-
1
-
-
0001415665
-
Myotonia, dwarfism, diffuse bone disease and unusual ocular and facial abnormalities (a new syndrome)
-
Aberfeld DC, Hinderbuchner LP, Schneider M. Myotonia, dwarfism, diffuse bone disease and unusual ocular and facial abnormalities (a new syndrome). Brain 1965; 88:313-22.
-
(1965)
Brain
, vol.88
, pp. 313-322
-
-
Aberfeld, D.C.1
Hinderbuchner, L.P.2
Schneider, M.3
-
2
-
-
0026627789
-
Reciprocal corneal transplantation fails to correct mucopolysaccharidosis VI corneal storage
-
Aguirre G, Raber I, Yanoff M, Haskins M. Reciprocal corneal transplantation fails to correct mucopolysaccharidosis VI corneal storage. Invest Ophthalmol Vis Sci 1992; 33:2702-13.
-
(1992)
Invest Ophthalmol Vis Sci
, vol.33
, pp. 2702-2713
-
-
Aguirre, G.1
Raber, I.2
Yanoff, M.3
Haskins, M.4
-
3
-
-
0020514048
-
Feline mucopolysaccharidosis VI: General ocular and pigment epithelial pathology
-
Aguirre G, Stramm L, Haskins M. Feline mucopolysaccharidosis VI: General ocular and pigment epithelial pathology. Invest Ophthalmol Vis Sci 1983; 24:991-1007.
-
(1983)
Invest Ophthalmol Vis Sci
, vol.24
, pp. 991-1007
-
-
Aguirre, G.1
Stramm, L.2
Haskins, M.3
-
4
-
-
0002864116
-
Animal Models of Metabolic Eye Diseases
-
Renie WA, ed, Boston, MA: Little, Brown and Company
-
Aguirre G, Stramm L, Haskins M, Jezyk P. Animal Models of Metabolic Eye Diseases. In: Renie WA, ed. Goldberg’s Genetic and Metabolic Eye Disease. Boston, MA: Little, Brown and Company, 1986:139-67.
-
(1986)
Goldberg’s Genetic and Metabolic Eye Disease
, pp. 139-167
-
-
Aguirre, G.1
Stramm, L.2
Haskins, M.3
Jezyk, P.4
-
5
-
-
0033781982
-
Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene
-
Akama TO, Nishida K, Nakayama J, et al. Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene. Nat Genet 2000; 26:237-41.
-
(2000)
Nat Genet
, vol.26
, pp. 237-241
-
-
Akama, T.O.1
Nishida, K.2
Nakayama, J.3
-
6
-
-
0025130996
-
Localization of gene for human syndecan, an integral membrane proteoglycan and a matrix receptor, to chromosome 2
-
Ala-Kapee M, Nevanlinna H, Mali M, et al. Localization of gene for human syndecan, an integral membrane proteoglycan and a matrix receptor, to chromosome 2. Somat Cell Molec Genet 1990; 16:501-5.
-
(1990)
Somat Cell Molec Genet
, vol.16
, pp. 501-505
-
-
Ala-Kapee, M.1
Nevanlinna, H.2
Mali, M.3
-
7
-
-
1842316553
-
Electron microscopy of two cerebral biopsies in gargoylism
-
Aleu F, Terry RD, Zellweger H. Electron microscopy of two cerebral biopsies in gargoylism. J Neuropath Exp Neurol 1965; 24:304-17.
-
(1965)
J Neuropath Exp Neurol
, vol.24
, pp. 304-317
-
-
Aleu, F.1
Terry, R.D.2
Zellweger, H.3
-
8
-
-
0014545660
-
Studies on corneal polysaccharides. V. Changes in corneal glycosaminoglycans in transient stromal edema
-
Anseth A. Studies on corneal polysaccharides. V. Changes in corneal glycosaminoglycans in transient stromal edema. Exp. Eye Res. 1969; 8:297-301.
-
(1969)
Exp. Eye Res.
, vol.8
, pp. 297-301
-
-
Anseth, A.1
-
9
-
-
0014541718
-
Studies on corneal polysaccharides. VII Changes in the glycosaminoglycans in penetrating corneal grafts
-
Anseth A. Studies on corneal polysaccharides. VII Changes in the glycosaminoglycans in penetrating corneal grafts. Exp Eye Res 1969; 8:310-4.
-
(1969)
Exp Eye Res
, vol.8
, pp. 310-314
-
-
Anseth, A.1
-
10
-
-
0014586314
-
Studies on corneal polysaccharides. VIII Changes in the glycosaminoglycans in some human corneal disorders
-
Anseth A. Studies on corneal polysaccharides. VIII Changes in the glycosaminoglycans in some human corneal disorders. Exp Eye Res 1969; 8:438-41.
-
(1969)
Exp Eye Res
, vol.8
, pp. 438-441
-
-
Anseth, A.1
-
11
-
-
0014541045
-
Studies on corneal polysaccharides. VI. Isolation of dermatan sulfate from corneal scar tissue
-
Anseth A, Fransson LA. Studies on corneal polysaccharides. VI. Isolation of dermatan sulfate from corneal scar tissue. Exp Eye Res 1969; 8:302-9.
-
(1969)
Exp Eye Res
, vol.8
, pp. 302-309
-
-
Anseth, A.1
Fransson, L.A.2
-
12
-
-
73649184749
-
Polysaccharides in normal and pathologic corneas
-
Anseth A, Laurent TC. Polysaccharides in normal and pathologic corneas. Invest Ophthalmol 1962; 1:195-201.
-
(1962)
Invest Ophthalmol
, vol.1
, pp. 195-201
-
-
Anseth, A.1
Laurent, T.C.2
-
13
-
-
0024421488
-
Keratan sulfate-enriched region of bovine cartilage proteoglycan consists of a consecutively repeated hexapeptide motif
-
Antonsson P, Heinegard D, Oldberg A. The keratan sulfate-enriched region of bovine cartilage proteoglycan consists of a consecutively repeated hexapeptide motif. J Biol Chem 1989; 264:16170-3.
-
(1989)
J Biol Chem
, vol.264
, pp. 16170-16173
-
-
Antonsson, P.1
Heinegard, D.2
Oldberg, A.3
-
14
-
-
0026012416
-
Posttranslational modifications of fibromodulin
-
Antonsson P, Heinegard D, Oldberg A. Posttranslational modifications of fibromodulin. J Biol Chem 1991; 266:16859-61.
-
(1991)
J Biol Chem
, vol.266
, pp. 16859-16861
-
-
Antonsson, P.1
Heinegard, D.2
Oldberg, A.3
-
15
-
-
18344383853
-
Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia
-
Arikawa-Hirasawa E, Le AH, Nishino I, et al. Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. Am J Hum Genet 2002; 70 1368-75.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1368-1375
-
-
Arikawa-Hirasawa, E.1
Le, A.H.2
Nishino, I.3
-
16
-
-
0036276360
-
Altered collagen fibril formation in the sclera of lumican-deficient mice
-
Austin BA, Coulon C, Liu CY, et al. Altered collagen fibril formation in the sclera of lumican-deficient mice. Invest Ophthalmol Vis Sci 2002; 43:1695-701.
-
(2002)
Invest Ophthalmol Vis Sci
, vol.43
, pp. 1695-1701
-
-
Austin, B.A.1
Coulon, C.2
Liu, C.Y.3
-
17
-
-
0018938505
-
Characterization of chondroitin sulfate-rich proteoglycans from bovine corneal stroma
-
Axelsson I, Heinegard D. Characterization of chondroitin sulfate-rich proteoglycans from bovine corneal stroma. Exp Eye Res 1980; 31:57-66.
-
(1980)
Exp Eye Res
, vol.31
, pp. 57-66
-
-
Axelsson, I.1
Heinegard, D.2
-
18
-
-
0015798495
-
Defect in the Hunter syndrome: Deficiency of sulfoiduronate sulfatase
-
Bach G, Eisenberg F Jr, Cantz M, Neufeld EF. The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase. Proc Natl Acad Sci USA 1973; 70:2134-8.
-
(1973)
Proc Natl Acad Sci USA
, vol.70
, pp. 2134-2138
-
-
Bach, G.1
Eisenberg, F.2
Cantz, M.3
Neufeld, E.F.4
-
19
-
-
0026593041
-
Effect of oxygen tension and lactate concentration on keratan sulphate and chondroitin sulphate biosynthesis in bovine cornea
-
Balduini, C, De Luca, G, Passi, A, et al. Effect of oxygen tension and lactate concentration on keratan sulphate and chondroitin sulphate biosynthesis in bovine cornea. Biochim Biophys Acta 1992; 1115:187-91.
-
(1992)
Biochim Biophys Acta
, vol.1115
, pp. 187-191
-
-
Balduini, C.1
De Luca, G.2
Passi, A.3
-
20
-
-
0033757466
-
Mutations in NYX, encoding the leucine rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness
-
Bech-Hansen NT, Naylor MJ, Maybaum TA, et al. Mutations in NYX, encoding the leucine rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. Nature Genet 2000; 26:319-23.
-
(2000)
Nature Genet
, vol.26
, pp. 319-323
-
-
Bech-Hansen, N.T.1
Naylor, M.J.2
Maybaum, T.A.3
-
23
-
-
0024524979
-
Murine mucopolyssacharidosis type VII: Characterization of a mouse with b-glucuronidase deficiency
-
Birkenmeier E.H, Davisson MT, Beamer WG, et al. Murine mucopolyssacharidosis type VII: characterization of a mouse with b-glucuronidase deficiency. J Clin Invest 1989; 83:1258-66.
-
(1989)
J Clin Invest
, vol.83
, pp. 1258-1266
-
-
Birkenmeier, E.H.1
Davisson, M.T.2
Beamer, W.G.3
-
24
-
-
0026558368
-
Cdna to chick lumican (corneal keratan sulfate proteoglycan) reveals homology to the small interstitial proteoglycan gene family and expression in muscle and intestine
-
Blochberger TC, Vergnes J-P, Hempel J, Hassell JR. cDNA to chick lumican (corneal keratan sulfate proteoglycan) reveals homology to the small interstitial proteoglycan gene family and expression in muscle and intestine. J Biol Chem 1992; 267:347-52.
-
(1992)
J Biol Chem
, vol.267
, pp. 347-352
-
-
Blochberger, T.C.1
Vergnes, J.-P.2
Hempel, J.3
Hassell, J.R.4
-
25
-
-
0037237790
-
Syndecan captures, protects, and transmits HIV to T lymphocytes
-
Bobardt MD, Saphire ACS, Hung H-C, et al. Syndecan captures, protects, and transmits HIV to T lymphocytes. Immunity 2003; 18:27-39.
-
(2003)
Immunity
, vol.18
, pp. 27-39
-
-
Bobardt, M.D.1
Saphire, A.C.S.2
Hung, H.-C.3
-
26
-
-
0016818889
-
Proteoglycans and collagen fibre organization in human corneoscleral tissue
-
Borcherding MS, Blacik LJ, Sittig RA, et al. Proteoglycans and collagen fibre organization in human corneoscleral tissue Exp Eye Res 1975; 21:59-70.
-
(1975)
Exp Eye Res
, vol.21
, pp. 59-70
-
-
Borcherding, M.S.1
Blacik, L.J.2
Sittig, R.A.3
-
27
-
-
0012164452
-
Gargoylism: A mucopolysaccharidosis
-
Brante G. Gargoylism: a mucopolysaccharidosis. Scand J Clin Lab Invest 1952; 4:43-6.
-
(1952)
Scand J Clin Lab Invest
, vol.4
, pp. 43-46
-
-
Brante, G.1
-
28
-
-
13944271839
-
Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene
-
Bredrup C, Knappskog P M, Majewski J, et al. Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. Invest Ophthal Vis Sci 2005; 46:420-6.
-
(2005)
Invest Ophthal Vis Sci
, vol.46
, pp. 420-426
-
-
Bredrup, C.1
Knappskog, P.M.2
Majewski, J.3
-
29
-
-
13944271839
-
Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene
-
Bredrup C, Knappskog PM, Majweski J, et al. Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. Invest Ophthamol Vis Sci 2005; 46:420-6.
-
(2005)
Invest Ophthamol Vis Sci
, vol.46
, pp. 420-426
-
-
Bredrup, C.1
Knappskog, P.M.2
Majweski, J.3
-
30
-
-
0024517211
-
Long-term effects of bone marrow transplantation in dogs with mucopolysaccharidosis I
-
Breider MA, Shull RM, Constantopoulos G. Long-term effects of bone marrow transplantation in dogs with mucopolysaccharidosis I. Am J Pathol 1989; 134:677-92.
-
(1989)
Am J Pathol
, vol.134
, pp. 677-692
-
-
Breider, M.A.1
Shull, R.M.2
Constantopoulos, G.3
-
31
-
-
84909534984
-
Tissue storage of mucopolysaccharides in Hurler-Pfaundler’s disease
-
Brown DH. Tissue storage of mucopolysaccharides in Hurler-Pfaundler’s disease. Proc Natl Acad Sci USA 1957; 43:783-90.
-
(1957)
Proc Natl Acad Sci USA
, vol.43
, pp. 783-790
-
-
Brown, D.H.1
-
32
-
-
0014806192
-
Peripheral corneal opacification and skeletal deformities: A newly recognized acid mucopolysaccharidosis simulating rheumatoid arthritis
-
Brown SI, Kuwabara T. Peripheral corneal opacification and skeletal deformities: a newly recognized acid mucopolysaccharidosis simulating rheumatoid arthritis. Arch Ophthalmol 1970; 83:667-77.
-
(1970)
Arch Ophthalmol
, vol.83
, pp. 667-677
-
-
Brown, S.I.1
Kuwabara, T.2
-
33
-
-
33751187897
-
Molecular diversity of glycoaminoglycans shapes animal development
-
2006
-
Bülow, H.E., Hobert, O. The molecular diversity of glycoaminoglycans shapes animal development. Annu. Rev. Cell Dev. Biol. 2006; 22:375--407, 2006.
-
(2006)
Annu. Rev. Cell Dev. Biol.
, vol.22
, pp. 375
-
-
Bülow, H.E.1
Hobert, O.2
-
34
-
-
0014226436
-
Difficile inquadramento di una forma clinica di osteochondrodistrofia associata a disturbi neurologici di tipo extrapiramidale. Studio clinicobiochimico in 4 fratelli
-
Napoli
-
Buscaino GA. Difficile inquadramento di una forma clinica di osteochondrodistrofia associata a disturbi neurologici di tipo extrapiramidale. Studio clinicobiochimico in 4 fratelli. Acta Neurol 1968; (Napoli) 23:34-60.
-
(1968)
Acta Neurol
, vol.23
, pp. 34-60
-
-
Buscaino, G.A.1
-
35
-
-
0014933394
-
Characterization of the factor deficient in the Hunter syndrome by polyacrylamide gel electrophoresis
-
Cantz AM, Chrambach A, Neufeld EF. Characterization of the factor deficient in the Hunter syndrome by polyacrylamide gel electrophoresis. Biochem Biophys Res Commun 1970; 39:936-42.
