-
1
-
-
0036238236
-
Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: Mutation Review, Molecular Interactions and Genotype to Phenotype Correlations
-
doi:10.1002/humu.10066. PubMed: 11968079
-
Briggs MD, Chapman KL (2002) Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: Mutation Review, Molecular Interactions and Genotype to Phenotype Correlations. Hum Mutat 19: 465-478. doi:10.1002/humu.10066. PubMed: 11968079.
-
(2002)
Hum Mutat
, vol.19
, pp. 465-478
-
-
Briggs, M.D.1
Chapman, K.L.2
-
2
-
-
0036162729
-
Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments
-
doi:10.1002/ajmg.10234.abs. PubMed: 11891674
-
Unger S, Hecht JT (2001) Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments. Am J Med Genet 106: 244-250. doi:10.1002/ajmg.10234.abs. PubMed: 11891674.
-
(2001)
Am J Med Genet
, vol.106
, pp. 244-250
-
-
Unger, S.1
Hecht, J.T.2
-
3
-
-
0029070079
-
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in cartilage oligomeric matrix protein gene
-
doi:10.1038/ng0795-330. PubMed: 7670472
-
Briggs MD, Hoffman SM, King LM, Olsen AS, Mohrenweiser H et al. (1995) Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in cartilage oligomeric matrix protein gene. Nat Genet 10: 330-336. doi:10.1038/ng0795-330. PubMed: 7670472.
-
(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
-
4
-
-
0034933884
-
Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia
-
PubMed: 11479597
-
Chapman KL, Mortier GR, Chapman K, Loughlin J, Grant ME et al. (2001) Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia. Nat Genet 28: 493-496. PubMed: 11479597.
-
(2001)
Nat Genet
, vol.28
, pp. 493-496
-
-
Chapman, K.L.1
Mortier, G.R.2
Chapman, K.3
Loughlin, J.4
Grant, M.E.5
-
5
-
-
0034762339
-
A mutation in COL9A1 Causes Multiple Epiphyseal Dysplasia: Further Evidence for Locus Heterogeneity
-
doi:10.1086/324023. PubMed: 11565064
-
Czarny-Ratajczak M, Lohiniva J, Rogala P, Kozlowski K, Perälä M et al. (2001) A mutation in COL9A1 Causes Multiple Epiphyseal Dysplasia: Further Evidence for Locus Heterogeneity. Am J Hum Genet 69: 969-980. doi:10.1086/324023. PubMed: 11565064.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 969-980
-
-
Czarny-Ratajczak, M.1
Lohiniva, J.2
Rogala, P.3
Kozlowski, K.4
Perälä, M.5
-
6
-
-
0028136738
-
Genetic Mapping of a Locus for Multiple Epiphyseal Dysplasia (EDM2) to a Region of Chromosome I Containing a Type IX Collagen Gene
-
Briggs MD, Choi HC, Warman ML, Loughlin JA, Wordsworth P, et al. (1994) Genetic Mapping of a Locus for Multiple Epiphyseal Dysplasia (EDM2) to a Region of Chromosome I Containing a Type IX Collagen Gene. Am J Hum Genet 55: 001-005
-
(1994)
Am J Hum Genet
, vol.55
, pp. 001-005
-
-
Briggs, M.D.1
Choi, H.C.2
Warman, M.L.3
Loughlin, J.A.4
Wordsworth, P.5
-
7
-
-
34548056121
-
Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia - multiple epiphyseal dysplasia disease group
-
Kennedy J, Jackson GC, Barker FS, Nundlall S, Bella J et al. (2005) Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia - multiple epiphyseal dysplasia disease group. Hum Mutat 6: 593-594.
-
(2005)
Hum Mutat
, vol.6
, pp. 593-594
-
-
Kennedy, J.1
Jackson, G.C.2
Barker, F.S.3
Nundlall, S.4
Bella, J.5
-
8
-
-
77950446292
-
Type IX Collagen Gene Mutations can result in Multiple Epiphyseal Dysplasia that is associated with Osteochondritis Dissecans and a Mild Myopathy
-
doi:10.1002/ajmg.a.33240. PubMed: 20358595
-
Jackson GC, Marcus-Soekarman D, Stolte-Dijkstra I, Verrips A, Taylor JA et al. (2010) Type IX Collagen Gene Mutations can result in Multiple Epiphyseal Dysplasia that is associated with Osteochondritis Dissecans and a Mild Myopathy. Am J Med Genet A 152A: 863-869. doi:10.1002/ajmg.a.33240. PubMed: 20358595.
