LIVIVO - Search results -

Search results

Result 1 - 10 of total 308

Search options

Article ; Online: Epigenetic Age Acceleration in Frontotemporal Lobar Degeneration: A Comprehensive Analysis in the Blood and Brain.

Murthy, Megha / Rizzu, Patrizia / Heutink, Peter / Mill, Jonathan / Lashley, Tammaryn / Bettencourt, Conceição

2023 Volume 12, Issue 14

Abstract: Frontotemporal lobar degeneration (FTLD) includes a heterogeneous group of disorders pathologically characterized by the degeneration of the frontal and temporal lobes. In addition to major genetic contributors of FTLD such as mutations ... ...

Abstract	Frontotemporal lobar degeneration (FTLD) includes a heterogeneous group of disorders pathologically characterized by the degeneration of the frontal and temporal lobes. In addition to major genetic contributors of FTLD such as mutations in
MeSH term(s)	Humans ; Frontotemporal Dementia ; Frontotemporal Lobar Degeneration/genetics ; Brain ; Supranuclear Palsy, Progressive/genetics ; Mutation/genetics ; Ubiquitin-Specific Proteases
Chemical Substances	OTUD4 protein, human (EC 3.4.19.12) ; Ubiquitin-Specific Proteases (EC 3.4.19.12)
Language	English
Publishing date	2023-07-24
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2661518-6
ISSN	2073-4409 ; 2073-4409
ISSN (online)	2073-4409
ISSN	2073-4409
DOI	10.3390/cells12141922
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

Article ; Online: Enrichment of the Local Synaptic Translatome for Genetic Risk Associated With Schizophrenia and Autism Spectrum Disorder.

Clifton, Nicholas E / Lin, Julie Qiaojin / Holt, Christine E / O'Donovan, Michael C / Mill, Jonathan

Biological psychiatry

2023 Volume 95, Issue 9, Page(s) 888–895

Abstract: Background: Genes that encode synaptic proteins or messenger RNA targets of the RNA-binding protein FMRP (fragile X messenger ribonucleoprotein) have been linked to schizophrenia and autism spectrum disorder (ASD) through the enrichment of genetic ... ...

Abstract	Background: Genes that encode synaptic proteins or messenger RNA targets of the RNA-binding protein FMRP (fragile X messenger ribonucleoprotein) have been linked to schizophrenia and autism spectrum disorder (ASD) through the enrichment of genetic variants that confer risk for these disorders. FMRP binds many transcripts with synaptic functions and is thought to regulate their local translation, a process that enables rapid and compartmentalized protein synthesis required for development and plasticity. Methods: We used summary statistics from large-scale genome-wide association studies of schizophrenia (74,776 cases, 101,023 controls) and ASD (18,381 cases, 27,969 controls) to test the hypothesis that the subset of synaptic genes that encode localized transcripts is more strongly associated with each disorder than nonlocalized transcripts. We also postulated that this subset of synaptic genes is responsible for associations attributed to FMRP targets. Results: Schizophrenia associations were enriched in genes encoding localized synaptic transcripts compared to the remaining synaptic genes or to the remaining localized transcripts; this also applied to ASD associations, although only for transcripts observed after stimulation by fear conditioning. The genetic associations with either disorder captured by these gene sets were independent of those derived from FMRP targets. Schizophrenia association was related to FMRP interactions with messenger RNAs in somata, but not in dendrites, while ASD association was related to FMRP binding in either compartment. Conclusions: Our data suggest that synaptic transcripts capable of local translation are particularly relevant to the pathogenesis of schizophrenia and ASD, but they do not characterize the associations attributed to current sets of FMRP targets.
MeSH term(s)	Humans ; Autism Spectrum Disorder/genetics ; Autism Spectrum Disorder/metabolism ; Genome-Wide Association Study ; Schizophrenia/genetics ; Schizophrenia/metabolism ; Fragile X Mental Retardation Protein/genetics ; Fragile X Mental Retardation Protein/metabolism ; Neurons/metabolism
Chemical Substances	Fragile X Mental Retardation Protein (139135-51-6)
Language	English
Publishing date	2023-12-14
Publishing country	United States
Document type	Journal Article
ZDB-ID	209434-4
ISSN	1873-2402 ; 0006-3223
ISSN (online)	1873-2402
ISSN	0006-3223
DOI	10.1016/j.biopsych.2023.12.006
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 720: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Accelerated Pace of Aging in Schizophrenia: Five Case-Control Studies.

