| Collagen type VIII alpha 2 chain (COL8A2), an important component of the basement membrane of the corneal endothelium, facilitates the malignant development of glioblastoma cells via inducing EMT. | Collagen type VIII alpha 2 chain (COL8A2), an important component of the basement membrane of the corneal endothelium, facilitates the malignant development of glioblastoma cells via inducing EMT.
Cheng YX, Xiao L, Yang YL, Liu XD, Zhou XR, Bu ZF, Cao PC, Wang DK. | 12/25/2021 |
| COL8A2 Regulates the Fate of Corneal Endothelial Cells. | COL8A2 Regulates the Fate of Corneal Endothelial Cells.
Hwang JS, Ma DJ, Choi J, Shin YJ., Free PMC Article | 04/3/2021 |
| Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 and TCF4 gene sequences in a multi-generational family with late-onset Fuchs corneal dystrophy found no evidence for found polymorophisms causing the disease in this specific pedigree. | Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 and TCF4 gene sequences in a multi-generational family with late-onset Fuchs corneal dystrophy.
Tang H, Zhang W, Yan XM, Wang LP, Dong H, Shou T, Lei H, Guo Q., Free PMC Article | 03/4/2017 |
| Peripheral, anterior microcystic corneal edema represents a characteristic aspect of the phenotype associated with the p.(Leu450Trp) substitution in COL8A2, in at least 2 of 3 known affected families worldwide. | Distinct Clinical Phenotype of Corneal Dystrophy Predicts the p.(Leu450Trp) Substitution in COL8A2.
Eghrari AO, Riazuddin SA, Gottsch JD. | 12/17/2016 |
| No mutations were identified in COL8A2, in neither the late-onset cohort nor the early-onset family, suggesting genetic heterogeneity in this Late-onset Fuchs endothelial corneal dystrophy (FECD) family. | Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophy.
Soumittra N, Loganathan SK, Madhavan D, Ramprasad VL, Arokiasamy T, Sumathi S, Karthiyayini T, Rachapalli SR, Kumaramanickavel G, Casey JR, Rajagopal R. | 10/31/2015 |
| mutations in the COL8A2 gene do not contribute to all cases of early-onset early-onset Fuchs' endothelial corneal dystrophy . | Screening of the COL8A2 gene in an Australian family with early-onset Fuchs' endothelial corneal dystrophy.
Kuot A, Mills R, Craig JE, Sharma S, Burdon KP. | 08/16/2014 |
| Variation in the COL8A2, SLC4A11, and ZEB1 genes is present in only a small fraction of African American cases and as such does not appear to significantly contribute to the genetic risk of Fuchs endothelial corneal dystrophy. | Genetic screen of African Americans with Fuchs endothelial corneal dystrophy.
Minear MA, Li YJ, Rimmler J, Balajonda E, Watson S, Allingham RR, Hauser MA, Klintworth GK, Afshari NA, Gregory SG., Free PMC Article | 07/26/2014 |
| Esophageal transcript profiling identified a distinct subset of genes, including COL8A2, in patients with Eosionophilic esophagitis and inherited connective tissue disorders. | High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders.
Abonia JP, Wen T, Stucke EM, Grotjan T, Griffith MS, Kemme KA, Collins MH, Putnam PE, Franciosi JP, von Tiehl KF, Tinkle BT, Marsolo KA, Martin LJ, Ware SM, Rothenberg ME., Free PMC Article | 10/19/2013 |
| Association of central corneal thickness with TCF4 was also significant (p = 6.1x10(-7)), but was abolished with adjustment for FECD grade (p = 0.92). | Differing roles for TCF4 and COL8A2 in central corneal thickness and fuchs endothelial corneal dystrophy.
Igo RP Jr, Kopplin LJ, Joseph P, Truitt B, Fondran J, Bardenstein D, Aldave AJ, Croasdale CR, Price MO, Rosenwasser M, Lass JH, Iyengar SK, FECD Genetics Multi-center Study Group., Free PMC Article | 04/20/2013 |
| Single nucleotide polymorphisms in COL8A2 gene is not associated with central corneal thickness in glaucoma. | Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness.
Hoehn R, Zeller T, Verhoeven VJ, Grus F, Adler M, Wolfs RC, Uitterlinden AG, Castagne R, Schillert A, Klaver CC, Pfeiffer N, Mirshahi A. | 01/12/2013 |
| Report cellular model in which collagen VIII mutations, which clinically result in Fuchs' dystrophy, are associated with abnormal cellular accumulation of collagen VIII. | A cellular model for the investigation of Fuchs' endothelial corneal dystrophy.
Kelliher C, Chakravarti S, Vij N, Mazur S, Stahl PJ, Engler C, Matthaei M, Yu SM, Jun AS., Free PMC Article | 01/21/2012 |
| The purpose of this study is to evaluate COL8A1 and COL8A2 as candidate genes for thin central corneal thickness in human primary open angle glaucoma patients. | Distribution of COL8A2 and COL8A1 gene variants in Caucasian primary open angle glaucoma patients with thin central corneal thickness.
