LIVIVO - Search results -

Search results

Result 1 - 10 of total 123

Search options

Article ; Online: Neuropsychiatric biomarker discovery: go big or go home.

Ljungdahl, Alicia / Sanders, Stephan J

2023 Volume 29, Issue 11, Page(s) 878–879

Abstract: Technological advances have enabled high-throughput omics assays, such as parallelized screening of lipids across plasma samples. Pioneering a new paradigm for neuropsychiatric biomarker discovery, Yap et al. describe a large-scale systematic analysis of ...

Abstract	Technological advances have enabled high-throughput omics assays, such as parallelized screening of lipids across plasma samples. Pioneering a new paradigm for neuropsychiatric biomarker discovery, Yap et al. describe a large-scale systematic analysis of comprehensive phenotypic, genotypic, environmental, and lipidomic data to unravel the intricate interplay between these and autism-associated traits.
MeSH term(s)	Humans ; Biomarkers/analysis ; Biomedical Research ; High-Throughput Screening Assays
Chemical Substances	Biomarkers
Language	English
Publishing date	2023-09-14
Publishing country	England
Document type	Journal Article
ZDB-ID	2036490-8
ISSN	1471-499X ; 1471-4914
ISSN (online)	1471-499X
ISSN	1471-4914
DOI	10.1016/j.molmed.2023.09.002
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 4345: 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

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.

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Next-Generation Sequencing in Autism Spectrum Disorder.

Sanders, Stephan J

Cold Spring Harbor perspectives in medicine

2019 Volume 9, Issue 8

Abstract: Autism spectrum disorder (ASD) is a common disorder that causes substantial distress. Heritability studies consistently show a strong genetic contribution, raising the hope that identifying ASD-associated genetic variants will offer insights into ... ...

Abstract	Autism spectrum disorder (ASD) is a common disorder that causes substantial distress. Heritability studies consistently show a strong genetic contribution, raising the hope that identifying ASD-associated genetic variants will offer insights into neurobiology and ultimately therapeutics. Next-generation sequencing (NGS) enabled the identification of disruptive variants throughout protein-coding regions of the genome. Alongside large cohorts and novel statistical methods, these NGS methods revolutionized ASD gene discovery. NGS methods have also contributed substantially to functional genetic data, such as gene expression, used to understand the neurobiological consequences of disrupting these ASD-associated genes. These functional data are also critical for annotating the noncoding genome as whole-genome sequencing (WGS) begins to provide initial insights outside of protein-coding regions. NGS methods still have a major role to play, as do similarly transformative advances in stem cell and gene-editing methods, in translating genetic discoveries into a first generation of ASD therapeutics.
MeSH term(s)	Animals ; Autism Spectrum Disorder/genetics ; Disease Models, Animal ; Genetic Predisposition to Disease ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Mutation, Missense ; Whole Genome Sequencing
Language	English
Publishing date	2019-08-01
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
ISSN	2157-1422
ISSN (online)	2157-1422
DOI	10.1101/cshperspect.a026872
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: First glimpses of the neurobiology of autism spectrum disorder.

Sanders, Stephan J

Current opinion in genetics & development

2015 Volume 33, Page(s) 80–92

Abstract: Rapid progress in identifying the genes underlying autism spectrum disorder (ASD) has provided the substrate for a first wave of analyses into the underlying neurobiology. This review describes the consensus across these diverse analyses, highlighting ... ...