Caspi, Avshalom / Shireby, Gemma / Mill, Jonathan / Moffitt, Terrie E / Sugden, Karen / Hannon, Eilis

Biological psychiatry

2023

Abstract: Background: Schizophrenia is associated with increased risk of developing multiple aging-related diseases, including metabolic, respiratory, and cardiovascular diseases, and Alzheimer's and related dementias, leading to the hypothesis that schizophrenia ...

Abstract	Background: Schizophrenia is associated with increased risk of developing multiple aging-related diseases, including metabolic, respiratory, and cardiovascular diseases, and Alzheimer's and related dementias, leading to the hypothesis that schizophrenia is accompanied by accelerated biological aging. This has been difficult to test because there is no widely accepted measure of biological aging. Epigenetic clocks are promising algorithms that are used to calculate biological age on the basis of information from combined cytosine-phosphate-guanine sites (CpGs) across the genome, but they have yielded inconsistent and often negative results about the association between schizophrenia and accelerated aging. Here, we tested the schizophrenia-aging hypothesis using a DNA methylation measure that is uniquely designed to predict an individual's rate of aging. Methods: We brought together 5 case-control datasets to calculate DunedinPACE (Pace of Aging Calculated from the Epigenome), a new measure trained on longitudinal data to detect differences between people in their pace of aging over time. Data were available from 1812 psychosis cases (schizophrenia or first-episode psychosis) and 1753 controls. Mean chronological age was 38.9 (SD = 13.6) years. Results: We observed consistent associations across datasets between schizophrenia and accelerated aging as measured by DunedinPACE. These associations were not attributable to tobacco smoking or clozapine medication. Conclusions: Schizophrenia is accompanied by accelerated biological aging by midlife. This may explain the wide-ranging risk among people with schizophrenia for developing multiple different age-related physical diseases, including metabolic, respiratory, and cardiovascular diseases, and dementia. Measures of biological aging could prove valuable for assessing patients' risk for physical and cognitive decline and for evaluating intervention effectiveness.
Language	English
Publishing date	2023-11-02
Publishing country	United States
Document type	Journal Article
ZDB-ID	209434-4
ISSN	1873-2402 ; 0006-3223
ISSN (online)	1873-2402
ISSN	0006-3223
DOI	10.1016/j.biopsych.2023.10.023
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 720: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Quantifying the proportion of different cell types in the human cortex using DNA methylation profiles.

Hannon, Eilis / Dempster, Emma L / Davies, Jonathan P / Chioza, Barry / Blake, Georgina E T / Burrage, Joe / Policicchio, Stefania / Franklin, Alice / Walker, Emma M / Bamford, Rosemary A / Schalkwyk, Leonard C / Mill, Jonathan

BMC biology

2024 Volume 22, Issue 1, Page(s) 17

Abstract: Background: Due to interindividual variation in the cellular composition of the human cortex, it is essential that covariates that capture these differences are included in epigenome-wide association studies using bulk tissue. As experimentally derived ... ...