-
(1970)
Biochem Biophys Res Commun
, vol.39
, pp. 936-942
-
-
Cantz, A.M.1
Chrambach, A.2
Neufeld, E.F.3
-
36
-
-
0026606648
-
Molecular cloning and characterization of N-syndecan, a novel transmembrane heparan sulfate proteoglycan
-
Carey DJ, Evans DM, Stahl RC, et al. Molecular cloning and characterization of N-syndecan, a novel transmembrane heparan sulfate proteoglycan. J Cell Biol 1992; 117:191-201.
-
(1992)
J Cell Biol
, vol.117
, pp. 191-201
-
-
Carey, D.J.1
Evans, D.M.2
Stahl, R.C.3
-
37
-
-
0023939662
-
Water gradients across bovine cornea
-
Castoro, JA, Bettelheim, AA, Bettelheim, FA. Water gradients across bovine cornea. Invest Ophthalmol Vis Sci 1988; 29:963-8.
-
(1988)
Invest Ophthalmol Vis Sci
, vol.29
, pp. 963-968
-
-
Castoro, J.A.1
Bettelheim, A.A.2
Bettelheim, F.A.3
-
38
-
-
0029160769
-
Primary structure of human lumican (keratan sulfate proteoglycan) and localization of the gene (LUM) to chromosome 12q21.3-q22
-
Chakravarti S, Stallings RL Sundar Raj N, et al. Primary structure of human lumican (keratan sulfate proteoglycan) and localization of the gene (LUM) to chromosome 12q21.3-q22. Genomics 1995; 27:481-8.
-
(1995)
Genomics
, vol.27
, pp. 481-488
-
-
Chakravarti, S.1
Stallings, R.L.2
Sundar Raj, N.3
-
42
-
-
0024525039
-
Characterization of a heparan sulfate proteoglycan that copurifies with the neural cell adhesion molecule
-
Cole GJ, Burg M. Characterization of a heparan sulfate proteoglycan that copurifies with the neural cell adhesion molecule. Exp Cell Res 1989; 182:44-60.
-
(1989)
Exp Cell Res
, vol.182
, pp. 44-60
-
-
Cole, G.J.1
Burg, M.2
-
44
-
-
4444240885
-
Essential and separable roles for syndecan-3 and syndecan-4 in skeletal muscle development and regeneration
-
Cornelison DDW, Wilcox-Adelman SA, Goetinck PF, et al. Essential and separable roles for syndecan-3 and syndecan-4 in skeletal muscle development and regeneration. Genes Dev 2004; 18:2231-6.
-
(2004)
Genes Dev
, vol.18
, pp. 2231-2236
-
-
Cornelison, D.D.W.1
Wilcox-Adelman, S.A.2
Goetinck, P.F.3
-
46
-
-
0015787154
-
Early prenatal diagnosis of Hurler’s syndrome with termination of pregnancy and confirmatory findings on the fetus
-
Crawford M. d’A, Dean MF, Hunt DM, et al. Early prenatal diagnosis of Hurler’s syndrome with termination of pregnancy and confirmatory findings on the fetus. J Med Genet 1973; 10:144-53.
-
(1973)
J Med Genet
, vol.10
, pp. 144-153
-
-
Crawford, M.A.1
Dean, M.F.2
Hunt, D.M.3
-
47
-
-
0020082261
-
Synthesis of glycosaminoglycans in corneal organ cultures
-
Dahl IMS, Laurent TC. Synthesis of glycosaminoglycans in corneal organ cultures. Exp Eye Res 1982; 34:83-98.
-
(1982)
Exp Eye Res
, vol.34
, pp. 83-98
-
-
Dahl, I.M.S.1
Laurent, T.C.2
-
48
-
-
0017661360
-
Variant of iduronidase deficient mucopolysaccharidoses:Further evidence for genetic heterogeneity
-
Danes BS. Variant of iduronidase deficient mucopolysaccharidoses:further evidence for genetic heterogeneity. J Med Genet 1977; 14:346-51.
-
(1977)
J Med Genet
, vol.14
, pp. 346-351
-
-
Danes, B.S.1
-
49
-
-
0027407559
-
Human decorin gene: Intron-exon organization, discovery of two alternatively spliced exons in the 5-prime untranslated region, and mapping of the gene to chromosome 12q23
-
Danielson KG, Fazzio A, Cohen I, et al. The human decorin gene: intron-exon organization, discovery of two alternatively spliced exons in the 5-prime untranslated region, and mapping of the gene to chromosome 12q23. Genomics 1993; 15:146-60.
-
(1993)
Genomics
, vol.15
, pp. 146-160
-
-
Danielson, K.G.1
Fazzio, A.2
Cohen, I.3
-
50
-
-
0026675026
-
Molecular cloning of amphiglycan, a novel integral membrane heparan sulfate proteoglycan expressed by epithelial and fibroblastic cells
-
David G, van der Schueren B, Marynen P, et al. Molecular cloning of amphiglycan, a novel integral membrane heparan sulfate proteoglycan expressed by epithelial and fibroblastic cells. J Cell Biol 1992; 118:961-9.
-
(1992)
J Cell Biol
, vol.118
, pp. 961-969
-
-
David, G.1
van der Schueren, B.2
Marynen, P.3
-
51
-
-
84879690220
-
Morquio’s disease: Report of two cases
-
Davis DB, Currier FP. Morquio’s disease: report of two cases. J Am Med Assoc 1934; 102:2173-6.
-
(1934)
J Am Med Assoc
, vol.102
, pp. 2173-2176
-
-
Davis, D.B.1
Currier, F.P.2
-
52
-
-
0030589590
-
Characterization of human DSPG3, a small dermatan sulfate proteoglycan
-
Deere M, Johnson J, Garza S, et al. Characterization of human DSPG3, a small dermatan sulfate proteoglycan. Genomics 1996; 38:399-04.
-
(1996)
Genomics
, vol.38
, pp. 399
-
-
Deere, M.1
Johnson, J.2
Garza, S.3
-
53
-
-
0015059615
-
Hurler’s and Sanfilippo’s variants of mucopolysaccharidosis: Cerebral pathology and lipid chemistry
-
Dekaban AS, Patton VM. Hurler’s and Sanfilippo’s variants of mucopolysaccharidosis: cerebral pathology and lipid chemistry. Arch Pathol 1971; 91:434-43.
-
(1971)
Arch Pathol
, vol.91
, pp. 434-443
-
-
Dekaban, A.S.1
Patton, V.M.2
-
54
-
-
0014167671
-
Aspect clinique, examen histologique et structural d’une cornée dystrophique de maladie de Hurler
-
Desvignes P, Pouliquen Y, Legras M, Guyot JD. Aspect clinique, examen histologique et structural d’une cornée dystrophique de maladie de Hurler. Bull Mem Soc Fr Ophtalmol 1967; 80:43-8.
-
(1967)
Bull Mem Soc Fr Ophtalmol
, vol.80
, pp. 43-48
-
-
Desvignes, P.1
Pouliquen, Y.2
Legras, M.3
Guyot, J.D.4
-
55
-
-
0017801419
-
Deficiencies of glucosamine-6-sulfate or galactosamine-6-sulfate sulfatases are responsible for different mucopolysaccharidoses
-
Di Ferrante N, Ginsberg LC, Donnelly PV, et al. Deficiencies of glucosamine-6-sulfate or galactosamine-6-sulfate sulfatases are responsible for different mucopolysaccharidoses. 1978; Science 199:79-81.
-
(1978)
Science
, vol.199
, pp. 79-81
-
-
Di Ferrante, N.1
Ginsberg, L.C.2
Donnelly, P.V.3
-
56
-
-
0025790413
-
Heparan sulfate proteoglycan and human colon: Partial molecular cloning, cellular expression and mapping of the gene (HSPG2) to the short arm of human chromosome 1
-
Dodge GR, Kovalszky I, Chu M-T, et al. Heparan sulfate proteoglycan and human colon: partial molecular cloning, cellular expression and mapping of the gene (HSPG2) to the short arm of human chromosome 1. Genomics 1991; 10:673-80.
-
(1991)
Genomics
, vol.10
, pp. 673-680
-
-
Dodge, G.R.1
Kovalszky, I.2
Chu, M.-T.3
-
57
-
-
0025976188
-
Complete coding sequence and deduced primary structure of the human cartilage large aggregating proteoglycan, aggrecan. Human-specific repeats, and additional alternatively spliced forms
-
Doege KJ, Sasaki M, Kimura T, Yamada Y. Complete coding sequence and deduced primary structure of the human cartilage large aggregating proteoglycan, aggrecan. Human-specific repeats, and additional alternatively spliced forms. J Biol Chem 1991; 266:894-902.
-
(1991)
J Biol Chem
, vol.266
, pp. 894-902
-
-
Doege, K.J.1
Sasaki, M.2
Kimura, T.3
Yamada, Y.4
-
58
-
-
84918753983
-
Mucopolysaccharides in corneal wound healing
-
Dardenne MU, Nordmann J, eds, Basel, S. Karger
-
Dohlman CH, Praus R. The mucopolysaccharides in corneal wound healing. In: Dardenne MU, Nordmann J, eds. Biochemistry of the Eye. Basel, S. Karger, 1968:120-7.
-
(1968)
Biochemistry of the Eye
, pp. 120-127
-
-
Dohlman, C.H.1
Praus, R.2
-
59
-
-
0001457180
-
Occurrence of urinary acid mucopolysaccharides in the Hurler syndrome
-
Dorfman A, Lorincz AE. Occurrence of urinary acid mucopolysaccharides in the Hurler syndrome. Proc Natl Acad Sci USA 1957; 43:443-6.
-
(1957)
Proc Natl Acad Sci USA
, vol.43
, pp. 443-446
-
-
Dorfman, A.1
Lorincz, A.E.2
-
60
-
-
0015470999
-
Corneal mucopolysaccharidosis:Light and electron microscopic study of an atypical case after keratoplasty
-
Edmison DR, Robertson DM, Rosen DA. Corneal mucopolysaccharidosis:light and electron microscopic study of an atypical case after keratoplasty. Can J Ophthalmol 1972; 7:271-6.
-
(1972)
Can J Ophthalmol
, vol.7
, pp. 271-276
-
-
Edmison, D.R.1
Robertson, D.M.2
Rosen, D.A.3
-
61
-
-
0014028254
-
Biopsie cérébrale d’un cas de mucopolysaccharidose H.S. (oligophrénie polydystrophique ou maladie de Sanfilippo). Étude histochimique et ultrastructurale
-
Escourolle R, Berger B, Poirier J. Biopsie cérébrale d’un cas de mucopolysaccharidose H.S. (oligophrénie polydystrophique ou maladie de Sanfilippo). Étude histochimique et ultrastructurale. Presse Med 1966; 74:2869-74.
-
(1966)
Presse Med
, vol.74
, pp. 2869-2874
-
-
Escourolle, R.1
Berger, B.2
Poirier, J.3
-
62
-
-
0025823018
-
Genetic analysis of proteoglycan structure, function and metabolism
-
Esko JD. Genetic analysis of proteoglycan structure, function and metabolism. Curr Opin Cell Biol 1991; 3:805-16.
-
(1991)
Curr Opin Cell Biol
, vol.3
, pp. 805-816
-
-
Esko, J.D.1
-
64
-
-
0035005707
-
Mini Review. Glypicans in growth control and cancer
-
Filmus J. Mini Review. Glypicans in growth control and cancer. Glycobiology 2001; 11:19R-23R.
-
(2001)
Glycobiology
, vol.11
, pp. 19R-23R
-
-
Filmus, J.1
-
65
-
-
0026320793
-
Human biglycan gene. Putative promoter, intron-exon junctions, and chromosomal localization
-
Fisher LW, Heegaard AM, Vetter U, et al. Human biglycan gene. Putative promoter, intron-exon junctions, and chromosomal localization. J Biol Chem 1991; 266:14371-7.
-
(1991)
J Biol Chem
, vol.266
, pp. 14371-14377
-
-
Fisher, L.W.1
Heegaard, A.M.2
Vetter, U.3
-
66
-
-
0015185753
-
Congenital blepharophimosis, joint contractures, and muscular hypotonia
-
Fitch N, Karpati G, Pinsky L. Congenital blepharophimosis, joint contractures, and muscular hypotonia. Neurology 1971 21: 1214-20.
-
(1971)
Neurology
, vol.21
, pp. 1214-1220
-
-
Fitch, N.1
Karpati, G.2
Pinsky, L.3
-
68
-
-
85057923722
-
Chemistry of dermatan sulphate accumulated intracellularly in Hunter’s disease
-
Holton JB, Ireland JT, eds, Baltimore, University Park Press
-
Fransson L-A, Sjöberg I, Dorfman A, Matalon R. Chemistry of dermatan sulphate accumulated intracellularly in Hunter’s disease. In: Holton JB, Ireland JT, eds. Inborn Errors of Skin Hair and Connective Tissue. Baltimore, University Park Press, 1975:179-96.
-
(1975)
Inborn Errors of Skin Hair and Connective Tissue
, pp. 179-196
-
-
Fransson, L.-A.1
Sjöberg, I.2
Dorfman, A.3
Matalon, R.4
-
69
-
-
0014293028
-
Defect in Hurler’s and Hunter’s syndromes: Faulty degradation of mucopolysaccharides
-
Frantantoni JC, Hall CW, Neufeld EF. The defect in Hurler’s and Hunter’s syndromes: faulty degradation of mucopolysaccharides. Proc Natl Acad Sci USA 1968; 60:699-706.
-
(1968)
Proc Natl Acad Sci USA
, vol.60
, pp. 699-706
-
-
Frantantoni, J.C.1
Hall, C.W.2
Neufeld, E.F.3
-
70
-
-
0014352329
-
Hurler and Hunter syndromes: Mutual correction of defect in cultured fibroblasts
-
Frantantoni JC, Hall CW, Neufeld EF. Hurler and Hunter syndromes: mutual correction of defect in cultured fibroblasts. Science 1968; 162:570-2.
-
(1968)
Science
, vol.162
, pp. 570-572
-
-
Frantantoni, J.C.1
Hall, C.W.2
Neufeld, E.F.3
-
71
-
-
0014567351
-
Defect in Hurler and Hunter syndromes. II. Deficiency of specific factors involved in mucopolysaccharide degradation
-
Frantantoni JC, Hall CW, Neufeld EF. The defect in Hurler and Hunter syndromes. II. Deficiency of specific factors involved in mucopolysaccharide degradation. Proc Natl Acad Sci USA 1969; 64:360-6.