Abstract	Rapid progress in identifying the genes underlying autism spectrum disorder (ASD) has provided the substrate for a first wave of analyses into the underlying neurobiology. This review describes the consensus across these diverse analyses, highlighting two distinct sets of genes: 1) Genes that regulate chromatin and transcription, especially in cortical projection neurons and striatal medium spiny neurons during mid-fetal development; and 2) Genes involved in synapse development and function, especially during infancy and early childhood, and differentially expressed in the post mortem ASD brain. Both gene sets are also regulatory targets of the ASD genes CHD8 and FMRP. It remains to be seen whether these represent two independent paths to the ASD phenotype or two components of a common path.
MeSH term(s)	Autism Spectrum Disorder/genetics ; Autism Spectrum Disorder/metabolism ; Autism Spectrum Disorder/pathology ; Child ; Child, Preschool ; Chromatin/genetics ; DNA-Binding Proteins/genetics ; Fragile X Mental Retardation Protein/genetics ; Gene Expression Regulation, Developmental ; Humans ; Infant ; Infant, Newborn ; Neurons/metabolism ; Neurons/pathology ; Synapses/genetics ; Synapses/metabolism ; Transcription Factors/genetics ; Transcription, Genetic ; Visual Cortex/growth & development ; Visual Cortex/metabolism
Chemical Substances	CHD8 protein, human ; Chromatin ; DNA-Binding Proteins ; FMR1 protein, human ; Transcription Factors ; Fragile X Mental Retardation Protein (139135-51-6)
Language	English
Publishing date	2015-08
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	1077312-5
ISSN	1879-0380 ; 0959-437X
ISSN (online)	1879-0380
ISSN	0959-437X
DOI	10.1016/j.gde.2015.10.002
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 3240: 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 ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Clinical impact of splicing in neurodevelopmental disorders.

Sanders, Stephan J / Schwartz, Grace B / Farh, Kyle Kai-How

Genome medicine

2020 Volume 12, Issue 1, Page(s) 36

Abstract: Clinical exome sequencing is frequently used to identify gene-disrupting variants in individuals with neurodevelopmental disorders. While splice-disrupting variants are known to contribute to these disorders, clinical interpretation of cryptic splice ... ...

Abstract	Clinical exome sequencing is frequently used to identify gene-disrupting variants in individuals with neurodevelopmental disorders. While splice-disrupting variants are known to contribute to these disorders, clinical interpretation of cryptic splice variants outside of the canonical splice site has been challenging. Here, we discuss papers that improve such detection.
MeSH term(s)	Humans ; Neurodevelopmental Disorders/genetics ; RNA Splicing
Language	English
Publishing date	2020-04-24
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2484394-5
ISSN	1756-994X ; 1756-994X
ISSN (online)	1756-994X
ISSN	1756-994X
DOI	10.1186/s13073-020-00737-2
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article: AlphaMissense is better correlated with functional assays of missense impact than earlier prediction algorithms.

Ljungdahl, Alicia / Kohani, Sayeh / Page, Nicholas F / Wells, Eloise S / Wigdor, Emilie M / Dong, Shan / Sanders, Stephan J

bioRxiv : the preprint server for biology

2023

Abstract: Missense variants that alter a single amino acid in the encoded protein contribute to many human disorders but pose a substantial challenge in interpretation. Though these variants can be reliably identified through sequencing, distinguishing the ... ...

Abstract	Missense variants that alter a single amino acid in the encoded protein contribute to many human disorders but pose a substantial challenge in interpretation. Though these variants can be reliably identified through sequencing, distinguishing the clinically significant ones remains difficult, such that "Variants of Unknown Significance" outnumber those classified as "Pathogenic" or "Likely Pathogenic." Numerous
Language	English
Publishing date	2023-10-27
Publishing country	United States
Document type	Preprint
DOI	10.1101/2023.10.24.562294
Database	MEDical Literature Analysis and Retrieval System OnLINE

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Details ▾

Article ; Online: Appreciating the Population-wide Impact of Copy Number Variants on Cognition.

An, Joon-Yong / Sanders, Stephan J

Biological psychiatry

2017 Volume 82, Issue 2, Page(s) 78–80

Language	English
Publishing date	2017-07-15
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.2017.05.010
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: Characterization of De Novo Promoter Variants in Autism Spectrum Disorder with Massively Parallel Reporter Assays.

Koesterich, Justin / An, Joon-Yong / Inoue, Fumitaka / Sohota, Ajuni / Ahituv, Nadav / Sanders, Stephan J / Kreimer, Anat

International journal of molecular sciences

2023 Volume 24, Issue 4

Abstract: Autism spectrum disorder (ASD) is a common, complex, and highly heritable condition with contributions from both common and rare genetic variations. While disruptive, rare variants in protein-coding regions clearly contribute to symptoms, the role of ... ...

