In-frame deletion of SMC5 related with the phenotype of primordial dwarfism, chromosomal instability and insulin resistance.
Wenjiao ZhuYuanping ShiChangrun ZhangYajie PengYueyue WanYue XuXuemeng LiuBing HanShuangxia ZhaoYanping KuangHuaidong SongJie QiaoPublished in: Clinical and translational medicine (2023)
knock-in mouse model exhibited high mortality, severe growth restriction and fat loss. In 3T3-L1 cells, the knockdown of smc5 results in impaired MCE, a crucial step in adipogenesis. This finding implies that defective cell survival and differentiation is an important mechanism linking growth disorders and metabolic homeostasis imbalance.
Keyphrases
- insulin resistance
- mouse model
- adipose tissue
- induced apoptosis
- cell cycle arrest
- high fat diet induced
- type diabetes
- cardiovascular events
- high fat diet
- metabolic syndrome
- early onset
- polycystic ovary syndrome
- copy number
- risk factors
- endoplasmic reticulum stress
- skeletal muscle
- fatty acid
- oxidative stress
- coronary artery disease
- gene expression
- germ cell
- dna methylation
- pi k akt