| The Role of Functional Polymorphisms in the Extracellular Matrix Modulation-Related Genes on Dupuytren's Contracture. | The Role of Functional Polymorphisms in the Extracellular Matrix Modulation-Related Genes on Dupuytren's Contracture.
Samulenas G, Insodaite R, Kunceviciene E, Poceviciute R, Masionyte L, Zitkeviciute U, Pilipaityte L, Smalinskiene A., Free PMC Article | 07/2/2022 |
| Macular corneal dystrophy related to novel mutations of CHST6 in a Chinese family and clinical observation after penetrating keratoplasty. | Macular corneal dystrophy related to novel mutations of CHST6 in a Chinese family and clinical observation after penetrating keratoplasty.
Li D, Tian L, Wang X, Chen M., Free PMC Article | 05/21/2022 |
| Association of macular corneal dystrophy with excessive cell senescence and apoptosis induced by the novel mutant CHST6. | Association of macular corneal dystrophy with excessive cell senescence and apoptosis induced by the novel mutant CHST6.
Hao XD, Liu YN, Hu SH, Pan XJ, Chen P. | 02/12/2022 |
| CHST6 mutations identified in Iranian MCD patients and CHST6 mutations reported worldwide identify targets for gene editing approaches including the CRISPR/Cas system. | CHST6 mutations identified in Iranian MCD patients and CHST6 mutations reported worldwide identify targets for gene editing approaches including the CRISPR/Cas system.
Safari I, Baradaran-Rafii A, Issazadeh-Navikas S, Elahi E. | 07/31/2021 |
| vast majority of variants likely to be protein-damaging | A comprehensive evaluation of 181 reported CHST6 variants in patients with macular corneal dystrophy.
Zhang J, Wu D, Li Y, Fan Y, Dai Y, Xu J., Free PMC Article | 04/18/2020 |
| This is the first molecular analysis of TGFBI and CHST6 in Turkish patients with different types of corneal dystrophies. | Genetic analysis of CHST6 and TGFBI in Turkish patients with corneal dystrophies: Five novel variations in CHST6.
Yaylacioglu Tuncay F, Kayman Kurekci G, Guntekin Ergun S, Pasaoglu OT, Akata RF, Dincer PR., Free PMC Article | 02/3/2018 |
| E71Q mutation results in a non-conservative amino acid change in a highly conserved functional domain of the human CHST6 that is essential for enzyme activity as the cause of Macular corneal dystrophy. | Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family.
Carstens N, Williams S, Goolam S, Carmichael T, Cheung MS, Büchmann-Møller S, Sultan M, Staedtler F, Zou C, Swart P, Rice DS, Lacoste A, Paes K, Ramsay M., Free PMC Article | 05/6/2017 |
| Three novel and six previously reported disease-causing CHST6 mutations were identified in Korean patients with macular corneal dystrophy. | Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations.
Park SH, Ahn YJ, Chae H, Kim Y, Kim MS, Kim M., Free PMC Article | 06/28/2016 |
| Homozygous or compound heterozygous CHST6 mutations were identified in all cases, including two novel mutations, c.13C>T; p.(Arg5Cys) and c.289C>T; p.(Arg97Cys). | Macular corneal dystrophy and associated corneal thinning.
Dudakova L, Palos M, Svobodova M, Bydzovsky J, Huna L, Jirsova K, Hardcastle AJ, Tuft SJ, Liskova P., Free PMC Article | 04/18/2015 |
| This novel gene mutation expands the mutation spectrum of the CHST6 gene and contributes to the study of molecular pathogenesis of corneal dystrophy. | A case of Korean patient with macular corneal dystrophy associated with novel mutation in the CHST6 gene.
Lee YK, Chang DJ, Chung SK., Free PMC Article | 04/18/2015 |
| Genetic mutation heterogeneity was revealed. No phenotype heterogeneity was revealed among patients with in vivo corneal morphology assessment or histological analysis. | Phenotype and genotype analysis in patients with macular corneal dystrophy.
Nowinska AK, Wylegala E, Teper S, Wróblewska-Czajka E, Aragona P, Roszkowska AM, Micali A, Pisani A, Puzzolo D. | 03/7/2015 |
| This study improves the knowledge of the genetic features of Mexican patients with corneal stromal dystrophies by identifying mutations in the TGFBI, CHST6, and GSN genes. | TGFBI, CHST6, and GSN gene analysis in Mexican patients with stromal corneal dystrophies.
