Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus

Published:2024-09-13 Issue:1 Volume:16 Page:
ISSN:1756-994X
Container-title:Genome Medicine
language:en
Short-container-title:Genome Med

Author:

Daly Adrian F.^ORCID,Dunnington Leslie A.,Rodriguez-Buritica David F.,Spiegel Erica,Brancati Francesco^ORCID,Mantovani Giovanna,Rawal Vandana M.,Faucz Fabio Rueda,Hijazi Hadia,Caberg Jean-Hubert,Nardone Anna Maria,Bengala Mario,Fortugno Paola,Del Sindaco Giulia,Ragonese Marta,Gould Helen,Cannavò Salvatore,Pétrossians Patrick,Lania Andrea,Lupski James R.^ORCID,Beckers Albert,Stratakis Constantine A.,Levy Brynn,Trivellin Giampaolo^ORCID,Franke Martin^ORCID

Funder

Fondazione Telethon

Society for Endocrinology

Centre Hospitalier Universitaire de Liège

Eunice Kennedy Shriver National Institute of Child Health and Human Development

National Institute of Health

Ministero della Salute

Ministero dell’Istruzione, dell’Università e della Ricerca

'la Caixa' Foundation

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1186/s13073-024-01378-5.pdf

Reference47 articles.

1. Ibrahim DM, Mundlos S. Three-dimensional chromatin in disease: what holds us together and what drives us apart? Curr Opin Cell Biol. 2020;64:1–9. https://doi.org/10.1016/j.ceb.2020.01.003.

2. da Costa-Nunes JA, Noordermeer D. TADs: dynamic structures to create stable regulatory functions. Curr Opin Struct Biol. 2023;81:102622. https://doi.org/10.1016/j.sbi.2023.102622.

3. Dixon JR, Selvaraj S, Yue F, Kim A, Li Y, Shen Y, et al. Topological domains in mammalian genomes identified by analysis of chromatin interactions. Nature. 2012;485:376–80. https://doi.org/10.1038/nature11082.

4. Phillips-Cremins JE, Sauria MEG, Sanyal A, Gerasimova TI, Lajoie BR, Bell JSK, et al. Architectural protein subclasses shape 3D organization of genomes during lineage commitment. Cell. 2013;153:1281–95. https://doi.org/10.1016/J.CELL.2013.04.053.

5. Lupiáñez DG, Spielmann M, Mundlos S. Breaking TADs: how alterations of chromatin domains result in disease. Trends Genet. 2016;32:225–37. https://doi.org/10.1016/J.TIG.2016.01.003.

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3