-
(2010)
Am J Med Genet A
, vol.152 A
, pp. 863-869
-
-
Jackson, G.C.1
Marcus-Soekarman, D.2
Stolte-Dijkstra, I.3
Verrips, A.4
Taylor, J.A.5
-
9
-
-
84857688692
-
Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution
-
doi:10.1002/humu.21611. PubMed: 21922596
-
Jackson GC, Mittaz-Crettol L, Taylor JA, Mortier GR, Spranger J et al. (2012) Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Hum Mutat 33: 144-157. doi:10.1002/humu.21611. PubMed: 21922596.
-
(2012)
Hum Mutat
, vol.33
, pp. 144-157
-
-
Jackson, G.C.1
Mittaz-Crettol, L.2
Taylor, J.A.3
Mortier, G.R.4
Spranger, J.5
-
10
-
-
0031693482
-
Characterization of cartilage oligomeric matrix protein (COMP) in human normal and pseudoachondroplasia musculoskeletal tissues
-
doi:10.1016/S0945-053X(98)90080-4. PubMed: 9749943
-
Hecht JT, Deere M, Putnam E, Cole W, Vertel B et al. (1998) Characterization of cartilage oligomeric matrix protein (COMP) in human normal and pseudoachondroplasia musculoskeletal tissues. Matrix Biol 17: 269-278. doi:10.1016/S0945-053X(98)90080-4. PubMed: 9749943.
-
(1998)
Matrix Biol
, vol.17
, pp. 269-278
-
-
Hecht, J.T.1
Deere, M.2
Putnam, E.3
Cole, W.4
Vertel, B.5
-
11
-
-
22544435541
-
Ultrastructural immunolocalization of cartilage oligomeric matrix protein (COMP) in relation to collagen fibrils in the equine tendon
-
doi:10.1016/j.matbio.2005.06.003. PubMed: 16005620
-
Södersten F, Ekman S, Eloranta ML, Heinegård D, Dudhia J et al. (2005) Ultrastructural immunolocalization of cartilage oligomeric matrix protein (COMP) in relation to collagen fibrils in the equine tendon. Matrix Biol 24: 376-385. doi:10.1016/j.matbio.2005.06.003. PubMed: 16005620.
-
(2005)
Matrix Biol
, vol.24
, pp. 376-385
-
-
Södersten, F.1
Ekman, S.2
Eloranta, M.L.3
Heinegård, D.4
Dudhia, J.5
-
12
-
-
0036702249
-
Matrix-matrix interactions of cartilage oligomeric matrrix protein and fibronectin
-
doi:10.1016/S0945-053X(02)00015-X. PubMed: 12225811
-
Di Cesare PE, Chen FS, Moergelin M, Carlson CS, Leslie MO et al. (2002) Matrix-matrix interactions of cartilage oligomeric matrrix protein and fibronectin. Matrix Biology 21: 461-470. doi:10.1016/S0945-053X(02)00015-X. PubMed: 12225811.
-
(2002)
Matrix Biology
, vol.21
, pp. 461-470
-
-
Di Cesare, P.E.1
Chen, F.S.2
Moergelin, M.3
Carlson, C.S.4
Leslie, M.O.5
-
13
-
-
34548317505
-
Interaction of cartilage oligomeric matrix protein/thrombospondin 5 with aggrecan
-
doi:10.1074/jbc.M611390200. PubMed: 17588949
-
Chen FH, Herndon ME, Patel N, Hecht JT, Tuan RS et al. (2007) Interaction of cartilage oligomeric matrix protein/thrombospondin 5 with aggrecan. J Biol Chem 282: 24591-24598. doi:10.1074/jbc.M611390200. PubMed: 17588949.
-
(2007)
J Biol Chem
, vol.282
, pp. 24591-24598
-
-
Chen, F.H.1
Herndon, M.E.2
Patel, N.3
Hecht, J.T.4
Tuan, R.S.5
-
14
-
-
2942597560
-
Interactions between the cartilage oligomeric matrix protein and matrilins. Implications for matrix assembly and the pathogenesis of chondrodysplasias
-
doi:10.1074/jbc.M403778200. PubMed: 15075323
-
Mann HH, Ozbek S, Engel J, Paulsson M, Wagener R (2004) Interactions between the cartilage oligomeric matrix protein and matrilins. Implications for matrix assembly and the pathogenesis of chondrodysplasias. J Biol Chem 279: 25294-25298. doi:10.1074/jbc.M403778200. PubMed: 15075323.
-
(2004)
J Biol Chem
, vol.279
, pp. 25294-25298
-
-
Mann, H.H.1
Ozbek, S.2
Engel, J.3
Paulsson, M.4
Wagener, R.5
-
15
-
-
0035937135
-
Cartilage oligomeric matrix protein interacts with type IX collagen, and disruptions to these interactions identify a pathogenetic mechanism in a bone dysplasia family
-
doi:10.1074/jbc.M009507200. PubMed: 11087755
-
Holden P, Meadows RS, Chapman KL, Grant ME, Kadler KE et al. (2001) 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 276: 6046-6055. doi:10.1074/jbc.M009507200. PubMed: 11087755.
