Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing

Guangqian Xing, Jun Yao, Bin Wu, +8

Genetics in Medicine

Developmental BiologyGenetic DisorderWhole-exome SequencingGeneticsNext-generation Sequencing +9

Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss

Qinjun Wei, Hongmei Zhu, Xuli Qian, +5

Journal of Translational Medicine

Maternally inherited non-syndromic hearing loss associated with mitochondrial 12S rRNA A827G mutation in a Chinese family

Guangqian Xing, Zhibin Chen, Qinjun Wei, +5

Biochemical and Biophysical Research Communications

BiologyChinese FamilyMendelian DisorderGenetic DisorderGenetics +11

Analysis of Carbon Metabolism and Improvement of γ-Polyglutamic Acid Production from Bacillus subtilis NX-2

Jun Yao, Hong Xu, Ningning Shi, +4

Applied Biochemistry and Biotechnology

γ-Polyglutamic Acid ProductionBiosynthesisEngineeringBiochemistryMedicine +8

Deletion of OSBPL2 in auditory cells increases cholesterol biosynthesis and drives reactive oxygen species production by inhibiting AMPK activity

Hongshun Wang, Changsong Lin, Jun Yao, +7

Cell Death and Disease

Mitochondrial 12S rRNA A827G mutation is involved in the genetic susceptibility to aminoglycoside ototoxicity

Guangqian Xing, Zhibin Chen, Qinjun Wei, +5

Biochemical and Biophysical Research Communications

Mitochondrial FunctionBiochemistryMedicineGenetic SusceptibilityLipid Peroxidation +7

OSBPL2 deficiency upregulate SQLE expression increasing intracellular cholesterol and cholesteryl ester by AMPK/SP1 and SREBF2 signalling pathway

Cui Zhang, Hongdu Zhang, Min Zhang, +8

Experimental Cell Research

Lipid PeroxidationMolecular BiologyIntracellular CholesterolCholesterol SynthesisOxidative Stress +16

OSBPL2-disrupted pigs recapitulate dual features of human hearing loss and hypercholesterolaemia

Jun Yao, Huasha Zeng, Min Zhang, +11

Journal of genetics and genomics/Journal of Genetics and Genomics

GeneticsHuman Hearing LossOxidative StressBone Morphogenic ProteinOsbpl2 Mutation +19

OSBPL2 Is Required for the Binding of COPB1 to ATGL and the Regulation of Lipid Droplet Lipolysis

Tianming Wang, Qinjun Wei, Lihong Liang, +7

iScience

Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1

Xuli Qian, Luyang Qin, Guangqian Xing, +1

Scientific Reports