Desronvil T, Logan-Wyatt D, Abdrabou W, Triana M, Jones R, Taheri S, Del Bono E, Pasquale LR, Olivier M, Haines JL, Fan BJ, Wiggs JL., Free PMC Article | 02/26/2011 |
| These data constitute the first report of a heterozygous Q455V mutation of the COL8A2 gene in Korean patients with Fuchs' corneal dystrophy and Q455V may be the causative defect in the development and progression of Korean FECD patients. | Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients.
Mok JW, Kim HS, Joo CK. | 02/5/2011 |
| COL8A2, SLC4A11 genes may not be responsible for Fuchs endothelial corneal dystrophy in patients examined in this study. | Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India.
Hemadevi B, Srinivasan M, Arunkumar J, Prajna NV, Sundaresan P, Hemadevi B, Srinivasan M, Arunkumar J, Prajna NV, Sundaresan P., Free PMC Articles: PMC2834660, PMC2834660 | 06/14/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India.
Hemadevi B, Srinivasan M, Arunkumar J, Prajna NV, Sundaresan P, Hemadevi B, Srinivasan M, Arunkumar J, Prajna NV, Sundaresan P., Free PMC Articles: PMC2834660, PMC2834660 | 04/7/2010 |
| The previously reported mutations in the COL8A2 gene were not found in the 92 samples tested. | Genome-wide linkage scan in fuchs endothelial corneal dystrophy.
Afshari NA, Li YJ, Pericak-Vance MA, Gregory S, Klintworth GK., Free PMC Article | 01/21/2010 |
| Observational study of genotype prevalence. (HuGE Navigator) | Keratoconus is not associated with mutations in COL8A1 and COL8A2.
Aldave AJ, Bourla N, Yellore VS, Rayner SA, Khan MA, Salem AK, Sonmez B, Aldave AJ, Bourla N, Yellore VS, Rayner SA, Khan MA, Salem AK, Sonmez B. | 03/13/2008 |
| description of the phenotype of early-onset Fuchs' endothelial corneal dystrophy in a British family, which is caused by a point mutation (resulting in p.L450W substitution) in COL8A2 | British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene.
Liskova P, Prescott Q, Bhattacharya SS, Tuft SJ., Free PMC Article | 01/21/2010 |
| The absence of pathogenic mutations in COL8A1 and COL8A2 in patients with keratoconus indicates that other genetic factors are involved in the pathogenesis of this corneal ectatic disorder. | Keratoconus is not associated with mutations in COL8A1 and COL8A2.
Aldave AJ, Bourla N, Yellore VS, Rayner SA, Khan MA, Salem AK, Sonmez B, Aldave AJ, Bourla N, Yellore VS, Rayner SA, Khan MA, Salem AK, Sonmez B. | 01/21/2010 |
| The absence of pathogenic mutations identified in the COL8A1 or COL8A2 genes in affected members of 15 pedigrees with familial FECD (Fuchs endothelial corneal dystrophy) indicates that other genetic factors are involved. | No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy.
Aldave AJ, Rayner SA, Salem AK, Yoo GL, Kim BT, Saeedian M, Sonmez B, Yellore VS. | 01/21/2010 |
| Microscopic and electron microscopic examination revealed pathological changes in Descemet's membrane of L450W COL8A2 mutants that were consistent with several-fold increased growth of the extracellular matrix. | Immunohistochemistry and electron microscopy of early-onset fuchs corneal dystrophy in three cases with the same L450W COL8A2 mutation.
Zhang C, Bell WR, Sundin OH, De La Cruz Z, Stark WJ, Green WR, Gottsch JD., Free PMC Article | 01/21/2010 |
| No pathogenic mutations were identified in the COL8A2 gene or in several positional candidate genes in a series of patients, indicating that other genetic factors are involved in the development of this autosomal dominant corneal dystrophy. | No pathogenic mutations identified in the COL8A2 gene or four positional candidate genes in patients with posterior polymorphous corneal dystrophy.
Yellore VS, Rayner SA, Emmert-Buck L, Tabin GC, Raber I, Hannush SB, Stulting RD, Sampat K, Momi R, Principe AH, Aldave AJ. | 01/21/2010 |
| Alpha2(VIII) collagen supported endothelial cell attachment in a dose-dependent manner, with an 18-fold higher affinity for endothelial cells. | Alpha2(VIII) collagen substrata enhance endothelial cell retention under acute shear stress flow via an alpha2beta1 integrin-dependent mechanism: an in vitro and in vivo study.
Turner NJ, Murphy MO, Kielty CM, Shuttleworth CA, Black RA, Humphries MJ, Walker MG, Canfield AE. | 01/21/2010 |
| The R155Q and T502M mutations of COL8A2 may not be the causative defect in the Japanese Fuchs' endothelial corneal dystrophy and posterior polymorphous dystrophy patients examined in this study. | Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy.
Kobayashi A, Fujiki K, Murakami A, Kato T, Chen LZ, Onoe H, Nakayasu K, Sakurai M, Takahashi M, Sugiyama K, Kanai A. | 01/21/2010 |
| A novel pathogenic L450W COL8A2 mutation was identified and its highly distinctive pathology characterized. This indicates that COL8A2 mutations give rise to a rare subtype of FCD (Fuchs corneal dystrophy). | Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy.
Gottsch JD, Sundin OH, Liu SH, Jun AS, Broman KW, Stark WJ, Vito EC, Narang AK, Thompson JM, Magovern M. | 01/21/2010 |