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3.4.2 Gene studies (171)
Showing records 1 to 25
Display all abstracts in classification 3.4.2 Gene studies
Search within classification 3.4.2 Gene studies94937 Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data
Scelsi HF
Human Mutation 2021; 42: 903-946
94491 Exome-based investigation of the genetic basis of human pigmentary glaucoma
van der Heide C
BMC Genomics 2021; 22: 477
94897 Heterozygous variants with ocular phenotype: Missense in domain but truncation out of domain
Li X
Molecular Vision 2021; 27: 309-322
94895 Proteomic analysis of aged and OPTN E50K retina in the development of normal tension glaucoma
Liu X
Human Molecular Genetics 2021; 30: 1030-1044
94483 Mendelian randomization analysis identified genes pleiotropically associated with central corneal thickness
Yang Z
BMC Genomics 2021; 22: 517
94820 Human primary retinal cells as an in-vitro model for investigating defective signalling caused by OPTN mutants associated with glaucoma
Sayyad Z
Neurochemistry International 2021; 148: 105075
94384 Meta-analysis of gene mutations in primary congenital glaucoma patients
Haddad A
European Journal of Ophthalmology 2021; 0: 11206721211016308
94923
Eliseeva N
Molecular Vision 2021; 27: 262-269
94900 Long Noncoding RNA LINC01518 Modulates Proliferation and Migration in TGF-β1-Treated Human Tenon Capsule Fibroblast Cells Through the Regulation of hsa-miR-216b-5p
Kong N
NeuroMolecular Medicine 2022; 24: 88-96
94296 Biallelic variants in are associated with primary open-angle glaucoma and primary angle-closure glaucoma
Li X
British Journal of Ophthalmology 2022; 106: 1710-1715
94464 The role of polymorphisms rs2070744 and rs1799983 eNOS gene in patients with POAG: a systematic review and meta-analysis
Salari N
International Ophthalmology 2021; 41: 2747-2763
94283 Glaucoma Heritability: Molecular Mechanisms of Disease
Zukerman R
Genes 2021; 12:
94967 Overexpression and Activation of αvβ3 Integrin Differentially Affects TGFβ2 Signaling in Human Trabecular Meshwork Cells
Filla MS
Cells 2021; 10:
94622 Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images
Currant H
PLoS Genetics 2021; 17: e1009497
94482 Weill-Marchesani Syndrome, a Rare Presentation of Severe Short Stature with Review of the Literature
Al Motawa MNA
American Journal of Case Reports 2021; 22: e930824
94884 Suggestive evidence of genetic association of -572G > C polymorphism with primary open angle glaucoma in a North Indian Punjabi population
Thakur N
Human immunology 2021; 82: 791-797
94833 miRNAs and Genes Involved in the Interplay between Ocular Hypertension and Primary Open-Angle Glaucoma. Oxidative Stress, Inflammation, and Apoptosis Networks
Raga-Cervera J
Journal of clinical medicine 2021; 10:
94538 Large-scale machine-learning-based phenotyping significantly improves genomic discovery for optic nerve head morphology
Alipanahi B
American Journal of Human Genetics 2021; 108: 1217-1230
94728 Association of the MYOC p.(Gln368Ter) Variant With Glaucoma in a Finnish Population
Liuska PJ
JAMA ophthalmology 2021; 139: 762-768
94564 Mutational analysis of CYP1B1 gene in Iranian pedigrees with glaucoma reveals known and novel mutations
Emamalizadeh B
International Ophthalmology 2021; 41: 3269-3276
94895 Proteomic analysis of aged and OPTN E50K retina in the development of normal tension glaucoma
Wang Q
Human Molecular Genetics 2021; 30: 1030-1044
94833 miRNAs and Genes Involved in the Interplay between Ocular Hypertension and Primary Open-Angle Glaucoma. Oxidative Stress, Inflammation, and Apoptosis Networks
Bolarin JM
Journal of clinical medicine 2021; 10:
94283 Glaucoma Heritability: Molecular Mechanisms of Disease
Harris A
Genes 2021; 12:
94538 Large-scale machine-learning-based phenotyping significantly improves genomic discovery for optic nerve head morphology
Hormozdiari F
American Journal of Human Genetics 2021; 108: 1217-1230
94728 Association of the MYOC p.(Gln368Ter) Variant With Glaucoma in a Finnish Population
Lemmelä S
JAMA ophthalmology 2021; 139: 762-768