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Year | Number of Results |
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2015 | 1 |
2022 | 3 |
2024 | 0 |
PubMed (GeneRIF) for id: 228983
4 results
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The lipid transporter ORP2 regulates synaptic neurotransmitter release via two distinct mechanisms.
Cell Rep. 2022 Dec 27;41(13):111882. doi: 10.1016/j.celrep.2022.111882.
Cell Rep. 2022.
PMID: 36577376
Free article.
OSBPL2 mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin.
Koh YI, Oh KS, Kim JA, Noh B, Choi HJ, Joo SY, Rim JH, Kim HY, Kim DY, Yu S, Kim DH, Lee SG, Jung J, Choi JY, Gee HY.
Koh YI, et al.
Autophagy. 2022 Nov;18(11):2593-2614. doi: 10.1080/15548627.2022.2040891. Epub 2022 Mar 6.
Autophagy. 2022.
PMID: 35253614
Free PMC article.
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Mutations in OSBPL2 cause hearing loss associated with primary cilia defects via sonic hedgehog signaling.
Shi H, Wang H, Zhang C, Lu Y, Yao J, Chen Z, Xing G, Wei Q, Cao X.
Shi H, et al.
JCI Insight. 2022 Feb 22;7(4):e149626. doi: 10.1172/jci.insight.149626.
JCI Insight. 2022.
PMID: 35041619
Free PMC article.
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OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).
Thoenes M, Zimmermann U, Ebermann I, Ptok M, Lewis MA, Thiele H, Morlot S, Hess MM, Gal A, Eisenberger T, Bergmann C, Nürnberg G, Nürnberg P, Steel KP, Knipper M, Bolz HJ.
Thoenes M, et al.
Orphanet J Rare Dis. 2015 Feb 10;10:15. doi: 10.1186/s13023-015-0238-5.
Orphanet J Rare Dis. 2015.
PMID: 25759012
Free PMC article.
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