Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene
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Corneal dystrophiesHuman corneal GlcNac 6-O-sulfotransferase and mouse intestinal GlcNac 6-O-sulfotransferase both produce keratan sulfateMolecular cloning and expression of a novel human beta-Gal-3-O-sulfotransferase that acts preferentially on N-acetyllactosamine in N- and O-glycansA novel human Gal-3-O-sulfotransferase: molecular cloning, characterization, and its implications in biosynthesis of (SO(4)-3)Galbeta1-4(Fucalpha1-3)GlcNAcEnzymatic synthesis in vitro of the disulfated disaccharide unit of corneal keratan sulfateKeratocyte phenotype mediates proteoglycan structure: a role for fibroblasts in corneal fibrosisKeratan sulfate biosynthesisThe IC3D classification of the corneal dystrophiesFrom nano to macro: studying the hierarchical structure of the corneal extracellular matrixEnzymes responsible for synthesis of corneal keratan sulfate glycosaminoglycansParanodal junction formation and spermatogenesis require sulfoglycolipidsIn vivo regulation of steroid hormones by the Chst10 sulfotransferase in mouseConcurrent macular corneal dystrophy and keratoconus.CD2 distinguishes two subsets of human plasmacytoid dendritic cells with distinct phenotype and functions.Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6.Adipose-derived stem cells differentiate to keratocytes in vitroA remodeling system of the 3'-sulfo-Lewis a and 3'-sulfo-Lewis x epitopes.Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.Specificities of N-acetylglucosamine-6-O-sulfotransferases in relation to L-selectin ligand synthesis and tumor-associated enzyme expression.Update and perspectives on congenital disorders of glycosylation.Crystal structure-based studies of cytosolic sulfotransferase.Macular corneal dystrophy and associated corneal thinning.Carbohydrate-modifying sulfotransferases: structure, function, and pathophysiology.Congenital hereditary endothelial dystrophy - mutation analysis of SLC4A11 and genotype-phenotype correlation in a North Indian patient cohort.Golgi post-translational modifications and associated diseases.Sulfotransferases and sulfated oligosaccharides.Novel CHST6 gene mutations in 2 unrelated cases of macular corneal dystrophyMatrix morphogenesis in cornea is mediated by the modification of keratan sulfate by GlcNAc 6-O-sulfotransferase.Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies.Collagen Fibrils and Proteoglycans of Macular Dystrophy Cornea: Ultrastructure and 3D Transmission Electron Tomography.Identification of mono- and disulfated N-acetyl-lactosaminyl Oligosaccharide structures as epitopes specifically recognized by humanized monoclonal antibody HMOCC-1 raised against ovarian cancer.Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvementNovel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family.Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease.Inherited corneal disease: the evolving molecular, genetic and imaging revolution.Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations.A novel mutation (p.Glu1389AspfsX16) of the phosphoinositide kinase, FYVE finger containing gene found in a Japanese patient with fleck corneal dystrophyKSGal6ST generates galactose-6-O-sulfate in high endothelial venules but does not contribute to L-selectin-dependent lymphocyte homing.Genetics of anterior and stromal corneal dystrophies.Novel mutations of CHST6 in Iranian patients with macular corneal dystrophy
