-
1
-
-
0034786695
-
Composition and structure of articular cartilage: A template for tissue repair
-
Poole AR, Kojima T, Yasuda T, Mwale F, Kobayashi M, Laverty S: Composition and structure of articular cartilage: a template for tissue repair. Clin Orthop 2001, 391:S153-S160.
-
(2001)
Clin. Orthop
, vol.391
-
-
Poole, A.R.1
Kojima, T.2
Yasuda, T.3
Mwale, F.4
Kobayashi, M.5
Laverty, S.6
-
2
-
-
0002798430
-
Cartilage in health and disease
-
Arthritis and Allied Conditions 14th edn. Edited by Koopman W. New York: Lippincott Williams and Wilkins
-
Poole AR: Cartilage in health and disease. In Arthritis and Allied Conditions. A Textbook of Rheumatology, 14th edn. Edited by Koopman W. New York: Lippincott Williams and Wilkins; 2001: 2260-2284.
-
(2001)
A Textbook of Rheumatology
, pp. 2260-2284
-
-
Poole, A.R.1
-
3
-
-
0034797664
-
Age-associated changes in cartilage matrix: Implications for tissue repair
-
Roughley PJ: Age-associated changes in cartilage matrix: implications for tissue repair. Clin Orthop 2001, 391:S153-160.
-
(2001)
Clin. Orthop
, vol.391
-
-
Roughley, P.J.1
-
4
-
-
0029925223
-
Genetic influences on osteoarthritis in women: A twin study
-
Spector TD, Cicuttini F, Baker J, Loughlin J, Hart D: Genetic influences on osteoarthritis in women: a twin study. BMJ 1996, 312:940-943.
-
(1996)
BMJ
, vol.312
, pp. 940-943
-
-
Spector, T.D.1
Cicuttini, F.2
Baker, J.3
Loughlin, J.4
Hart, D.5
-
5
-
-
0031748678
-
Evidence for a Mendelian gene in a segregation analysis of generalized radiographic osteoarthritis: The Framingham Study
-
Felson DT, Couropmitree NN, Chaisson CE, Hannan MT, Zhang Y, McAlindon TE, LaValley M, Levy D, Myers RH: Evidence for a Mendelian gene in a segregation analysis of generalized radiographic osteoarthritis: the Framingham Study. Arthritis Rheum 1998, 41:1064-1071.
-
(1998)
Arthritis Rheum
, vol.41
, pp. 1064-1071
-
-
Felson, D.T.1
Couropmitree, N.N.2
Chaisson, C.E.3
Hannan, M.T.4
Zhang, Y.5
McAlindon, T.E.6
LaValley, M.7
Levy, D.8
Myers, R.H.9
-
6
-
-
0031810007
-
Familial aggregation of osteoarthritis: Data from the Baltimore Longitudinal Study on Aging
-
Hirsch R, Lethbridge-Cejku M, Hanson R, Scott WW Jr, Reichle R, Plato CC, Tobin JD, Hochberg MC: Familial aggregation of osteoarthritis: data from the Baltimore Longitudinal Study on Aging. Arthritis Rheum 1998, 41:1227-1232.
-
(1998)
Arthritis Rheum
, vol.41
, pp. 1227-1232
-
-
Hirsch, R.1
Lethbridge-Cejku, M.2
Hanson, R.3
Scott W.W., Jr.4
Reichle, R.5
Plato, C.C.6
Tobin, J.D.7
Hochberg, M.C.8
-
7
-
-
0029882325
-
Association of two loci on chromosome 2q with nodal osteoarthritis
-
Wright GD, Hughes AE, Regan M, Doherty M: Association of two loci on chromosome 2q with nodal osteoarthritis. Ann Rheum Dis 1996, 55:317-319.
-
(1996)
Ann. Rheum. Dis
, vol.55
, pp. 317-319
-
-
Wright, G.D.1
Hughes, A.E.2
Regan, M.3
Doherty, M.4
-
8
-
-
2142854406
-
Genome scan for predisposing loci for distal interphalangeal joint osteoarthritis: Evidence for a locus on 2q
-
Leppavuori J, Kujala U, Kinnunen J, Kaprio J, Nissila M, Heliovaara M, Klinger N, Partanen J, Terwilliger JD, Peltonen L: Genome scan for predisposing loci for distal interphalangeal joint osteoarthritis: evidence for a locus on 2q. Am J Hum Genet 1999, 65:1060-1067.
-
(1999)
Am. J. Hum. Genet
, vol.65
, pp. 1060-1067
-
-
Leppavuori, J.1
Kujala, U.2
Kinnunen, J.3
Kaprio, J.4
Nissila, M.5
Heliovaara, M.6
Klinger, N.7
Partanen, J.8
Terwilliger, J.D.9
Peltonen, L.10
-
9
-
-
0033365060
-
Stratification analysis of an osteoarthritis genome screen-suggestive linkage to chromosomes 4,6, and 16
-
Loughlin J, Mustafa Z, Irven C, Smith A, Carr AJ, Sykes B, Chapman K: Stratification analysis of an osteoarthritis genome screen-suggestive linkage to chromosomes 4,6, and 16. Am J Hum Genet 1999, 65:1795-1798.
-
(1999)
Am. J. Hum. Genet
, vol.65
, pp. 1795-1798
-
-
Loughlin, J.1
Mustafa, Z.2
Irven, C.3
Smith, A.4
Carr, A.J.5
Sykes, B.6
Chapman, K.7
-
10
-
-
0033358527
-
Osteoarthritis-susceptibility locus on chromosome 11q, detected by linkage
-
Chapman K, Mustafa Z, Irven C, Carr AJ, Clipsham K, Smith A, Chitnavis J, Sinsheimer JS, Bloomfield VA, McCartney M, Cox O, Cardon LR, Sykes B, Loughlin J: Osteoarthritis-susceptibility locus on chromosome 11q, detected by linkage. Am J Hum Genet 1999, 65:167-174.
-
(1999)
Am. J. Hum. Genet
, vol.65
, pp. 167-174
-
-
Chapman, K.1
Mustafa, Z.2
Irven, C.3
Carr, A.J.4
Clipsham, K.5
Smith, A.6
Chitnavis, J.7
Sinsheimer, J.S.8
Bloomfield, V.A.9
McCartney, M.10
Cox, O.11
Cardon, L.R.12
Sykes, B.13
Loughlin, J.14
-
11
-
-
0033361932
-
Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint maps to an 11-cM region on chromosome 4q35
-
Roby P, Eyre S, Worthington J, Ramesar R, Cilliers H, Beighton P, Grant M, Wallis G: Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint maps to an 11-cM region on chromosome 4q35. Am J Hum Genet 1999, 64:904-908.
-
(1999)
Am. J. Hum. Genet
, vol.64
, pp. 904-908
-
-
Roby, P.1
Eyre, S.2
Worthington, J.3
Ramesar, R.4
Cilliers, H.5
Beighton, P.6
Grant, M.7
Wallis, G.8
-
12
-
-
6744245573
-
Linkage analysis of candidate genes as susceptibility loci for osteoarthritis-suggestive linkage of C0L9A1 to female hip osteoarthritis
-
Mustafa Z, Chapman K, Irven C, Carr AJ, Clipsham K, Chitnavis J, Sinsheimer JS, Bloomfield VA, McCartney M, Cox O, Sykes B, Loughlin J: Linkage analysis of candidate genes as susceptibility loci for osteoarthritis-suggestive linkage of C0L9A1 to female hip osteoarthritis. Rheumatology (Oxford) 2000, 39: 299-306.