Abstract	Background: Due to interindividual variation in the cellular composition of the human cortex, it is essential that covariates that capture these differences are included in epigenome-wide association studies using bulk tissue. As experimentally derived cell counts are often unavailable, computational solutions have been adopted to estimate the proportion of different cell types using DNA methylation data. Here, we validate and profile the use of an expanded reference DNA methylation dataset incorporating two neuronal and three glial cell subtypes for quantifying the cellular composition of the human cortex. Results: We tested eight reference panels containing different combinations of neuronal- and glial cell types and characterised their performance in deconvoluting cell proportions from computationally reconstructed or empirically derived human cortex DNA methylation data. Our analyses demonstrate that while these novel brain deconvolution models produce accurate estimates of cellular proportions from profiles generated on postnatal human cortex samples, they are not appropriate for the use in prenatal cortex or cerebellum tissue samples. Applying our models to an extensive collection of empirical datasets, we show that glial cells are twice as abundant as neuronal cells in the human cortex and identify significant associations between increased Alzheimer's disease neuropathology and the proportion of specific cell types including a decrease in NeuNNeg/SOX10Neg nuclei and an increase of NeuNNeg/SOX10Pos nuclei. Conclusions: Our novel deconvolution models produce accurate estimates for cell proportions in the human cortex. These models are available as a resource to the community enabling the control of cellular heterogeneity in epigenetic studies of brain disorders performed on bulk cortex tissue.
MeSH term(s)	Female ; Pregnancy ; Infant, Newborn ; Humans ; DNA Methylation ; Epigenesis, Genetic ; Neuroglia ; Cerebral Cortex ; Neurons/metabolism
Language	English
Publishing date	2024-01-25
Publishing country	England
Document type	Journal Article
ZDB-ID	2133020-7
ISSN	1741-7007 ; 1741-7007
ISSN (online)	1741-7007
ISSN	1741-7007
DOI	10.1186/s12915-024-01827-y
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: The molecular etiology of Alzheimer's disease.

Smith, Adam R / Mill, Jonathan / Lunnon, Katie

Brain pathology (Zurich, Switzerland)

2020 Volume 30, Issue 5, Page(s) 964–965

Abstract: Alzheimer's disease (AD) is a growing global healthcare epidemic. Owing to advances in technology, genome-scale studies of various layers of molecular information have been undertaken in recent years and robust variation in key loci have now been ... ...

Abstract	Alzheimer's disease (AD) is a growing global healthcare epidemic. Owing to advances in technology, genome-scale studies of various layers of molecular information have been undertaken in recent years and robust variation in key loci have now been published and reproduced by others. This mini-symposium highlights four key areas of current research in the field of molecular biology in AD, including articles focused on large-scale genomic profiling, epigenetic research, integrative multi-omic approaches and how these can be appropriately modeled to address reverse causality. This mini-symposium provides a timely update on research focused on elucidating the molecular etiology of AD to date and highlights new methodological advances that could enable neuroscientists to identify novel therapeutic targets.
MeSH term(s)	Alzheimer Disease/etiology ; Alzheimer Disease/genetics ; Alzheimer Disease/metabolism ; Genetic Predisposition to Disease/genetics ; Genome-Wide Association Study/methods ; Genomics/methods ; Humans
Language	English
Publishing date	2020-08-04
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	1051484-3
ISSN	1750-3639 ; 1015-6305
ISSN (online)	1750-3639
ISSN	1015-6305
DOI	10.1111/bpa.12879
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 3585: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: An overview of DNA methylation-derived trait score methods and applications.

Nabais, Marta F / Gadd, Danni A / Hannon, Eilis / Mill, Jonathan / McRae, Allan F / Wray, Naomi R

Genome biology

2023 Volume 24, Issue 1, Page(s) 28

Abstract: Microarray technology has been used to measure genome-wide DNA methylation in thousands of individuals. These studies typically test the associations between individual DNA methylation sites ("probes") and complex traits or diseases. The results can be ... ...

