| ZNF469 is a profibrotic regulator of extracellular matrix in hepatic stellate cells. | ZNF469 is a profibrotic regulator of extracellular matrix in hepatic stellate cells.
Ariyachet C, Nokkeaw A, Boonkaew B, Tangkijvanich P. | 08/1/2024 |
| Genetic variants in the FOXO1 and ZNF469 genes are associated with keratoconus in Sweden: a case-control study. | Genetic variants in the FOXO1 and ZNF469 genes are associated with keratoconus in Sweden: a case-control study.
Wonneberger W, Sterner B, MacLean U, Claesson M, Johansson LH, Skoog I, Zetterberg M, Zettergren A., Free PMC Article | 02/5/2024 |
| New ZNF469 Mutations in Spanish Siblings With Brittle Cornea Syndrome. | New ZNF469 Mutations in Spanish Siblings With Brittle Cornea Syndrome.
García de Oteyza G, Fernández Engroba J, Charoenrook V. | 06/9/2023 |
| More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome. | More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.
Dhooge T, Van Damme T, Syx D, Mosquera LM, Nampoothiri S, Radhakrishnan A, Simsek-Kiper PO, Utine GE, Bonduelle M, Migeotte I, Essawi O, Ceylaner S, Al Kindy A, Tinkle B, Symoens S, Malfait F. | 01/29/2022 |
| CXL may be associated with the development of corneal perforation in particular at-risk individuals with keratoconus. Identifying clinical and genetic risk factors, including screening of ZNF469 and PRDM5, may be useful in the prevention of significant complications after CXL. | Corneal Perforation After Corneal Cross-Linking in Keratoconus Associated With Potentially Pathogenic ZNF469 Mutations.
Zhang W, Margines JB, Jacobs DS, Rabinowitz YS, Hanser EM, Chauhan T, Chung D, Bykhovskaya Y, Gaster RN, Aldave AJ., Free PMC Article | 08/24/2019 |
| This is the first report of a ZNF469 homozygous mutation causing a Brittle cornea syndrome phenotype in a consanguineous Pakistani family. | Identification of a Novel ZNF469 Mutation in a Pakistani Family With Brittle Cornea Syndrome.
Micheal S, Siddiqui SN, Zafar SN, Gabriëla Niewold IT, Khan MI, Bergen AAB. | 06/22/2019 |
| Linc-ZNF469-3 promotes lung metastasis of TNBC through miR-574-5p-ZEB1 signaling axis. | A novel long non-coding RNA linc-ZNF469-3 promotes lung metastasis through miR-574-5p-ZEB1 axis in triple negative breast cancer.
Wang PS, Chou CH, Lin CH, Yao YC, Cheng HC, Li HY, Chuang YC, Yang CN, Ger LP, Chen YC, Lin FC, Shen TL, Hsiao M, Lu PJ. | 03/2/2019 |
| genotype frequencies did not differ between the sporadic or familial keratoconus cases | Polymorphism rs13334190 in zinc finger protein 469 (ZNF469) is not a risk factor for keratoconus in a Saudi cohort.
Kalantan H, Kondkar AA, Sultan T, Azad TA, Alsabaani NA, AlQahtani MA, Almummar A, Liu Y, Abu-Amero KK., Free PMC Article | 07/21/2018 |
| ZNF469 has a pathogenic role in Chinese patients with keratoconus. | Identification of seven novel ZNF469 mutations in keratoconus patients in a Han Chinese population.
Yu X, Chen B, Zhang X, Shentu X., Free PMC Article | 04/14/2018 |
| New detected ZNF 469 P873T and Q2188H heterozygote coding variants in isolated advance keratoconus patients may be associated with the disease pathogenesis. | Novel Zinc Finger Protein Gene 469 (ZNF469) Variants in Advanced Keratoconus.
Yildiz E, Bardak H, Gunay M, Bardak Y, Imamoglu S, Ozbas H, Bagci O. | 01/13/2018 |
| Rare variants in ZNF469 do not contribute to keratoconus susceptibility and do not account for the association at rs9938149. | Rare, Potentially Pathogenic Variants in ZNF469 Are Not Enriched in Keratoconus in a Large Australian Cohort of European Descent.
Lucas SEM, Zhou T, Blackburn NB, Mills RA, Ellis J, Leo P, Souzeau E, Ridge B, Charlesworth JC, Brown MA, Lindsay R, Craig JE, Burdon KP. | 12/16/2017 |
| we have not found a significant enrichment of sequence variants in ZNF469 in Polish patients with keratoconus (KTCN). High prevalence of ZNF469 variants identified in our KTCN group is typical for a common genetic variation observed in general population. | Evidence against ZNF469 being causative for keratoconus in Polish patients.
