Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance

Gene dosage anomalies such as those caused by aneuploidy underlie diseases including Down syndrome. Here, the authors perform allele-specific single cell transcriptome analysis to investigate the mechanisms of gene dosage imbalance in fibroblasts with trisomies T21, T18, T13 and T8.

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Autores principales:	Georgios Stamoulis, Marco Garieri, Periklis Makrythanasis, Audrey Letourneau, Michel Guipponi, Nikolaos Panousis, Frédérique Sloan-Béna, Emilie Falconnet, Pascale Ribaux, Christelle Borel, Federico Santoni, Stylianos E. Antonarakis
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2019
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/2887d59c2b434615a38d35934b46f74e
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spelling	oai:doaj.org-article:2887d59c2b434615a38d35934b46f74e2021-12-02T16:57:11ZSingle cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance10.1038/s41467-019-12273-82041-1723https://doaj.org/article/2887d59c2b434615a38d35934b46f74e2019-10-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-12273-8https://doaj.org/toc/2041-1723Gene dosage anomalies such as those caused by aneuploidy underlie diseases including Down syndrome. Here, the authors perform allele-specific single cell transcriptome analysis to investigate the mechanisms of gene dosage imbalance in fibroblasts with trisomies T21, T18, T13 and T8.Georgios StamoulisMarco GarieriPeriklis MakrythanasisAudrey LetourneauMichel GuipponiNikolaos PanousisFrédérique Sloan-BénaEmilie FalconnetPascale RibauxChristelle BorelFederico SantoniStylianos E. AntonarakisNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-11 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Georgios Stamoulis Marco Garieri Periklis Makrythanasis Audrey Letourneau Michel Guipponi Nikolaos Panousis Frédérique Sloan-Béna Emilie Falconnet Pascale Ribaux Christelle Borel Federico Santoni Stylianos E. Antonarakis Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance
description	Gene dosage anomalies such as those caused by aneuploidy underlie diseases including Down syndrome. Here, the authors perform allele-specific single cell transcriptome analysis to investigate the mechanisms of gene dosage imbalance in fibroblasts with trisomies T21, T18, T13 and T8.
format	article
author	Georgios Stamoulis Marco Garieri Periklis Makrythanasis Audrey Letourneau Michel Guipponi Nikolaos Panousis Frédérique Sloan-Béna Emilie Falconnet Pascale Ribaux Christelle Borel Federico Santoni Stylianos E. Antonarakis
author_facet	Georgios Stamoulis Marco Garieri Periklis Makrythanasis Audrey Letourneau Michel Guipponi Nikolaos Panousis Frédérique Sloan-Béna Emilie Falconnet Pascale Ribaux Christelle Borel Federico Santoni Stylianos E. Antonarakis
author_sort	Georgios Stamoulis
title	Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance
title_short	Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance
title_full	Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance
title_fullStr	Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance
title_full_unstemmed	Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance
title_sort	single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance
publisher	Nature Portfolio
publishDate	2019
url	https://doaj.org/article/2887d59c2b434615a38d35934b46f74e
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Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance

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