-
(2000)
Rheumatology (Oxford)
, vol.39
, pp. 299-306
-
-
Mustafa, Z.1
Chapman, K.2
Irven, C.3
Carr, A.J.4
Clipsham, K.5
Chitnavis, J.6
Sinsheimer, J.S.7
Bloomfield, V.A.8
McCartney, M.9
Cox, O.10
Sykes, B.11
Loughlin, J.12
-
13
-
-
6744229752
-
Linkage analysis of chromosome 2q in osteoarthritis
-
Loughlin J, Mustafa Z, Smith A, Irven C, Carr AJ, Clipsham K, Chitnavis J, Bloomfield VA, McCartney M, Cox O, Sinsheimer JS, Sykes B, Chapman KE: Linkage analysis of chromosome 2q in osteoarthritis. Rheumatology (Oxford) 2000, 39:377-381.
-
(2000)
Rheumatology (Oxford)
, vol.39
, pp. 377-381
-
-
Loughlin, J.1
Mustafa, Z.2
Smith, A.3
Irven, C.4
Carr, A.J.5
Clipsham, K.6
Chitnavis, J.7
Bloomfield, V.A.8
McCartney, M.9
Cox, O.10
Sinsheimer, J.S.11
Sykes, B.12
Chapman, K.E.13
-
14
-
-
0035156371
-
A large Icelandic family with early osteoarthritis of the hip associated with a susceptibility locus on chromosome 16p
-
Ingvarsson T, Stefansson SE, Gulcher JR, Jonsson HH, Jonsson H, Frigge ML, Palsdottir E, Olafsdottir G, Jonsdottir T, Walters GB, Lohmander LS, Stefansson K: A large Icelandic family with early osteoarthritis of the hip associated with a susceptibility locus on chromosome 16p. Arthritis Rheum 2001, 44:2548-2555.
-
(2001)
Arthritis Rheum
, vol.44
, pp. 2548-2555
-
-
Ingvarsson, T.1
Stefansson, S.E.2
Gulcher, J.R.3
Jonsson, H.H.4
Jonsson, H.5
Frigge, M.L.6
Palsdottir, E.7
Olafsdottir, G.8
Jonsdottir, T.9
Walters, G.B.10
Lohmander, L.S.11
Stefansson, K.12
-
15
-
-
0036222701
-
Genome scan for quantity of hand osteoarthritis: The Framingham Study
-
Demissie S, Cupples LA, Myers R, Aliabadi P, Levy D, Felson DT: Genome scan for quantity of hand osteoarthritis: the Framingham Study. Arthritis Rheum 2002, 46:946-52.
-
(2002)
Arthritis Rheum
, vol.46
, pp. 946-952
-
-
Demissie, S.1
Cupples, L.A.2
Myers, R.3
Aliabadi, P.4
Levy, D.5
Felson, D.T.6
-
16
-
-
0028952248
-
Differential allelic expression of the type II collagen gene (COL2A1) in osteoarthritic cartilage
-
Loughlin J, Irven C, Athanasou N, Carr A, Sykes B: Differential allelic expression of the type II collagen gene (COL2A1) in osteoarthritic cartilage. Am J Hum Genet 1995, 56:1186-1193.
-
(1995)
Am. J. Hum. Genet
, vol.56
, pp. 1186-1193
-
-
Loughlin, J.1
Irven, C.2
Athanasou, N.3
Carr, A.4
Sykes, B.5
-
17
-
-
0034099328
-
Association analysis of the vitamin D receptor gene, the type I collagen gene COL1A1, and the estrogen receptor gene in idiopathic osteoarthritis
-
Loughlin J, Sinsheimer JS, Mustafa Z, Carr AJ, Clipsham K, Bloomfield VA, Chitnavis J, Bailey A, Sykes B, Chapman K: Association analysis of the vitamin D receptor gene, the type I collagen gene COL1A1, and the estrogen receptor gene in idiopathic osteoarthritis. J Rheumatol 2000, 27:779-784.
-
(2000)
J. Rheumatol
, vol.27
, pp. 779-784
-
-
Loughlin, J.1
Sinsheimer, J.S.2
Mustafa, Z.3
Carr, A.J.4
Clipsham, K.5
Bloomfield, V.A.6
Chitnavis, J.7
Bailey, A.8
Sykes, B.9
Chapman, K.10
-
18
-
-
0031974972
-
Estrogen receptor gene polymorphism and generalized osteoarthritis
-
Ushiyama T, Ueyama H, Inoue K, Nishioka J, Ohkubo I, Hukuda S: Estrogen receptor gene polymorphism and generalized osteoarthritis. J Rheumatol 1998, 25:134-137.
-
(1998)
J. Rheumatol
, vol.25
, pp. 134-137
-
-
Ushiyama, T.1
Ueyama, H.2
Inoue, K.3
Nishioka, J.4
Ohkubo, I.5
Hukuda, S.6
-
19
-
-
0030742584
-
Vitamin D receptor genotype is associated with radiographic osteoarthritis at the knee
-
Uitterlinden AG, Burger H, Huang Q, Odding E, Duijn CM, Hofman A, Birkenhager JC, van Leeuwen JP, Pols HA: Vitamin D receptor genotype is associated with radiographic osteoarthritis at the knee. J Clin Invest 1997, 100:259-263.
-
(1997)
J. Clin. Invest
, vol.100
, pp. 259-263
-
-
Uitterlinden, A.G.1
Burger, H.2
Huang, Q.3
Odding, E.4
Duijn, C.M.5
Hofman, A.6
Birkenhager, J.C.7
van Leeuwen, J.P.8
Pols, H.A.9
-
20
-
-
0033939458
-
Adjacent genes, for C0L2A1 and the vitamin D receptor, are associated with separate features of radiographic osteoarthritis of the knee
-
Uitterlinden AG, Burger H, van Duijn CM, Huang O, Hofman A, Birkenhager JC, van Leeuwen JP, Pols HA: Adjacent genes, for C0L2A1 and the vitamin D receptor, are associated with separate features of radiographic osteoarthritis of the knee. Arthritis Rheum 2000, 43:1456-1464.
-
(2000)
Arthritis Rheum
, vol.43
, pp. 1456-1464
-
-
Uitterlinden, A.G.1
Burger, H.2
van Duijn, C.M.3
Huang, O.4
Hofman, A.5
Birkenhager, J.C.6
van Leeuwen, J.P.7
Pols, H.A.8
-
21
-
-
0030886744
-
Association of early osteoarthritis of the knee with a Taq I polymorphism of the vitamin D receptor gene
-
Keen RW, Hart DJ, Lanchbury JS, Spector TD: Association of early osteoarthritis of the knee with a Taq I polymorphism of the vitamin D receptor gene. Arthritis Rheum 1997, 40:1444-1449.
-
(1997)
Arthritis Rheum
, vol.40
, pp. 1444-1449
-
-
Keen, R.W.1
Hart, D.J.2
Lanchbury, J.S.3
Spector, T.D.4
-
22
-
-
0031850980
-
A genetic association study of the IGF-1 gene and radiological osteoarthritis in a population-based cohort study (the Rotterdam Study)
-
Meulenbelt I, Bijkerk C, Miedema HS, Breedveld FC, Hofman A, Valkenburg HA, Pols HA, Slagboom PE, van Duijn CM: A genetic association study of the IGF-1 gene and radiological osteoarthritis in a population-based cohort study (the Rotterdam Study). Ann Rheum Dis 1998, 57:371-374.
-
(1998)
Ann. Rheum. Dis
, vol.57
, pp. 371-374
-
-
Meulenbelt, I.1
Bijkerk, C.2
Miedema, H.S.3
Breedveld, F.C.4
Hofman, A.5
Valkenburg, H.A.6
Pols, H.A.7
Slagboom, P.E.8
van Duijn, C.M.9
-
23
-
-
0033502836
-
Haplotype analysis of three polymorphisms of the COL2A1 gene and associations with generalised radiological osteoarthritis
-
Meulenbelt I, Bijkerk C, De Wildt SC, Miedema HS, Breedveld FC, Pols HA, Hofman A, Van Duijn CM, Slagboom PE: Haplotype analysis of three polymorphisms of the COL2A1 gene and associations with generalised radiological osteoarthritis. Ann Hum Genet 1999, 63:393-400.