-
(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
-
16
-
-
35748950738
-
COMP acts as a catalyst in collagen fibrillogenesis
-
doi:10.1074/jbc.M705735200. PubMed: 17716974
-
Halász K, Kassner A, Mörgelin M, Heinegård D (2007) COMP acts as a catalyst in collagen fibrillogenesis. J Biol Chem 282: 31166-31173. doi:10.1074/jbc.M705735200. PubMed: 17716974.
-
(2007)
J Biol Chem
, vol.282
, pp. 31166-31173
-
-
Halász, K.1
Kassner, A.2
Mörgelin, M.3
Heinegård, D.4
-
17
-
-
25444531239
-
Cartilage oligomeric matrix protein/thrombonspondin-5 supports chondrocyte attachment through interaction with integrins
-
doi:10.1074/jbc.M504778200. PubMed: 16051604
-
Chen FH, Thomas AO, Hecht JT (2005) Cartilage oligomeric matrix protein/thrombonspondin-5 supports chondrocyte attachment through interaction with integrins. J Biol Chem 280: 32655-32661. doi:10.1074/jbc.M504778200. PubMed: 16051604.
-
(2005)
J Biol Chem
, vol.280
, pp. 32655-32661
-
-
Chen, F.H.1
Thomas, A.O.2
Hecht, J.T.3
-
18
-
-
77951296975
-
Cartilage oligomeric matrix protein promotes cell attachment via two independent mechanisms involving CD47 and alphaVbeta3 integrin
-
doi:10.1007/s11010-009-0355-3. PubMed: 20033473
-
Rock MJ, Holden P, Horton WA, Cohn DH (2010) Cartilage oligomeric matrix protein promotes cell attachment via two independent mechanisms involving CD47 and alphaVbeta3 integrin. Mol Cell Biochem 338: 215-224. doi:10.1007/s11010-009- 0355-3. PubMed: 20033473.
-
(2010)
Mol Cell Biochem
, vol.338
, pp. 215-224
-
-
Rock, M.J.1
Holden, P.2
Horton, W.A.3
Cohn, D.H.4
-
19
-
-
17344374325
-
Diverse mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia-Multiple Epiphyseal Dysplasia Disease
-
doi:10.1086/301713
-
Briggs MD, Mortier GR, Cole WG, King LM, Golik SS et al. (1998) Diverse mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia-Multiple Epiphyseal Dysplasia Disease. Spectrum - American Journal of Human Genetics 62: 311-319. doi:10.1086/301713.
-
(1998)
Spectrum - American Journal of Human Genetics
, vol.62
, pp. 311-319
-
-
Briggs, M.D.1
Mortier, G.R.2
Cole, W.G.3
King, L.M.4
Golik, S.S.5
-
20
-
-
0030699168
-
The Fate of Cartilage Oligomeric Matrix Protein Is Determined by the Cell Type in the Case of a Novel Mutation in Pseudoachondroplasia
-
doi:10.1074/jbc.272.49.30993. PubMed: 9388247
-
Maddox BK, Keene DR, Sakai LY, Charbonneau NL, Morris NP et al. (1997) The Fate of Cartilage Oligomeric Matrix Protein Is Determined by the Cell Type in the Case of a Novel Mutation in Pseudoachondroplasia. J Biol Chem 272: 30993-30997. doi:10.1074/jbc.272.49.30993. PubMed: 9388247.
-
(1997)
J Biol Chem
, vol.272
, pp. 30993-30997
-
-
Maddox, B.K.1
Keene, D.R.2
Sakai, L.Y.3
Charbonneau, N.L.4
Morris, N.P.5
-
21
-
-
0037969934
-
Mutation (D472Y) in the Type 3 Repeat Domain of Cartilage Oligomeric Matrix Protein Affects Its Early Vesicle Trafficking in Endoplasmatic Reticulum and Induces
-
doi:10.1016/S0002-9440(10)63634-6
-
Hashimoto Y, Tomiyama T, Yamano Y, Mori H (2003) Mutation (D472Y) in the Type 3 Repeat Domain of Cartilage Oligomeric Matrix Protein Affects Its Early Vesicle Trafficking in Endoplasmatic Reticulum and Induces. Apoptosis - American Journal of Pathology 163: 101-109. doi:10.1016/S0002-9440(10)63634-6.
-
(2003)
Apoptosis - American Journal of Pathology
, vol.163
, pp. 101-109
-
-
Hashimoto, Y.1
Tomiyama, T.2
Yamano, Y.3
Mori, H.4
-
22
-
-
84857686755
-
A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia
-
PubMed: 22006726
-
Suleman F, Gualeni B, Gregson HJ, Leighton MP, Piróg KA et al. (2012) A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia. Hum Mutat 33: 218-231. PubMed: 22006726.