-
(1969)
Proc Natl Acad Sci USA
, vol.64
, pp. 360-366
-
-
Frantantoni, J.C.1
Hall, C.W.2
Neufeld, E.F.3
-
73
-
-
0037093461
-
Protein localization in the human eye and genetic screen of opticin
-
Friedman JS, Faucher M, Hiscott P, et al. Protein localization in the human eye and genetic screen of opticin. Hum Molec Genet 2002; 11:1333-42.
-
(2002)
Hum Molec Genet
, vol.11
, pp. 1333-1342
-
-
Friedman, J.S.1
Faucher, M.2
Hiscott, P.3
-
74
-
-
0022538685
-
Interstitial 7q deletion (46, XY, del(7)(pter cen::Q112qtr)) in a retarded quadriplegic boy with normal betaglucuronidase
-
Frydman M, Steinberger J, Shabtai F, Steinherz R. Interstitial 7q deletion (46, XY, del(7)(pter cen::q112qtr)) in a retarded quadriplegic boy with normal betaglucuronidase. Am J Med Genet 1986; 25:245-9.
-
(1986)
Am J Med Genet
, vol.25
, pp. 245-249
-
-
Frydman, M.1
Steinberger, J.2
Shabtai, F.3
Steinherz, R.4
-
75
-
-
18444389460
-
Lack of collagen XVIII/endostatin results in eye abnormalities
-
Fukai N, Eklund L, Marneros AG, et al. Lack of collagen XVIII/endostatin results in eye abnormalities. Embo J 2002; 21:1535-44.
-
(2002)
Embo J
, vol.21
, pp. 1535-1544
-
-
Fukai, N.1
Eklund, L.2
Marneros, A.G.3
-
76
-
-
0022877284
-
Keratan sulfate proteoglycan during embryonic development of the chicken cornea
-
Funderburgh JL, Caterson B, Conrad GW. Keratan sulfate proteoglycan during embryonic development of the chicken cornea. Dev Biol 1986; 116:267-77.
-
(1986)
Dev Biol
, vol.116
, pp. 267-277
-
-
Funderburgh, J.L.1
Caterson, B.2
Conrad, G.W.3
-
77
-
-
0024599079
-
Proteoglycans of rabbit corneas with nonperforating wounds
-
Funderburgh JL, Chandler JW. Proteoglycans of rabbit corneas with nonperforating wounds. Invest Ophthalmol Vis Sci 1989; 30:435-42.
-
(1989)
Invest Ophthalmol Vis Sci
, vol.30
, pp. 435-442
-
-
Funderburgh, J.L.1
Chandler, J.W.2
-
79
-
-
0026344237
-
Arterial lumican: Properties of a corneal-type keratan sulfate proteoglycan from bovine aorta
-
Funderburgh JL, Funderburgh ML, Mann MM, Conrad GW. Arterial lumican: properties of a corneal-type keratan sulfate proteoglycan from bovine aorta. J Biol Chem 1991; 266:24773-7.
-
(1991)
J Biol Chem
, vol.266
, pp. 24773-24777
-
-
Funderburgh, J.L.1
Funderburgh, M.L.2
Mann, M.M.3
Conrad, G.W.4
-
82
-
-
0021679851
-
Correction of feline arylsulfatase B deficiency (mucopolysaccharidosis VI) by bone marrow transplantation
-
Gasper PW, Thrall MA, Wenger DA, et al. Correction of feline arylsulfatase B deficiency (mucopolysaccharidosis VI) by bone marrow transplantation. Nature 1984; 312:467-9.
-
(1984)
Nature
, vol.312
, pp. 467-469
-
-
Gasper, P.W.1
Thrall, M.A.2
Wenger, D.A.3
-
83
-
-
0034617144
-
Overexpression of bamacan/SMC3 cusese transformation
-
Ghiselli G, Iozzo RV. Overexpression of bamacan/SMC3 cusese transformation. J Biol Chem 2000; 275:20235-8.
-
(2000)
J Biol Chem
, vol.275
, pp. 20235-20238
-
-
Ghiselli, G.1
Iozzo, R.V.2
-
84
-
-
0016235865
-
Morquio syndrome: Light and electron microscopic findings from two corneas
-
Ghosh M, McCulloch C. The Morquio syndrome: light and electron microscopic findings from two corneas. Can J Ophthalmol 1974; 9:445-52.
-
(1974)
Can J Ophthalmol
, vol.9
, pp. 445-452
-
-
Ghosh, M.1
McCulloch, C.2
-
85
-
-
0017816402
-
Nacetylglucosamine-6-sulfate sulfatase in man: Deficiency of the enzyme in a new mucopolysaccharidosis
-
Ginsberg LC, Donnelly PV, Di Ferrante DT, et al. Nacetylglucosamine-6-sulfate sulfatase in man: deficiency of the enzyme in a new mucopolysaccharidosis. Pediatr Res 1978; 12:805-9.
-
(1978)
Pediatr Res
, vol.12
, pp. 805-809
-
-
Ginsberg, L.C.1
Donnelly, P.V.2
Di Ferrante, D.T.3
-
86
-
-
23944438868
-
A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepihyseal dysplasia associated with severe, premature osteoarthritis
-
Gleghorn L, Ramesar R, Beighton P, Wallis G. A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepihyseal dysplasia associated with severe, premature osteoarthritis. Am J Hum Genet 2005; 77:484-90.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 484-490
-
-
Gleghorn, L.1
Ramesar, R.2
Beighton, P.3
Wallis, G.4
-
87
-
-
0026263965
-
Proteoglycans in development
-
Goetinck PF. Proteoglycans in development. Curr Topics Develop Biol 1991; 25:111-31.
-
(1991)
Curr Topics Develop Biol
, vol.25
, pp. 111-131
-
-
Goetinck, P.F.1
-
88
-
-
0014077698
-
Ocular histopathology in Hunter’s syndrome: Systemic mucopolysaccharidosis type II
-
Goldberg MF, Duke JR. Ocular histopathology in Hunter’s syndrome: systemic mucopolysaccharidosis type II. Arch Ophthalmol 1967; 77:503-12.
-
(1967)
Arch Ophthalmol
, vol.77
, pp. 503-512
-
-
Goldberg, M.F.1
Duke, J.R.2
-
89
-
-
0014799373
-
Hydrocephalus and papilledema in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI)
-
Goldberg, MF, Scott CI, McKusick VA. Hydrocephalus and papilledema in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Am J Ophthalmol 1970; 69:969-75.
-
(1970)
Am J Ophthalmol
, vol.69
, pp. 969-975
-
-
Goldberg, M.F.1
Scott, C.I.2
McKusick, V.A.3
-
91
-
-
0008788281
-
Ultrastructural and biochemical observations on a case of systemic late infantile lipidosis and its relationship to Tay-Sachs disease and gargoylismus
-
Gonatas NK, Gonatas J. Ultrastructural and biochemical observations on a case of systemic late infantile lipidosis and its relationship to Tay-Sachs disease and gargoylismus. J Neuropath Exp Neurol 1965; 24:318-40.
-
(1965)
J Neuropath Exp Neurol
, vol.24
, pp. 318-340
-
-
Gonatas, N.K.1
Gonatas, J.2
-
92
-
-
0024584160
-
Unique parameters in the healing of linear partial thickness penetrating corneal incisions in rabbit: Immunohistochemical evaluation
-
Goodman WM, SundarRaj N, Garone M, et al. Unique parameters in the healing of linear partial thickness penetrating corneal incisions in rabbit: immunohistochemical evaluation. Curr Eye Res 1989; 8:305-16.
-
(1989)
Curr Eye Res
, vol.8
, pp. 305-316
-
-
Goodman, W.M.1
SundarRaj, N.2
Garone, M.3
-
93
-
-
0026508469
-
Syndecan 3: A member of the syndecan family of membrane-intercalated proteoglycans that is expressed in high amounts at the onset of chicken limb cartilage differentiation
-
Gould SE, Upholt WB, Kosher RA. Syndecan 3: a member of the syndecan family of membrane-intercalated proteoglycans that is expressed in high amounts at the onset of chicken limb cartilage differentiation. Proc Natl Acad Sci USA 1992; 89:3271-5.
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 3271-3275
-
-
Gould, S.E.1
Upholt, W.B.2
Kosher, R.A.3
-
94
-
-
0020490736
-
Proteoglycans of rabbit corneal stroma: Isolation and characterization
-
Gregory JD, Coster L, Damle SP. Proteoglycans of rabbit corneal stroma: isolation and characterization. J Biol Chem 1982; 257:6965-70.
-
(1982)
J Biol Chem
, vol.257
, pp. 6965-6970
-
-
Gregory, J.D.1
Coster, L.2
Damle, S.P.3
-
95
-
-
0021592719
-
Transplantation in relation to the treatment of inherited disease
-
Groth C, Ringden O. Transplantation in relation to the treatment of inherited disease. Transplantation 1984; 38:319-27.
-
(1984)
Transplantation
, vol.38
, pp. 319-327
-
-
Groth, C.1
Ringden, O.2
-
96
-
-
0030479818
-
Gene organization, chromosome location, and expression of a 55-kDa matrix protein (PRELP) of human articular cartilage
-
Grover J, Chen X-N, Korenberg JR, et al. The gene organization, chromosome location, and expression of a 55-kDa matrix protein (PRELP) of human articular cartilage. Genomics 1996; 38:109-17.
-
(1996)
Genomics
, vol.38
, pp. 109-117
-
-
Grover, J.1
Chen, X.-N.2
Korenberg, J.R.3
-
97
-
-
0015598294
-
A b-glucuronidase deficiency mucopolysaccharidosis: Studies in cultured fibroblasts
-
Hall CW, Cantz M, Neufeld EF. A b-glucuronidase deficiency mucopolysaccharidosis: studies in cultured fibroblasts. Arch Biochem Biophys 1973; 155:32-8.
-
(1973)
Arch Biochem Biophys
, vol.155
, pp. 32-38
-
-
Hall, C.W.1
Cantz, M.2
Neufeld, E.F.3
-
98
-
-
77951969864
-
Mucopolysaccharide disorder: A possible new genotype of Hurler’s syndrome
-
Harris RC. Mucopolysaccharide disorder: a possible new genotype of Hurler’s syndrome. Am J Dis Child 1961; 102:741-2.
-
(1961)
Am J Dis Child
, vol.102
, pp. 741-742
-
-
Harris, R.C.1
-
99
-
-
0020563454
-
Pathology of the feline model of mucopolysaccharidosis I
-
Haskins M, Aguirre G, Jezyk P, et al. The pathology of the feline model of mucopolysaccharidosis I Am J Pathol 1983; 112:27-36.
-
(1983)
Am J Pathol
, vol.112
, pp. 27-36
-
-
Haskins, M.1
Aguirre, G.2
Jezyk, P.3
-
100
-
-
0026181579
-
Animal model of human disease. Mucopolysaccharidosis type VII (Sly syndrome): Beta-glucuronidase-deficient mucopolysaccharidosis in the dog
-
Haskins ME, Aguirre GD, Jezyk PF, et al. Animal model of human disease. Mucopolysaccharidosis type VII (Sly syndrome): beta-glucuronidase-deficient mucopolysaccharidosis in the dog. Am J Path 1991; 138:1553-5.
-
(1991)
Am J Path
, vol.138
, pp. 1553-1555
-
-
Haskins, M.E.1
Aguirre, G.D.2
Jezyk, P.F.3
-
102
-
-
0008816796
-
Transplantation in animal model systems
-
Desnick R, ed, New York, NY: Churchill Livingston
-
Haskins M, Baker H, Birkenmeier E, et al. Transplantation in animal model systems. In: Desnick R, ed. Therapy of Genetic Disease. New York, NY: Churchill Livingston, 1992:183-201.
-
(1992)
Therapy of Genetic Disease
, pp. 183-201
-
-
Haskins, M.1
Baker, H.2
Birkenmeier, E.3
-
103
-
-
0021213609
-
Betaglucuronidase deficiency in a dog: A model for human mucopolysaccharidosis VII
-
Haskins ME, Desnick RJ, DiFerrante N, et al. Betaglucuronidase deficiency in a dog: a model for human mucopolysaccharidosis VII. Pediatr Res 1984; 10:980-4.
-
(1984)
Pediatr Res
, vol.10
, pp. 980-984
-
-
Haskins, M.E.1
Desnick, R.J.2
DiFerrante, N.3
-
104
-
-
0347046416
-
Proteoglycan gene families
-
Kleinman H, ed, Greenwich, CT: The Extracellular Matrix, JAI Press
-
Hassell JR, Blochberger TC, Rada JA, et al. Proteoglycan gene families. In: Kleinman H, ed. Advances in Molecular and Cell Biology, vol. 7. Greenwich, CT: The Extracellular Matrix, JAI Press, 1993.
-
(1993)
Advances in Molecular and Cell Biology
, vol.7
-
-
Hassell, J.R.1
Blochberger, T.C.2
Rada, J.A.3
-
106
-
-
0018621475
-
Characterization and biosynthesis of proteoglycans of corneal stroma from rhesus monkey
-
Hassell JR, Newsome DA, Hascall VC. Characterization and biosynthesis of proteoglycans of corneal stroma from rhesus monkey. J Biol Chem 1979; 254:12346-54.
-
(1979)
J Biol Chem
, vol.254
, pp. 12346-12354
-
-
Hassell, J.R.1
Newsome, D.A.2
Hascall, V.C.3
-
107
-
-
0019052592
-
Isolation of a heparan sulfate-containing proteoglycan from basement membrane
-
Hassell J, Robey PG, Barrach HJ, et al. Isolation of a heparan sulfate-containing proteoglycan from basement membrane. Proc Natl Acad Sci USA 1980; 77:4494-8.
-
(1980)
Proc Natl Acad Sci USA
, vol.77
, pp. 4494-4498
-
-
Hassell, J.1
Robey, P.G.2
Barrach, H.J.3
-
108
-
-
0021131462
-
Biosynthesis of sulphated macromolecules by rabbit lens epithelium. II. Relationship to basement membrane formation
-
Heathcote JG, Bruns RR, Orkin RW. Biosynthesis of sulphated macromolecules by rabbit lens epithelium. II. Relationship to basement membrane formation. J Cell Biol 1984; 99:861-9.
-
(1984)
J Cell Biol
, vol.99
, pp. 861-869
-
-
Heathcote, J.G.1
Bruns, R.R.2
Orkin, R.W.3
-
109
-
-
0018089574
-
Enzymic defect in Morquio’s disease: The specificity of N-acetyl-hexosamine sulfatases
-
Horwitz AL, Dorfman A. The enzymic defect in Morquio’s disease: the specificity of N-acetyl-hexosamine sulfatases. Biochem Biophys Res Comm 1978; 80:819-25.