-
(1999)
Ann. Hum. Genet
, vol.63
, pp. 393-400
-
-
Meulenbelt, I.1
Bijkerk, C.2
De Wildt, S.C.3
Miedema, H.S.4
Breedveld, F.C.5
Pols, H.A.6
Hofman, A.7
Van Duijn, C.M.8
Slagboom, P.E.9
-
24
-
-
0034042680
-
Association of transforming growth factor beta1 genotype with spinal osteophytosis in Japanese women
-
Yamada Y, Okuizumi H, Miyauchi A, Takagi Y, Ikeda K, Harada A: Association of transforming growth factor beta1 genotype with spinal osteophytosis in Japanese women. Arthritis Rheum 2000, 43:452-460.
-
(2000)
Arthritis Rheum
, vol.43
, pp. 452-460
-
-
Yamada, Y.1
Okuizumi, H.2
Miyauchi, A.3
Takagi, Y.4
Ikeda, K.5
Harada, A.6
-
25
-
-
0032126314
-
An association between an aggrecan polymorphic allele and bilateral hand osteoarthritis in elderly white men: Data from the Baltimore Longitudinal Study of Aging (BLSA)
-
Horton WE Jr, Lethbridge-Cejku M, Hochberg MC, Balakir R, Precht P, Plato CC, Tobin JD, Meek L, Doege K: An association between an aggrecan polymorphic allele and bilateral hand osteoarthritis in elderly white men: data from the Baltimore Longitudinal Study of Aging (BLSA). Osteoarthritis Cartilage 1998, 6:245-251.
-
(1998)
Osteoarthritis Cartilage
, vol.6
, pp. 245-251
-
-
Horton W.E., Jr.1
Lethbridge-Cejku, M.2
Hochberg, M.C.3
Balakir, R.4
Precht, P.5
Plato, C.C.6
Tobin, J.D.7
Meek, L.8
Doege, K.9
-
26
-
-
0002962129
-
Hereditary osteoarthritis
-
Edited by Brandt KD, Doherty M, Lohmander LS. Oxford: Oxford University Press
-
Jimenez SA, Williams CJ, Karasick D: Hereditary osteoarthritis. In Osteoarthritis. Edited by Brandt KD, Doherty M, Lohmander LS. Oxford: Oxford University Press; 1998:31-49.
-
(1998)
Osteoarthritis
, pp. 31-49
-
-
Jimenez, S.A.1
Williams, C.J.2
Karasick, D.3
-
27
-
-
0001262010
-
Genetic and metabolic aspects
-
Edited by Reginster J-Y, Pelletier J-P, Martel-Pelletier J, Henrotin Y. Berlin, New York: Springer
-
Jimenez SA, Williams CJ: Genetic and metabolic aspects. In Osteoarthritis: Clinical and Experimental Aspects. Edited by Reginster J-Y, Pelletier J-P, Martel-Pelletier J, Henrotin Y. Berlin, New York: Springer; 1999:134-156.
-
(1999)
Osteoarthritis: Clinical and Experimental Aspects
, pp. 134-156
-
-
Jimenez, S.A.1
Williams, C.J.2
-
28
-
-
0001199647
-
Generalized osteoarthritis and Heberden's nodes
-
Kellgren JH, Moore R: Generalized osteoarthritis and Heberden's nodes. Brit Med J 1952, 1:181-187.
-
(1952)
Brit. Med. J
, vol.1
, pp. 181-187
-
-
Kellgren, J.H.1
Moore, R.2
-
30
-
-
0030955414
-
Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels
-
Kuivaniemi H, Tromp G, Prockop DJ: Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels. Hum Mutat 1997, 9:300-315.
-
(1997)
Hum. Mutat
, vol.9
, pp. 300-315
-
-
Kuivaniemi, H.1
Tromp, G.2
Prockop, D.J.3
-
31
-
-
0025009766
-
Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia
-
Ala-Kokko L, Baldwin CT, Moskowitz RW, Prockop DJ: Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia. Proc Natl Acad Sci USA 1990, 87:6565-6568.
-
(1990)
Proc. Natl. Acad. Sci. USA
, vol.87
, pp. 6565-6568
-
-
Ala-Kokko, L.1
Baldwin, C.T.2
Moskowitz, R.W.3
Prockop, D.J.4
-
32
-
-
0031596439
-
Five families with arginine 519-cysteine mutation in COL2A1: Evidence for three distinct founders
-
Bleasel JF, Holderbaum D, Brancolini V, Moskowitz RW, Considine EL, Prockop DJ, Devoto M, Williams CJ: Five families with arginine 519-cysteine mutation in COL2A1: evidence for three distinct founders. Hum Mutat 1998, 12:172-176.
-
(1998)
Hum. Mutat
, vol.12
, pp. 172-176
-
-
Bleasel, J.F.1
Holderbaum, D.2
Brancolini, V.3
Moskowitz, R.W.4
Considine, E.L.5
Prockop, D.J.6
Devoto, M.7
Williams, C.J.8
-
33
-
-
0027374553
-
Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75→Cys mutation in the procollagen type II gene (COL2A1)
-
Williams CJ, Considine EL, Knowlton RG, Reginato A, Neumann G, Harrison D, Buxton P, Jimenez S, Prockop DJ: Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75→Cys mutation in the procollagen type II gene (COL2A1). Hum Genet 1993, 92:499-505.
-
(1993)
Hum. Genet
, vol.92
, pp. 499-505
-
-
Williams, C.J.1
Considine, E.L.2
Knowlton, R.G.3
Reginato, A.4
Neumann, G.5
Harrison, D.6
Buxton, P.7
Jimenez, S.8
Prockop, D.J.9
-
34
-
-
0028952446
-
Type II procollagen gene (COL2A1) mutation in exon 11 associated with spondyloepiphyseal dysplasia, tall stature and precocious osteoarthritis
-
Bleasel JF, Bisagni-Faure A, Holderbaum D, Vacher-Lavenu MC, Haqqi TM, Moskowitz RW, Menkes CJ: Type II procollagen gene (COL2A1) mutation in exon 11 associated with spondyloepiphyseal dysplasia, tall stature and precocious osteoarthritis. J Rheumatol 1995, 22:255-261.
-
(1995)
J. Rheumatol
, vol.22
, pp. 255-261
-
-
Bleasel, J.F.1
Bisagni-Faure, A.2
Holderbaum, D.3
Vacher-Lavenu, M.C.4
Haqqi, T.M.5
Moskowitz, R.W.6
Menkes, C.J.7
-
35
-
-
0028270887
-
Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75→cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathologic findings
-
Reginato AJ, Passano GM, Neumann G, Falasca GF, Diaz-Valdez M, Jimenez SA, Williams CJ: Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75→cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathologic findings. Arthritis Rheum 1994, 37:1078-1086.
-
(1994)
Arthritis Rheum
, vol.37
, pp. 1078-1086
-
-
Reginato, A.J.1
Passano, G.M.2
Neumann, G.3
Falasca, G.F.4
Diaz-Valdez, M.5
Jimenez, S.A.6
Williams, C.J.7
-
36
-
-
0015424468
-
Morphological study of articular cartilage in pyrophosphate arthropathy. (Chondrocalcinosis articularis or calcium pyrophosphate dihydrate crystal deposition diseases)
-
Bjelle AO: Morphological study of articular cartilage in pyrophosphate arthropathy. (Chondrocalcinosis articularis or calcium pyrophosphate dihydrate crystal deposition diseases). Ann Rheum Dis 1972, 6:449-456.
-
(1972)
Ann. Rheum. Dis
, vol.6
, pp. 449-456
-
-
Bjelle, A.O.1
-
37
-
-
0019799518
-
Cartilage matrix in hereditary pyrophosphate arthropathy
-
Bjelle A: Cartilage matrix in hereditary pyrophosphate arthropathy. J Rheumatol 1981, 8:959-964.