-
(2012)
Hum Mutat
, vol.33
, pp. 218-231
-
-
Suleman, F.1
Gualeni, B.2
Gregson, H.J.3
Leighton, M.P.4
Piróg, K.A.5
-
23
-
-
0942290435
-
Characterization of a pseudoachondroplasia-associated mutation (His 587-Arg) in the C-terminal, collagen-binding domain of cartilage oligomeric matrix protein (COMP)
-
doi:10.1042/BJ20031179
-
Spitznagel L, Nitsche DP, Paulsson M, Maurer P, Zaucke F (2004) Characterization of a pseudoachondroplasia-associated mutation (His 587-Arg) in the C-terminal, collagen-binding domain of cartilage oligomeric matrix protein (COMP). Journal of Biochemistry 377: 479-487. doi:10.1042/BJ20031179.
-
(2004)
Journal of Biochemistry
, vol.377
, pp. 479-487
-
-
Spitznagel, L.1
Nitsche, D.P.2
Paulsson, M.3
Maurer, P.4
Zaucke, F.5
-
24
-
-
34548453097
-
Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP
-
doi:10.1093/hmg/ddm155. PubMed: 17588960
-
Piróg-Garcia KA, Meadows RS, Knowles L, Heinegård D, Thornton DJ et al. (2007) Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP. Hum Mol Genet 16: 2072-2088. doi:10.1093/hmg/ddm155. PubMed: 17588960.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 2072-2088
-
-
Piróg-Garcia, K.A.1
Meadows, R.S.2
Knowles, L.3
Heinegård, D.4
Thornton, D.J.5
-
25
-
-
77649322497
-
A mouse model offers novel insight into the myopathy and tendinopathy that is often associated with pseudoachondroplasia and multiple epiphyseal dysplasia
-
doi:10.1093/hmg/ddp466. PubMed: 19808781
-
Piróg KA, Jaka O, Katakura Y, Meadows RS, Kadler KE et al. (2010) A mouse model offers novel insight into the myopathy and tendinopathy that is often associated with pseudoachondroplasia and multiple epiphyseal dysplasia. Hum Mol Genet 19: 52-64. doi:10.1093/hmg/ddp466. PubMed: 19808781.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 52-64
-
-
Piróg, K.A.1
Jaka, O.2
Katakura, Y.3
Meadows, R.S.4
Kadler, K.E.5
-
26
-
-
77953523649
-
Skeletal dysplasias associated with mild myopathy - A clinical and molecular review
-
epub May 24
-
Piróg K, Briggs M (2010) Skeletal dysplasias associated with mild myopathy - a clinical and molecular review. J Biomed Biotechnol epub May 24.
-
(2010)
J Biomed Biotechnol
-
-
Piróg, K.1
Briggs, M.2
-
27
-
-
0242605083
-
A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy
-
doi:10.1073/pnas.97.3.1212. PubMed: 10655510
-
Bönnemann CG, Cox GF, Shapiro F, Wu JJ, Feener CA et al. (2000) A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy. Proc of the Natl Acad of Sciences of the USA 97: 1212-1217. doi:10.1073/pnas.97.3.1212. PubMed: 10655510.
-
(2000)
Proc of the Natl Acad of Sciences of the USA
, vol.97
, pp. 1212-1217
-
-
Bönnemann, C.G.1
Cox, G.F.2
Shapiro, F.3
Wu, J.J.4
Feener, C.A.5
-
28
-
-
0032213779
-
Characterization of Human Matrilin-3 (MATN3)
-
doi:10.1006/geno.1998.5519. PubMed: 9799608
-
Belluoccio D, Schenker T, Baici A, Trueb B (1998) Characterization of Human Matrilin-3 (MATN3). Genomics 53: 391-394. doi:10.1006/geno.1998.5519. PubMed: 9799608.
-
(1998)
Genomics
, vol.53
, pp. 391-394
-
-
Belluoccio, D.1
Schenker, T.2
Baici, A.3
Trueb, B.4
-
30
-
-
20444376187
-
The matrilins - adaptor proteins in the extracellular matrix
-
doi:10.1016/j.febslet.2005.03.018. PubMed: 15943978
-
Wagener R, Ehlen HWA, Ko YP, Kobbe B, Mann HH et al. (2005) The matrilins - adaptor proteins in the extracellular matrix. FEBS Lett 579: 3323-3329. doi:10.1016/j.febslet.2005.03.018. PubMed: 15943978.
