CHONDRODYSPLASIA

作品数：2被引量：0H指数：0
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Melatonin ameliorates Slc26a2-associated chondrodysplasias by attenuating endoplasmic reticulum stress and apoptosis of chondrocytes
《Genes & Diseases》2025年第2期425-437,共13页Pan Li Chao Zheng Jingyan Hu Weiguang Lu Dong Wang Xue Hao Chengxiang Zhao Liu Yang Zhuojing Luo Qiang Jie 
supported by the National Natural Science Foundation of China (No.82272442,82372361);the Key Industrial Chain Program of Shaanxi,China (No.2022ZDLSF02-12).
Although the pathogenesis and mechanism of congenital skeletal dysplasia are bet-ter understood,progress in drug development and intervention research remains limited.Here we report that melatonin treatment elicits a ...
关键词：Ca^(2+)overload CHONDRODYSPLASIA Endoplasmic reticulum stress MELATONIN SLC26A2 
Rhizomelic Chondrodysplasia Punctata Type I
《International Journal of Clinical Medicine》2010年第2期84-86,共3页Moataz Abbara Abdullah Tolaymat M. Adel Abdessamad M. Sami Walid 
Rhizomelic Chondrodysplasia Punctata Type I is one of the rare peroxisome disorders. We report the case of a newborn white male that developed seizures and skeletal dysmorphism. The baby had short humerus bones with s...
关键词：Rhizomelic CHONDRODYSPLASIA Punctata TYPE I SEIZURE SHORT HUMERUS 
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