-
(1981)
J. Rheumatol
, vol.8
, pp. 959-964
-
-
Bjelle, A.1
-
38
-
-
4243929773
-
A point mutation in one allele of the type II procollagengene produces a Gly976-Ser substitution of the gene in a family with severe degenerative arthropathy of the associated with probable epiphyseal dysplasia
-
Williams CJ, McCarron S, Considine E: A point mutation in one allele of the type II procollagengene produces a Gly976-Ser substitution of the gene in a family with severe degenerative arthropathy of the associated with probable epiphyseal dysplasia. Am J Hum Genet 1993, 53:A1252.
-
(1993)
Am. J. Hum. Genet
, vol.53
-
-
Williams, C.J.1
McCarron, S.2
Considine, E.3
-
39
-
-
0011612829
-
A type II collagen defect in a new family with SED tarda and early-onset osteoarthritis (OA)
-
[abstract]
-
Karzentein PL, Campbell DF, Machado MA, Horton WA, Lee B, Ramirez P: A type II collagen defect in a new family with SED tarda and early-onset osteoarthritis (OA) [abstract]. Arthritis Rheum 1992, 35:S41.
-
(1992)
Arthritis Rheum
, vol.35
-
-
Karzentein, P.L.1
Campbell, D.F.2
Machado, M.A.3
Horton, W.A.4
Lee, B.5
Ramirez, P.6
-
40
-
-
0030830696
-
Genetic linkage analysis of 14 candidate gene loci in a family with autosomal dominant osteoarthritis without dysplasia
-
Meulenbelt I, Bijkerk C, Breedveld FC, Slagboom PE: Genetic linkage analysis of 14 candidate gene loci in a family with autosomal dominant osteoarthritis without dysplasia. J Med Genet 1997, 34:1024-1027.
-
(1997)
J. Med. Genet
, vol.34
, pp. 1024-1027
-
-
Meulenbelt, I.1
Bijkerk, C.2
Breedveld, F.C.3
Slagboom, P.E.4
-
41
-
-
0029135314
-
Identification of COL2A1 gene mutations in patients with chondrodysplasias and familial osteoarthritis
-
Ritvaniemi P, Korkko J, Bonaventure J, Vikkula M, Hyland J, Paassilta P, Kaitila I, Kaariainen H, Sokolov BP, Hakala M, Pertti M, Meerson EM, Klemola T, Williams C, Peltonen L, Kivirikko KI, Prockop DJ, Ala-Kokko LA: Identification of COL2A1 gene mutations in patients with chondrodysplasias and familial osteoarthritis. Arthritis Rheum 1995, 38:999-1004.
-
(1995)
Arthritis Rheum
, vol.38
, pp. 999-1004
-
-
Ritvaniemi, P.1
Korkko, J.2
Bonaventure, J.3
Vikkula, M.4
Hyland, J.5
Paassilta, P.6
Kaitila, I.7
Kaariainen, H.8
Sokolov, B.P.9
Hakala, M.10
Pertti, M.11
Meerson, E.M.12
Klemola, T.13
Williams, C.14
Peltonen, L.15
Kivirikko, K.I.16
Prockop, D.J.17
Ala-Kokko, L.A.18
-
42
-
-
0027440045
-
Multiallelic polymorphism of the cartilage collagen gene: No association with osteoarthrosis
-
Vikkula M, Nissila M, Hirvensalo E, Nuotio P, Palotie A, Aho K, Peltonen L: Multiallelic polymorphism of the cartilage collagen gene: no association with osteoarthrosis. Ann Rheum Dis 1993, 52:762-764.
-
(1993)
Ann. Rheum. Dis
, vol.52
, pp. 762-764
-
-
Vikkula, M.1
Nissila, M.2
Hirvensalo, E.3
Nuotio, P.4
Palotie, A.5
Aho, K.6
Peltonen, L.7
-
43
-
-
0028606374
-
Sibling pair analysis shows no linkage of generalized osteoarthritis to the loci encoding type II collagen, cartilage link protein or cartilage matrix protein
-
Loughlin J, Irven C, Fergusson C, Sykes B: Sibling pair analysis shows no linkage of generalized osteoarthritis to the loci encoding type II collagen, cartilage link protein or cartilage matrix protein. Br J Rheumatol 1994, 33:1103-1106.
-
(1994)
Br. J. Rheumatol
, vol.33
, pp. 1103-1106
-
-
Loughlin, J.1
Irven, C.2
Fergusson, C.3
Sykes, B.4
-
44
-
-
0028938776
-
A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage
-
Chan D, Cole WG, Chow CW, Mundlos S, Bateman JF: A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage. J Biol Chem 1995, 270:1747-1753.
-
(1995)
J. Biol. Chem
, vol.270
, pp. 1747-1753
-
-
Chan, D.1
Cole, W.G.2
Chow, C.W.3
Mundlos, S.4
Bateman, J.F.5
-
45
-
-
0025743952
-
Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia
-
Chan D, Cole WG: Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia. J Biol Chem 1991, 266:12487-12494.
-
(1991)
J. Biol. Chem
, vol.266
, pp. 12487-12494
-
-
Chan, D.1
Cole, W.G.2
-
46
-
-
0027171315
-
Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia
-
Chan D, Taylor TK, Cole WG: Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia. J Biol Chem 1993, 268:15238-15245.
-
(1993)
J. Biol. Chem
, vol.268
, pp. 15238-15245
-
-
Chan, D.1
Taylor, T.K.2
Cole, W.G.3
-
47
-
-
0027471786
-
Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect
-
Winterpacht A, Hilbert M, Schwarze U, Mundlos S, Spranger J, Zabel BU: Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect. Nat Genet 1993, 3:323-326.
-
(1993)
Nat. Genet
, vol.3
, pp. 323-326
-
-
Winterpacht, A.1
Hilbert, M.2
Schwarze, U.3
Mundlos, S.4
Spranger, J.5
Zabel, B.U.6
-
48
-
-
0026000341
-
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)
-
Ahmad NN, Ala-Kokko L, Knowlton RG, Jimenez SA, Weaver EJ, Maguire JI, Tasman W, Prockop DJ: Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). Proc Natl Acad Sci USA 1991, 88:6624-6627.
-
(1991)
Proc. Natl. Acad. Sci. USA
, vol.88
, pp. 6624-6627
-
-
Ahmad, N.N.1
Ala-Kokko, L.2
Knowlton, R.G.3
Jimenez, S.A.4
Weaver, E.J.5
Maguire, J.I.6
Tasman, W.7
Prockop, D.J.8
-
49
-
-
0025871638
-
Expression of a partially deleted gene of human type II procollagen (COL2A1) in transgenic mice produces a chondrodysplasia
-
Vandenberg P, Khillan JS, Prockop DJ, Helminen H, Kontusaari S, Ala-Kokko L: Expression of a partially deleted gene of human type II procollagen (COL2A1) in transgenic mice produces a chondrodysplasia. Proc Natl Acad Sci USA 1991, 88:7640-7644.
-
(1991)
Proc. Natl. Acad. Sci. USA
, vol.88
, pp. 7640-7644
-
-
Vandenberg, P.1
Khillan, J.S.2
Prockop, D.J.3
Helminen, H.4
Kontusaari, S.5
Ala-Kokko, L.6
-
50
-
-
0027180015
-
An inbred line of transgenic mice expressing an internally deleted gene for type II procollagen (COL2A1). Young mice have a variable phenotype of a chondrodysplasia and older mice have osteoarthritic changes in joints
-
Helminen HJ, Kiraly K, Pelttari A, Tammi MI, Vandenberg P, Pereira R, Dhulipala R, Khillan JS, Ala-Kokko L, Hume EL, Sokolov BP, Prockop DJ: An inbred line of transgenic mice expressing an internally deleted gene for type II procollagen (COL2A1). Young mice have a variable phenotype of a chondrodysplasia and older mice have osteoarthritic changes in joints. J Clin Invest 1993, 92:582-595.