-
(2005)
FEBS Lett
, vol.579
, pp. 3323-3329
-
-
Wagener, R.1
Ehlen, H.W.A.2
Ko, Y.P.3
Kobbe, B.4
Mann, H.H.5
-
31
-
-
36849090781
-
Structural and functional characterization of recombinant matrilin-3 A-domain and implications for human genetic bone diseases
-
doi:10.1074/jbc.M705301200. PubMed: 17881354
-
Fresquet M, Jowitt TA, Ylöstalo J, Coffey P, Meadows RS et al. (2007) Structural and functional characterization of recombinant matrilin-3 A-domain and implications for human genetic bone diseases. J Biol Chem 282: 34634-34643. doi:10.1074/jbc.M705301200. PubMed: 17881354.
-
(2007)
J Biol Chem
, vol.282
, pp. 34634-34643
-
-
Fresquet, M.1
Jowitt, T.A.2
Ylöstalo, J.3
Coffey, P.4
Meadows, R.S.5
-
32
-
-
9144234060
-
Missense mutations in the b strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia
-
doi:10.1136/jmg.2003.015222. PubMed: 14729835
-
Jackson GC, Barker FS, Jakkula E, Czarny-Ratajczak M, Mäkitie O et al. (2004) Missense mutations in the b strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. J Med Genet 41: 52-59. doi:10.1136/jmg.2003.015222. PubMed: 14729835.
-
(2004)
J Med Genet
, vol.41
, pp. 52-59
-
-
Jackson, G.C.1
Barker, F.S.2
Jakkula, E.3
Czarny-Ratajczak, M.4
Mäkitie, O.5
-
33
-
-
28844457260
-
Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3
-
doi:10.1002/humu.20263. PubMed: 16287128
-
Cotterill SL, Jackson GC, Leighton MP, Wagener R, Mäkitie O et al. (2005) Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3. Hum Mutat 26: 557-567. doi:10.1002/humu.20263. PubMed: 16287128.
-
(2005)
Hum Mutat
, vol.26
, pp. 557-567
-
-
Cotterill, S.L.1
Jackson, G.C.2
Leighton, M.P.3
Wagener, R.4
Mäkitie, O.5
-
34
-
-
34547789362
-
Decreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation
-
doi:10.1093/hmg/ddm121. PubMed: 17517694
-
Leighton MP, Nundlall S, Starborg T, Meadows RS, Suleman F et al. (2007) Decreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation. Hum Mol Genet 16: 1728-1741. doi:10.1093/hmg/ddm121. PubMed: 17517694.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 1728-1741
-
-
Leighton, M.P.1
Nundlall, S.2
Starborg, T.3
Meadows, R.S.4
Suleman, F.5
-
35
-
-
0028115692
-
Congenital myopathies
-
doi:10.1002/mus.880170202. PubMed: 81147813065597
-
Bodensteiner JB (1994) Congenital myopathies. Muscle and Nerve 17: 131-144. doi:10.1002/mus.880170202. PubMed: 81147813065597.
-
(1994)
Muscle and Nerve
, vol.17
, pp. 131-144
-
-
Bodensteiner, J.B.1
-
37
-
-
28044444896
-
From mechanostat theory to development of the "Functional Muscle-Bone-Unit"
-
PubMed: 16172514
-
Schoenau E (2005) From mechanostat theory to development of the "Functional Muscle-Bone-Unit". J Musculoskelet Neuronal Interact 5: 232-238. PubMed: 16172514.
-
(2005)
J Musculoskelet Neuronal Interact
, vol.5
, pp. 232-238
-
-
Schoenau, E.1
-
38
-
-
28044466929
-
Bone growth in length and width: The Yin and Yang of bone stability
-
PubMed: 16172510
-
Rauch F (2005) Bone growth in length and width: the Yin and Yang of bone stability. J Musculoskelet Neuronal Interact 5: 194-201. PubMed: 16172510.
-
(2005)
J Musculoskelet Neuronal Interact
, vol.5
, pp. 194-201
-
-
Rauch, F.1
-
39
-
-
84866365146
-
Biomodal collagen fibril diameter distributions direct age-related variations in tendon resilience and resistance to rupture
-
doi:10.1152/japplphysiol.00258.2012. PubMed: 22837169
-
Goh KL, Holmes DF, Lu Y, Purslow PP, Kadler KE et al. (2012) Biomodal collagen fibril diameter distributions direct age-related variations in tendon resilience and resistance to rupture. Journal of Appl Physiol 113: 878-888. doi:10.1152/japplphysiol.00258.2012. PubMed: 22837169.
