Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach. Issue 5 (8th November 2019)
- Record Type:
- Journal Article
- Title:
- Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach. Issue 5 (8th November 2019)
- Main Title:
- Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach
- Authors:
- Sarogni, Patrizia
Pallotta, Maria M
Musio, Antonio - Abstract:
- Abstract : Cornelia de Lange syndrome (CdLS) is a severe genetic disorder characterised by multisystemic malformations. CdLS is due to pathogenetic variants in NIPBL, SMC1A, SMC3, RAD21 and HDAC8 genes which belong to the cohesin pathway. Cohesin plays a pivotal role in chromatid cohesion, gene expression, and DNA repair. In this review, we will discuss how perturbations in those biological processes contribute to CdLS phenotype and will emphasise the state-of-art of CdLS therapeutic approaches.
- Is Part Of:
- Journal of medical genetics. Volume 57:Issue 5(2020)
- Journal:
- Journal of medical genetics
- Issue:
- Volume 57:Issue 5(2020)
- Issue Display:
- Volume 57, Issue 5 (2020)
- Year:
- 2020
- Volume:
- 57
- Issue:
- 5
- Issue Sort Value:
- 2020-0057-0005-0000
- Page Start:
- 289
- Page End:
- 295
- Publication Date:
- 2019-11-08
- Subjects:
- cohesin -- Cornelia de Lange syndrome -- gene dysregulation -- genome instability -- therapeutic approaches
Medical genetics -- Periodicals
616.042 - Journal URLs:
- http://jmg.bmjjournals.com/ ↗
http://www.bmj.com/archive ↗ - DOI:
- 10.1136/jmedgenet-2019-106277 ↗
- Languages:
- English
- ISSNs:
- 1468-6244
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - BLDSS-3PM
British Library HMNTS - ELD Digital store - Ingest File:
- 19752.xml