-
(1993)
J. Clin. Invest
, vol.92
, pp. 582-595
-
-
Helminen, H.J.1
Kiraly, K.2
Pelttari, A.3
Tammi, M.I.4
Vandenberg, P.5
Pereira, R.6
Dhulipala, R.7
Khillan, J.S.8
Ala-Kokko, L.9
Hume, E.L.10
Sokolov, B.P.11
Prockop, D.J.12
-
51
-
-
0027488640
-
Abnormal craniofacial morphology and cartilage structure in transgenic mice harboring a Gly →Cys mutation in the cartilage-specific type II collagen gene
-
Rintala M, Metsaranta M, Garofalo S, de Crombrugghe B, Vuorio E, Ronning O: Abnormal craniofacial morphology and cartilage structure in transgenic mice harboring a Gly →Cys mutation in the cartilage-specific type II collagen gene. J Craniofac Genet Dev Biol 1993, 13:137-146.
-
(1993)
J. Craniofac. Genet. Dev. Biol
, vol.13
, pp. 137-146
-
-
Rintala, M.1
Metsaranta, M.2
Garofalo, S.3
de Crombrugghe, B.4
Vuorio, E.5
Ronning, O.6
-
52
-
-
0031034806
-
Disproportionate micromelia (Dmm) in mice caused by a mutation in the C-propeptide coding region of Col2a1
-
Pace JM, Li Y, Seegmiller RE, Teuscher C, Taylor BA, Olsen BR: Disproportionate micromelia (Dmm) in mice caused by a mutation in the C-propeptide coding region of Col2a1. Dev Dyn 1997, 208:25-33.
-
(1997)
Dev. Dyn
, vol.208
, pp. 25-33
-
-
Pace, J.M.1
Li, Y.2
Seegmiller, R.E.3
Teuscher, C.4
Taylor, B.A.5
Olsen, B.R.6
-
53
-
-
0028136738
-
Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene
-
Briggs MD, Choi H, Warman ML, Loughlin JA, Wordsworth P, Sykes BC, Irven CM, Smith M, Wynne-Davies R, Lipson MH, Biesecker LG, Garber AP, Lachman R, Olsen BR, Rimoin DL, and Cohn DH: Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene. Am J Hum Genet 1994, 55:678-684.
-
(1994)
Am. J. Hum. Genet
, vol.55
, pp. 678-684
-
-
Briggs, M.D.1
Choi, H.2
Warman, M.L.3
Loughlin, J.A.4
Wordsworth, P.5
Sykes, B.C.6
Irven, C.M.7
Smith, M.8
Wynne-Davies, R.9
Lipson, M.H.10
Biesecker, L.G.11
Garber, A.P.12
Lachman, R.13
Olsen, B.R.14
Rimoin, D.L.15
Cohn, D.H.16
-
54
-
-
0030069658
-
A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)
-
Muragaki Y, Mariman EC, van Beersum SE, Perala M, van Mourik JB, Warman ML, Olsen BR, Hamel BC: A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2). Nat Genet 1996, 12:103-105.
-
(1996)
Nat. Genet
, vol.12
, pp. 103-105
-
-
Muragaki, Y.1
Mariman, E.C.2
van Beersum, S.E.3
Perala, M.4
van Mourik, J.B.5
Warman, M.L.6
Olsen, B.R.7
Hamel, B.C.8
-
55
-
-
0032543271
-
A large family with multiple epiphyseal dysplasia linked to COL9A2 gene
-
van Mourik JB, Hamel BC, Mariman EC: A large family with multiple epiphyseal dysplasia linked to COL9A2 gene. Am J Med Genet 1998, 77:234-240.
-
(1998)
Am. J. Med. Genet
, vol.77
, pp. 234-240
-
-
van Mourik, J.B.1
Hamel, B.C.2
Mariman, E.C.3
-
56
-
-
0033361919
-
COL9A3: A third locus for multiple epiphyseal dysplasia
-
Paassilta P, Lohiniva J, Annunen S, Bonaventure J, Le Merrer M, Pai L, Ala-Kokko L: COL9A3: A third locus for multiple epiphyseal dysplasia. Am J Hum Genet 1999, 64:1036-1044.
-
(1999)
Am. J. Hum. Genet
, vol.64
, pp. 1036-1044
-
-
Paassilta, P.1
Lohiniva, J.2
Annunen, S.3
Bonaventure, J.4
Le Merrer, M.5
Pai, L.6
Ala-Kokko, L.7
-
57
-
-
0034192867
-
Exon skipping mutation in the COL9A2 gene in a family with multiple epiphyseal dysplasia
-
Spayde EC, Joshi AP, Wilcox WR, Briggs M, Cohn DH, Olsen BR: Exon skipping mutation in the COL9A2 gene in a family with multiple epiphyseal dysplasia. Matrix Biol 2000, 19:121-128.
-
(2000)
Matrix Biol
, vol.19
, pp. 121-128
-
-
Spayde, E.C.1
Joshi, A.P.2
Wilcox, W.R.3
Briggs, M.4
Cohn, D.H.5
Olsen, B.R.6
-
58
-
-
0034736991
-
Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia
-
Lohiniva J, Paassilta P, Seppanen U, Vierimaa O, Kivirikko S, Ala-Kokko L: Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia. Am J Med Genet 2000, 90:216-222.
-
(2000)
Am. J. Med. Genet
, vol.90
, pp. 216-222
-
-
Lohiniva, J.1
Paassilta, P.2
Seppanen, U.3
Vierimaa, O.4
Kivirikko, S.5
Ala-Kokko, L.6
-
59
-
-
0034762339
-
A mutation in COL9A1 causes multiple epiphyseal dysplasia: Further evidence for locus heterogeneity
-
Czarny- Ratajczak M, Lohiniva J, Rogala P, Kozlowski K, Perala M, Carter L, Spector TD, Kolodziej L, Seppanen U, Glazar R, Krolewski J, Latos-Bielenska A, Ala-Kokko L: A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. Am J Hum Genet 2001, 69:969-980.
-
(2001)
Am. J. Hum. Genet
, vol.69
, pp. 969-980
-
-
Czarny-Ratajczak, M.1
Lohiniva, J.2
Rogala, P.3
Kozlowski, K.4
Perala, M.5
Carter, L.6
Spector, T.D.7
Kolodziej, L.8
Seppanen, U.9
Glazar, R.10
Krolewski, J.11
Latos-Bielenska, A.12
Ala-Kokko, L.13
-
60
-
-
0027509678
-
Osteoarthritis associated with mild chondrodysplasia in transgenic mice expressing alpha 1(IX) collagen chains with a central deletion
-
Nakata K, Ono K, Miyazaki J, Olsen BR, Muragaki Y, Adachi E, Yamamura K, Kimura T: Osteoarthritis associated with mild chondrodysplasia in transgenic mice expressing alpha 1(IX) collagen chains with a central deletion. Proc Natl Acad Sci USA 1993, 90:2870-2874.
-
(1993)
Proc. Natl. Acad. Sci. USA
, vol.90
, pp. 2870-2874
-
-
Nakata, K.1
Ono, K.2
Miyazaki, J.3
Olsen, B.R.4
Muragaki, Y.5
Adachi, E.6
Yamamura, K.7
Kimura, T.8
-
61
-
-
0028290671
-
Mice lacking alpha 1 (IX) collagen develop noninflammatory degenerative joint disease
-
Fassler R, Schnegelsberg PN, Dausman J, Shinya T, Muragaki Y, McCarthy MT, Olsen BR, Jaenisch R: Mice lacking alpha 1 (IX) collagen develop noninflammatory degenerative joint disease. Proc Natl Acad Sci USA 1994, 91:5070-5074.