Abstract	Microarray technology has been used to measure genome-wide DNA methylation in thousands of individuals. These studies typically test the associations between individual DNA methylation sites ("probes") and complex traits or diseases. The results can be used to generate methylation profile scores (MPS) to predict outcomes in independent data sets. Although there are many parallels between MPS and polygenic (risk) scores (PGS), there are key differences. Here, we review motivations, methods, and applications of DNA methylation-based trait prediction, with a focus on common diseases. We contrast MPS with PGS, highlighting where assumptions made in genetic modeling may not hold in epigenetic data.
MeSH term(s)	Humans ; DNA Methylation ; Quantitative Trait Loci ; Phenotype ; Multifactorial Inheritance ; Risk Factors ; DNA ; Genome-Wide Association Study/methods
Chemical Substances	DNA (9007-49-2)
Language	English
Publishing date	2023-02-16
Publishing country	England
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't
ZDB-ID	2040529-7
ISSN	1474-760X ; 1474-760X
ISSN (online)	1474-760X
ISSN	1474-760X
DOI	10.1186/s13059-023-02855-7
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Toward an integrated genetic and epigenetic approach to Alzheimer's disease.

Mill, Jonathan

Neurobiology of aging

2011 Volume 32, Issue 7, Page(s) 1188–1191

Abstract: Epigenetics is the study of mitotically heritable, but reversible, changes in gene expression brought about principally through alterations in DNA methylation and chromatin structure. The comprehensive review by Mastroeni et al. (Mastroeni, D., Grover, A. ...

Abstract	Epigenetics is the study of mitotically heritable, but reversible, changes in gene expression brought about principally through alterations in DNA methylation and chromatin structure. The comprehensive review by Mastroeni et al. (Mastroeni, D., Grover, A., Delvaux, E., Whiteside, C., Coleman, P., Rogers, J., 2010. Epigenetic mechanisms in Alzheimer's disease. Neurobiol. Aging, doi:10.1016/j.neurobiolaging.2010.08.017) in this issue describes mounting evidence for an involvement of epigenetic alterations in the etiology of Alzheimer's disease (AD), highlighting the potential of epigenomic approaches for uncovering novel molecular pathways involved in pathology. Here, we briefly describe some methodological issues related to epigenomic studies using postmortem brain tissue in Alzheimer's disease, and argue for an integrated genetic-epigenetic approach to disease etiology.
MeSH term(s)	Aging/genetics ; Alzheimer Disease/genetics ; Epigenesis, Genetic/physiology ; Genetic Predisposition to Disease/genetics ; Humans
Language	English
Publishing date	2011-04-16
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Review ; Comment
ZDB-ID	604505-4
ISSN	1558-1497 ; 0197-4580
ISSN (online)	1558-1497
ISSN	0197-4580
DOI	10.1016/j.neurobiolaging.2010.10.021
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 1685: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MG 10: Show issues

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Profiling Regulatory Variation in the Brain: Methods for Exploring the Neuronal Epigenome.

Jeffries, Aaron R / Mill, Jonathan

Biological psychiatry

2016 Volume 81, Issue 2, Page(s) 90–91

MeSH term(s)	Brain ; CpG Islands ; Epigenesis, Genetic ; Humans
Language	English
Publishing date	2016-12-12
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Comment
ZDB-ID	209434-4
ISSN	1873-2402 ; 0006-3223
ISSN (online)	1873-2402
ISSN	0006-3223
DOI	10.1016/j.biopsych.2016.10.019
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 720: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Characterizing the properties of bisulfite sequencing data: maximizing power and sensitivity to identify between-group differences in DNA methylation.

Seiler Vellame, Dorothea / Castanho, Isabel / Dahir, Aisha / Mill, Jonathan / Hannon, Eilis

BMC genomics

2021 Volume 22, Issue 1, Page(s) 446

Abstract: Background: The combination of sodium bisulfite treatment with highly-parallel sequencing is a common method for quantifying DNA methylation across the genome. The power to detect between-group differences in DNA methylation using bisulfite-sequencing ... ...

