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  Single-cell profiling for advancing birth defects research and prevention

Knudsen, T. B., Spielmann, M., Megason, S. G., & Faustman, E. M. (2021). Single-cell profiling for advancing birth defects research and prevention. Birth Defects Research, 113(7), 546-559. doi:10.1002/bdr2.1870.

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BirthDefectsRes_Knudsen_2021.pdf (Publisher version), 5MB
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 Creators:
Knudsen, Thomas B. , Author
Spielmann, Malte1, 2, Author              
Megason, Sean G. , Author
Faustman, Elaine M. , Author
Affiliations:
1Human Molecular Genomics (Malte Spielmann), Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_3014183              
2Institute of Human Genetics, University of Lübeck, Lübeck, Germany, ou_persistent22              

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Free keywords: birth defects, developmental toxicity, single cell profiling, single cell RNA-seq
 Abstract: Cellular analysis of developmental processes and toxicities has traditionally entailed bulk methods (e.g., transcriptomics) that lack single cell resolution or tissue localization methods (e.g., immunostaining) that allow only a few genes to be monitored in each experiment. Recent technological advances have enabled interrogation of genomic function at the single-cell level, providing new opportunities to unravel developmental pathways and processes with unprecedented resolution. Here, we review emerging technologies of single-cell RNA-sequencing (scRNA-seq) to globally characterize the gene expression sets of different cell types and how different cell types emerge from earlier cell states in development. Cell atlases of experimental embryology and human embryogenesis at single-cell resolution will provide an encyclopedia of genes that define key stages from gastrulation to organogenesis. This technology, combined with computational models to discover key organizational principles, was recognized by Science magazine as the “Breakthrough of the year” for 2018 due to transformative potential on the way we study how human cells mature over a lifetime, how tissues regenerate, and how cells change in diseases (e.g., patient-derived organoids to screen disease-specific targets and design precision therapy). Profiling transcriptomes at the single-cell level can fulfill the need for greater detail in the molecular progression of all cell lineages, from pluripotency to adulthood and how cell–cell signaling pathways control progression at every step. Translational opportunities emerge for elucidating pathogenesis of genetic birth defects with cellular precision and improvements for predictive toxicology of chemical teratogenesis.

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Language(s): eng - English
 Dates: 2021-01-252021-04-15
 Publication Status: Published in print
 Pages: -
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 Rev. Type: -
 Identifiers: DOI: 10.1002/bdr2.1870
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Title: Birth Defects Research
Source Genre: Journal
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Publ. Info: Hoboken, New Jersey : John Wiley & Sons
Pages: 14 Volume / Issue: 113 (7) Sequence Number: - Start / End Page: 546 - 559 Identifier: ISSN: 2472-1727 (online)