-
(1994)
Proc. Natl. Acad. Sci. USA
, vol.91
, pp. 5070-5074
-
-
Fassler, R.1
Schnegelsberg, P.N.2
Dausman, J.3
Shinya, T.4
Muragaki, Y.5
McCarthy, M.T.6
Olsen, B.R.7
Jaenisch, R.8
-
62
-
-
0024526477
-
Cartilage contains mixed fibrils of collagen types II, IX, and XI
-
Mendler M, Eich-Bender SG, Vaughan L, Winterhalter KH, Bruckner P: Cartilage contains mixed fibrils of collagen types II, IX, and XI. J Cell Biol 1989, 108:191-197.
-
(1989)
J. Cell Biol
, vol.108
, pp. 191-197
-
-
Mendler, M.1
Eich-Bender, S.G.2
Vaughan, L.3
Winterhalter, K.H.4
Bruckner, P.5
-
63
-
-
0029833063
-
A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha-1(XI) collagen
-
Richards, AJ, Yates, JRW, Williams R, Payne SJ, Pope FM, Scott JD, Snead MP: A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha-1(XI) collagen. Hum Molec Genet 1996, 5:1339-1343.
-
(1996)
Hum. Molec. Genet
, vol.5
, pp. 1339-1343
-
-
Richards, A.J.1
Yates, J.R.W.2
Williams, R.3
Payne, S.J.4
Pope, F.M.5
Scott, J.D.6
Snead, M.P.7
-
64
-
-
0031949272
-
Marshall syndrome associated with a splicing defect at the COL11A1 gene
-
Griffith AJ, Sprunger LK, Sirko-Osadsa DA, Tiller GE, Meisler MH, Warman ML: Marshall syndrome associated with a splicing defect at the COL11A1 gene. Am J Hum Genet 1998, 62:816-823.
-
(1998)
Am. J. Hum. Genet
, vol.62
, pp. 816-823
-
-
Griffith, A.J.1
Sprunger, L.K.2
Sirko-Osadsa, D.A.3
Tiller, G.E.4
Meisler, M.H.5
Warman, M.L.6
-
65
-
-
0032744969
-
Stickler syndrome: Further mutations in COL11A1 and evidence for additional locus heterogeneity
-
Martin S, Richards AJ, Yates JRW, Scott JD, Pope M, Snead MP: Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity. Eur J Hum Genet 1999, 7:807-814.
-
(1999)
Eur. J. Hum. Genet
, vol.7
, pp. 807-814
-
-
Martin, S.1
Richards, A.J.2
Yates, J.R.W.3
Scott, J.D.4
Pope, M.5
Snead, M.P.6
-
66
-
-
0033365199
-
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes
-
Annunen S, Korkko J, Czarny M, Warman ML, Brunner HG, Kaariainen H, Mulliken JB, Tranebjaerg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SL, Friedrich CA, Kaitila I, Krawczynski MR, Latos-Bielenska A, Mukai S, Olsen BR, Shinno N, Somer M, Vikkula M, Zlotogora J, Prockop DJ, Ala-Kokko L: Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Am J Hum Genet 1999, 65:974-983.
-
(1999)
Am. J. Hum. Genet
, vol.65
, pp. 974-983
-
-
Annunen, S.1
Korkko, J.2
Czarny, M.3
Warman, M.L.4
Brunner, H.G.5
Kaariainen, H.6
Mulliken, J.B.7
Tranebjaerg, L.8
Brooks, D.G.9
Cox, G.F.10
Cruysberg, J.R.11
Curtis, M.A.12
Davenport, S.L.13
Friedrich, C.A.14
Kaitila, I.15
Krawczynski, M.R.16
Latos-Bielenska, A.17
Mukai, S.18
Olsen, B.R.19
Shinno, N.20
Somer, M.21
Vikkula, M.22
Zlotogora, J.23
Prockop, D.J.24
Ala-Kokko, L.25
more..
-
67
-
-
0028815298
-
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus
-
Vikkula M, Mariman EC, Lui VC, Zhidkova NI, Tiller GE, Goldring MB, van Beersum SE, de Waal Malefijt MC, van den Hoogen FH, Ropers H-H, Mayne R, Cheah K, Olsen BR, Warman ML, Brunner HG: Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell 1995, 80:431-437.
-
(1995)
Cell
, vol.80
, pp. 431-437
-
-
Vikkula, M.1
Mariman, E.C.2
Lui, V.C.3
Zhidkova, N.I.4
Tiller, G.E.5
Goldring, M.B.6
van Beersum, S.E.7
de Waal Malefijt, M.C.8
van den Hoogen, F.H.9
Ropers, H.-H.10
Mayne, R.11
Cheah, K.12
Olsen, B.R.13
Warman, M.L.14
Brunner, H.G.15
-
68
-
-
0030958929
-
Oto-spondylo-megaepiphyseal dysplasia (OSMED): Clinical description of three patients homozygous for a missense mutation in the COL11A2 gene
-
van Steensel MA, Buma P, de Waal Malefijt MC, van den Hoogen FH, Brunner HG: Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene. Am J Med Genet 1997, 70:315-323.
-
(1997)
Am. J. Med. Genet
, vol.70
, pp. 315-323
-
-
van Steensel, M.A.1
Buma, P.2
de Waal Malefijt, M.C.3
van den Hoogen, F.H.4
Brunner, H.G.5
-
69
-
-
0031733006
-
Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymuller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)
-
Pihlajamaa T, Prockop DJ, Faber J, Winterpacht A, Zabel B, Giedion A, Wiesbauer P, Spranger J, Ala-Kokko L: Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymuller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome). Am J Med Genet 1998, 80:115-120.
-
(1998)
Am. J. Med. Genet
, vol.80
, pp. 115-120
-
-
Pihlajamaa, T.1
Prockop, D.J.2
Faber, J.3
Winterpacht, A.4
Zabel, B.5
Giedion, A.6
Wiesbauer, P.7
Spranger, J.8
Ala-Kokko, L.9
-
70
-
-
0033912523
-
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of -function mutations in the COL11A2 gene
-
Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kaariainen H, Pauli RM, van Essen T, Warman ML, Bonaventure J, Miny P, Ala-Kokko L: Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of -function mutations in the COL11A2 gene. Am J Hum Genet 2000, 66:368-377.
-
(2000)
Am. J. Hum. Genet
, vol.66
, pp. 368-377
-
-
Melkoniemi, M.1
Brunner, H.G.2
Manouvrier, S.3
Hennekam, R.4
Superti-Furga, A.5
Kaariainen, H.6
Pauli, R.M.7
van Essen, T.8
Warman, M.L.9
Bonaventure, J.10
Miny, P.11
Ala-Kokko, L.12
-
71
-
-
0032755733
-
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)
-
McGuirt WT, Prasad SD, Griffith AJ, Kunst HP, Green GE, Shpargel KB, Runge C, Huybrechts C, Mueller RF, Lynch E, King MC, Brunner HG, Cremers CW, Takanosu M, Li SW, Arita M, Mayne R, Prockop DJ, Van Camp G, Smith RJ: Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nat Genet 1999, 23:413-419.
-
(1999)
Nat. Genet
, vol.23
, pp. 413-419
-
-
McGuirt, W.T.1
Prasad, S.D.2
Griffith, A.J.3
Kunst, H.P.4
Green, G.E.5
Shpargel, K.B.6
Runge, C.7
Huybrechts, C.8
Mueller, R.F.9
Lynch, E.10
King, M.C.11
Brunner, H.G.12
Cremers, C.W.13
Takanosu, M.14
Li, S.W.15
Arita, M.16
Mayne, R.17
Prockop, D.J.18
Van Camp, G.19
Smith, R.J.20
more..
-
72
-
-
0027255721
-
Isolation and characterization of the chains of type V/type XI collagen present in bovine vitreous
-
Mayne R, Brewton RG, Mayne PM, Baker JR: Isolation and characterization of the chains of type V/type XI collagen present in bovine vitreous. J Biol Chem 1993, 268:9381-9386.
-
(1993)
J. Biol. Chem
, vol.268
, pp. 9381-9386
-
-
Mayne, R.1
Brewton, R.G.2
Mayne, P.M.3
Baker, J.R.4
-
73
-
-
0028815297
-
A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis
-
Li Y, Lacerda DA, Warman ML, Beier DR, Yoshioka H, Ninomiya Y, Oxford JT, Morris NP, Andrikopoulos K, Ramirez F, Wardell BB, Lifferth GD, Teuscher C, Woodward SR, Taylor BA, Seegmiller RE, Olsen BR: A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis. Cell 1995, 80:423-430.
-
(1995)
Cell
, vol.80
, pp. 423-430
-
-
Li, Y.1
Lacerda, D.A.2
Warman, M.L.3
Beier, D.R.4
Yoshioka, H.5
Ninomiya, Y.6
Oxford, J.T.7
Morris, N.P.8
Andrikopoulos, K.9
Ramirez, F.10
Wardell, B.B.11
Lifferth, G.D.12
Teuscher, C.13
Woodward, S.R.14
Taylor, B.A.15
Seegmiller, R.E.16
Olsen, B.R.17
-
74
-
-
0034790996
-
Targeted disruption of Col11a2 produces a mild cartilage phenotype in transgenic mice: Comparison with the human disorder otospondylomegaepiphyseal dysplasia (OSMED)
-
Li SW, Takanosu M, Arita M, Bao Y, Ren ZX, Maier A, Prockop DJ, Mayne R: Targeted disruption of Col11a2 produces a mild cartilage phenotype in transgenic mice: Comparison with the human disorder otospondylomegaepiphyseal dysplasia (OSMED). Dev Dyn 2001, 222:141-152.
-
(2001)
Dev. Dyn
, vol.222
, pp. 141-152
-
-
Li, S.W.1
Takanosu, M.2
Arita, M.3
Bao, Y.4
Ren, Z.X.5
Maier, A.6
Prockop, D.J.7
Mayne, R.8
-
75
-
-
0032810551
-
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation
-
Superti-Furga A, Neumann L, Riebel T, Eich G, Steinmann B, Spranger J, Kunze J: Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. J Med Genet 1999, 36:621-624.
-
(1999)
J. Med. Genet
, vol.36
, pp. 621-624
-
-
Superti-Furga, A.1
Neumann, L.2
Riebel, T.3
Eich, G.4
Steinmann, B.5
Spranger, J.6
Kunze, J.7
-
76
-
-
0029070079
-
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene
-
Briggs MD, Hoffman SM, King LM, Olsen AS, Mohrenweiser H, Leroy JG, Mortier GR, Rimoin DL, Lachman RS, Gaines ES, Cekleniak JA, Knowlton, RG, Cohn DH: Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. Nat Genet 1995, 10:330-336.
-
(1995)
Nat. Genet
, vol.10
, pp. 330-336
-
-
Briggs, M.D.1
Hoffman, S.M.2
King, L.M.3
Olsen, A.S.4
Mohrenweiser, H.5
Leroy, J.G.6
Mortier, G.R.7
Rimoin, D.L.8
Lachman, R.S.9
Gaines, E.S.10
Cekleniak, J.A.11
Knowlton, R.G.12
Cohn, D.H.13
-
77
-
-
0033609802
-
Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia
-
Deere M, Sanford T, Francomano CA, Daniels K, Hecht JT: Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia. Am J Med Genet 1999, 85:486-490.
-
(1999)
Am. J. Med. Genet
, vol.85
, pp. 486-490
-
-
Deere, M.1
Sanford, T.2
Francomano, C.A.3
Daniels, K.4
Hecht, J.T.5
-
78
-
-
0035794206
-
Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX
-
Thur J, Rosenberg K, Nitsche DP, Pihlajamaa T, Ala-Kokko L, Heinegard D, Paulsson M, Maurer P: Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX. J Biol Chem 2001, 276:6083-6092.
-
(2001)
J. Biol. Chem
, vol.276
, pp. 6083-6092
-
-
Thur, J.1
Rosenberg, K.2
Nitsche, D.P.3
Pihlajamaa, T.4
Ala-Kokko, L.5
Heinegard, D.6
Paulsson, M.7
Maurer, P.8
-
79
-
-
0034933884
-
Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia
-
Chapman KL, Mortier GR, Chapman K, Loughlin J, Grant ME, Briggs MD: Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia. Nat Genet 2001, 28:393-396.
-
(2001)
Nat. Genet
, vol.28
, pp. 393-396
-
-
Chapman, K.L.1
Mortier, G.R.2
Chapman, K.3
Loughlin, J.4
Grant, M.E.5
Briggs, M.D.6
-
80
-
-
0035937135
-
Cartilage oligomeric matrix protein interacts with type IX collagen, and disruptions to these interactions identify a pathogenetic mechanism in a bone dysplasia family
-
Holden P, Meadows RS, Chapman KL, Grant ME, Kadler KE, Briggs MD: Cartilage oligomeric matrix protein interacts with type IX collagen, and disruptions to these interactions identify a pathogenetic mechanism in a bone dysplasia family. J Biol Chem 2001, 276:6046-6055.
-
(2001)
J. Biol. Chem
, vol.276
, pp. 6046-6055
-
-
Holden, P.1
Meadows, R.S.2
Chapman, K.L.3
Grant, M.E.4
Kadler, K.E.5
Briggs, M.D.6
-
81
-
-
0032699840
-
CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome
-
Marcelino J, Carpten JD, Suwairi WM, Gutierrez OM, Schwartz S, Robbins C, Sood R, Makalowska I, Baxevanis A, Johnstone B, Laxer RM, Zemel L, Kim CA, Herd JK, Ihle J, Williams C, Johnson M, Raman V, Alonso LG, Brunoni D, Gerstein A, Papadopoulos N, Bahabri SA, Trent JM, Warman ML: CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Nat Genet 1999, 23:319-322.
-
(1999)
Nat. Genet
, vol.23
, pp. 319-322
-
-
Marcelino, J.1
Carpten, J.D.2
Suwairi, W.M.3
Gutierrez, O.M.4
Schwartz, S.5
Robbins, C.6
Sood, R.7
Makalowska, I.8
Baxevanis, A.9
Johnstone, B.10
Laxer, R.M.11
Zemel, L.12
Kim, C.A.13
Herd, J.K.14
Ihle, J.15
Williams, C.16
Johnson, M.17
Raman, V.18
Alonso, L.G.19
Brunoni, D.20
Gerstein, A.21
Papadopoulos, N.22
Bahabri, S.A.23
Trent, J.M.24
Warman, M.L.25
more..
-
82
-
-
0033608160
-
Articular cartilage superficial zone protein (SZP) is homologous to megakaryocyte stimulating factor precursor and Is a multifunctional proteoglycan with potential growth-promoting, cytoprotective, and lubricating properties in cartilage metabolism
-
Flannery CR, Hughes CE, Schumacher BL, Tudor D, Aydelotte MB, Kuettner KE, Caterson B: Articular cartilage superficial zone protein (SZP) is homologous to megakaryocyte stimulating factor precursor and Is a multifunctional proteoglycan with potential growth-promoting, cytoprotective, and lubricating properties in cartilage metabolism. Biochem Biophys Res Commun 1999, 254:535-541.
-
(1999)
Biochem. Biophys. Res. Commun
, vol.254
, pp. 535-541
-
-
Flannery, C.R.1
Hughes, C.E.2
Schumacher, B.L.3
Tudor, D.4
Aydelotte, M.B.5
Kuettner, K.E.6
Caterson, B.7
-
83
-
-
0034647482
-
Role of the mouse ank gene in control of tissue calcification and arthritis
-
Ho AM, Johnson MD, Kingsley DM: Role of the mouse ank gene in control of tissue calcification and arthritis. Science 2000, 289:265-270.
