Associated Papers
Membranous aplasia cutis congenita: A rare case report highlighting clinical presentation, genetic insights, and the need for comprehensive evaluation.
She QY et al.
Heliyon, 2024
Somatic Mutations within Myocilin due to Aging May Be a Potential Risk Factor for Glaucoma.
Sazhnyev Y et al.
Genes, 2024
38397193 (PubMed )
Supplement: genes-15-00203-s001.zip › genes-2821445-supplementary.xlsx › Sheet1
Evaluation of Myocilin Variant Protein Structures Modeled by AlphaFold2.
Ng TK et al.
Biomolecules, 2023
Quantitative differentiation of benign and misfolded glaucoma-causing myocilin variants on the basis of protein thermal stability.
Scelsi HF et al.
Disease Models & Mechanisms, 2023
Dendritic Spine in Autism Genetics: Whole-Exome Sequencing Identifying De Novo Variant of CTTNBP2 in a Quad Family Affected by Autism Spectrum Disorder.
Xie Y et al.
Children (basel, Switzerland), 2022
36670631 (PubMed )
Supplement: children-10-00080-s001.zip › children-2044403-supplementary › children-2044403-Supplementary › Supplementary_Tables-R1.xlsx › STS5
Prevalence of MYOC risk variants for glaucoma in different populations.
Liuska PJ et al.
Acta Ophthalmologica, 2021
Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data.
Scelsi HF et al.
Human Mutation, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal
Clinical and genetic analysis of Ser341Pro MYOC variant in a Korean family with primary open angle glaucoma.
Moon S et al.
International Journal of Ophthalmology, 2020
A recurrent G367R mutation in MYOC associated with juvenile open angle glaucoma in a large Chinese family.
Yao YH et al.
International Journal of Ophthalmology, 2018
Targeting the ER-autophagy system in the trabecular meshwork to treat glaucoma.
Stothert AR et al.
Experimental Eye Research, 2016
Identification of a novel MYOC mutation in a Chinese family with primary open-angle glaucoma.
Yang Y et al.
Gene, 2015
Ser341Pro MYOC gene mutation in a family with primary open-angle glaucoma.
Wang F et al.
International Journal of Molecular Medicine, 2015
Identification a novel MYOC gene mutation in a Chinese family with juvenile-onset open angle glaucoma.
Zhao X et al.
Molecular Vision, 2010
Molecular diagnostics of genetic eye diseases.
Fan BJ et al.
Clinical Biochemistry, 2006
Systemic Genotype-Phenotype Analysis of MYOC Variants Based on Exome Sequencing and Literature Review.
Li X et al.
Asia-pacific Journal of Ophthalmology (philadelphia, Pa.), 0
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