Karolak JA, Gambin T, Rydzanicz M, Szaflik JP, Polakowski P, Frajdenberg A, Mrugacz M, Podfigurna-Musielak M, Stankiewicz P, Gajecka M. | 12/17/2016 |
| Results show that enrichment of rare potentially pathogenic alleles in ZNF469 in 12.5% of keratoconus patients represents a significant mutational load and highlights ZNF469 as the most significant genetic factor responsible for keratoconus identified. | Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.
Lechner J, Porter LF, Rice A, Vitart V, Armstrong DJ, Schorderet DF, Munier FL, Wright AF, Inglehearn CF, Black GC, Simpson DA, Manson F, Willoughby CE., Free PMC Article | 06/6/2015 |
| The presence of heterozygous loss-of-function alleles in the ZNF469 gene did not cause keratoconus in the individuals examined. | Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus.
Davidson AE, Borasio E, Liskova P, Khan AO, Hassan H, Cheetham ME, Plagnol V, Alkuraya FS, Tuft SJ, Hardcastle AJ. | 04/11/2015 |
| Rare missense mutations in ZNF469, predicted to be pathogenic, occurred heterozygously, at a frequency of 23% in a keratoconus population. | Mutations in the zinc finger protein gene, ZNF469, contribute to the pathogenesis of keratoconus.
Vincent AL, Jordan CA, Cadzow MJ, Merriman TR, McGhee CN. | 11/8/2014 |
| ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components. | ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.
Rohrbach M, Spencer HL, Porter LF, Burkitt-Wright EM, Bürer C, Janecke A, Bakshi M, Sillence D, Al-Hussain H, Baumgartner M, Steinmann B, Black GC, Manson FD, Giunta C., Free PMC Article | 01/25/2014 |
| We document a novel homozygous ZNF469 mutation in an adult with corneal fragility but lacking clinical evidence for extraocular manifestations. | Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation.
Khan AO, Aldahmesh MA, Alkuraya FS. | 03/30/2013 |
| A novel homozygous 14 bp duplication in exon 2 of ZNF469 (c.8817_8830dup) was uncovered by direct sequencing | Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype.
Al-Owain M, Al-Dosari MS, Sunker A, Shuaib T, Alkuraya FS. | 01/26/2013 |
| Mutations in COL5A1 gene is 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 |
| ZNF469 and PRDM5, two genes that when mutated cause brittle cornea syndrome, participate in the same regulatory pathway. | Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.
Burkitt Wright EMM, Spencer HL, Daly SB, Manson FDC, Zeef LAH, Urquhart J, Zoppi N, Bonshek R, Tosounidis I, Mohan M, Madden C, Dodds A, Chandler KE, Banka S, Au L, Clayton-Smith J, Khan N, Biesecker LG, Wilson M, Rohrbach M, Colombi M, Giunta C, Black GCM., Free PMC Article | 08/20/2011 |
| ZNF469 mutation may predispose to childhood blue sclera without BCS only in certain individuals, depending on other genetic and/or environmental conditions | Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X).
Khan AO, Aldahmesh MA, Mohamed JN, Alkuraya FS. | 10/30/2010 |
| Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesNew loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8.
Vitart V, Bencić G, Hayward C, Skunca Herman J, Huffman J, Campbell S, Bućan K, Navarro P, Gunjaca G, Marin J, Zgaga L, Kolcić I, Polasek O, Kirin M, Hastie ND, Wilson JF, Rudan I, Campbell H, Vatavuk Z, Fleck B, Wright A. Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness.
Lu Y, Dimasi DP, Hysi PG, Hewitt AW, Burdon KP, Toh T, Ruddle JB, Li YJ, Mitchell P, Healey PR, Montgomery GW, Hansell N, Spector TD, Martin NG, Young TL, Hammond CJ, Macgregor S, Craig JE, Mackey DA. | 06/30/2010 |
| The results confirm that BCS (brittle cornea syndrome) is associated with mutations in ZNF469. | Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene.
Christensen AE, Knappskog PM, Midtbø M, Gjesdal CG, Mengel-From J, Morling N, Rødahl E, Boman H. | 02/8/2010 |
| 30% homology to a number of collagens suggests that ZNF469 could act as a transcription factor involved in the synthesis and/or organization of collagen fibers. | Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome.
Abu A, Frydman M, Marek D, Pras E, Nir U, Reznik-Wolf H, Pras E., Free PMC Article | 01/21/2010 |