-
(2000)
Science
, vol.289
, pp. 265-270
-
-
Ho, A.M.1
Johnson, M.D.2
Kingsley, D.M.3
-
84
-
-
0035041718
-
Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia
-
Nurnberg P, Thiele H, Chandler D, Hohne W, Cunningham ML, Ritter H, Leschilk G, Uhlmann K, Mischung C, Harrop K, Goldblatt J, Borochowitz ZU, Kotzot D, Westermann F, Mundlos S, Braun HS, Laing N, Tinschert S: Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. Nat Genet 2001, 28:37-41.
-
(2001)
Nat. Genet
, vol.28
, pp. 37-41
-
-
Nurnberg, P.1
Thiele, H.2
Chandler, D.3
Hohne, W.4
Cunningham, M.L.5
Ritter, H.6
Leschilk, G.7
Uhlmann, K.8
Mischung, C.9
Harrop, K.10
Goldblatt, J.11
Borochowitz, Z.U.12
Kotzot, D.13
Westermann, F.14
Mundlos, S.15
Braun, H.S.16
Laing, N.17
Tinschert, S.18
-
85
-
-
0034987026
-
Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK
-
Reichenberger E, Tiziani V, Watanabe S, Park L, Ueki Y, Santanna C, Baur ST, Shiang R, Grange DK, Beighton P, Gardner J, Hamersma H, Sellars S, Ramesar R, Lidral AC, Sommer A, Raposo do Amaral CM, Gorlin RJ, Mulliken JB, Olsen BR: Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. Am J Hum Genet 2001, 68:1321-1326.
-
(2001)
Am. J. Hum. Genet
, vol.68
, pp. 1321-1326
-
-
Reichenberger, E.1
Tiziani, V.2
Watanabe, S.3
Park, L.4
Ueki, Y.5
Santanna, C.6
Baur, S.T.7
Shiang, R.8
Grange, D.K.9
Beighton, P.10
Gardner, J.11
Hamersma, H.12
Sellars, S.13
Ramesar, R.14
Lidral, A.C.15
Sommer, A.16
Raposo do Amaral, C.M.17
Gorlin, R.J.18
Mulliken, J.B.19
Olsen, B.R.20
more..
-
86
-
-
0001014572
-
A heterozygous mutation in the human ANK gene in a British family with adult onset chondrocalcinosis due to calcium pyrophosphate crystal deposition
-
[abstract]
-
Pendleton A, Johnston M, Ho A, Gurley K, Kingsley D, Wright GD, Dixey J, Doherty M, Hughes AE: A heterozygous mutation in the human ANK gene in a British family with adult onset chondrocalcinosis due to calcium pyrophosphate crystal deposition [abstract]. Arthritis Rheum 2001, 44:S101.
-
(2001)
Arthritis Rheum
, vol.44
-
-
Pendleton, A.1
Johnston, M.2
Ho, A.3
Gurley, K.4
Kingsley, D.5
Wright, G.D.6
Dixey, J.7
Doherty, M.8
Hughes, A.E.9
-
87
-
-
0000949329
-
Analysis of ANK gene reveals heterozygous missense mutation in a French family with calcium pyrophosphate deposition disease (CPPDD)
-
Johnson M, Ho A, McGrath R, Netter P, Loeuille D, Jonveaux P, Gaucher A, Reginato A, Gurley K, Kingsley D, Williams CJ: Analysis of ANK gene reveals heterozygous missense mutation in a French family with calcium pyrophosphate deposition disease (CPPDD). Arthritis Rheum 2001, 9:S161.
-
(2001)
Arthritis Rheum
, vol.9
-
-
Johnson, M.1
Ho, A.2
McGrath, R.3
Netter, P.4
Loeuille, D.5
Jonveaux, P.6
Gaucher, A.7
Reginato, A.8
Gurley, K.9
Kingsley, D.10
Williams, C.J.11
-
88
-
-
0028920216
-
Linkage of early-onset osteoarthritis and chondrocalcinosis to human chromosome 8q
-
Baldwin CT, Farrer LA, Adair R, Dharmavaram R, Jimenez S, Anderson L: Linkage of early-onset osteoarthritis and chondrocalcinosis to human chromosome 8q. Am J Hum Genet 1995, 56:692-697.
-
(1995)
Am. J. Hum. Genet
, vol.56
, pp. 692-697
-
-
Baldwin, C.T.1
Farrer, L.A.2
Adair, R.3
Dharmavaram, R.4
Jimenez, S.5
Anderson, L.6
-
89
-
-
0034805917
-
Epidemiology of risk factors for osteoarthritis: Systemic factors
-
Sowers M: Epidemiology of risk factors for osteoarthritis: systemic factors. Curr Opin Rheumatol 2001, 13:447-451.
-
(2001)
Curr. Opin. Rheumatol
, vol.13
, pp. 447-451
-
-
Sowers, M.1
-
90
-
-
0034805856
-
Local factors in osteoarthritis
-
Sharma L: Local factors in osteoarthritis. Curr Opin Rheumatol 2001, 13:441-446.
-
(2001)
Curr. Opin. Rheumatol
, vol.13
, pp. 441-446
-
-
Sharma, L.1
-
91
-
-
0035076295
-
Articular cartilage and changes in arthritis. An introduction: Cell biology of osteoarthritis
-
Sandell LJ, Aigner T: Articular cartilage and changes in arthritis. An introduction: cell biology of osteoarthritis. Arthritis Res 2001, 3:107-113.
-
(2001)
Arthritis Res
, vol.3
, pp. 107-113
-
-
Sandell, L.J.1
Aigner, T.2
-
92
-
-
0030891729
-
Collagen II containing a Cys substitution for arg-alpha1-519. Homotrimeric monomers containing the mutation do not assemble into fibrils but alter the self-assembly of the normal protein
-
Fertala A, Ala-Kokko L, Wiaderkiewicz R, Prockop DJ: Collagen II containing a Cys substitution for arg-alpha1-519. Homotrimeric monomers containing the mutation do not assemble into fibrils but alter the self-assembly of the normal protein. J Biol Chem 1997, 272:6457-6464.
-
(1997)
J. Biol. Chem
, vol.272
, pp. 6457-6464
-
-
Fertala, A.1
Ala-Kokko, L.2
Wiaderkiewicz, R.3
Prockop, D.J.4
-
93
-
-
0035807851
-
Collagen II containing a Cys substitution for Arg-alpha1-519: Abnormal interactions of the mutated molecules with collagen IX
-
Fertala A, Sieron AL, Adachi E, Jimenez SA: Collagen II containing a Cys substitution for Arg-alpha1-519: abnormal interactions of the mutated molecules with collagen IX. Biochemistry 2001, 40:14422-14428.
-
(2001)
Biochemistry
, vol.40
, pp. 14422-14428
-
-
Fertala, A.1
Sieron, A.L.2
Adachi, E.3
Jimenez, S.A.4
-
94
-
-
0035937135
-
Cartilage oligomeric matrix protein interacts with type IX collagen, and disruptions to these interactions identify a pathogenetic mechanism in a bone dysplasia family
-
Holden P, Meadows RS, Chapman KL, Grant ME, Kadler KE, Briggs MD: Cartilage oligomeric matrix protein interacts with type IX collagen, and disruptions to these interactions identify a pathogenetic mechanism in a bone dysplasia family. J Biol Chem 2001, 276:6046-6055.
-
(2001)
J. Biol. Chem
, vol.276
, pp. 6046-6055
-
-
Holden, P.1
Meadows, R.S.2
Chapman, K.L.3
Grant, M.E.4
Kadler, K.E.5
Briggs, M.D.6
-
95
-
-
0034093353
-
Joint contact mechanics in the early stages of osteoarthritis
-
Wu JZ, Herzog W, Epstein M: Joint contact mechanics in the early stages of osteoarthritis. Med Eng Phys 2000, 22:1-12.
-
(2000)
Med. Eng. Phys
, vol.22
, pp. 1-12
-
-
Wu, J.Z.1
Herzog, W.2
Epstein, M.3
|