Abstract	Background: The combination of sodium bisulfite treatment with highly-parallel sequencing is a common method for quantifying DNA methylation across the genome. The power to detect between-group differences in DNA methylation using bisulfite-sequencing approaches is influenced by both experimental (e.g. read depth, missing data and sample size) and biological (e.g. mean level of DNA methylation and difference between groups) parameters. There is, however, no consensus about the optimal thresholds for filtering bisulfite sequencing data with implications for the reproducibility of findings in epigenetic epidemiology. Results: We used a large reduced representation bisulfite sequencing (RRBS) dataset to assess the distribution of read depth across DNA methylation sites and the extent of missing data. To investigate how various study variables influence power to identify DNA methylation differences between groups, we developed a framework for simulating bisulfite sequencing data. As expected, sequencing read depth, group size, and the magnitude of DNA methylation difference between groups all impacted upon statistical power. The influence on power was not dependent on one specific parameter, but reflected the combination of study-specific variables. As a resource to the community, we have developed a tool, POWEREDBiSeq, which utilizes our simulation framework to predict study-specific power for the identification of DNAm differences between groups, taking into account user-defined read depth filtering parameters and the minimum sample size per group. Conclusions: Our data-driven approach highlights the importance of filtering bisulfite-sequencing data by minimum read depth and illustrates how the choice of threshold is influenced by the specific study design and the expected differences between groups being compared. The POWEREDBiSeq tool, which can be applied to different types of bisulfite sequencing data (e.g. RRBS, whole genome bisulfite sequencing (WGBS), targeted bisulfite sequencing and amplicon-based bisulfite sequencing), can help users identify the level of data filtering needed to optimize power and aims to improve the reproducibility of bisulfite sequencing studies.
MeSH term(s)	DNA Methylation ; Epigenomics ; High-Throughput Nucleotide Sequencing ; Reproducibility of Results ; Sequence Analysis, DNA ; Sulfites
Chemical Substances	Sulfites ; hydrogen sulfite (OJ9787WBLU)
Language	English
Publishing date	2021-06-15
Publishing country	England
Document type	Journal Article
ZDB-ID	2041499-7
ISSN	1471-2164 ; 1471-2164
ISSN (online)	1471-2164
ISSN	1471-2164
DOI	10.1186/s12864-021-07721-z
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Epigenetic age acceleration is associated with oligodendrocyte proportions in MSA and control brain tissue.

Murthy, Megha / Shireby, Gemma / Miki, Yasuo / Viré, Emmanuelle / Lashley, Tammaryn / Warner, Thomas T / Mill, Jonathan / Bettencourt, Conceição

Neuropathology and applied neurobiology

2022 Volume 49, Issue 1, Page(s) e12872

Abstract: Aims: Epigenetic clocks are widely applied as surrogates for biological age in different tissues and/or diseases, including several neurodegenerative diseases. Despite white matter (WM) changes often being observed in neurodegenerative diseases, no ... ...

Abstract	Aims: Epigenetic clocks are widely applied as surrogates for biological age in different tissues and/or diseases, including several neurodegenerative diseases. Despite white matter (WM) changes often being observed in neurodegenerative diseases, no study has investigated epigenetic ageing in white matter. Methods: We analysed the performances of two DNA methylation-based clocks, DNAmClock Results: Estimated DNA methylation (DNAm) ages showed strong correlations with chronological ages, even in WM (e.g., DNAmClock Conclusions: Our findings show that oligodendrocyte proportions positively influence epigenetic age acceleration across brain regions and highlight the need to further investigate this in ageing and neurodegeneration.
MeSH term(s)	Humans ; Multiple System Atrophy/metabolism ; Brain/metabolism ; Gray Matter/metabolism ; Oligodendroglia/metabolism ; DNA Methylation ; Epigenesis, Genetic
Language	English
Publishing date	2022-12-20
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	80371-6
ISSN	1365-2990 ; 0305-1846
ISSN (online)	1365-2990
ISSN	0305-1846
DOI	10.1111/nan.12872
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 1241: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

To top

More links

Kategorien

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito