Research progress on human genes involved in the pathogenesis of glaucoma (Review).

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Research progress on human genes involved in the pathogenesis of glaucoma (Review). is …
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review articleQ7318358
scholarly articleQ13442814

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P356DOI10.3892/MMR.2018.9071
P932PMC publication ID6059695
P698PubMed publication ID29845210

P2093author name stringYao Chen
Feng Gao
Peng Sun
Hong-Wei Wang
Wen Zhang
Li-Ping Jiang
Hui-Ping Wu
P2860cites workVariants in ASB10 are associated with open-angle glaucomaQ24299353
Evidence for RPGRIP1 gene as risk factor for primary open angle glaucomaQ24336657
Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 regionQ24538831
Identification of a novel mutation in the NTF4 gene that causes primary open-angle glaucoma in a Chinese populationQ24628693
No evidence of association of heterozygous NTF4 mutations in patients with primary open-angle glaucomaQ24632719
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier geneQ24633005
Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucomaQ24657994
Global variation in copy number in the human genomeQ24658083
Novel LMX1B mutation in familial nail-patella syndrome with variable expression of open angle glaucomaQ24658359
The number of people with glaucoma worldwide in 2010 and 2020Q24679554
Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucomaQ24681808
CYP1B1-mediated Pathobiology of Primary Congenital GlaucomaQ26753167
The Role of the IL-20 Subfamily in GlaucomaQ26768258
An Updated Review on the Genetics of Primary Open Angle GlaucomaQ26774468
Neue pathogenetische Erkenntnisse zum Pseudoexfoliations-Syndrom/GlaukomQ59383664
Myocilin gene implicated in primary congenital glaucomaQ60620149
Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucomaQ61969093
Anterior chamber depth and primary angle-closure glaucoma. I. An epidemiologic study in Greenland EskimosQ67311854
Localization of myocilin/trabecular meshwork--inducible glucocorticoid response protein in the human eyeQ73535447
Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysisQ74268817
Myocilin is associated with mitochondria in human trabecular meshwork cellsQ77537688
Association of blood pressure status with the optic disk structure in non-glaucoma subjects: the Thessaloniki eye studyQ79826244
Cyp1b1 protein in the mouse eye during development: an immunohistochemical studyQ79837061
Risk factors for open-angle glaucoma in a Japanese population: the Tajimi StudyQ79860922
OPTN gene: profile of patients with glaucoma from IndiaQ80052191
Risk factors for incident open-angle glaucoma: the Barbados Eye StudiesQ80608143
Intracellular sequestration of hetero-oligomers formed by wild-type and glaucoma-causing myocilin mutantsQ80795418
No association between Helicobacter pylori infection or CagA-bearing strains and glaucomaQ81089393
[Mutations and polymorphisms in the genes for myocilin and optineur in as the risk factors of primary open-angle glaucoma]Q81634359
Primary role of CYP1B1 in Indian juvenile-onset POAG patientsQ83317754
Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucomaQ84353447
GlaucomaQ86936973
Cilioretinal artery occlusion in a young patient with flammer syndrome and increased retinal venous pressureQ87167030
Corticosteroid-induced ocular hypertension and glaucoma: a brief review and update of the literatureQ95796955
Screening of the LTBP2 gene in a north Indian population with primary congenital glaucomaQ95800733
Connective tissue growth factor causes glaucoma by modifying the actin cytoskeleton of the trabecular meshwork.Q54514331
The transcription factor gene FOXC1 exhibits a limited role in primary congenital glaucoma.Q54519850
[Polymorphisms of myocilin and optineurin in primary open angle glaucoma patients].Q54602920
Evaluation of Optineurin as a candidate gene in Indian patients with primary open angle glaucoma.Q54638239
SNPs and interaction analyses of myocilin, optineurin, and apolipoprotein E in primary open angle glaucoma patients.Q54644696
GlaucomaQ56112749
Collagen-related genes influence the glaucoma risk factor, central corneal thicknessQ56880538
Identification of a Novel Locus for Autosomal Dominant Primary Open Angle Glaucoma on 4q35.1-q35.2Q57206634
No Association Between Variations in the WDR36 Gene and Primary Open-Angle GlaucomaQ57252108
Primary open-angle glaucomaQ57728691
Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31Q57785250
Investigation of the association between 677C>T and 1298A>C 5,10-methylenetetra- hydrofolate reductase gene polymorphisms and normal-tension glaucomaQ58337125
Assessing the Association of Mitochondrial Genetic Variation With Primary Open-Angle Glaucoma Using Gene-Set AnalysesQ37292397
The genetics of primary open-angle glaucoma: a reviewQ37343118
Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypesQ37350846
Expression of Mutant Myocilin Induces Abnormal Intracellular Accumulation of Selected Extracellular Matrix Proteins in the Trabecular MeshworkQ37404450
Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucomaQ37405106
Investigation of the association between CALCRL polymorphisms and primary angle closure glaucomaQ37412925
In silico analysis of the molecular machinery underlying aqueous humor production: potential implications for glaucomaQ37420453
Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma.Q37427218
Identification of Mutations in Myocilin and Beta-1,4-galactosyltransferase 3 Genes in a Chinese Family with Primary Open-angle GlaucomaQ37487616
Cyp1b1 Regulates Ocular Fissure Closure Through a Retinoic Acid-Independent PathwayQ37641864
Interleukin-20 receptor expression in the trabecular meshwork and its implication in glaucomaQ37710654
The SPARC-related modular calcium binding protein 2 (SMOC2) gene polymorphism in primary glaucoma: a case-control studyQ37722737
Genetic bases for glaucomaQ37739743
Glaucoma history and risk factorsQ37740251
Mitochondrial dysfunction in glaucoma and emerging bioenergetic therapies.Q37778419
Primary open-angle glaucoma genes.Q37874443
Primary Congenital Glaucoma and the Involvement of CYP1B1.Q37875684
Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucomaQ37920006
The role of TGF-β in the pathogenesis of primary open-angle glaucoma.Q37958629
Mitochondrial dysfunction in glaucoma: understanding genetic influences.Q37964424
The prevalence of primary angle closure glaucoma in European derived populations: a systematic reviewQ38015239
Glaucoma: an extension of various chronic neurodegenerative disordersQ38080449
Progress in understanding the association between high myopia and primary open-angle glaucomaQ38120831
Population-based glaucoma prevalence studies in AsiansQ38212518
Global prevalence of glaucoma and projections of glaucoma burden through 2040: a systematic review and meta-analysis.Q38224185
Exploring the potential mechanism and screening small molecule drugs for glaucoma by using bioinformatics approachQ38309541
The interactions of genes, age, and environment in glaucoma pathogenesis.Q38439504
Accumulation of mutant myocilins in ER leads to ER stress and potential cytotoxicity in human trabecular meshwork cellsQ38518594
Defects in autophagy caused by glaucoma-associated mutations in optineurin.Q38572655
Candidate genes involved in the susceptibility of primary open angle glaucomaQ38654042
Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucomaQ38723042
LADD syndrome with glaucoma is caused by a novel geneQ38841443
Genetic variants associated with primary open angle glaucoma in Indian populationQ39010214
Protein-Remodeling Factors As Potential Therapeutics for Neurodegenerative Disease.Q39178504
Endoplasmic Reticulum Stress and Oxidative Stress: A Vicious Nexus Implicated in Bowel Disease PathophysiologyQ39221516
Major review: Molecular genetics of primary open-angle glaucomaQ39303267
Current concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatmentQ27015027
Genetic, Biochemical and Clinical Insights into Primary Congenital GlaucomaQ27022047
Oral microbiome link to neurodegeneration in glaucomaQ27316016
Glaucoma-associated WDR36 variants encode functional defects in a yeast model systemQ27939795
Adult-onset primary open-angle glaucoma caused by mutations in optineurinQ28217964
Schlemm's canal is a unique vessel with a combination of blood vascular and lymphatic phenotypes that forms by a novel developmental processQ28244469
Oral treatment targeting the unfolded protein response prevents neurodegeneration and clinical disease in prion-infected miceQ28300013
Interaction between two glaucoma genes, optineurin and myocilinQ28573610
The Role of Unfolded Protein Response and Mitogen-Activated Protein Kinase Signaling in Neurodegenerative Diseases with Special Focus on Prion DiseasesQ30234448
Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle GlaucomaQ30406706
Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutantQ30493294
Cytochrome P450 1B1 gene mutations in Japanese patients with primary congenital glaucoma(1).Q32143559
Genetic contributions to glaucoma: heritability of intraocular pressure, retinal nerve fiber layer thickness, and optic disc morphologyQ33291717
Heritability of anterior chamber depth as an intermediate phenotype of angle-closure in Chinese: the Guangzhou Twin Eye StudyQ33313062
Intraocular pressure spikes in keratectasia, axial myopia, and glaucomaQ33373641
Overexpression of myocilin in the Drosophila eye activates the unfolded protein response: implications for glaucomaQ33400356
VAV2 and VAV3 as candidate disease genes for spontaneous glaucoma in mice and humansQ33530115
Prevalence of open-angle glaucoma among adults in the United StatesQ33557283
Association of eNOS and HSP70 gene polymorphisms with glaucoma in Pakistani cohortsQ33586390
Associations between matrix metalloproteinase gene polymorphisms and glaucoma susceptibility: a meta-analysisQ33592640
Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucomaQ33610720
Association of IL1A and IL1B loci with primary open angle glaucomaQ33611297
Recent Insights into the Role of Unfolded Protein Response in ER Stress in Health and DiseaseQ33653691
Analysis of microsatellite polymorphisms within the GLC1F locus in Japanese patients with normal tension glaucoma.Q33740956
Identification and characterization of variants and a novel 4 bp deletion in the regulatory region of SIX6, a risk factor for primary open-angle glaucomaQ33906989
Genes of the unfolded protein response pathway harbor risk alleles for primary open angle glaucomaQ33926936
Myocilin and glaucoma: A TIGR by the tail?Q33971804
Primary angle-closure glaucoma. Inheritance and environmentQ33972440
Datgan, a reusable software system for facile interrogation and visualization of complex transcription profiling dataQ34001885
Association of a polymorphism in the BIRC6 gene with pseudoexfoliative glaucoma.Q34041829
Molecular genetics of primary congenital glaucomaQ34057605
Issues in the epidemiology and population-based screening of primary angle-closure glaucomaQ36130132
A novel MYOC heterozygous mutation identified in a Chinese Uygur pedigree with primary open-angle glaucoma.Q36146045
A cross-ethnicity investigation of genes previously implicated in primary angle closure glaucoma.Q36194397
P16INK4a Upregulation Mediated by SIX6 Defines Retinal Ganglion Cell Pathogenesis in GlaucomaQ36289322
FOXC1 modulates MYOC secretion through regulation of the exocytic proteins RAB3GAP1, RAB3GAP2 and SNAP25.Q36390833
Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucomaQ36515582
Drug-induced acute angle closure glaucomaQ36736054
Plasminogen activator inhibitor-1 4G/5G gene polymorphism and primary open-angle glaucomaQ36744475
The genetic mechanisms of primary angle closure glaucoma.Q36750363
Screening of the LTBP2 gene in 214 Chinese sporadic CYP1B1-negative patients with primary congenital glaucomaQ36948789
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconusQ37037658
Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivityQ37042312
Ankyrin repeat and suppressor of cytokine signaling box containing protein-10 is associated with ubiquitin-mediated degradation pathways in trabecular meshwork cellsQ37049087
Multiple gene polymorphisms analysis revealed a different profile of genetic polymorphisms of primary open-angle glaucoma in northern ChineseQ37054960
Is Estrogen a Therapeutic Target for Glaucoma?Q37059521
Pro370Leu mutant myocilin impairs mitochondrial functions in human trabecular meshwork cells.Q37166653
Null mutations in LTBP2 cause primary congenital glaucomaQ37189121
Diabetes mellitus as a risk factor for open-angle glaucoma: a systematic review and meta-analysisQ34066154
The effect of caffeine on intraocular pressure: a systematic review and meta-analysisQ34131071
Vasospasm, its role in the pathogenesis of diseases with particular reference to the eye.Q34207821
MYOC and FOXC1 gene analysis in primary congenital glaucomaQ34208364
Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11Q34387769
Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1.Q34389060
Identification of a gene that causes primary open angle glaucoma.Q34414141
Proteomics implicates peptidyl arginine deiminase 2 and optic nerve citrullination in glaucoma pathogenesisQ34530323
Glaucoma databaseQ34602975
Proteomics reveal Cochlin deposits associated with glaucomatous trabecular meshworkQ34698962
Association between primary open-angle glaucoma and WDR36 DNA sequence variants in JapaneseQ34706628
Hypothesis-independent pathway analysis implicates GABA and acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucomaQ34754791
Relationship between intraocular pressure and primary open angle glaucoma among white and black Americans. The Baltimore Eye SurveyQ34803599
Copy number variations on chromosome 12q14 in patients with normal tension glaucomaQ34994800
ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucomaQ35112777
Primary Open-Angle Glaucoma in Blacks: A ReviewQ35126783
TNF-alpha signaling in glaucomatous neurodegenerationQ35147990
The pathophysiology and treatment of glaucoma: a reviewQ35168230
The association of hepatocyte growth factor (HGF) gene with primary angle closure glaucoma in the Nepalese population.Q35189329
Analysis of the expression and polymorphism of APOE, HSP, BDNF, and GRIN2B genes associated with the neurodegeneration process in the pathogenesis of primary open angle glaucomaQ35373186
WDR36 variants in East Indian primary open-angle glaucoma patientsQ35410723
Reproductive factors and NOS3 variant interactions in primary open-angle glaucoma.Q35410740
Copy number variations and primary open-angle glaucomaQ35519005
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucomaQ35569618
Expression of caveolin in trabecular meshwork cells and its possible implication in pathogenesis of primary open angle glaucomaQ35576527
LOXL1 gene variants and their association with pseudoexfoliation glaucoma (XFG) in Spanish patients.Q35759626
Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc MorphologyQ35780161
Polymorphism in the TNF-α(-863) locus associated with reduced risk of primary open angle glaucoma.Q35883301
Unaltered myocilin expression in the blood of primary open angle glaucoma patientsQ35919067
Genetic association and stress mediated down-regulation in trabecular meshwork implicates MPP7 as a novel candidate gene in primary open angle glaucoma.Q35965455
A Possible Role for LTBP2 in the Etiology of Primary Angle Closure GlaucomaQ36056614
Evaluation of NTF4 as a causative gene for primary open-angle glaucoma.Q36099731
An examination of the hypothesis that intraocular pressure elevation episodes can have prognostic significance in glaucoma suspectsQ36114376
A Common Variant in MIR182 Is Associated With Primary Open-Angle Glaucoma in the NEIGHBORHOOD ConsortiumQ39477976
Five-year incidence of open-angle glaucoma: the visual impairment projectQ39604476
Risk factors associated with the incidence of open-angle glaucoma: the visual impairment projectQ39658241
Clinical evidence in concurrence of retinitis pigmentosa and glaucoma.Q39753877
Prevalence and clinical characteristics of glaucoma in adult Chinese: a population-based study in Liwan District, GuangzhouQ39760207
Anterior chamber depth and chamber angle and their associations with ocular and general parameters: the Beijing Eye StudyQ39838643
Primary angle-closure glaucoma. Oculometry, epidemiology, and genetics in a high risk populationQ39992580
OPA1 increases the risk of normal but not high tension glaucomaQ40061826
Identification and functional characterization of a novel MYOC mutation in two primary open angle glaucoma families from The Netherlands.Q40062595
Obstructive sleep apnea and increased risk of glaucoma: a population-based matched-cohort study.Q40106303
The epidemiology of open-angle glaucoma: a reviewQ40154846
Reversal of mutant myocilin non-secretion and cell killing: implications for glaucomaQ40569319
Polymorphism of CYP46A1 and PPARγ2 Genes in Risk Prediction of Primary Open Angle Glaucoma Among North Indian PopulationQ40641339
Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humorQ40832933
Anterior chamber depth and primary angle-closure glaucoma. II. A genetic studyQ41528995
Gene expression profiling of TGFbeta2- and/or BMP7-treated trabecular meshwork cells: Identification of Smad7 as a critical inhibitor of TGF-beta2 signaling.Q41595360
