期刊
JOURNAL OF MEDICAL GENETICS
卷 57, 期 5, 页码 289-295出版社
BMJ PUBLISHING GROUP
DOI: 10.1136/jmedgenet-2019-106277
关键词
cohesin; Cornelia de Lange syndrome; gene dysregulation; genome instability; therapeutic approaches
资金
- Fondazione Pisa
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.
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