Article
Disease-associated c-MYC downregulation in human disorders of transcriptional regulation.
Human molecular genetics - 19 May 2022
Pallotta Maria M, Di Nardo Maddalena, Sarogni Patrizia, Krantz Ian D, Musio Antonio
Abstract excerpt
Cornelia de Lange syndrome (CdLS) is a rare multiorgan developmental disorder caused by pathogenic variants in cohesin genes. It is a genetically and clinically heterogeneous dominant (both autosomal and X-linked) rare disease. Increasing experimental evidence indicates that CdLS is caused by a combination of factors, such as gene expression dysregulation, accumulation of cellular damage and cellular aging, which...
Topics
- Abnormalities, Multiple
- Bone Diseases, Developmental
- Cell Cycle Proteins
- De Lange Syndrome
- Down-Regulation
- Facies
- Humans
- Intellectual Disability
- Mutation
- Phenotype
- Proto-Oncogene Proteins c-myc