Associated Papers
Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1.
Cannizzaro IR et al.
International Journal of Molecular Sciences, 2024
39409151 (PubMed )
Supplement: ijms-25-10822-s001.zip › Supplementary_Table_S1.xlsx › Primary_tumor_ACMG_AMP
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
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
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.
Burdon KP et al.
Human Mutation, 2022
A Simple Secretion Assay for Assessing New and Existing Myocilin Variants.
Nakahara E et al.
Current Eye Research, 2022
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2
Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data.
Scelsi HF et al.
Human Mutation, 2021
Structural basis for misfolding in myocilin-associated glaucoma.
Donegan RK et al.
Human Molecular Genetics, 2015
Correction of the disease phenotype of myocilin-causing glaucoma by a natural osmolyte.
Jia LY et al.
Investigative Ophthalmology & Visual Science, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File006.xls › TypeII-
Aggregated myocilin induces russell bodies and causes apoptosis: implications for the pathogenesis of myocilin-caused primary open-angle glaucoma.
Yam GH et al.
The American Journal of Pathology, 2007
A multidomain TIGR/olfactomedin protein family with conserved structural similarity in the N-terminal region and conserved motifs in the C-terminal region.
Green ML et al.
Molecular & Cellular Proteomics : Mcp, 2002
A cellular assay distinguishes normal and mutant TIGR/myocilin protein.
Zhou Z et al.
Human Molecular Genetics, 1999
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations.
Fingert JH et al.
Human Molecular Genetics, 1999
Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)
Alward WL et al.
The New England Journal of Medicine, 1998
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