Associated Papers
Whole-exome sequencing for the genetic diagnosis of early-onset high myopia and associated hereditary eye disorders.
Han C et al.
Bmc Medical Genomics, 2026
18 individual genes underwent variant screening in a northwest Chinese group comprised 83 probands diagnosed with early-onset high myopia.
Liu Y et al.
Plos One, 2025
Genetic inactivation of zinc transporter SLC39A5 improves liver function and hyperglycemia in obesogenic settings.
Chim SM et al.
Elife, 2024
Genetic and clinical landscape of ARR3-associated MYP26: the most common cause of Mendelian early-onset high myopia with a unique inheritance.
Wang Y et al.
The British Journal of Ophthalmology, 2023
36180177 (PubMed )
Supplement: bjo-2022-321511supp006.pdf
Dose Dependence Effect in Biallelic WNT10A Variant-Associated Tooth Agenesis Phenotype.
Liu H et al.
Diagnostics (basel, Switzerland), 2022
36553094 (PubMed )
Supplement: diagnostics-12-03087-s001.zip › Table_S1_.pdf
SLC39A5 dysfunction impairs extracellular matrix synthesis in high myopia pathogenesis.
Dong S et al.
Journal of Cellular and Molecular Medicine, 2021
Mutation screening of 17 candidate genes in a cohort of 67 probands with early-onset high myopia.
Liu F et al.
Ophthalmic & Physiological Optics : the Journal of the British College of Ophthalmic Opticians (optometrists), 2020
Expanding the Phenotypic and Genotypic Landscape of Nonsyndromic High Myopia: A Cross-Sectional Study in 731 Chinese Patients.
Cai XB et al.
Investigative Ophthalmology & Visual Science, 2019
Mutational screening of SLC39A5, LEPREL1 and LRPAP1 in a cohort of 187 high myopia patients.
Feng CY et al.
Scientific Reports, 2017
Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.
Jiang D et al.
Investigative Ophthalmology & Visual Science, 2014
SLC39A5 mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopia.
Guo H et al.
Journal of Medical Genetics, 2014
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