Unknown

Dataset Information

0

Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach.

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.

SUBMITTER: Sarogni P 

PROVIDER: S-EPMC7231464 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach.

Sarogni Patrizia P   Pallotta Maria M MM   Musio Antonio A  

Journal of medical genetics 20191108 5

Cornelia de Lange syndrome (CdLS) is a severe genetic disorder characterised by multisystemic malformations. CdLS is due to pathogenetic variants in <i>NIPBL</i>, <i>SMC1A</i>, <i>SMC3</i>, <i>RAD21</i> and <i>HDAC8</i> 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  ...[more]

Similar Datasets

Unknown Mutational Screening and Prenatal Diagnosis in Cornelia de Lange syndrome.
| S-EPMC3931894 | biostudies-literature
Unknown On the molecular etiology of Cornelia de Lange syndrome.
| S-EPMC2733214 | biostudies-literature
Unknown Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome.
| S-EPMC7889653 | biostudies-literature
Unknown Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.
| S-EPMC7136165 | biostudies-literature
Unknown Cornelia de Lange syndrome in diverse populations.
| S-EPMC6367950 | biostudies-literature
Unknown Cornelia de Lange syndrome, cohesin, and beyond.
| S-EPMC2853897 | biostudies-literature
Unknown Cornelia de Lange Syndrome as Paradigm of Chromatinopathies.
| S-EPMC8603810 | biostudies-literature
Transcriptomics Transcriptome comparison between CHOPS syndrome and Cornelia de Lange syndrome
2015-01-27 | GSE64034 | GEO
Unknown Successful Growth Hormone Therapy in Cornelia de Lange Syndrome.
| S-EPMC5785645 | biostudies-literature
Unknown Temporal bone CT findings in Cornelia de Lange syndrome.
| S-EPMC8118888 | biostudies-literature