P2860
Q21093170-11831B07-15D8-453B-8322-87C859B6716DQ24291020-D2BB1321-FC87-4782-8266-56B1DBC2F40DQ24291171-3982A2D7-FCCA-4288-ACAD-85282B89B535Q24291238-F5B8E168-DACE-41CE-9148-C115DDBE871CQ24306306-DFC93699-BF6F-406F-B54D-E4107355990AQ24604597-269BD5B8-BE2F-4A99-97B6-33137E6BA312Q24608330-6BBAD7DE-16E3-4862-82DC-76E3D79B2528Q24625598-F475E463-15BD-44FE-B394-1B334974B906Q28084854-8C3ADEB2-6608-4CD1-A495-4688FC82EFA0Q28240111-153A335C-C10F-4B44-A622-EE3C3C2B7EA2Q28588514-1CBCC17C-73C1-40DC-BB8F-87A7CB882D22Q30422202-110B2B0E-AE59-42A9-BE1A-7C47A26E1413Q30467405-6A4A9147-1D24-42EC-A9E3-FAF2B258271EQ30490447-4CD1502C-43E9-4218-B0B1-B8DAD52A89DCQ33430014-F7AEF52F-8D45-4205-BDC8-021668E19839Q33778270-298425F4-261A-4F06-AEDB-92CEC2765996Q34086781-35D47BCB-415C-403A-BAF5-8C6AD9382163Q34087616-64753895-3BE0-4152-A0A0-381BADF6CAC1Q34103547-CA49F8E9-9179-4667-AB08-7499A750603EQ34110629-FFB905AF-88A6-476A-BD58-D22DD93B2B91Q34205759-E6FEF8CD-A688-43BF-8C20-823129FB8284Q34325572-313DB591-5319-4322-B6F0-061298F0BA67Q34390846-339758CA-3766-49ED-9DF3-8656D9343274Q34452915-26B5D6BF-6C0A-4F1A-AC1E-7A5403A4410DQ34476104-0835B538-F16A-4B8D-A996-54BB590DB635Q34944523-AB5F3373-AACC-4BF4-A68A-4D6094CE422CQ34975584-D21CE29B-8ABE-4382-A9FC-AD390E94EFA5Q35037223-3B26FC18-A783-45CD-89EC-6BC8A0FBA986Q35199145-1BA906F7-4608-4B92-8995-4F894F03EAFAQ35621876-0FCBA3DA-0D31-4BCF-9C39-5EE4719819EEQ35839005-B610459E-60EA-43F0-AFCF-8744464768FEQ35971655-11A6D854-0CFA-4943-91A2-6FB84765C2DFQ36083178-AB00041B-BF38-49F7-9719-C4C0C5B243D7Q36098636-FC930765-285E-40A6-846F-5807C28D840DQ36149134-4853748B-D32C-4605-82FD-4E787545B9EDQ36227022-6829FA38-1AE3-4001-82DC-122A74F4CD5FQ36499572-5A97D1AB-440E-4CD1-8CE9-0A25332A37A6Q36563888-D88B807D-71F6-4EC8-B7C3-29DA6077B234Q37063524-BF1446CF-39AE-4C64-9D8D-E0473766FCF8Q37097544-2480656F-2DF7-48DA-8E7E-0E8D9734DC1E
P2860
Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene
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2000 nî lūn-bûn
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2000 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2000年の論文
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2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
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2000年论文
@wuu
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Macular corneal dystrophy type ...... n a new sulphotransferase gene
@ast
Macular corneal dystrophy type ...... n a new sulphotransferase gene
@en
Macular corneal dystrophy type ...... n a new sulphotransferase gene
@nl
type
label
Macular corneal dystrophy type ...... n a new sulphotransferase gene
@ast
Macular corneal dystrophy type ...... n a new sulphotransferase gene
@en
Macular corneal dystrophy type ...... n a new sulphotransferase gene
@nl
prefLabel
Macular corneal dystrophy type ...... n a new sulphotransferase gene
@ast
Macular corneal dystrophy type ...... n a new sulphotransferase gene
@en
Macular corneal dystrophy type ...... n a new sulphotransferase gene
@nl
P2093
P2860
P3181
P356
P1433
P1476
Macular corneal dystrophy type ...... n a new sulphotransferase gene
@en
P2093
A Tanigami
E J Thonar
H Watanabe
J Nakayama
M N Fukuda
S Kawasaki
S Kinoshita
P2860
P2888
P304
P3181
P356
10.1038/79987
P407
P577
2000-10-01T00:00:00Z
P6179
1028200771