Gonzalez-Rodriguez J, Ramirez-Miranda A, Hernandez-Da Mota SE, Zenteno JC. | 01/10/2015 |
| Macular corneal dystrophy (MCD) may result from other changes in the regulatory elements of CHST6 or from genetic heterogeneity. | Molecular genetic analysis of macular corneal dystrophy patients from North India.
Paliwal P, Sharma A, Tandon R, Sharma N, Titiyal JS, Sen S, Vajpayee RB. | 09/22/2012 |
| analysis of pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies | Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies.
Huo YN, Yao YF, Yu P., Free PMC Article | 01/7/2012 |
| CHST6 gene sequencing revealed 2 heterozygous mutations in case 1, a p.Arg211Gln and a novel mutation of p.Arg177Gly and a novel homozygous mutation of p.Pro186Arg in case 2. | Novel CHST6 gene mutations in 2 unrelated cases of macular corneal dystrophy.
Patel DA, Harocopos GJ, Chang SH, Vora SC, Lubniewski AJ, Huang AJ., Free PMC Article | 07/16/2011 |
| CHST6 mutations may be responsible for the pathogenesis of macular corneal dystrophy (MCD) in Chinese patients. | Mutation analysis of CHST6 gene in Chinese patients with macular corneal dystrophy.
Liu Z, Tian X, Iida N, Fujiki K, Xie P, Wang W, Ma Z, Kanai A, Murakami A. | 10/4/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.
Dastani Z, Pajukanta P, Marcil M, Rudzicz N, Ruel I, Bailey SD, Lee JC, Lemire M, Faith J, Platko J, Rioux J, Hudson TJ, Gaudet D, Engert JC, Genest J., Free PMC Article | 12/2/2009 |
| The novel compound heterozygous mutations may contribute to the loss of CHST6 function, which induced the abnormal metabolism of keratan sulfate (KS) that deposited in the corneal stroma. | Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6.
Dang X, Zhu Q, Wang L, Su H, Lin H, Zhou N, Liang T, Wang Z, Huang S, Ren Q, Qi Y., Free PMC Article | 01/21/2010 |
| study identified seven novel and three previously reported CHST6 mutations in our panel consisting of 20 Iranian macular corneal dystrophy patients from 12 families | Novel mutations of CHST6 in Iranian patients with macular corneal dystrophy.
Birgani SA, Salehi Z, Houshmand M, Mohamadi MJ, Promehr LA, Mozafarzadeh Z., Free PMC Article | 01/21/2010 |
| in macular corneal dystrophy (MCD) patients, there were no simple correlations between immunophenotypes and specific mutations in CHST6, suggesting that factors other than CHST6 mutations may be contributing to the immunophenotypes in MCD | Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6.
Sultana A, Klintworth GK, Thonar EJ, Vemuganti GK, Kannabiran C., Free PMC Article | 01/21/2010 |
| GlcNAc6ST-1 transcription is coordinated with the NF-kappaB/GATA-3 axis, which is known to figure heavily in Th2 cell differentiation | Significance of NF-kappaB/GATA axis in tumor necrosis factor-alpha-induced expression of 6-sulfated cell recognition glycans in human T-lymphocytes.
Chen GY, Sakuma K, Kannagi R., Free PMC Article | 01/21/2010 |
| Our study shows the wide range of diagnostic findings and therapeutical options in patients suffering from macular corneal dystrophy depending on the genotype. | Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options.
Gruenauer-Kloevekorn C, Braeutigam S, Heinritz W, Froster UG, Duncker GI. | 01/21/2010 |
| study describes four CHST6 missense mutations present in seven of eight Czech macular corneal dystrophy (MCD) families of which the c.494G>A (p.C165Y) was novel; findings support a common founder effect for MCD in the Czech Republic | Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation.
Liskova P, Veraitch B, Jirsova K, Filipec M, Neuwirth A, Ebenezer ND, Hysi PG, Hardcastle AJ, Tuft SJ, Bhattacharya SS. | 01/21/2010 |
| Novel homozygous missense mutation involving a highly conserved amino acid (c.518T > C; Leu173Pro). | An unusual presentation of macular corneal dystrophy associated with uniparental isodisomy and a novel Leu173Pro mutation.
Yellore VS, Sonmez B, Chen MC, Rayner SA, Thonar EJ, Aldave AJ. | 01/21/2010 |
| In vivo laser confocal microscopy is capable of high-resolution visualization of characteristic corneal microstructural changes related to 3 types of genetically mapped corneal stromal dystrophies. | In vivo laser confocal microscopic findings of corneal stromal dystrophies.
Kobayashi A, Fujiki K, Fujimaki T, Murakami A, Sugiyama K. | 01/21/2010 |