| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Yejin Yun, Sang-Yeon Le. Updates on Genetic Hearing Loss: From Diagnosis to Targeted Therapies. Journal of audiology & otology. vol 28. issue 2. 2024-05-02. PMID:38695053. |
for example, targeted small molecules have been used to ameliorate autoinflammatory hearing loss caused by gain-of-function variants of nlrp3 and inner ear proteinopathy with osbpl2 variants underlying dysfunctional autophagy. |
2024-05-02 |
2024-05-04 |
human |
| Hairong Shi, Hongshun Wang, Cheng Zhang, Yajie Lu, Jun Yao, Zhibin Chen, Guangqian Xing, Qinjun Wei, Xin Ca. Mutations in OSBPL2 cause hearing loss associated with primary cilia defects via Sonic Hedgehog signaling. JCI insight. 2022-01-18. PMID:35041619. |
mutations in osbpl2 cause hearing loss associated with primary cilia defects via sonic hedgehog signaling. |
2022-01-18 |
2023-08-13 |
mouse |
| Hongshun Wang, Changsong Lin, Jun Yao, Hairong Shi, Cui Zhang, Qinjun Wei, Yajie Lu, Zhibin Chen, Guangqian Xing, Xin Ca. Deletion of OSBPL2 in auditory cells increases cholesterol biosynthesis and drives reactive oxygen species production by inhibiting AMPK activity. Cell death & disease. vol 10. issue 9. 2020-09-11. PMID:31427568. |
oxysterol-binding protein like 2 (osbpl2) was identified as a novel causal gene for autosomal dominant nonsyndromic hearing loss. |
2020-09-11 |
2023-08-13 |
zebrafish |
| Hairong Shi, Hongshun Wang, Jun Yao, Changsong Lin, Qinjun Wei, Yajie Lu, Xin Ca. Comparative transcriptome analysis of auditory OC-1 cells and zebrafish inner ear tissues in the absence of human OSBPL2 orthologues. Biochemical and biophysical research communications. vol 521. issue 1. 2020-07-06. PMID:31629475. |
in our previous study, oxysterol-binding protein-related protein 2 (osbpl2) was first identified as a new deafness-causative gene contribute to non-syndromic hearing loss. |
2020-07-06 |
2023-08-13 |
human |
| 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 Da. OSBPL2-disrupted pigs recapitulate dual features of human hearing loss and hypercholesterolaemia. Journal of genetics and genomics = Yi chuan xue bao. vol 46. issue 8. 2020-06-18. PMID:31451425. |
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. |
2020-06-18 |
2023-08-13 |
human |
| Chunyu Liu, Jun Yao, Qinjun Wei, Guangqian Xing, Xin Ca. Spatial and temporal expression patterns of Osbpl2a and Osbpl2b during zebrafish embryonic development. International journal of pediatric otorhinolaryngology. vol 84. 2016-12-13. PMID:27063776. |
the mutated osbpl2 (omim: 606731), encoding oxysterol binding protein-like protein 2, was recently identified as a novel causative gene for autosomal dominant nonsyndromic hearing loss (adnshl). |
2016-12-13 |
2023-08-13 |
zebrafish |
| Michaela Thoenes, Ulrike Zimmermann, Inga Ebermann, Martin Ptok, Morag A Lewis, Holger Thiele, Susanne Morlot, Markus M Hess, Andreas Gal, Tobias Eisenberger, Carsten Bergmann, Gudrun Nürnberg, Peter Nürnberg, Karen P Steel, Marlies Knipper, Hanno Jörn Bol. OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67). Orphanet journal of rare diseases. vol 10. 2016-01-21. PMID:25759012. |
osbpl2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (dfna67). |
2016-01-21 |
2023-08-13 |
Not clear |
| Guangqian Xing, Jun Yao, Bin Wu, Tingting Liu, Qinjun Wei, Cheng Liu, Yajie Lu, Zhibin Chen, Heng Zheng, Xiaonan Yang, Xin Ca. Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing. Genetics in medicine : official journal of the American College of Medical Genetics. vol 17. issue 3. 2015-11-17. PMID:25077649. |
identification of osbpl2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing. |
2015-11-17 |
2023-08-13 |
Not clear |