-
(2012)
Journal of Appl Physiol
, vol.113
, pp. 878-888
-
-
Goh, K.L.1
Holmes, D.F.2
Lu, Y.3
Purslow, P.P.4
Kadler, K.E.5
-
40
-
-
0035819553
-
In vivo behaviour of human muscle tendon during walking
-
doi:10.1098/rspb.2000.1361. PubMed: 11217891
-
Fukunaga T, Kubo K, Kawakami Y, Fukashiro S, Kanehisa H et al. (2001) In vivo behaviour of human muscle tendon during walking. Proc Biol Sci 268: 229-233. doi:10.1098/rspb.2000.1361. PubMed: 11217891.
-
(2001)
Proc Biol Sci
, vol.268
, pp. 229-233
-
-
Fukunaga, T.1
Kubo, K.2
Kawakami, Y.3
Fukashiro, S.4
Kanehisa, H.5
-
41
-
-
33947290057
-
Mechanics of tendon, from an engineering perspective
-
doi:10.1016/j.ijfatigue.2006.09.020
-
Ker R (2007) Mechanics of tendon, from an engineering perspective. International Journal of Fatigue 29: 1001-1009. doi:10.1016/j.ijfatigue.2006.09. 020.
-
(2007)
International Journal of Fatigue
, vol.29
, pp. 1001-1009
-
-
Ker, R.1
-
42
-
-
0034266101
-
Achondroplasia and nail-patella syndrome: The compound phenotype
-
doi:10.1136/jmg.37.9.e25. PubMed: 10978372
-
Wright MJ, Ain MC, Clough MV, Bellus GA, Hurko O et al. (2000) Achondroplasia and nail-patella syndrome: the compound phenotype. J Med Genet 37: E25. doi:10.1136/jmg.37.9.e25. PubMed: 10978372.
-
(2000)
J Med Genet
, vol.37
-
-
Wright, M.J.1
Ain, M.C.2
Clough, M.V.3
Bellus, G.A.4
Hurko, O.5
-
44
-
-
9144252010
-
A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: Clinical and pathogenetic overlap with collagen IX mutations
-
doi:10.1136/jmg.40.12.942. PubMed: 14684695
-
Jakkula E, Lohiniva J, Capone A, Bonafe L, Marti M et al. (2003) A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations. J Med Genet 40: 942-948. doi:10.1136/jmg.40.12.942. PubMed: 14684695.
-
(2003)
J Med Genet
, vol.40
, pp. 942-948
-
-
Jakkula, E.1
Lohiniva, J.2
Capone, A.3
Bonafe, L.4
Marti, M.5
-
46
-
-
0030900365
-
Immunolocalisation of type IX collagen in normal and spontaneously osteoarthritic canine tibial cartilage and isolated chondrons
-
doi:10.1016/S1063-4584(97)80014-3. PubMed: 9219682
-
Poole CA, Gilbert RT, Herbage D, Hartmann DJ (1997) Immunolocalisation of type IX collagen in normal and spontaneously osteoarthritic canine tibial cartilage and isolated chondrons. Osteoarthritis and Cartilage 5: 191-204. doi:10.1016/S1063-4584(97)80014-3. PubMed: 9219682.
-
(1997)
Osteoarthritis and Cartilage
, vol.5
, pp. 191-204
-
-
Poole, C.A.1
Gilbert, R.T.2
Herbage, D.3
Hartmann, D.J.4
-
47
-
-
42649136225
-
An immunohistochemical study of the extracellular matrix of entheses associated with the human pisiform bone
-
doi:10.1111/j.1469-7580.2008.00887.x. PubMed: 18399959
-
Adamczyk C, Milz S, Tischer T, Putz R, Benjamin M (2008) An immunohistochemical study of the extracellular matrix of entheses associated with the human pisiform bone. J Anat 212: 645-653. doi:10.1111/j.1469-7580.2008. 00887.x. PubMed: 18399959.
-
(2008)
J Anat
, vol.212
, pp. 645-653
-
-
Adamczyk, C.1
Milz, S.2
Tischer, T.3
Putz, R.4
Benjamin, M.5
-
48
-
-
76249090489
-
BioGPS: An extensible and customizable portal for querying and organizing gene annotation resources
-
doi:10.1186/gb-2009-10-11-r130. PubMed: 19919682
-
Wu C, Orozco C, Boyer J, Leglise M, Goodale J et al. (2009) BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources. Genome Biol 10: R130. doi:10.1186/gb-2009-10-11-r130. PubMed: 19919682.
-
(2009)
Genome Biol
, vol.10
-
-
Wu, C.1
Orozco, C.2
Boyer, J.3
Leglise, M.4
Goodale, J.5
-
49
-
-
0034635355
-
Molecular structure and tissue distribution of matrilin-3, a filament forming extracellular matrix protein expressed during skeletal development
-
doi:10.1074/jbc.275.6.3999. PubMed: 10660556
-
Klatt AR, Nitsche DP, Kobbe B, Mörgelin M, Paulsson M et al. (2000) Molecular structure and tissue distribution of matrilin-3, a filament forming extracellular matrix protein expressed during skeletal development. J Biol Chem 275: 3999-4006. doi:10.1074/jbc.275.6.3999. PubMed: 10660556.