-
(1978)
Biochem Biophys Res Comm
, vol.80
, pp. 819-825
-
-
Horwitz, A.L.1
Dorfman, A.2
-
110
-
-
0342683536
-
Bone marrow transplantation in mycopolysaccharidosis
-
Barranger JA, Brady, RO, eds, New York, NY: Academic Press
-
Hugh-Jones K, Hobbs J, Chambers D, et al. Bone marrow transplantation in mycopolysaccharidosis. In: Barranger JA, Brady, RO, eds. Molecular Basis of Lysosomal Storage Disorders. New York, NY: Academic Press, 1984:411-28.
-
(1984)
Molecular Basis of Lysosomal Storage Disorders
, pp. 411-428
-
-
Hugh-Jones, K.1
Hobbs, J.2
Chambers, D.3
-
111
-
-
0026697245
-
Human serglycin gene: Nucleotide sequence and methylation pattern in human promyelocytic leukemia HL-60 cells and T-lymphoblast Molt-4 cells
-
Humphries DE, Nicodemus CF, Schiller V, Stevens RL. The human serglycin gene: nucleotide sequence and methylation pattern in human promyelocytic leukemia HL-60 cells and T-lymphoblast Molt-4 cells. J Biol Chem 1992; 267:13558-63.
-
(1992)
J Biol Chem
, vol.267
, pp. 13558-13563
-
-
Humphries, D.E.1
Nicodemus, C.F.2
Schiller, V.3
Stevens, R.L.4
-
112
-
-
0000013140
-
A rare disease in two brothers
-
Hunter C. A rare disease in two brothers. Proc R Soc Med 1917; 10:104-16.
-
(1917)
Proc R Soc Med
, vol.10
, pp. 104-116
-
-
Hunter, C.1
-
113
-
-
34347152797
-
Über einen Type multipler Abartungen, vorwiegend am Skellettsystem
-
Hurler G. Über einen Type multipler Abartungen, vorwiegend am Skellettsystem. Z Kinderheilkd 1919; 24:220-34.
-
(1919)
Z Kinderheilkd
, vol.24
, pp. 220-234
-
-
Hurler, G.1
-
114
-
-
0022374318
-
Proteoglycans: Structure, function, and role in neoplasia
-
Iozzo RV. Proteoglycans: structure, function, and role in neoplasia. Lab Invest 1985; 53:373-96.
-
(1985)
Lab Invest
, vol.53
, pp. 373-396
-
-
Iozzo, R.V.1
-
115
-
-
0027090482
-
Mapping of the versican proteoglycan gene (CSPG2) to the long arm of human chromosome 5 (5q12-5q14)
-
Iozzo RV, Naso MF, Cannizzaro LA, et al. Mapping of the versican proteoglycan gene (CSPG2) to the long arm of human chromosome 5 (5q12-5q14). Genomics 1992; 14:845-51.
-
(1992)
Genomics
, vol.14
, pp. 845-851
-
-
Iozzo, R.V.1
Naso, M.F.2
Cannizzaro, L.A.3
-
116
-
-
0031569823
-
Cerebroglycan, a developmentally regulated cell-surface heparan sulfate proteoglycan, is expressed on developing axons and growth cones
-
Ivins JK, Litwack ED, Kumbasar A, et al. Cerebroglycan, a developmentally regulated cell-surface heparan sulfate proteoglycan, is expressed on developing axons and growth cones. Dev Biol 1997; 184:320-32.
-
(1997)
Dev Biol
, vol.184
, pp. 320-332
-
-
Ivins, J.K.1
Litwack, E.D.2
Kumbasar, A.3
-
117
-
-
85057901190
-
Nomenclature of acid mucopolysaccharides
-
Jeanloz RW. The nomenclature of acid mucopolysaccharides. Arthritis Rheum 1960; 3:323-7.
-
(1960)
Arthritis Rheum
, vol.3
, pp. 323-327
-
-
Jeanloz, R.W.1
-
118
-
-
0018181273
-
Hurler/Scheie phenotype: Report of an inbred sibship with tapeto-retinal degeneration and electron-microscopic examination of the conjunctiva
-
Jensen OA, Pederson C, Schwartz M, et al. Hurler/Scheie phenotype: report of an inbred sibship with tapeto-retinal degeneration and electron-microscopic examination of the conjunctiva. Ophthalmologica 1978; 176:194-204.
-
(1978)
Ophthalmologica
, vol.176
, pp. 194-204
-
-
Jensen, O.A.1
Pederson, C.2
Schwartz, M.3
-
119
-
-
0037144516
-
A syndrome of joint laxity and impaired tendon integrity in lumican-and fibromodulin-deficient mice
-
Jepsen KJ, Wu F, Peragallo JH, et al. A syndrome of joint laxity and impaired tendon integrity in lumican-and fibromodulin-deficient mice. J Biol Chem 2002; 277:35532-40.
-
(2002)
J Biol Chem
, vol.277
, pp. 35532-35540
-
-
Jepsen, K.J.1
Wu, F.2
Peragallo, J.H.3
-
120
-
-
80755183079
-
Familial mental deficiency akin to amaurotic idiocy and gargoylism: An apparently new type
-
Jervis GA. Familial mental deficiency akin to amaurotic idiocy and gargoylism: an apparently new type. Arch Neurol Psychiatr 1942; 47:943-61.
-
(1942)
Arch Neurol Psychiatr
, vol.47
, pp. 943-961
-
-
Jervis, G.A.1
-
121
-
-
0242510198
-
Histopathologic differentiation of granular, macular and lattice dystrophies of the cornea
-
Jones ST, Zimmerman LE. Histopathologic differentiation of granular, macular and lattice dystrophies of the cornea. Am J Ophthalmol 1961; 51:394-410.
-
(1961)
Am J Ophthalmol
, vol.51
, pp. 394-410
-
-
Jones, S.T.1
Zimmerman, L.E.2
-
122
-
-
0025879758
-
Cell-free translation and characterization of corneal keratan sulfate proteoglycan core proteins
-
Jost CJ, Funderburgh JL, Mann M, et al. Cell-free translation and characterization of corneal keratan sulfate proteoglycan core proteins. J Biol Chem 1991; 266:13336-41.
-
(1991)
J Biol Chem
, vol.266
, pp. 13336-13341
-
-
Jost, C.J.1
Funderburgh, J.L.2
Mann, M.3
-
123
-
-
0018601746
-
Hurler-Scheie phenotype: A report of two pairs of inbred sibs
-
Kaibara N, Eguchi M, Shibata K, Takugishi K. Hurler-Scheie phenotype: a report of two pairs of inbred sibs. Hum Genet 1979; 53:37-41.
-
(1979)
Hum Genet
, vol.53
, pp. 37-41
-
-
Kaibara, N.1
Eguchi, M.2
Shibata, K.3
Takugishi, K.4
-
124
-
-
0016316882
-
Hurler/Scheie genetic compound (mucopolysaccharidosis IH/IS) in Japanese brothers
-
Kajii T, Matsuda I, Ohsawa T, et al. Hurler/Scheie genetic compound (mucopolysaccharidosis IH/IS) in Japanese brothers. Clin Genet 1974; 6:394-400.
-
(1974)
Clin Genet
, vol.6
, pp. 394-400
-
-
Kajii, T.1
Matsuda, I.2
Ohsawa, T.3
-
125
-
-
0023038539
-
Light and electron microscopic studies of the cornea in systemic mucopolysaccharidosis, type I-HS
-
Kameen A, Jr, Maumenee IH, Green WR. Light and electron microscopic studies of the cornea in systemic mucopolysaccharidosis, type I-HS. Cornea 1986; 5:107-114.
-
(1986)
Cornea
, vol.5
, pp. 107-114
-
-
Kameen, A.1
Maumenee, I.H.2
Green, W.R.3
-
127
-
-
0035021908
-
Cell surface glypicans are low-affinity endostatin receptors
-
Karumanchi SA, Jha V, Ramchandran R, et al. Cell surface glypicans are low-affinity endostatin receptors. Molec Cell 2001; 7:811-22.
-
(2001)
Molec Cell
, vol.7
, pp. 811-822
-
-
Karumanchi, S.A.1
Jha, V.2
Ramchandran, R.3
-
128
-
-
0017143491
-
Ocular manifestations and pathology of systemic mucopolysaccharidoses
-
Kenyon KR. Ocular manifestations and pathology of systemic mucopolysaccharidoses. Birth Defects 1976; 12:133-53.
-
(1976)
Birth Defects
, vol.12
, pp. 133-153
-
-
Kenyon, K.R.1
-
129
-
-
0015348792
-
Systemic mucopolysaccharidoses: Ultrastructural and histochemical studies of conjunctiva and skin
-
Kenyon KR, Quigley HA, Hussels IE, Wyllie RG. The systemic mucopolysaccharidoses: ultrastructural and histochemical studies of conjunctiva and skin. Am J Ophthalmol 1972; 73:811-33.
-
(1972)
Am J Ophthalmol
, vol.73
, pp. 811-833
-
-
Kenyon, K.R.1
Quigley, H.A.2
Hussels, I.E.3
Wyllie, R.G.4
-
130
-
-
0015337444
-
Ocular pathology of the Maroteaux-Lamy syndrome (systemic mucopolysaccharidosis type VI): Histologic and ultrastructural report of two cases
-
Kenyon KR, Topping TM, Green WR, Maumenee AE. Ocular pathology of the Maroteaux-Lamy syndrome (systemic mucopolysaccharidosis type VI): histologic and ultrastructural report of two cases. Am J Ophthalmol 1972; 73:718-41.
-
(1972)
Am J Ophthalmol
, vol.73
, pp. 718-741
-
-
Kenyon, K.R.1
Topping, T.M.2
Green, W.R.3
Maumenee, A.E.4
-
131
-
-
0026409724
-
Molecular biology of heparan sulfate fibroblast growth factor receptors
-
Kiefer MC, Ishihara M, Swiedler SJ, et al. The molecular biology of heparan sulfate fibroblast growth factor receptors. Ann NY Acad Sci 1991; 638:167-76.
-
(1991)
Ann NY Acad Sci
, vol.638
, pp. 167-176
-
-
Kiefer, M.C.1
Ishihara, M.2
Swiedler, S.J.3
-
132
-
-
0013993770
-
L’histochimie et l’ultrastructure de la cornée dans un cas de gargoylisme
-
Klika E, Kloucek F. L’histochimie et l’ultrastructure de la cornée dans un cas de gargoylisme. Ophthalmologica 1966; 151:568-79.
-
(1966)
Ophthalmologica
, vol.151
, pp. 568-579
-
-
Klika, E.1
Kloucek, F.2
-
133
-
-
0017585641
-
Cornea-structure and macromolecules in health and disease: A review
-
Klintworth GK. The cornea-structure and macromolecules in health and disease: a review. Am J Pathol 1977; 89:719-808.
-
(1977)
Am J Pathol
, vol.89
, pp. 719-808
-
-
Klintworth, G.K.1
-
134
-
-
0019394315
-
Difference between glycosaminoglycans synthesized by corneal and cutaneous fibroblasts in culture
-
Klintworth GK, Smith CF. Difference between glycosaminoglycans synthesized by corneal and cutaneous fibroblasts in culture. Lab Invest 1981; 44:553-9.
-
(1981)
Lab Invest
, vol.44
, pp. 553-559
-
-
Klintworth, G.K.1
Smith, C.F.2
-
135
-
-
33644855187
-
CHST6 mutations in North American subjects with macular corneal dystrophy: A comprehensive molecular genetic review
-
Klintworth GK, Smith CF, Bowling BL: CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic review. Molec Vis 2006; 12:159-76.
-
(2006)
Molec Vis
, vol.12
, pp. 159-176
-
-
Klintworth, G.K.1
Smith, C.F.2
Bowling, B.L.3
-
136
-
-
0000028874
-
Macular corneal dystrophy: An inherited acid mucopolysaccharide storage disease of the corneal fibroblast
-
Klintworth GK, Vogel FS. Macular corneal dystrophy: an inherited acid mucopolysaccharide storage disease of the corneal fibroblast. Am J Pathol 1964; 45:565-86.
-
(1964)
Am J Pathol
, vol.45
, pp. 565-586
-
-
Klintworth, G.K.1
Vogel, F.S.2
-
137
-
-
0014217196
-
Structural studies on heparitin sulfate of normal and Hurler tissues
-
Knecht J, Cifonelli JA, Dorfman A. Structural studies on heparitin sulfate of normal and Hurler tissues. J Biol Chem 1967; 242:4652-61.
-
(1967)
J Biol Chem
, vol.242
, pp. 4652-4661
-
-
Knecht, J.1
Cifonelli, J.A.2
Dorfman, A.3
-
138
-
-
0026756376
-
Molecular cloning and expression of two distinct cDNA-encoding heparan sulfate proteoglycan core proteins from a rat endothelial cell line
-
Kojima T, Shworak NW, Rosenberg RD. Molecular cloning and expression of two distinct cDNA-encoding heparan sulfate proteoglycan core proteins from a rat endothelial cell line. J Biol Chem 1992; 267:4870-7.
-
(1992)
J Biol Chem
, vol.267
, pp. 4870-4877
-
-
Kojima, T.1
Shworak, N.W.2
Rosenberg, R.D.3
-
140
-
-
0015500766
-
Sanfilippo A corrective factor:Purification and mode of action
-
Kresse H, Neufeld EF. The Sanfilippo A corrective factor:purification and mode of action. J Biol Chem 1972; 247:2164-70.
-
(1972)
J Biol Chem
, vol.247
, pp. 2164-2170
-
-
Kresse, H.1
Neufeld, E.F.2
-
141
-
-
58149444507
-
Hurler’s syndrome (gargoylism):A summary of literature and report of case with autopsy findings
-
Kressler RJ, Aegerter EE. Hurler’s syndrome (gargoylism):a summary of literature and report of case with autopsy findings. J Pediatr 1938; 12:579-91.
-
(1938)
J Pediatr
, vol.12
, pp. 579-591
-
-
Kressler, R.J.1
Aegerter, E.E.2
-
142
-
-
0021683336
-
Bone-marrow transplantation in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI)
-
Krivit W, Pierpoint ME, Ayaz K, et al. Bone-marrow transplantation in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). N Eng J Med 1984; 311:1606-11.
-
(1984)
N Eng J Med
, vol.311
, pp. 1606-1611
-
-
Krivit, W.1
Pierpoint, M.E.2
Ayaz, K.3
-
143
-
-
0026071193
-
Proteoglycans in the mouse interphotoreceptor matrix. IV Retinal synthesis of chondroitin sulfate proteoglycan
-
Landers RA, Tawara A., Varner HH, Hollyfield JG. Proteoglycans in the mouse interphotoreceptor matrix. IV Retinal synthesis of chondroitin sulfate proteoglycan. Exp Eye Res 1991; 52:65-74.
-
(1991)
Exp Eye Res
, vol.52
, pp. 65-74
-
-
Landers, R.A.1
Tawara, A.2
Varner, H.H.3
Hollyfield, J.G.4
-
144
-
-
0020604867
-
Ocular histopathology and ultrastructure of Sanfilippo’s syndrome, type III B
-
Lavery MA, Green WR, Jabs EW, et al. Ocular histopathology and ultrastructure of Sanfilippo’s syndrome, type III B. Arch Ophthalmol 1983; 101:1263-74.
-
(1983)
Arch Ophthalmol
, vol.101
, pp. 1263-1274
-
-
Lavery, M.A.1
Green, W.R.2
Jabs, E.W.3
-
145
-
-
85057901172
-
Phenotypic variation in alpha-L-iduronidase deficiency, letter to the editor
-
Leisti J, Rimoin DL, Kaback MM, et al. Phenotypic variation in alpha-L-iduronidase deficiency, letter to the editor. Lancet 1975; 1:1344.
-
(1975)
Lancet
, vol.1
, pp. 1344
-
-
Leisti, J.1
Rimoin, D.L.2
Kaback, M.M.3
-
146
-
-
0026663405
-
Cdna clone to chick corneal chondroitin/dermatan sulfate proteoglycan reveals identity to decorin
-
Li W, Vergnes JP, Cornuet PK, Hassell JR. cDNA clone to chick corneal chondroitin/dermatan sulfate proteoglycan reveals identity to decorin. Arch. Biochem. Biophys. 1992; 296:190-7.
-
(1992)
Arch. Biochem. Biophys.
, vol.296
, pp. 190-197
-
-
Li, W.1
Vergnes, J.P.2
Cornuet, P.K.3
Hassell, J.R.4
-
147
-
-
0015549360
-
Structure and function of the lysosomes of human fibroblasts in culture: Dependence on medium pH
-
Lie SO, Schofield BH, Taylor HA Jr, Doty SB. Structure and function of the lysosomes of human fibroblasts in culture: dependence on medium pH. Pediatr Res 1973; 7:13-9.
-
(1973)
Pediatr Res
, vol.7
, pp. 13-19
-
-
Lie, S.O.1
Schofield, B.H.2
Taylor, H.A.3
Doty, S.B.4
-
148
-
-
0025987832
-
Structure and expression of the membrane proteoglycan betaglycan, a component of the TGF-beta receptor system
-
Lopez-Casillas F, Cheifetz S, Doody J, et al. Structure and expression of the membrane proteoglycan betaglycan, a component of the TGF-beta receptor system. Cell 1991; 67:785-95.
-
(1991)
Cell
, vol.67
, pp. 785-795
-
-
Lopez-Casillas, F.1
Cheifetz, S.2
Doody, J.3
-
149
-
-
0035853783
-
Identification and characterization of asporin: A novel member of the leucine-rich repeat protein family closely related to decorin and biglycan
-
Lorenzo P, Aspberg A, Onnerfjord P, et al. Identification and characterization of asporin: a novel member of the leucine-rich repeat protein family closely related to decorin and biglycan. J Biol Chem 2001; 276:12201-11.
-
(2001)
J Biol Chem
, vol.276
, pp. 12201-12211
-
-
Lorenzo, P.1
Aspberg, A.2
Onnerfjord, P.3
-
150
-
-
0022374005
-
Ocular histopathology of systemic mucopolysaccharidosis, type II-A (Hunter syndrome, severe)
-
McDonnell JM, Green WR, Maumenee IH. Ocular histopathology of systemic mucopolysaccharidosis, type II-A (Hunter syndrome, severe). Ophthalmology 1985; 92:1772-9.
-
(1985)
Ophthalmology
, vol.92
, pp. 1772-1779
-
-
McDonnell, J.M.1
Green, W.R.2
Maumenee, I.H.3
-
152
-
-
0015495731
-
Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses
-
McKusick VA, Howell RR, Hussels IE, et al. Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses. Lancet 1972; 1:993-6.
-
(1972)
Lancet
, vol.1
, pp. 993-996
-
-
McKusick, V.A.1
Howell, R.R.2
Hussels, I.E.3
-
153
-
-
0014545151
-
Gargoylism associated with optic atrophy
-
Mailer C. Gargoylism associated with optic atrophy. Can J Ophthalmol 1969; 4:266-71.
-
(1969)
Can J Ophthalmol
, vol.4
, pp. 266-271
-
-
Mailer, C.1
-
154
-
-
0025240364
-
Sequence of human syndecan indicates a novel gene family of integral
-
Mali M, Jaakkola P, Arvilommi AM, Jalkanen M. Sequence of human syndecan indicates a novel gene family of integral. J Biol Chem 1990; 265:6884-9.
-
(1990)
J Biol Chem
, vol.265
, pp. 6884-6889
-
-
Mali, M.1
Jaakkola, P.2
Arvilommi, A.M.3
Jalkanen, M.4
-
155
-
-
0025045956
-
Immunofluorescence study of corneal wound healing after excimer laser anterior keratectomy in the monkey eye
-
Malley DS, Steinert RF, Puliafito CA, Dobi ET. Immunofluorescence study of corneal wound healing after excimer laser anterior keratectomy in the monkey eye. Arch Ophthalmol 1990; 108:1316-22.
-
(1990)
Arch Ophthalmol
, vol.108
, pp. 1316-1322
-
-
Malley, D.S.1
Steinert, R.F.2
Puliafito, C.A.3
Dobi, E.T.4
-
156
-
-
0015922851
-
Un nouveau type de mucopolysaccharidose avec athétose et elimination urinaire de kératin-sulfate
-
Maroteaux P. Un nouveau type de mucopolysaccharidose avec athétose et elimination urinaire de kératin-sulfate. Presse Med 1973; 81:975-9.
-
(1973)
Presse Med
, vol.81
, pp. 975-979
-
-
Maroteaux, P.1
-
157
-
-
0001509153
-
Une nouvelle dysotose avec élimination urinaire de chondroitinesulfate B
-
Maroteaux P, Lévêque B, Marie J, Lamy M. Une nouvelle dysotose avec élimination urinaire de chondroitinesulfate B. Presse Med 1963; 71:1849-52.
-
(1963)
Presse Med
, vol.71
, pp. 1849-1852
-
-
Maroteaux, P.1
Lévêque, B.2
Marie, J.3
Lamy, M.4
-
158
-
-
0023503414
-
Laminin and other basement membrane components
-
Martin GR, Timpl R. Laminin and other basement membrane components. Annul Rev Cell Bio 1987; 3:57-85.
-
(1987)
Annul Rev Cell Bio
, vol.3
, pp. 57-85
-
-
Martin, G.R.1
Timpl, R.2
-
159
-
-
0024507583
-
Partial primary structure of the 48-and 90-kilodalton core proteins of the cell surface-associated heparan sulfate proteoglycans of lung fibroblasts: Prediction of an integral membrane domain and evidence for multiple distinct core proteins at the cell surface of human lung fibroblasts
-
Marynen P, Zhang J, Cassiman J, et al. Partial primary structure of the 48-and 90-kilodalton core proteins of the cell surface-associated heparan sulfate proteoglycans of lung fibroblasts: prediction of an integral membrane domain and evidence for multiple distinct core proteins at the cell surface of human lung fibroblasts. J Biol Chem 1989; 264:7017-24.
-
(1989)
J Biol Chem
, vol.264
, pp. 7017-7024
-
-
Marynen, P.1
Zhang, J.2
Cassiman, J.3
-
160
-
-
0016314137
-
Morquio’s syndrome: Deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfatase
-
Matalon R, Arbogast B, Justice P, et al. Morquio’s syndrome: deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfatase. Biochem Biophys Res Commun 1974; 61:709-15.
-
(1974)
Biochem Biophys Res Commun
, vol.61
, pp. 709-715
-
-
Matalon, R.1
Arbogast, B.2
Justice, P.3
-
161
-
-
0013958522
-
Hurler’s syndrome: Biosynthesis of acid mucopolysaccharides in tissue culture
-
Matalon R, Dorfman A. Hurler’s syndrome: biosynthesis of acid mucopolysaccharides in tissue culture. Proc Natl Acad Sci USA 1966; 56:1310-6.
-
(1966)
Proc Natl Acad Sci USA
, vol.56
, pp. 1310-1316
-
-
Matalon, R.1
Dorfman, A.2
-
162
-
-
0014938904
-
Ultrastructural observations of the cornea of Hurler’s syndrome
-
Matsuda H, Satake Y, Katsumata H. Ultrastructural observations of the cornea of Hurler’s syndrome. Acta Soc Ophthalmol Jap 1970; 74:47-56.
-
(1970)
Acta Soc Ophthalmol Jap
, vol.74
, pp. 47-56
-
-
Matsuda, H.1
Satake, Y.2
Katsumata, H.3
-
163
-
-
0014596282
-
Biochemistry and biology of mucopolysaccharides
-
Meyer K. Biochemistry and biology of mucopolysaccharides. Am J Med 1969; 47:664-72.
-
(1969)
Am J Med
, vol.47
, pp. 664-672
-
-
Meyer, K.1
-
164
-
-
0024493131
-
Analysis of the proteoglycans synthesized by corneal explants from embryonic chicken. II. Structural characterization of the keratan sulfate and dermatan sulfate proteoglycans from corneal stroma
-
Midura, RJ, Hascall, VC. Analysis of the proteoglycans synthesized by corneal explants from embryonic chicken. II. Structural characterization of the keratan sulfate and dermatan sulfate proteoglycans from corneal stroma. J Biol Chem 1989; 264:1423-30.
-
(1989)
J Biol Chem
, vol.264
, pp. 1423-1430
-
-
Midura, R.J.1
Hascall, V.C.2
-
165
-
-
24644524228
-
Identification of a novel spice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome
-
Miyamoto T, Inoue H, Sakamoto Y, et al. Identification of a novel spice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome. Invest Ophthalmol Vis Sci 2005; 46:2726-35.
-
(2005)
Invest Ophthalmol Vis Sci
, vol.46
, pp. 2726-2735
-
-
Miyamoto, T.1
Inoue, H.2
Sakamoto, Y.3
-
166
-
-
0026758187
-
Primary structure of the human heparan sulfate proteoglycan from basement membrane (HSPG2/perlecan). A chimeric molecule with multiple domains homologous to the low density lipoprotein receptor, laminin, neural cell adhesion molecules, and epidermal growth factor
-
Murdoch AD, Dodge GR, Cohen I, et al. Primary structure of the human heparan sulfate proteoglycan from basement membrane (HSPG2/perlecan). A chimeric molecule with multiple domains homologous to the low density lipoprotein receptor, laminin, neural cell adhesion molecules, and epidermal growth factor. J Biol Chem 1992; 267:8544-57.
-
(1992)
J Biol Chem
, vol.267
, pp. 8544-8557
-
-
Murdoch, A.D.1
Dodge, G.R.2
Cohen, I.3
-
167
-
-
0026346921
-
Proteoglycan synthesis in cultures of murine retinal neurons and photoreceptors
-
Murillo-Lopez F, Politi L, Adler R, Hewitt AT. Proteoglycan synthesis in cultures of murine retinal neurons and photoreceptors. Cell Mol Neurobiol 1991; 11:579-91.
-
(1991)
Cell Mol Neurobiol
, vol.11
, pp. 579-591
-
-
Murillo-Lopez, F.1
Politi, L.2
Adler, R.3
Hewitt, A.T.4
-
168
-
-
0021992993
-
Clearing of cornea after perforating keratoplasty in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) (letter)
-
Naumann G. Clearing of cornea after perforating keratoplasty in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) (letter). N Engl J Med 1985; 312:995.
-
(1985)
N Engl J Med
, vol.312
, pp. 995
-
-
Naumann, G.1
-
169
-
-
0015602967
-
Replacement of genotype-specific proteins in mucopolysaccharidoses
-
Bergsma D, Desnick RJ, Berlohr RW, Krivit W, eds, Baltimore, MD: Williams & Wilkins
-
Neufeld EF. Replacement of genotype-specific proteins in mucopolysaccharidoses. In: Bergsma D, Desnick RJ, Berlohr RW, Krivit W, eds. Enzyme Therapy in Genetic Diseases. Baltimore, MD: Williams & Wilkins, 1973:27-30.
-
(1973)
Enzyme Therapy in Genetic Diseases
, pp. 27-30
-
-
Neufeld, E.F.1
-
170
-
-
0015212966
-
Corrective factors for inborn errors of mucopolysaccharide metabolism
-
Neufeld EF, Cantz MJ. Corrective factors for inborn errors of mucopolysaccharide metabolism. Ann NY Acad Sci 1971; 179:580-7.
-
(1971)
Ann NY Acad Sci
, vol.179
, pp. 580-587
-
-
Neufeld, E.F.1
Cantz, M.J.2
-
171
-
-
0000820862
-
Mucopolysaccharidoses
-
Scriver CR, Beudet AL, Sly WS, Valle D, eds, New York, NY: McGraw-Hill
-
Neufeld EF, Muenzer J. The mucopolysaccharidoses. In:Scriver CR, Beudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease, vol. 2. New York, NY: McGraw-Hill, 1989:1565-87.
-
(1989)
The Metabolic Basis of Inherited Disease
, vol.2
, pp. 1565-1587
-
-
Neufeld, E.F.1
Muenzer, J.2
-
173
-
-
0008711556
-
Lipochondrodystrophy (gargoylism):Pathologic findings in five eyes of three patients
-
Newell FW, Koistinen A. Lipochondrodystrophy (gargoylism):pathologic findings in five eyes of three patients. Arch Ophthalmol 1955; 53:45-62.
-
(1955)
Arch Ophthalmol
, vol.53
, pp. 45-62
-
-
Newell, F.W.1
Koistinen, A.2
-
175
-
-
0025008986
-
There are two major types of skeletal keratan sulphates
-
Nieduszynski IA, Huckerby TN, Dickenson JM, et al. There are two major types of skeletal keratan sulphates. Biochem J 1990; 271:243-5.
-
(1990)
Biochem J
, vol.271
, pp. 243-245
-
-
Nieduszynski, I.A.1
Huckerby, T.N.2
Dickenson, J.M.3
-
176
-
-
0032531253
-
Identification of a novel gene (ECM2) encoding a putative extracellular matrix protein expressed predominantly in adipose and femalespecific tissues and its chromosomal localization to 9q22.3
-
Nishiu J, Tanaka T, Nakamura Y. Identification of a novel gene (ECM2) encoding a putative extracellular matrix protein expressed predominantly in adipose and femalespecific tissues and its chromosomal localization to 9q22.3. Genomics 1998; 52:378-81.
-
(1998)
Genomics
, vol.52
, pp. 378-381
-
-
Nishiu, J.1
Tanaka, T.2
Nakamura, Y.3
-
177
-
-
0007522007
-
A sex-linked type of gargoylism
-
Njå A. A sex-linked type of gargoylism. Acta Pediatr. 1946; 33:267-86.
-
(1946)
Acta Pediatr.