Abstract	Autism spectrum disorder (ASD) is a common, complex, and highly heritable condition with contributions from both common and rare genetic variations. While disruptive, rare variants in protein-coding regions clearly contribute to symptoms, the role of rare non-coding remains unclear. Variants in these regions, including promoters, can alter downstream RNA and protein quantity; however, the functional impacts of specific variants observed in ASD cohorts remain largely uncharacterized. Here, we analyzed 3600 de novo mutations in promoter regions previously identified by whole-genome sequencing of autistic probands and neurotypical siblings to test the hypothesis that mutations in cases have a greater functional impact than those in controls. We leveraged massively parallel reporter assays (MPRAs) to detect transcriptional consequences of these variants in neural progenitor cells and identified 165 functionally high confidence de novo variants (HcDNVs). While these HcDNVs are enriched for markers of active transcription, disruption to transcription factor binding sites, and open chromatin, we did not identify differences in functional impact based on ASD diagnostic status.
MeSH term(s)	Humans ; Autism Spectrum Disorder/genetics ; Genetic Predisposition to Disease ; Mutation ; Autistic Disorder/genetics ; Promoter Regions, Genetic
Language	English
Publishing date	2023-02-09
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms24043509
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Physical and functional convergence of the autism risk genes Scn2a and Ank2 in neocortical pyramidal cell dendrites.

Nelson, Andrew D / Catalfio, Amanda M / Gupta, Julie P / Min, Lia / Caballero-Florán, René N / Dean, Kendall P / Elvira, Carina C / Derderian, Kimberly D / Kyoung, Henry / Sahagun, Atehsa / Sanders, Stephan J / Bender, Kevin J / Jenkins, Paul M

Neuron

2024 Volume 112, Issue 7, Page(s) 1133–1149.e6

Abstract: Dysfunction in sodium channels and their ankyrin scaffolding partners have both been implicated in neurodevelopmental disorders, including autism spectrum disorder (ASD). In particular, the genes SCN2A, which encodes the sodium channel ... ...

Abstract	Dysfunction in sodium channels and their ankyrin scaffolding partners have both been implicated in neurodevelopmental disorders, including autism spectrum disorder (ASD). In particular, the genes SCN2A, which encodes the sodium channel Na
MeSH term(s)	Animals ; Mice ; Ankyrins/genetics ; Ankyrins/metabolism ; Autism Spectrum Disorder/genetics ; Autism Spectrum Disorder/metabolism ; Autistic Disorder/metabolism ; Dendrites/physiology ; NAV1.2 Voltage-Gated Sodium Channel/genetics ; Neocortex/metabolism ; Pyramidal Cells/physiology
Chemical Substances	Ankyrins ; NAV1.2 Voltage-Gated Sodium Channel ; Scn2a protein, mouse ; Ank2 protein, mouse
Language	English
Publishing date	2024-01-29
Publishing country	United States
Document type	Journal Article
ZDB-ID	808167-0
ISSN	1097-4199 ; 0896-6273
ISSN (online)	1097-4199
ISSN	0896-6273
DOI	10.1016/j.neuron.2024.01.003
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 2496: 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)
Zs.MG 92: Show issues

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article: CWAS-Plus: Estimating category-wide association of rare noncoding variation from whole-genome sequencing data with cell-type-specific functional data.

Kim, Yujin / Jeong, Minwoo / Koh, In Gyeong / Kim, Chanhee / Lee, Hyeji / Kim, Jae Hyun / Yurko, Ronald / Kim, Il Bin / Park, Jeongbin / Werling, Donna M / Sanders, Stephan J / An, Joon-Yong

medRxiv : the preprint server for health sciences

2024

Abstract: Variants in cis-regulatory elements link the noncoding genome to human brain pathology; however, detailed analytic tools for understanding the association between cell-level brain pathology and noncoding variants are lacking. CWAS-Plus, adapted from a ... ...

