposition to Disease ; Genome, Human/genetics ; Humans ; Iceland/epidemiology ; Male ; Middle Aged ; Mothers ; *Mutation Rate ; Ovum/metabolism ; *Paternal Age ; Pedigree ; Polymorphism, Single Nucleotide/genetics ; Risk Factors ; Schizophrenia/epidemiology/etiology/*genetics ; Selection, Genetic/genetics ; Sequence Analysis, DNA ; Spermatozoa/metabolism ; Young Adult
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Signatur Availability
    BibTip Others were also interested in ...
  • 6
    Publication Date: 2013-05-07
    Description: Low bone mineral density (BMD) is used as a parameter of osteoporosis. Genome-wide association studies of BMD have hitherto focused on BMD as a quantitative trait, yielding common variants of small effects that contribute to the population diversity in BMD. Here we use BMD as a dichotomous trait, searching for variants that may have a direct effect on the risk of pathologically low BMD rather than on the regulation of BMD in the healthy population. Through whole-genome sequencing of Icelandic individuals, we found a rare nonsense mutation within the leucine-rich-repeat-containing G-protein-coupled receptor 4 (LGR4) gene (c.376C〉T) that is strongly associated with low BMD, and with osteoporotic fractures. This mutation leads to termination of LGR4 at position 126 and fully disrupts its function. The c.376C〉T mutation is also associated with electrolyte imbalance, late onset of menarche and reduced testosterone levels, as well as an increased risk of squamous cell carcinoma of the skin and biliary tract cancer. Interestingly, the phenotype of carriers of the c.376C〉T mutation overlaps that of Lgr4 mutant mice.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Styrkarsdottir, Unnur -- Thorleifsson, Gudmar -- Sulem, Patrick -- Gudbjartsson, Daniel F -- Sigurdsson, Asgeir -- Jonasdottir, Aslaug -- Jonasdottir, Adalbjorg -- Oddsson, Asmundur -- Helgason, Agnar -- Magnusson, Olafur T -- Walters, G Bragi -- Frigge, Michael L -- Helgadottir, Hafdis T -- Johannsdottir, Hrefna -- Bergsteinsdottir, Kristin -- Ogmundsdottir, Margret H -- Center, Jacqueline R -- Nguyen, Tuan V -- Eisman, John A -- Christiansen, Claus -- Steingrimsson, Erikur -- Jonasson, Jon G -- Tryggvadottir, Laufey -- Eyjolfsson, Gudmundur I -- Theodors, Asgeir -- Jonsson, Thorvaldur -- Ingvarsson, Thorvaldur -- Olafsson, Isleifur -- Rafnar, Thorunn -- Kong, Augustine -- Sigurdsson, Gunnar -- Masson, Gisli -- Thorsteinsdottir, Unnur -- Stefansson, Kari -- HL-102923/HL/NHLBI NIH HHS/ -- HL-102924/HL/NHLBI NIH HHS/ -- HL-102925/HL/NHLBI NIH HHS/ -- HL-102926/HL/NHLBI NIH HHS/ -- HL-103010/HL/NHLBI NIH HHS/ -- England -- Nature. 2013 May 23;497(7450):517-20. doi: 10.1038/nature12124. Epub 2013 May 5.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉deCODE Genetics/Amgen, 101 Reykjavik, Iceland. unnurth@decode.is〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/23644456" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Australia ; Biliary Tract Neoplasms/*genetics ; Bone Density/*genetics ; Carcinoma, Squamous Cell/*genetics ; Codon, Nonsense/*genetics ; Denmark ; Down-Regulation/genetics ; Female ; Heterozygote ; Humans ; Iceland ; Male ; Menarche/genetics ; Mice ; Mice, Knockout ; Osteoporotic Fractures/*genetics ; Phenotype ; Receptors, G-Protein-Coupled/chemistry/deficiency/*genetics/metabolism ; Skin Neoplasms/*genetics ; Testosterone/analysis ; Water-Electrolyte Imbalance/*genetics
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Signatur Availability
    BibTip Others were also interested in ...
  • 7
    Publication Date: 2018-10-30
    Description: Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO , IL11 , COL11A1 and 13 more new loci associated with osteoarthritis Meta-analysis of Icelandic and UK data sets identifies missense variants in 〈i〉SMO〈/i〉, 〈i〉IL11〈/i〉, 〈i〉COL11A1〈/i〉 and 13 more new loci associated with osteoarthritis, Published online: 29 October 2018; doi:10.1038/s41588-018-0247-0 Genome-wide association meta-analysis of data sets from Iceland and the UK identifies 16 new risk loci for osteoarthritis, including missense variants in SMO, IL11, and COL11A1.
    Print ISSN: 1061-4036
    Electronic ISSN: 1546-1718
    Topics: Biology , Medicine
    Signatur Availability
    BibTip Others were also interested in ...
  • 8
    Keywords: RECEPTOR ; T-CELL ; PROMOTER ; BLOOD-PRESSURE ; protein expression ; GENOME-WIDE ASSOCIATION ; INDEPENDENT PREDICTOR ; ARTERIAL STIFFNESS ; AORTIC STIFFNESS ; HYPERTENSIVE PATIENTS
    Abstract: BACKGROUND: Carotid-femoral pulse wave velocity (CFPWV) is a heritable measure of aortic stiffness that is strongly associated with increased risk for major cardiovascular disease events. METHODS AND RESULTS: We conducted a meta-analysis of genome-wide association data in 9 community-based European ancestry cohorts consisting of 20 634 participants. Results were replicated in 2 additional European ancestry cohorts involving 5306 participants. Based on a preliminary analysis of 6 cohorts, we identified a locus on chromosome 14 in the 3'-BCL11B gene desert that is associated with CFPWV (rs7152623, minor allele frequency=0.42, beta=-0.075+/-0.012 SD/allele, P=2.8x10(-10); replication beta=-0.086+/-0.020 SD/allele, P=1.4x10(-6)). Combined results for rs7152623 from 11 cohorts gave beta=-0.076+/-0.010 SD/allele, P=3.1x10(-15). The association persisted when adjusted for mean arterial pressure (beta=-0.060+/-0.009 SD/allele, P=1.0x10(-11)). Results were consistent in younger (〈55 years, 6 cohorts, n=13 914, beta=-0.081+/-0.014 SD/allele, P=2.3x10(-9)) and older (9 cohorts, n=12 026, beta=-0.061+/-0.014 SD/allele, P=9.4x10(-6)) participants. In separate meta-analyses, the locus was associated with increased risk for coronary artery disease (hazard ratio=1.05; confidence interval=1.02-1.08; P=0.0013) and heart failure (hazard ratio=1.10, CI=1.03-1.16, P=0.004). CONCLUSIONS: Common genetic variation in a locus in the BCL11B gene desert that is thought to harbor 1 or more gene enhancers is associated with higher CFPWV and increased risk for cardiovascular disease. Elucidation of the role this novel locus plays in aortic stiffness may facilitate development of therapeutic interventions that limit aortic stiffening and related cardiovascular disease events.
    Type of Publication: Journal article published
    PubMed ID: 22068335
    Signatur Availability
    BibTip Others were also interested in ...
  • 9
    facet.materialart.
    facet.materialart.
    German Medical Science GMS Publishing House; Düsseldorf
    In:  27. Internationaler Kongress der Deutschen Ophthalmochirurgen; 20140515-20140517; Nürnberg; DOCH 4.4 /20140505/
    Publication Date: 2014-05-06
    Keywords: ddc: 610
    Language: English
    Type: conferenceObject
    Signatur Availability
    BibTip Others were also interested in ...
  • 10
    Keywords: CANCER ; CELL ; LUNG ; LUNG-CANCER ; RISK ; GENE ; PROTEIN ; ASSOCIATION ; SUSCEPTIBILITY LOCUS ; VARIANTS ; BREAST-CANCER ; genetics ; COLORECTAL-CANCER ; PROSTATE-CANCER ; MELANOMA ; VARIANT ; telomere length ; RISK-FACTOR ; BASAL-CELL CARCINOMA ; GENOME-WIDE ASSOCIATION ; SCAN ; COMMON VARIANTS
    Abstract: The common sequence variants that have recently been associated with cancer risk are particular to a single cancer type or at most two. Following up on our genome-wide scan of basal cell carcinoma(1), we found that rs401681[C] on chromosome 5p15.33 satisfied our threshold for genome-wide significance (OR 1.25, P = 3.7 x 10(-12)). We tested rs401681 for association with 16 additional cancer types in over 30,000 cancer cases and 45,000 controls and found association with lung cancer (OR = 1.15, P = 7.2 x 10(-8)) and urinary bladder, prostate and cervix cancer (ORs = 1.07-1.31, all P 〈 4 x 10(-4)). However, rs401681[C] seems to confer protection against cutaneous melanoma (OR = 0.88, P = 8.0 x 10(-4)). Notably, most of these cancer types have a strong environmental component to their risk. Investigation of the region led us to rs2736098[A], which showed stronger association with some cancer types. However, neither variant could fully account for the association of the other. rs2736098 corresponds to A305A in the telomerase reverse transcriptase (TERT) protein and rs401681 is in an intron of the CLPTM1L gene
    Type of Publication: Journal article published
    PubMed ID: 19151717
    Signatur Availability
    BibTip Others were also interested in ...
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...