, vol.33
, pp. 267-286
-
-
Njå, A.1
-
178
-
-
0026317977
-
Complete sequence of perlecan, a basement membrane heparan sulfate proteoglycan, reveals extensive similarity with laminin A chain, low density lipoprotein-receptor, and the neural cell adhesion molecule
-
Noonan DM, Fulle A, Valente P, et al. The complete sequence of perlecan, a basement membrane heparan sulfate proteoglycan, reveals extensive similarity with laminin A chain, low density lipoprotein-receptor, and the neural cell adhesion molecule. J Biol Chem 1991; 266:22939-47.
-
(1991)
J Biol Chem
, vol.266
, pp. 22939-22947
-
-
Noonan, D.M.1
Fulle, A.2
Valente, P.3
-
179
-
-
0016200785
-
Maroteaux-Lamy disease (mucopolysaccharidosis VI), subtype A: Deficiency of a N-acetyl-galactosamine-4-sulfatase
-
O’Brien JF, Cantz M, Spranger J. Maroteaux-Lamy disease (mucopolysaccharidosis VI), subtype A: deficiency of a N-acetyl-galactosamine-4-sulfatase. Biochem Biophys Res Commun 1974; 60:1170-7.
-
(1974)
Biochem Biophys Res Commun
, vol.60
, pp. 1170-1177
-
-
O’Brien, J.F.1
Cantz, M.2
Spranger, J.3
-
180
-
-
0026080178
-
Chromosome mapping of the murine syndecan gene
-
Oettinger HF, Streeter H, Lose E, et al. Chromosome mapping of the murine syndecan gene. Genomics 1991; 11:334-8.
-
(1991)
Genomics
, vol.11
, pp. 334-338
-
-
Oettinger, H.F.1
Streeter, H.2
Lose, E.3
-
181
-
-
19944423795
-
Aneurysmal bone cyst variant translocations upregulate USP6 transcription by promoter swapping with the ZNF9, COL1A1, TRAP150, and OMD genes
-
Oliveira AM, Perez AR, Cin PD, et al. Aneurysmal bone cyst variant translocations upregulate USP6 transcription by promoter swapping with the ZNF9, COL1A1, TRAP150, and OMD genes. Oncogene 2005; 24:3419-26.
-
(2005)
Oncogene
, vol.24
, pp. 3419-3426
-
-
Oliveira, A.M.1
Perez, A.R.2
Cin, P.D.3
-
182
-
-
0021358167
-
Golabi-Rosen syndrome: Report of a second family
-
Opitz JM. The Golabi-Rosen syndrome: report of a second family. Am J Med Genet 1984; 17:359-66.
-
(1984)
Am J Med Genet
, vol.17
, pp. 359-366
-
-
Opitz, J.M.1
-
183
-
-
33645966108
-
Two linked genes showing a similar timing of expression in mice
-
Paigen K, Noell WK. Two linked genes showing a similar timing of expression in mice. Nature 1961; 190:148-50.
-
(1961)
Nature
, vol.190
, pp. 148-150
-
-
Paigen, K.1
Noell, W.K.2
-
184
-
-
0033135066
-
GPC6, a novel member of the glypican gene family, encodes a product structurally related to GPC4 and is colocalized with GPC5 on human chromosome 13
-
Paine-Saunders S, Viviano BL, Sauders S. GPC6, a novel member of the glypican gene family, encodes a product structurally related to GPC4 and is colocalized with GPC5 on human chromosome 13. Genomics 1999; 57:455-8.
-
(1999)
Genomics
, vol.57
, pp. 455-458
-
-
Paine-Saunders, S.1
Viviano, B.L.2
Sauders, S.3
-
185
-
-
0034117963
-
Mutations in KERA, encoding keratacan, cause cornea plana
-
Pellegata NS, Dieguez-Lucena JL, Joensuu T, et al. Mutations in KERA, encoding keratacan, cause cornea plana. Nature Genet 2000; 25:91-5.
-
(2000)
Nature Genet
, vol.25
, pp. 91-95
-
-
Pellegata, N.S.1
Dieguez-Lucena, J.L.2
Joensuu, T.3
-
186
-
-
0014683590
-
Chondroitin-4-sulfate mucopolysaccharidosis:A new variant of Hunter’s syndrome
-
Philippart M, Sugarman GI. Chondroitin-4-sulfate mucopolysaccharidosis:a new variant of Hunter’s syndrome. Lancet 1969; 2:854.
-
(1969)
Lancet
, vol.2
, pp. 854
-
-
Philippart, M.1
Sugarman, G.I.2
-
187
-
-
0026742962
-
Molecular cloning of the major cell surface heparan sulfate proteoglycan from rat liver
-
Pierce A, Lyon M, Hampson IN, et al. Molecular cloning of the major cell surface heparan sulfate proteoglycan from rat liver. J Biol Chem 1992; 267:3894-900.
-
(1992)
J Biol Chem
, vol.267
, pp. 3894-3900
-
-
Pierce, A.1
Lyon, M.2
Hampson, I.N.3
-
188
-
-
13344261391
-
Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome
-
Pilia G, Hughes-Benzie RM, MacKenzie A, et al. Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. Nature Genet 1996; 12:241-7.
-
(1996)
Nature Genet
, vol.12
, pp. 241-247
-
-
Pilia, G.1
Hughes-Benzie, R.M.2
MacKenzie, A.3
-
190
-
-
0032561537
-
Characterization of the human neurocan gene, CSPG3
-
Prange CK, Pennacchio LA, Lieuallen K, et al. Characterization of the human neurocan gene, CSPG3. Gene 1998; 221:199-205.
-
(1998)
Gene
, vol.221
, pp. 199-205
-
-
Prange, C.K.1
Pennacchio, L.A.2
Lieuallen, K.3
-
191
-
-
84910314543
-
Glucosaminoglycans in human corneal buttons removed at keratoplasty
-
Praus R, Goldman JN. Glucosaminoglycans in human corneal buttons removed at keratoplasty. Ophthalmic Res 1971; 2:223-30.
-
(1971)
Ophthalmic Res
, vol.2
, pp. 223-230
-
-
Praus, R.1
Goldman, J.N.2
-
192
-
-
0026696005
-
Expression of decorin in human tissues and cell lines and defined chromosomal assignment of the gene locus (DCN)
-
Pulkkinen L, Alitalo T, Krusius T, Peltonen L. Expression of decorin in human tissues and cell lines and defined chromosomal assignment of the gene locus (DCN). Cytogenet. Cell Genet. 1992; 60:107-11.
-
(1992)
Cytogenet. Cell Genet.
, vol.60
, pp. 107-111
-
-
Pulkkinen, L.1
Alitalo, T.2
Krusius, T.3
Peltonen, L.4
-
193
-
-
0033762779
-
Complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich protein
-
Pusch CM, Zeitz C, Brandau O, et al. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich protein. Nature Gene 2000; 26:324-7.
-
(2000)
Nature Gene
, vol.26
, pp. 324-327
-
-
Pusch, C.M.1
Zeitz, C.2
Brandau, O.3
-
194
-
-
0025778974
-
Alteration of the stromal architecture and depletion of keratan sulphate proteoglycans in oedematous human corneas: Histological, immunochemical and X-ray diffraction evidence
-
Quantock AJ, Meek KM, Brittain P, et al. Alteration of the stromal architecture and depletion of keratan sulphate proteoglycans in oedematous human corneas: histological, immunochemical and X-ray diffraction evidence. Tissue Cell 1991; 23:593-606.
-
(1991)
Tissue Cell
, vol.23
, pp. 593-606
-
-
Quantock, A.J.1
Meek, K.M.2
Brittain, P.3
-
195
-
-
0015062946
-
Scheie syndrome and macular corneal dystrophy: An ultrastructural comparison of conjunctiva and skin
-
Quigley HA, Goldberg MF. Scheie syndrome and macular corneal dystrophy: an ultrastructural comparison of conjunctiva and skin. Arch Ophthalmol 1971; 85:553-64.
-
(1971)
Arch Ophthalmol
, vol.85
, pp. 553-564
-
-
Quigley, H.A.1
Goldberg, M.F.2
-
196
-
-
0016148555
-
Ultrastructural and histochemical studies of a newly recognized form of systemic mucopolysaccharidosis (Maroteaux-Lamy syndrome, mild phenotype)
-
Quigley HA, Kenyon KR. Ultrastructural and histochemical studies of a newly recognized form of systemic mucopolysaccharidosis (Maroteaux-Lamy syndrome, mild phenotype). Am J Ophthalmol 1974; 77:809-18.
-
(1974)
Am J Ophthalmol
, vol.77
, pp. 809-818
-
-
Quigley, H.A.1
Kenyon, K.R.2
-
198
-
-
0017629135
-
Nota anatomica-clinica: Sindroma de Scheie
-
Rasteiro A. Nota anatomica-clinica: sindroma de Scheie. Exp Ophthalmol 1977; 3:62-4.
-
(1977)
Exp Ophthalmol
, vol.3
, pp. 62-64
-
-
Rasteiro, A.1
-
199
-
-
0031791651
-
Large chondroitin sulphate proteoglycan versican in mammalian vitreous
-
Reardon A, Heinegard D, McLeod D. The large chondroitin sulphate proteoglycan versican in mammalian vitreous. Matrix Biol 1998; 17:325-33.
-
(1998)
Matrix Biol
, vol.17
, pp. 325-333
-
-
Reardon, A.1
Heinegard, D.2
McLeod, D.3
-
200
-
-
0026508978
-
Demonstration of a keratan sulfate-containing proteoglycan in atherosclerotic aorta
-
Robbins RA, Wagner WD, Register TC, Caterson B. Demonstration of a keratan sulfate-containing proteoglycan in atherosclerotic aorta. Arterioscler Thromb 1992; 12:83-91.
-
(1992)
Arterioscler Thromb
, vol.12
, pp. 83-91
-
-
Robbins, R.A.1
Wagner, W.D.2
Register, T.C.3
Caterson, B.4
-
201
-
-
25644435724
-
Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome
-
Rodriquez-Criado G, Mangano L, Segovia M, et al. Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome. Am J Med Genet 2005; 138A:272-7.
-
(2005)
Am J Med Genet
, vol.138A
, pp. 272-277
-
-
Rodriquez-Criado, G.1
Mangano, L.2
Segovia, M.3
-
202
-
-
0015407437
-
Five year maintenance of corneal graft normality in systemic mucopolysaccharidosis
-
Rosen DA, Edmison DR, Robertson DM. Five year maintenance of corneal graft normality in systemic mucopolysaccharidosis. Can J Ophthalmol 1972; 7:445-53.
-
(1972)
Can J Ophthalmol
, vol.7
, pp. 445-453
-
-
Rosen, D.A.1
Edmison, D.R.2
Robertson, D.M.3
-
203
-
-
0014305961
-
Keratoplasty and electron microscopy of the cornea in systemic mucopolysaccharidosis (Hurler’s disease)
-
Rosen DA, Haust MD, Yamashita T, Bryans AM. Keratoplasty and electron microscopy of the cornea in systemic mucopolysaccharidosis (Hurler’s disease). Can J Ophthalmol 1968; 3:218-30.
-
(1968)
Can J Ophthalmol
, vol.3
, pp. 218-230
-
-
Rosen, D.A.1
Haust, M.D.2
Yamashita, T.3
Bryans, A.M.4
-
204
-
-
33644791786
-
A novel homozygous MMP2 mutation in a family with Winchester syndrome
-
Rouzier C, Vanatka R, Bannwarth S, et al. A novel homozygous MMP2 mutation in a family with Winchester syndrome. Clin Genet 2006; 69:271-6.
-
(2006)
Clin Genet
, vol.69
, pp. 271-276
-
-
Rouzier, C.1
Vanatka, R.2
Bannwarth, S.3
-
205
-
-
0026586265
-
Light and electron microscopy of the cornea in systemic mucopolysaccharidosis type I-S (Scheie’s syndrome)
-
Rummelt V, Meyer HJ, Naumann GOH. Light and electron microscopy of the cornea in systemic mucopolysaccharidosis type I-S (Scheie’s syndrome). Cornea 1992; 11:86-92.
-
(1992)
Cornea
, vol.11
, pp. 86-92
-
-
Rummelt, V.1
Meyer, H.J.2
Naumann, G.O.H.3
-
206
-
-
0024150891
-
Structure and biology of proteoglycans
-
Ruoslahti E. Structure and biology of proteoglycans. Ann Rev Cell Biol 1988; 4:229-55.
-
(1988)
Ann Rev Cell Biol
, vol.4
, pp. 229-255
-
-
Ruoslahti, E.1
-
207
-
-
1842560376
-
Tenascin-R mediates activity-dependent recruitment of neuroblasts in the adult mouse forebrain
-
Saghatelyan A, de Chevigny A, Schachner M, Lledo P-M. Tenascin-R mediates activity-dependent recruitment of neuroblasts in the adult mouse forebrain. Nature Neurosci 2004; 7:37-356.
-
(2004)
Nature Neurosci
, vol.7
, pp. 37-356
-
-
Saghatelyan, A.1
de Chevigny, A.2
Schachner, M.3
Lledo, P.-M.4
-
208
-
-
0000646543
-
Mental retardation associated with acid mucopolysacchariduria (heparitin sulfate type)
-
Sanfilippo SJ, Podosin R, Langer LO, Good RA. Mental retardation associated with acid mucopolysacchariduria (heparitin sulfate type). Pediatr 1963; 63:837-8.
-
(1963)
Pediatr
, vol.63
, pp. 837-838
-
-
Sanfilippo, S.J.1
Podosin, R.2
Langer, L.O.3
Good, R.A.4
-
209
-
-
0024556678
-
Molecular cloning of syndecan, an integral membrane proteoglycan
-
Saunders S, Jalkanen M, O’Farrell S, Bernfield M. Molecular cloning of syndecan, an integral membrane proteoglycan. J Cell Biol 1989; 108:1547-56.
-
(1989)
J Cell Biol
, vol.108
, pp. 1547-1556
-
-
Saunders, S.1
Jalkanen, M.2
O’Farrell, S.3
Bernfield, M.4
-
211
-
-
23644456849
-
Matrix component biglycan is proinflammatory and signals through Toll-like receptors 4 and 2 in macrophages
-
Schaefer L, Babelova A, Kiss E, et al. The matrix component biglycan is proinflammatory and signals through Toll-like receptors 4 and 2 in macrophages. J Clin Invest 2005; 115:2223-33.
-
(2005)
J Clin Invest
, vol.115
, pp. 2223-2233
-
-
Schaefer, L.1
Babelova, A.2
Kiss, E.3
-
212
-
-
0001428039
-
A newly recognized forme fruste of Hurler’s disease (gargoylism)
-
Scheie HG, Hambrick GW Jr, Barness LA. A newly recognized forme fruste of Hurler’s disease (gargoylism). Am J Ophthalmol 1962; 53:753-69.
