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    CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 [ Homo sapiens (human) ]

    Gene ID: 4166, updated on 4-Jul-2015

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    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.,

    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

    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.

    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.

    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.

    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

    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

    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.

    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

    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

    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

    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

    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

    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.

    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.

    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.

    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.

    Twenty-six different mutations of the CHST6 gene in macular corneal dystrophy in India were identified, of which 14 mutations are novel.

    Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophy.
    Sultana A, Sridhar MS, Klintworth GK, Balasubramanian D, Kannabiran C.

    mutations in the coding region of the CHST6 gene are associated with type I macular corneal dystrophy in a cohort of patients from the United States.

    Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy.
    Aldave AJ, Yellore VS, Thonar EJ, Udar N, Warren JF, Yoon MK, Cohen EJ, Rapuano CJ, Laibson PR, Margolis TP, Small K.

    These novel mutations are expected to result in loss of CHST6 function, which would account for the MCD (macular corneal dystrophy) phenotype.

    Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy.
    El-Ashry MF, Abd El-Aziz MM, Shalaby O, Wilkins S, Poopalasundaram S, Cheetham M, Tuft SJ, Hardcastle AJ, Bhattacharya SS, Ebenezer ND.

    Mutations identified in the CHST6 gene cosegregated with the disease phenotype in all but one family studied and thus caused macular corneal dystrophy.

    Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy.
    Ha NT, Chau HM, Cung le X, Thanh TK, Fujiki K, Murakami A, Hiratsuka Y, Kanai A.

    Two mutations (homozygoous R211W and compound heterozygous R211W/A217T) should be subclassified immunohistochemically into new phenotypes of macular corneal dystrophy.

    Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity.
    Iida-Hasegawa N, Furuhata A, Hayatsu H, Murakami A, Fujiki K, Nakayasu K, Kanai A.

    Homozygous p.A128V mutation in CHST6 gene and compound heterozygote for p.A128V and frameshift p.V6fs resulting from 10-base pair insertion in macular corneal dystrophy(MCD)I. Compound heterozygotes for p.A128V and p.V329L in MCD II.

    Macular corneal dystrophy types I and II are caused by distinct mutations in the CHST6 gene in Iceland.
    Liu NP, Smith CF, Bowling BL, Jonasson F, Klintworth GK.

    We identified 22 (5 nonsense, 5 frameshift, 2 insertion, and 10 missense) mutations in 36 patients from 31 families with MCD (macular corneal dystrophy)

    Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India.
    Sultana A, Sridhar MS, Jagannathan A, Balasubramanian D, Kannabiran C, Klintworth GK.

    CHST6 mutations are cardinal to the pathogenesis of macular corneal dystrophy(MCD). MCD may result from other subtle changes in CHST6 or from genetic heterogeneity.

    CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic review.
    Klintworth GK, Smith CF, Bowling BL.

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