Defects of cohesin loader lead to bone dysplasia associated with transcriptional disturbance

Cohesin loader nipped‐B‐like protein (Nipbl) is increasingly recognized for its important role in development and cancer. Cornelia de Lange Syndrome (CdLS), mostly caused by heterozygous mutations of Nipbl, is an autosomal dominant disease characterized by multiorgan malformations. However, the regu...

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Veröffentlicht in:	Journal of cellular physiology 2021-12, Vol.236 (12), p.8208-8225
Hauptverfasser:	Gu, Weihuai, Wang, Lihong, Gu, Renjie, Ouyang, Huiya, Bao, Baicheng, Zheng, Liwei, Xu, Baoshan
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Apoptosis Biomedical materials Bone Diseases, Developmental - genetics Bone Diseases, Developmental - metabolism Bone dysplasia Cartilage Cell cycle Cell differentiation Cell growth Cell proliferation Cell survival cellular senescence Cellular stress response Chromosome Segregation - genetics Cohesin Damage accumulation De Lange syndrome De Lange Syndrome - genetics De Lange Syndrome - metabolism Defects Depletion Differentiation (biology) DNA damage Embryo fibroblasts Evolution Fibrillarin Fibroblasts Fibroblasts - metabolism Genes Glial stem cells Heterozygote integrated stress response (ISR) Loaders Mutation Mutation - genetics Neural crest Neural stem cells Nipbl Nucleoli Osteoblastogenesis Osteoblasts Osteogenesis Osteogenesis - genetics Osteoprogenitor cells Phenotype Precursors Proteins rRNA Senescence Skeleton skeleton development Survival Transcription Transcription, Genetic - genetics Zebrafish Zebrafish - genetics
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