Recent advances in molecular genetics of glaucomasQ41595926
Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patientsQ41767449
Predictive factors for open-angle glaucoma among patients with ocular hypertension in the European Glaucoma Prevention StudyQ42601956
The role of the 148 Asp/Glu polymorphism of the APE1 gene in the development and progression of primary open angle glaucoma development in the Polish populationQ42635197
Contribution of CYP1B1 mutations and founder effect to primary congenital glaucoma in MexicoQ42651979
CRISPR-Cas9-based treatment of myocilin-associated glaucomaQ42653635
Genomic organization of the human myocilin gene (MYOC) responsible for primary open angle glaucoma (GLC1A).Q42671610
Using the Utah Population Database to assess familial risk of primary open angle glaucomaQ42676161
The Ocular Hypertension Treatment Study: baseline factors that predict the onset of primary open-angle glaucoma.Q42677806
Distribution of myocilin, a glaucoma gene product, in human corneal fibroblastsQ44504287
Primary open-angle glaucoma in 2 monozygotic twin pairsQ44611167
Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucomaQ45158780
Glaucoma, Stem Cells, and Gene Therapy: Where Are We Now?Q45871232
Plasma homocysteine, MTHFR gene mutation, and open-angle glaucomaQ46164279
The prevalence of open-angle glaucoma among blacks and whites 73 years and older: the Salisbury Eye Evaluation Glaucoma StudyQ46247293
Analysis of myocilin mutations in 1703 glaucoma patients from five different populationsQ46636264
Gene structure and properties of TIGR, an olfactomedin-related glycoprotein cloned from glucocorticoid-induced trabecular meshwork cellsQ46769376
Extended association study of PLEKHA7 and COL11A1 with primary angle closure glaucoma in a Han Chinese population.Q46771790
Variants in the PRPF8 Gene are Associated with Glaucoma.Q48127853
Identification of TP53BP2 as a Novel Candidate Gene for Primary Open Angle Glaucoma by Whole Exome Sequencing in a Large Multiplex Family.Q48328499
Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucomaQ48574328
Intraocular pressure over the clinical range of blood pressure: blue mountains eye study findings.Q50483714
CYP1B1 and MYOC Mutations in Vietnamese Primary Congenital Glaucoma Patients.Q50550362
Screening glaucoma genes in adult glaucoma suggests a multiallelic contribution of CYP1B1 to open-angle glaucoma phenotypes.Q51000207
Expression of CXCL6 and BBS5 that may be glaucoma relevant genes is regulated by PITX2.Q51573930
Increased expression of serum amyloid A in glaucoma and its effect on intraocular pressure.Q51575878
Incidence of open-angle glaucoma in a general elderly population: the Rotterdam Study.Q51968472
The role of TIGR and OPTN in Finnish glaucoma families: a clinical and molecular genetic study.Q53140888
No Evidence of Association of Heterozygous Galactosylceramidase Deletion With Normal-Tension Glaucoma in a Korean Population.Q53219594
Migraine and tension headache in high-pressure and normal-pressure glaucoma.Q53339629
Risk factors for the development and severity of glaucoma in the pigment dispersion syndrome.Q54105186
[An epidemiologic study of glaucoma in Shunyi County, Beijing]Q54113354
Association between genetic variants associated with vertical cup-to-disc ratio and phenotypic features of primary open-angle glaucoma.Q54309994
Serum levels and H/L gene polymorphism of mannose-binding lectin in primary open angle glaucoma.Q54324076
Anterior segment abnormalities and angle-closure glaucoma in a family with a mutation in the BEST1 gene and Best vitelliform macular dystrophy.Q54378997
P275copyright licenseCreative Commons Attribution-NonCommercial-NoDerivativesQ6937225
P433issue1
P407language of work or nameEnglishQ1860
P921main subjectglaucomaQ159701
genetic predisposition to diseaseQ64843122
research progressQ122351028
P5008on focus list of Wikimedia projectScienceSourceQ55439927
P304page(s)656-674
P577publication date2018-05-23
2018-07-01
P1433published inMolecular Medicine ReportsQ26842180
P1476titleResearch progress on human genes involved in the pathogenesis of glaucoma (Review).
P478volume18

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cites work (P2860)
Q92716024Associations between TLR4 Polymorphisms and Open Angle Glaucoma: A Meta-Analysis
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