-
(2000)
J Biol Chem
, vol.275
, pp. 3999-4006
-
-
Klatt, A.R.1
Nitsche, D.P.2
Kobbe, B.3
Mörgelin, M.4
Paulsson, M.5
-
50
-
-
0033742836
-
Expression of matrilin-1, -2 and -3 in developing mouse limbs and heart
-
doi:10.1016/S0945-053X(00)00112-8. PubMed: 11102754
-
Segat D, Frie C, Nitsche PD, Klatt AR, Piecha D et al. (2000) Expression of matrilin-1, -2 and -3 in developing mouse limbs and heart. Matrix Biology 19: 649-655. doi:10.1016/S0945-053X(00)00112-8. PubMed: 11102754.
-
(2000)
Matrix Biology
, vol.19
, pp. 649-655
-
-
Segat, D.1
Frie, C.2
Nitsche, P.D.3
Klatt, A.R.4
Piecha, D.5
-
52
-
-
1642313674
-
Role of extracellular matrix in adaptation of tendon and skeletal muscle to mechanical loading
-
doi:10.1152/physrev.00031.2003. PubMed: 15044685
-
Kjaer M (2004) Role of extracellular matrix in adaptation of tendon and skeletal muscle to mechanical loading. Physiol Rev 84: 649-698. doi:10.1152/physrev.00031.2003. PubMed: 15044685.
-
(2004)
Physiol Rev
, vol.84
, pp. 649-698
-
-
Kjaer, M.1
-
53
-
-
38949151591
-
Transgenic mice expressing D469Δ mutated cartilage oligomeric matrix protein (COMP) show growth plate abnormalities and sternal malformations
-
Schmitz M, Niehoff A, miosge N, Smyth N, Paulsson M, et al. (2008) Transgenic mice expressing D469Δ mutated cartilage oligomeric matrix protein (COMP) show growth plate abnormalities and sternal malformations Matrix Biology 27: 77-85.
-
(2008)
Matrix Biology
, vol.27
, pp. 77-85
-
-
Schmitz, M.1
Niehoff, A.2
Miosge, N.3
Smyth, N.4
Paulsson, M.5
-
54
-
-
0042221271
-
Tendons in health and disease
-
doi:10.1054/math.1996.0267. PubMed: 11440506
-
Benjamin M, Ralphs JR (1996) Tendons in health and disease. Man Ther 1: 186-191. doi:10.1054/math.1996.0267. PubMed: 11440506.
-
(1996)
Man Ther
, vol.1
, pp. 186-191
-
-
Benjamin, M.1
Ralphs, J.R.2
-
55
-
-
0034767471
-
Microstructural morphology in the transition region between scar and intact residual segments of a healing rat medial collateral ligament
-
doi:10.3109/03008200109014254. PubMed: 11718467
-
Provenzano PP, Hurschler C, Vanderby R (2001) Microstructural morphology in the transition region between scar and intact residual segments of a healing rat medial collateral ligament. Connect Tissue Res 42: 123-133. doi:10.3109/03008200109014254. PubMed: 11718467.
-
(2001)
Connect Tissue Res
, vol.42
, pp. 123-133
-
-
Provenzano, P.P.1
Hurschler, C.2
Vanderby, R.3
-
56
-
-
0037219859
-
Review: Clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia
-
doi:10.1080/pdp.22.1.53.75. PubMed: 12687890
-
Chapman KL, Briggs MD (2003) Review: Clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia. Pediatr Pathol Mol Med 22: 53-75. doi:10.1080/pdp.22.1.53.75. PubMed: 12687890.
-
(2003)
Pediatr Pathol Mol Med
, vol.22
, pp. 53-75
-
-
Chapman, K.L.1
Briggs, M.D.2
-
57
-
-
0026318162
-
Force transmission across muscle cell membranes
-
doi:10.1016/0021-9290(91)90376-X. PubMed: 1791181
-
Tidball JG (1991) Force transmission across muscle cell membranes. J Biomech 24: 43-52. doi:10.1016/0021-9290(91)90376-X. PubMed: 1791181.
-
(1991)
J Biomech
, vol.24
, pp. 43-52
-
-
Tidball, J.G.1
-
58
-
-
0019428777
-
Role of fascia in maintenance of muscle tension and pressure
-
PubMed: 7263438
-
Garfin SR, Tipton CM, Mubarak SJ, Woo SL, Hargens AR et al. (1981) Role of fascia in maintenance of muscle tension and pressure. J Appl Physiol Respir Environ Exerc Physiol 51: 317-320. PubMed: 7263438.
-
(1981)
J Appl Physiol Respir Environ Exerc Physiol
, vol.51
, pp. 317-320
-
-
Garfin, S.R.1
Tipton, C.M.2
Mubarak, S.J.3
Woo, S.L.4
Hargens, A.R.5
-
59
-
-
0036728312
-
Correlation of cartilage oligomeric matrix protein (COMP) levels in equine tendon with mechanical properties: A proposed role for COMP in determining function-specific mechanical characteristics of locomotor tendons
-
PubMed: 12405694
-
Smith RK, Gerard M, Dowling B, Dart AJ, Birch HL et al. (2002) Correlation of cartilage oligomeric matrix protein (COMP) levels in equine tendon with mechanical properties: a proposed role for COMP in determining function-specific mechanical characteristics of locomotor tendons. Equine Vet J Suppl 34: 241-244. PubMed: 12405694.
-
(2002)
Equine Vet J Suppl
, vol.34
, pp. 241-244
-
-
Smith, R.K.1
Gerard, M.2
Dowling, B.3
Dart, A.J.4
Birch, H.L.5
-
60
-
-
33845916205
-
Disruption of extracellular matrix structure may cause pseudoachondroplasia phenotypes in the absence of impaired cartilage oligomeric matrix protein secretion
-
doi:10.1074/jbc.M601976200. PubMed: 16928687
-
Schmitz M, Becker A, Schmitz A, Weirich C, Paulsson M et al. (2006) Disruption of extracellular matrix structure may cause pseudoachondroplasia phenotypes in the absence of impaired cartilage oligomeric matrix protein secretion J Biol Chem 281: 32587-32595. doi:10.1074/jbc.M601976200. PubMed: 16928687.
-
(2006)
J Biol Chem
, vol.281
, pp. 32587-32595
-
-
Schmitz, M.1
Becker, A.2
Schmitz, A.3
Weirich, C.4
Paulsson, M.5
-
61
-
-
34447626457
-
Aging enhances a mechanically-induced reduction in tendon strength by an active process involving matrix metalloproteinase activity
-
doi:10.1111/j.1474-9726.2007.00307.x. PubMed: 17578513
-
Dudhia J, Scott CM, Draper ER, Heinegård D, Pitsillides AA et al. (2007) Aging enhances a mechanically-induced reduction in tendon strength by an active process involving matrix metalloproteinase activity. Aging Cell 6: 547-556. doi:10.1111/j.1474-9726.2007.00307.x. PubMed: 17578513.
-
(2007)
Aging Cell
, vol.6
, pp. 547-556
-
-
Dudhia, J.1
Scott, C.M.2
Draper, E.R.3
Heinegård, D.4
Pitsillides, A.A.5
-
62
-
-
51749100044
-
Ten years muscle-bone hypothesis: What have we learned so far? - Almost a festschrift
-
PubMed: 18622086
-
Rittweger J (2008) Ten years muscle-bone hypothesis: what have we learned so far? - almost a festschrift - . J Musculoskelet Neuronal Interact 8: 174-178. PubMed: 18622086.
-
(2008)
J Musculoskelet Neuronal Interact
, vol.8
, pp. 174-178
-
-
Rittweger, J.1
-
63
-
-
33847220680
-
The 'Functional Muscle-Bone Unit': Probing the relevance of mechanical signals for bone development in children and adolescents
-
doi:10.1016/j.ghir.2006.10.004. PubMed: 17194607
-
Fricke O, Schoenau E (2007) The 'Functional Muscle-Bone Unit': probing the relevance of mechanical signals for bone development in children and adolescents. Growth Horm IGF Res 17: 1-9. doi:10.1016/j.ghir.2006.10.004. PubMed: 17194607.
-
(2007)
Growth Horm IGF Res
, vol.17
, pp. 1-9
-
-
Fricke, O.1
Schoenau, E.2
-
64
-
-
79959425166
-
Development of the musculoskeletal system: Meeting the neighbors
-
doi:10.1242/dev.067181. PubMed: 21693508
-
Kardon G (2011) Development of the musculoskeletal system: meeting the neighbors. Development 138: 2855-2859. doi:10.1242/dev.067181. PubMed: 21693508.
-
(2011)
Development
, vol.138
, pp. 2855-2859
-
-
Kardon, G.1
-
65
-
-
77952520173
-
Force Transmission between Synergistic Skeletal Muscles through Connective Tissue Linkages
-
Epub 2010 April 12. PubMed: 20396618
-
Maas H, Sandercock TG (2010) Force Transmission between Synergistic Skeletal Muscles through Connective Tissue Linkages. J Biomed Biotechnol Epub 2010 April 12. PubMed: 20396618.
-
(2010)
J Biomed Biotechnol
-
-
Maas, H.1
Sandercock, T.G.2
|