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1篇 您的检索式:作者名="Huasha Zeng"
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1OSBPL2-disrupted pigs recapitulate dual features of human hearing loss and hypercholesterolaemia显示文摘Oxysterol binding protein like 2(OSBPL2), an important regulator in cellular lipid metabolism and transport, was identified as a novel deafness-causal gene in our previous work. To resemble the phenotypic features of OSBPL2 mutation in animal models and elucidate the potential genotypephenotype associations, the OSBPL2-disrupted Bama miniature(BM) pig model was constructed using CRISPR/Cas9-mediated gene editing, somatic cell nuclear transfer(SCNT) and embryo transplantation approaches, and then subjected to phenotypic characterization of auditory function and serum lipid profiles. The OSBPL2-disrupted pigs displayed progressive hearing loss(HL) with degeneration/apoptosis of cochlea hair cells(HCs) and morphological abnormalities in HC stereocilia, as well as hypercholesterolaemia. High-fat diet(HFD) feeding aggravated the development of HL and led to more severe hypercholesterolaemia. The dual phenotypes of progressive HL and hypercholesterolaemia resembled in OSBPL2-disrupted pigs confirmed the implication of OSBPL2 mutation in nonsydromic hearing loss(NSHL) and contributed to the potential linkage between auditory dysfunction and dyslipidaemia/hypercholesterolaemia.Jun Yao Huasha Zeng Min Zhang Qinjun Wei Ying Wang Haiyuan Yang Yajie Lu Rongfeng Li Qiang Xiong Lining Zhang Zhibin Chen Guangqian Xing Xin Cao Yifan Dai 2019Journal of Genetics and Genomics2019,46,8:7
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