-
(1962)
Am J Ophthalmol
, vol.53
, pp. 753-769
-
-
Scheie, H.G.1
Hambrick, G.W.2
Barness, L.A.3
-
213
-
-
0026599612
-
Identification of chick corneal keratan sulfate proteoglycan precursor protein inwhole corneas and in cultured corneal fibroblasts
-
Schrecengost PK, Blochberger TC, Hassell JR. Identification of chick corneal keratan sulfate proteoglycan precursor protein inwhole corneas and in cultured corneal fibroblasts. Arch Biochem Biophys 1992; 292:54-61.
-
(1992)
Arch Biochem Biophys
, vol.292
, pp. 54-61
-
-
Schrecengost, P.K.1
Blochberger, T.C.2
Hassell, J.R.3
-
214
-
-
0025288016
-
Comparative chemical morphology of the mammalian cornea
-
Scott, JE, Bosworth, TR. The comparative chemical morphology of the mammalian cornea. Basic Appl Histochem 1990; 34:35-42.
-
(1990)
Basic Appl Histochem
, vol.34
, pp. 35-42
-
-
Scott, J.E.1
Bosworth, T.R.2
-
215
-
-
0023937483
-
Keratan sulphate and the ultrastructure of cornea and cartilage: A ‘stand-in’ for chondroitin in conditions of oxygen lack?
-
Scott, JE, Haigh, M. Keratan sulphate and the ultrastructure of cornea and cartilage: a ‘stand-in’ for chondroitin in conditions of oxygen lack? J Anat 1988; 158:95-108.
-
(1988)
J Anat
, vol.158
, pp. 95-108
-
-
Scott, J.E.1
Haigh, M.2
-
217
-
-
0023135453
-
Bone marrow transplantation in canine mucopolysaccharidosis I:Effects within the central nervous system
-
Shull RM, Hastings NE, Selcer RR, et al. Bone marrow transplantation in canine mucopolysaccharidosis I:Effects within the central nervous system. J Clin Invest 1987; 79:435-43.
-
(1987)
J Clin Invest
, vol.79
, pp. 435-443
-
-
Shull, R.M.1
Hastings, N.E.2
Selcer, R.R.3
-
218
-
-
0021361624
-
Morphologic and biochemical studies of canine mucopolysaccharidosis I
-
Shull R, Helman R, Spellacy E, Constantopoulos G. Morphologic and biochemical studies of canine mucopolysaccharidosis I Am J Pathol 1984; 114:487-95.
-
(1984)
Am J Pathol
, vol.114
, pp. 487-495
-
-
Shull, R.1
Helman, R.2
Spellacy, E.3
Constantopoulos, G.4
-
220
-
-
0015582263
-
Beta glucuronidase deficiency: Report of clinical, radiologic and biochemical features of a new mucopolysaccharidosis
-
Sly WS, Quinton BA, McAlister WH, Rimoin DL. Beta glucuronidase deficiency: report of clinical, radiologic and biochemical features of a new mucopolysaccharidosis. 1973; J Pediatr. 82:249-57.
-
(1973)
J Pediatr
, vol.82
, pp. 249-257
-
-
Sly, W.S.1
Quinton, B.A.2
McAlister, W.H.3
Rimoin, D.L.4
-
221
-
-
0019311859
-
Interactions between bovine cornea proteoglycans and collagen
-
Speizale P, Bardoni A, Balduini C. Interactions between bovine cornea proteoglycans and collagen. Biochem J 1980; 187:655-9.
-
(1980)
Biochem J
, vol.187
, pp. 655-659
-
-
Speizale, P.1
Bardoni, A.2
Balduini, C.3
-
222
-
-
0015273515
-
Systemic mucopolysaccharidoses
-
Spranger J. The systemic mucopolysaccharidoses. Ergeb Inn Med Kinderheilkd 1972; 32:165-265.
-
(1972)
Ergeb Inn Med Kinderheilkd
, vol.32
, pp. 165-265
-
-
Spranger, J.1
-
223
-
-
84941813478
-
Morphological aspects of the mucopolysaccharidoses
-
Holton JB, Ireland JT, eds, Baltimore, MD:University Park Press
-
Spranger J. Morphological aspects of the mucopolysaccharidoses. In: Holton JB, Ireland JT, eds. Inborn Errors of Skin, Hair and Connective Tissues. Baltimore, MD:University Park Press, 1975:39-65.
-
(1975)
Inborn Errors of Skin, Hair and Connective Tissues
, pp. 39-65
-
-
Spranger, J.1
-
224
-
-
0015137724
-
Chondroitin-4-sulphate mucopolysaccharidosis
-
Spranger J, Schuster W. Chondroitin-4-sulphate mucopolysaccharidosis. Helv Pediatr Acta 1971; 26:387-96.
-
(1971)
Helv Pediatr Acta
, vol.26
, pp. 387-396
-
-
Spranger, J.1
Schuster, W.2
-
225
-
-
0037063357
-
A novel repeat in the melanoma-associated chondroitin sulfate proteoglycan defies a new protein family
-
2002
-
Staub E, Hinzmann B, Rosenthal A. A novel repeat in the melanoma-associated chondroitin sulfate proteoglycan defies a new protein family. FEBS Lett. 2002; 527:114--118, 2002.
-
(2002)
FEBS Lett.
, vol.527
, pp. 114
-
-
Staub, E.1
Hinzmann, B.2
Rosenthal, A.3
-
226
-
-
0017228450
-
Iduronidase deficient mucopolysaccharidoses: Clinical and roentgenographic features
-
Stevenson RE, Howell RR, McKusick VA, et al. The iduronidase deficient mucopolysaccharidoses: clinical and roentgenographic features. Pediatrics 1976; 57:111-22.
-
(1976)
Pediatrics
, vol.57
, pp. 111-122
-
-
Stevenson, R.E.1
Howell, R.R.2
McKusick, V.A.3
-
227
-
-
0024428514
-
Retinal pigment epithelial glycosaminoglycan metabolism: Intracellular vs extracellular pathways
-
Stramm LE, Haskins ME, Aguirre G. Retinal pigment epithelial glycosaminoglycan metabolism: intracellular vs extracellular pathways. Invest Ophthalmol Vis Sci 1989; 30:2118-31.
-
(1989)
Invest Ophthalmol Vis Sci
, vol.30
, pp. 2118-2131
-
-
Stramm, L.E.1
Haskins, M.E.2
Aguirre, G.3
-
228
-
-
0025766022
-
Glycosaminoglycan and collagen metabolism in arylsulfatase B-deficient retinal pigment epithelium in vitro
-
Stramm L, Li W, Haskins M, Aguirre G. Glycosaminoglycan and collagen metabolism in arylsulfatase B-deficient retinal pigment epithelium in vitro. Invest Ophthalmol Vis Sci 1991; 32:2035-41.
-
(1991)
Invest Ophthalmol Vis Sci
, vol.32
, pp. 2035-2041
-
-
Stramm, L.1
Li, W.2
Haskins, M.3
Aguirre, G.4
-
229
-
-
0025363454
-
B-Glucuronidase mediated pathway essential for retinal pigment epithelial degradation of glycosaminoglycans. Disease expression and in vitro disease correction using retroviral mediated cDNA transfer
-
Stramm L, Wolfe J, Schuchman E, et al. b-Glucuronidase mediated pathway essential for retinal pigment epithelial degradation of glycosaminoglycans. Disease expression and in vitro disease correction using retroviral mediated cDNA transfer. Exp Eye Res 1990; 50:521-32.
-
(1990)
Exp Eye Res
, vol.50
, pp. 521-532
-
-
Stramm, L.1
Wolfe, J.2
Schuchman, E.3
-
230
-
-
33750906742
-
Spectrum of HSPG2 (perlecan) mutations in patents with Schwartz-Jampel syndrome
-
Stum M, Davoine C-S, Vicart S, et al. Spectrum of HSPG2 (perlecan) mutations in patents with Schwartz-Jampel syndrome. Hum Mutat 2006; 27:1082-91.
-
(2006)
Hum Mutat
, vol.27
, pp. 1082-1091
-
-
Stum, M.1
Davoine, C.-S.2
Vicart, S.3
-
231
-
-
0024309463
-
Ocular changes in the mucopolysaccharidoses after bone marrow transplantation:A preliminary report
-
Summers CG, Purple RL, Krivit W, et al. Ocular changes in the mucopolysaccharidoses after bone marrow transplantation:a preliminary report. Ophthalmology 1989; 96:977-85.
-
(1989)
Ophthalmology
, vol.96
, pp. 977-985
-
-
Summers, C.G.1
Purple, R.L.2
Krivit, W.3
-
232
-
-
0025880347
-
Expression of syndecan, a putative low affinity fibroblast growth factor receptor, in the early mouse embryo
-
Sutherland AE, Sanderson RD, Mayes M, et al. Expression of syndecan, a putative low affinity fibroblast growth factor receptor, in the early mouse embryo. Development 1991; 113:339-51.
-
(1991)
Development
, vol.113
, pp. 339-351
-
-
Sutherland, A.E.1
Sanderson, R.D.2
Mayes, M.3
-
233
-
-
0028172975
-
Localization of the human fibromodulin gene (FMOD) to chromosome 1q32 and completion of the cDNA sequence
-
Sztrovics R, Chen X-N, Grover J, et al. Localization of the human fibromodulin gene (FMOD) to chromosome 1q32 and completion of the cDNA sequence. Genomics 1994; 23:715-7.
-
(1994)
Genomics
, vol.23
, pp. 715-717
-
-
Sztrovics, R.1
Chen, X.-N.2
Grover, J.3
-
234
-
-
0017887433
-
Ultrastructural aspects of corneal fibrous tissue in the Scheie syndrome
-
Tabone E, Grimaud J-A, Peyrol S, et al. Ultrastructural aspects of corneal fibrous tissue in the Scheie syndrome. Virchows Arch [B] 1978; 27:63-7.
-
(1978)
Virchows Arch [B]
, vol.27
, pp. 63-67
-
-
Tabone, E.1
Grimaud, J.-A.2
Peyrol, S.3
-
235
-
-
84933847551
-
An abnormal ganglioside pattern from a gargoyle brain
-
Taghavy A, Salsman K, Ledeen R. An abnormal ganglioside pattern from a gargoyle brain. Fed Proc 1964; 23:163.
-
(1964)
Fed Proc
, vol.23
, pp. 163
-
-
Taghavy, A.1
Salsman, K.2
Ledeen, R.3
-
236
-
-
0014057740
-
Glycolipids of the brain in gargoylism
-
Taketomi T, Yamakawa T. Glycolipids of the brain in gargoylism. Jap J Exp Med 1967; 37:11-21.
-
(1967)
Jap J Exp Med
, vol.37
, pp. 11-21
-
-
Taketomi, T.1
Yamakawa, T.2
-
237
-
-
0034023781
-
Assignment of keratocan gene (KERA) to human chromosome band 12q22 by in situ hybridization
-
Tasheva ES, Pettanati M, von Kap-Her C, Conrad GW. Assignment of keratocan gene (KERA) to human chromosome band 12q22 by in situ hybridization. Cytogenet Cell Genet 2000; 88:244-5.
-
(2000)
Cytogenet Cell Genet
, vol.88
, pp. 244-245
-
-
Tasheva, E.S.1
Pettanati, M.2
von Kap-Her, C.3
Conrad, G.W.4
-
238
-
-
0034071299
-
Assignment of mimecan gene (OGN) to human chromosome band 9q22 by in situ hybridization
-
Tasheva ES, Pettenati M, von Kap-Her C, Conrad GW. Assignment of mimecan gene (OGN) to human chromosome band 9q22 by in situ hybridization. Cytogenet Cell Genet 2000; 88:326-7.
-
(2000)
Cytogenet Cell Genet
, vol.88
, pp. 326-327
-
-
Tasheva, E.S.1
Pettenati, M.2
von Kap-Her, C.3
Conrad, G.W.4
-
239
-
-
0024995203
-
Proteoglycans in the mouse interphotoreceptor matrix. III Changes during photoreceptor development and degeneration in the rds mutant
-
Tawara A, Hollyfield JG. Proteoglycans in the mouse interphotoreceptor matrix. III Changes during photoreceptor development and degeneration in the rds mutant. Exp Eye Res 1990; 51:301-15.
-
(1990)
Exp Eye Res
, vol.51
, pp. 301-315
-
-
Tawara, A.1
Hollyfield, J.G.2
-
240
-
-
0015121026
-
A mucopolysaccharidosis with increased urinary excretion of chondroitin-4-sulphate
-
Thompson GR, Nelson NA, Castor CW, Grobelny SL. A mucopolysaccharidosis with increased urinary excretion of chondroitin-4-sulphate. Ann Intern Med 1971; 75:421-6.
-
(1971)
Ann Intern Med
, vol.75
, pp. 421-426
-
-
Thompson, G.R.1
Nelson, N.A.2
Castor, C.W.3
Grobelny, S.L.4
-
241
-
-
0026101425
-
Circulating keratan sulfate: Marker of cartilage proteoglycan catabolism in osteoarthritis
-
Thonar EJ, Manicourt DM, Williams J, et al. Circulating keratan sulfate: marker of cartilage proteoglycan catabolism in osteoarthritis. J Rheumatol Suppl 1991; 27:24-6.
-
(1991)
J Rheumatol Suppl
, vol.27
, pp. 24-26
-
-
Thonar, E.J.1
Manicourt, D.M.2
Williams, J.3
-
242
-
-
0024602951
-
Proteoglycan biosynthesis by chick embryo retina glial-like cells
-
Threlked A, Adler R, Hewitt AT. Proteoglycan biosynthesis by chick embryo retina glial-like cells. Dev Biol 1989; 132:559-68.
-
(1989)
Dev Biol
, vol.132
, pp. 559-568
-
-
Threlked, A.1
Adler, R.2
Hewitt, A.T.3
-
243
-
-
0015107436
-
Ultrastructural ocular pathology of Hunter’s syndrome, systemic mucopolysaccharidosis type II
-
Topping TM, Kenyon KR, Goldberg MF, Maumenee AE. Ultrastructural ocular pathology of Hunter’s syndrome, systemic mucopolysaccharidosis type II. Arch Ophthalmol 1971; 86:164-77.
-
(1971)
Arch Ophthalmol
, vol.86
, pp. 164-177
-
-
Topping, T.M.1
Kenyon, K.R.2
Goldberg, M.F.3
Maumenee, A.E.4
-
244
-
-
0013948349
-
Contributo alla conoscenza della distrofia maculata del parenchima corneale (dystrophie mouchetée di François e Neetens)
-
Toselli C, Volpi U, Pirodda A. Contributo alla conoscenza della distrofia maculata del parenchima corneale (dystrophie mouchetée di François e Neetens). Ann Ottalmol 1966; 92:770-7.
-
(1966)
Ann Ottalmol
, vol.92
, pp. 770-777
-
-
Toselli, C.1
Volpi, U.2
Pirodda, A.3
-
245
-
-
0026652099
-
Fine mapping of the human biglycan (BGN) gene within the Xq28 region employing a hybrid cell panel
-
Traupe H, van den Ouweland AM, van Oost BA, et al. Fine mapping of the human biglycan (BGN) gene within the Xq28 region employing a hybrid cell panel. Genomics 1992; 13:481-3.
-
(1992)
Genomics
, vol.13
, pp. 481-483
-
-
Traupe, H.1
van den Ouweland, A.M.2
van Oost, B.A.3
-
246
-
-
0015550018
-
Macular dystrophy of the cornea:Ultrastructure of two cases
-
Tremblay M, Dubé I. Macular dystrophy of the cornea:ultrastructure of two cases. Can J Ophthalmol 1973; 8:47-53.
-
(1973)
Can J Ophthalmol
, vol.8
, pp. 47-53
-
-
Tremblay, M.1
Dubé, I.2
-
247
-
-
0018414387
-
Altérations de la cornée dans the maladie de Scheie (mucopolysaccharidose type 1-S). Etude ultrastructurale
-
Tremblay M, Dube I, Gagne R. Altérations de la cornée dans the maladie de Scheie (mucopolysaccharidose type 1-S). Etude ultrastructurale. J Fr Ophthalmol 1979; 2:193-7.
-
(1979)
J Fr Ophthalmol
, vol.2
, pp. 193-197
-
-
Tremblay, M.1
Dube, I.2
Gagne, R.3
-
248
-
-
0033022132
-
Mutations in HYAL1, a member of a trandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lyosomal disorder, mucopolysaccharidosis IX
-
Triggs-Raine B, Salo TJ, Zhang H, et al. Mutations in HYAL1, a member of a trandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lyosomal disorder, mucopolysaccharidosis IX. Proc Natl Acad Sci USA 1999; 96:6296-300.
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 6296-6300
-
-
Triggs-Raine, B.1
Salo, T.J.2
Zhang, H.3
-
249
-
-
0017154859
-
Application of electron microscopy to the study of errors of metabolism
-
Tripathi RC, Ashton N. Application of electron microscopy to the study of errors of metabolism. Birth Defects 1976; 12:69-104.
-
(1976)
Birth Defects
, vol.12
, pp. 69-104
-
-
Tripathi, R.C.1
Ashton, N.2
-
251
-
-
0035253193
-
Heparan sulfate:Decoding a dynamic multifunctional cell regulator
-
Turnbull J, Powell A, Guimond S. Heparan sulfate:decoding a dynamic multifunctional cell regulator. Trends Cell Biol 2001; 11:75-82.
-
(2001)
Trends Cell Biol
, vol.11
, pp. 75-82
-
-
Turnbull, J.1
Powell, A.2
Guimond, S.3
-
252
-
-
34250553781
-
Zur elektonmikroskopischen Pathomorphologie der Hirnrinde bei Gargoylismus
-
Uchimura Y, Toshima Y, Sekiya T. Zur elektonmikroskopischen Pathomorphologie der Hirnrinde bei Gargoylismus. Acta Neuropathol 1965; 4:476-90.
-
(1965)
Acta Neuropathol
, vol.4
, pp. 476-490
-
-
Uchimura, Y.1
Toshima, Y.2
Sekiya, T.3
-
253
-
-
0014386955
-
Abnormalities of lysosomal enzymes in mucopolysaccharidoses
-
van Hoof F, Hers HG. The abnormalities of lysosomal enzymes in mucopolysaccharidoses. Eur J Biochem 1968; 7:34-44.
-
(1968)
Eur J Biochem
, vol.7
, pp. 34-44
-
-
van Hoof, F.1
Hers, H.G.2
-
254
-
-
0028985568
-
Assignment of the human glypican gene (GPC1) to 2q35-q37 by fluorescence in situ hybridization
-
Vermeesch JR, Mertens G, David G, Marynen P. Assignment of the human glypican gene (GPC1) to 2q35-q37 by fluorescence in situ hybridization. Genomics 1995; 25:327-9.
-
(1995)
Genomics
, vol.25
, pp. 327-329
-
-
Vermeesch, J.R.1
Mertens, G.2
David, G.3
Marynen, P.4
-
255
-
-
0033578871
-
Glypican-6, a new member of the glycipan family of cell surface heparan sulfate proteoglycans
-
Veugelers M, De Cat B, Ceulemans H, et al. Glypican-6, a new member of the glycipan family of cell surface heparan sulfate proteoglycans. J Biol Chem 1999; 274:26968-77
-
(1999)
J Biol Chem
, vol.274
, pp. 26968-26977
-
-
Veugelers, M.1
De Cat, B.2
Ceulemans, H.3
-
256
-
-
0034701943
-
Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: Identification of loss-of-function mutations in the GPC3 gene
-
Veugelers M, De Cat B, Muyldermans SY, et al. Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene. Hum Molec Genet 2000; 9:1321-8.
-
(2000)
Hum Molec Genet
, vol.9
, pp. 1321-1328
-
-
Veugelers, M.1
De Cat, B.2
Muyldermans, S.Y.3
-
257
-
-
0031568877
-
Characterization of glypican-5 and chromosomal localization of human GPC5, a new member of the glypican family
-
Veugelers M, Vermeesch J, Reekmans G, et al. Characterization of glypican-5 and chromosomal localization of human GPC5, a new member of the glypican family. Genomics 1997; 40:24-30.
-
(1997)
Genomics
, vol.40
, pp. 24-30
-
-
Veugelers, M.1
Vermeesch, J.2
Reekmans, G.3
-
258
-
-
0032191961
-
GPC4, the gene for human K-glypican, flanks GPC3 on Xq26: Deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome
-
Veugelers M, Vermeesch J, Watanabe K, et al. GPC4, the gene for human K-glypican, flanks GPC3 on Xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome. Genomics 1998; 53:1-11.
-
(1998)
Genomics
, vol.53
, pp. 1-11
-
-
Veugelers, M.1
Vermeesch, J.2
Watanabe, K.3
-
259
-
-
0020059003
-
Enhancement of residual arylsulfatase B activity in feline mucopolysaccharidosis VI by thiol-induced subunit association
-
Vine D, McGovern M, Schuchman E, et al. Enhancement of residual arylsulfatase B activity in feline mucopolysaccharidosis VI by thiol-induced subunit association. J Clin Invest 1982; 69:294-302.
-
(1982)
J Clin Invest
, vol.69
, pp. 294-302
-
-
Vine, D.1
McGovern, M.2
Schuchman, E.3
-
260
-
-
0025139019
-
A murine model of mucopolysaccharidosis VII: Gross and microscopic findings in beta-glucuronidase-deficient mice
-
Vogler C, Birkenmeier EH, Sly WS, et al. A murine model of mucopolysaccharidosis VII: gross and microscopic findings in beta-glucuronidase-deficient mice. Am J Path 1990; 136:207-17.
-
(1990)
Am J Path
, vol.136
, pp. 207-217
-
-
Vogler, C.1
Birkenmeier, E.H.2
Sly, W.S.3
-
261
-
-
0013973837
-
Mucopolysaccharidosis type III: Morphologic and biochemical studies of two siblings with Sanfilippo syndrome
-
Wallace BJ, Kaplan D, Adachi M, et al. Mucopolysaccharidosis type III: morphologic and biochemical studies of two siblings with Sanfilippo syndrome. Arch Pathol 1966; 82:462-73.
-
(1966)
Arch Pathol
, vol.82
, pp. 462-473
-
-
Wallace, B.J.1
Kaplan, D.2
Adachi, M.3
-
262
-
-
0022535619
-
Bone marrow transplantation in the feline model of arylsulfatase B deficiency
-
Krivit W, Paul N, eds, New York, NY: Alan R. Liss
-
Wenger D, Gasper P, Thrall M, et al. Bone marrow transplantation in the feline model of arylsulfatase B deficiency. In: Krivit W, Paul N, eds. Bone Marrow Transplantation for Treatment of Lysosomal Storage Diseases. New York, NY: Alan R. Liss, 1986:177-86.
-
(1986)
Bone Marrow Transplantation for Treatment of Lysosomal Storage Diseases
, pp. 177-186
-
-
Wenger, D.1
Gasper, P.2
Thrall, M.3
-
263
-
-
0026441333
-
Structure and chromosomal localization of the human gene for a brain form of prostaglandin D-2 synthase
-
White DM, Mikol DD, Espinosa R, et al. Structure and chromosomal localization of the human gene for a brain form of prostaglandin D-2 synthase. J Biol Chem 1992; 267:23202-8.
-
(1992)
J Biol Chem
, vol.267
, pp. 23202-23208
-
-
White, D.M.1
Mikol, D.D.2
Espinosa, R.3
-
264
-
-
0022526817
-
Bone Marrow Transplantation for Hurler Syndrome: Assessment of Metabolic Correction
-
Krivit W, Paul N, eds, New York, NY: Alan R. Liss
-
Whitley C, Ramsey N, Kersey J, Krivit W. Bone Marrow Transplantation for Hurler Syndrome: Assessment of Metabolic Correction. In: Krivit W, Paul N, eds. Bone Marrow Transplantation for Treatment of Lysosomal Storage Diseases. New York, NY: Alan R. Liss, 1986:7-24.
-
(1986)
Bone Marrow Transplantation for Treatment of Lysosomal Storage Diseases
, pp. 7-24
-
-
Whitley, C.1
Ramsey, N.2
Kersey, J.3
Krivit, W.4
-
266
-
-
0014931229
-
Scheie and Hurler syndromes:Apparent identity of the biochemical defect
-
Wiesmann U, Neufeld EF. Scheie and Hurler syndromes:apparent identity of the biochemical defect. Science 1970; 169:72-4.
-
(1970)
Science
, vol.169
, pp. 72-74
-
-
Wiesmann, U.1
Neufeld, E.F.2
-
267
-
-
0014517703
-
A new mucopolysaccharidosis with skeletal deformities simulating rheumatoid arthritis
-
Winchester P, Grossman H, Lim WN, Danes BS. A new mucopolysaccharidosis with skeletal deformities simulating rheumatoid arthritis. Am J Roentgenol 1969; 106:121-8.
-
(1969)
Am J Roentgenol
, vol.106
, pp. 121-128
-
-
Winchester, P.1
Grossman, H.2
Lim, W.N.3
Danes, B.S.4
-
268
-
-
0025364186
-
Unusual mucopolysaccharide disorder with corneal and scleral involvement
-
Winterbotham CTC, Torczynski E, Horwitz AL, et al. Unusual mucopolysaccharide disorder with corneal and scleral involvement. Am J Ophthalmol 1990; 109:544-55.
-
(1990)
Am J Ophthalmol
, vol.109
, pp. 544-555
-
-
Winterbotham, C.T.C.1
Torczynski, E.2
Horwitz, A.L.3
-
269
-
-
0017199628
-
Alpha-L-iduronidase deficiency and possible Hurler-Scheie genetic compound
-
Winters PR, Harrod MJ, Molenich-Heetred SA, et al. Alpha-L-iduronidase deficiency and possible Hurler-Scheie genetic compound. Neurology 1976; 26:1003-7.
-
(1976)
Neurology
, vol.26
, pp. 1003-1007
-
-
Winters, P.R.1
Harrod, M.J.2
Molenich-Heetred, S.A.3
-
270
-
-
0025239382
-
Restoration of normal lysosomal function in mucopolysaccharidosis type VII cells by gene transfer
-
Wolfe J, Schuchman E, Stramm L, et al. Restoration of normal lysosomal function in mucopolysaccharidosis type VII cells by gene transfer. Proc Natl Acad Sci USA 1990; 87:2877-81.
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 2877-2881
-
-
Wolfe, J.1
Schuchman, E.2
Stramm, L.3
-
271
-
-
0025166128
-
Biochemical studies on human corneal proteoglycans: A comparison of normal and keratoconic eyes
-
Wollensak J, Buddecke E. Biochemical studies on human corneal proteoglycans: a comparison of normal and keratoconic eyes. Graefes Arch Clin Exp Ophthalmol 228:517-23.
-
Graefes Arch Clin Exp Ophthalmol
, vol.228
, pp. 517-523
-
-
Wollensak, J.1
Buddecke, E.2
-
272
-
-
33745902841
-
CSNB1 in Chinese families associated with novel mutations in NYX
-
Xiao X, Jia X, Guo X, et al. CSNB1 in Chinese families associated with novel mutations in NYX. J Hum Genet 2006; 51:634-40.
-
(2006)
J Hum Genet
, vol.51
, pp. 634-640
-
-
Xiao, X.1
Jia, X.2
Guo, X.3
-
273
-
-
0028233391
-
Molecular cloning of brevican, a novel brain proteoglycan of the aggregan/verican family
-
Yamada, H, Watanabe K, Shimonaka M, Tamaguchi, Y Molecular cloning of brevican, a novel brain proteoglycan of the aggregan/verican family. J. Biol. Chem. 1994; 269:10119-10126.
-
(1994)
J. Biol. Chem
, vol.269
, pp. 10119-10126
-
-
Yamada, H.1
Watanabe, K.2
Shimonaka, M.3
Tamaguchi, Y.4
-
274
-
-
0032414048
-
Clong and chromosomal mapping of the human gene of neuroglycan C (NGC). A neural transmembrane chondrotin sulfate proteoglycan with an EGF module
-
Yasuda Y, Tokita Y, Aono S, et al. Clong and chromosomal mapping of the human gene of neuroglycan C (NGC). A neural transmembrane chondrotin sulfate proteoglycan with an EGF module. Neurosci Res 1998; 32:313-22.
-
(1998)
Neurosci Res
, vol.32
, pp. 313-322
-
-
Yasuda, Y.1
Tokita, Y.2
Aono, S.3
-
275
-
-
0018363736
-
Synthesis of glycosaminoglycans by cultures of corneal stromal cells from patients with keratoconus
-
Yue BYJT, Baum JL, Silbert JE. The synthesis of glycosaminoglycans by cultures of corneal stromal cells from patients with keratoconus. J Clin Invest 1979; 63:545-51.
-
(1979)
J Clin Invest
, vol.63
, pp. 545-551
-
-
Yue, B.Y.J.T.1
Baum, J.L.2
Silbert, J.E.3
-
277
-
-
14044265664
-
Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2
-
Zankl A, Bonafe L, Calcaterra V, et al. Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2. Clin Genet 2005; 67:261-6.
-
(2005)
Clin Genet
, vol.67
, pp. 261-266
-
-
Zankl, A.1
Bonafe, L.2
Calcaterra, V.3
-
278
-
-
0024397823
-
Multiple domains of the large fibroblast proteoglycan versican
-
Zimmerman DR, Ruoslahti E. Multiple domains of the large fibroblast proteoglycan versican. EMBO J 1989; 8:2975-81.
-
(1989)
EMBO J
, vol.8
, pp. 2975-2981
-
-
Zimmerman, D.R.1
Ruoslahti, E.2
|