Associated Papers
A human-specific cytotoxic neopeptide generated by the deafness gene Cingulin.
Huang Y et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2024
OSBPL2 compound heterozygous variants cause dyschromatosis, ichthyosis, deafness and atopic disease syndrome.
Wang Y et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024
OSBPL2 mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin.
Koh YI et al.
Autophagy, 2022
Searching for the Molecular Basis of Partial Deafness.
Oziębło D et al.
International Journal of Molecular Sciences, 2022
Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation.
Rim JH et al.
Human Genetics, 2022
34519870 (PubMed )
Supplement: 439_2021_2367_MOESM1_ESM.pdf
Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss.
D'Aguillo C et al.
International Journal of Audiology, 2019
OSBPL2-disrupted pigs recapitulate dual features of human hearing loss and hypercholesterolaemia.
Yao J et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2019
A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family.
Wu N et al.
Bmc Medical Genetics, 2019
Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing.
Xing G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
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