Abstract	Variants in cis-regulatory elements link the noncoding genome to human brain pathology; however, detailed analytic tools for understanding the association between cell-level brain pathology and noncoding variants are lacking. CWAS-Plus, adapted from a Python package for category-wide association testing (CWAS) employs both whole-genome sequencing and user-provided functional data to enhance noncoding variant analysis, with a faster and more efficient execution of the CWAS workflow. Here, we used single-nuclei assay for transposase-accessible chromatin with sequencing to facilitate CWAS-guided noncoding variant analysis at cell-type specific enhancers and promoters. Examining autism spectrum disorder whole-genome sequencing data (n = 7,280), CWAS-Plus identified noncoding Key points: CWAS-Plus efficiently identifies noncoding associations in WGS data, supporting user-friendly categorization and burden enrichment tests.CWAS-Plus integrates various functional datasets, emphasizing cell-type-specific noncoding associations.CWAS-Plus provides a novel approach for multiple testing correction, enhancing the reliability of the results.Autism spectrum disorder risk noncoding variants are identified as enriched with transcription factors, suggesting their role in the pathology.Rare variant analysis with Alzheimer's disease samples reveals strong association with microglia, supporting the reliability of the results produced by CWAS-Plus.
Language	English
Publishing date	2024-04-15
Publishing country	United States
Document type	Preprint
DOI	10.1101/2024.04.15.24305828
Database	MEDical Literature Analysis and Retrieval System OnLINE

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Details ▾

Article ; Online: Examining Sex Differences in Autism Heritability.

Sandin, Sven / Yip, Benjamin H K / Yin, Weiyao / Weiss, Lauren A / Dougherty, Joseph D / Fass, Stuart / Constantino, John N / Hailin, Zhu / Turner, Tychele N / Marrus, Natasha / Gutmann, David H / Sanders, Stephan J / Christoffersson, Benjamin

JAMA psychiatry

2024

Abstract: Importance: Autism spectrum disorder (ASD) is a neurodevelopmental disorder more prevalent in males than in females. The cause of ASD is largely genetic, but the association of genetics with the skewed sex ratio is not yet understood. To our knowledge, ... ...

Abstract	Importance: Autism spectrum disorder (ASD) is a neurodevelopmental disorder more prevalent in males than in females. The cause of ASD is largely genetic, but the association of genetics with the skewed sex ratio is not yet understood. To our knowledge, no large population-based study has provided estimates of heritability by sex. Objective: To estimate the sex-specific heritability of ASD. Design, setting, and participants: This was a population-based, retrospective analysis using national health registers of nontwin siblings and cousins from Sweden born between January 1, 1985, and December 31, 1998, with follow-up to 19 years of age. Data analysis occurred from August 2022 to November 2023. Main outcomes and measures: Models were fitted to estimate the relative variance in risk for ASD occurrence owing to sex-specific additive genetics, shared environmental effects, and a common residual term. The residual term conceptually captured other factors that promote individual behavioral variation (eg, maternal effects, de novo variants, rare genetic variants not additively inherited, or gene-environment interactions). Estimates were adjusted for differences in prevalence due to birth year and maternal and paternal age by sex. Results: The sample included 1 047 649 individuals in 456 832 families (538 283 males [51.38%]; 509 366 females [48.62%]). Within the entire sample, 12 226 (1.17%) received a diagnosis of ASD, comprising 8128 (1.51%) males and 4098 (0.80%) females. ASD heritability was estimated at 87.0% (95% CI, 81.4%-92.6%) for males and 75.7% (95% CI, 68.4%-83.1%) for females with a difference in heritability estimated at 11.3% (95% CI, 1.0%-21.6%). There was no support for shared environmental contributions. Conclusions and relevance: These findings suggest that the degree of phenotypic variation attributable to genetic differences (heritability) differs between males and females, indicating that some of the underlying causes of the condition may differ between the 2 sexes. The skewed sex ratio in ASD may be partly explained by differences in genetic variance between the sexes.
Language	English
Publishing date	2024-04-17
Publishing country	United States
Document type	Journal Article
ZDB-ID	2701203-7
ISSN	2168-6238 ; 2168-622X
ISSN (online)	2168-6238
ISSN	2168-622X
DOI	10.1001/jamapsychiatry.2024.0525
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Ui I Zs.235: Show issues

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

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

To top

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

Inter-library loan at ZB MED

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

Inter-library loan at ZB MED

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

Inter-library loan at ZB MED

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito