-
1
-
-
84874041956
-
The genetics and functional analysis of primary osteoarthritis susceptibility
-
Reynard, L. N. & Loughlin, J. The genetics and functional analysis of primary osteoarthritis susceptibility. Expert Rev. Mol. Med. 15, e2 (2013).
-
(2013)
Expert Rev. Mol. Med.
, vol.15
-
-
Reynard, L.N.1
Loughlin, J.2
-
2
-
-
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
-
Jackson, G. C. et al. 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 (2012).
-
(2012)
Hum. Mutat.
, vol.33
, pp. 144-157
-
-
Jackson, G.C.1
-
3
-
-
84865595151
-
Identification of new susceptibility loci for osteoarthritis (arcOGEN): A genome-wide association study
-
arcOGEN Consortium and arcOGEN Collaborators
-
arcOGEN Consortium and arcOGEN Collaborators. Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study. Lancet 380, 815-823 (2012).
-
(2012)
Lancet
, vol.380
, pp. 815-823
-
-
-
4
-
-
70350666382
-
Aberrations of 6q13 mapped to the COL12A1 locus in chondromyxoid fibroma
-
Yasuda, T. et al. Aberrations of 6q13 mapped to the COL12A1 locus in chondromyxoid fibroma. Mod. Pathol. 22, 1499-1506 (2009).
-
(2009)
Mod. Pathol.
, vol.22
, pp. 1499-1506
-
-
Yasuda, T.1
-
5
-
-
79953309875
-
Insights into the genetic architecture of osteoarthritis from stage 1 of the arcOGEN study
-
Panoutsopoulou K. et al. Insights into the genetic architecture of osteoarthritis from stage 1 of the arcOGEN study. Ann. Rheum. Dis. 70, 864-867 (2011).
-
(2011)
Ann. Rheum. Dis.
, vol.70
, pp. 864-867
-
-
Panoutsopoulou, K.1
-
6
-
-
61449172037
-
Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
-
Huang, D. W., Sherman, B. T. & Lempicki, R. A. Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat. Protoc. 4, 44-57 (2009).
-
(2009)
Nat. Protoc.
, vol.4
, pp. 44-57
-
-
Huang, D.W.1
Sherman, B.T.2
Lempicki, R.A.3
-
8
-
-
83455244821
-
The skeleton: A multi-functional complex organ: The growth plate chondrocyte and endochondral ossification
-
Mackie, E. J., Tatarczuch, L. & Mirams, M. The skeleton: a multi-functional complex organ: the growth plate chondrocyte and endochondral ossification. J. Endocrinol. 211, 109-121 (2011).
-
(2011)
J. Endocrinol.
, vol.211
, pp. 109-121
-
-
MacKie, E.J.1
Tatarczuch, L.2
Mirams, M.3
-
9
-
-
79952637781
-
Hypertrophic differentiation of chondrocytes in osteoarthritis: The developmental aspect of degenerative joint disorders
-
Dreier, R. Hypertrophic differentiation of chondrocytes in osteoarthritis: the developmental aspect of degenerative joint disorders. Arthritis Res. Ther. 12, 216 (2010).
-
(2010)
Arthritis Res. Ther.
, vol.12
, pp. 216
-
-
Dreier, R.1
-
10
-
-
75749110202
-
A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22
-
Kerkhof, H. J. et al. A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22. Arthritis Rheum. 62, 499-510 (2010).
-
(2010)
Arthritis Rheum.
, vol.62
, pp. 499-510
-
-
Kerkhof, H.J.1
-
11
-
-
80052736294
-
A variant in MCF2L is associated with osteoarthritis
-
Day-Williams, A. G. et al. A variant in MCF2L is associated with osteoarthritis. Am. J. Hum. Genet. 89, 446-450 (2011).
-
(2011)
Am. J. Hum. Genet.
, vol.89
, pp. 446-450
-
-
Day-Williams, A.G.1
-
12
-
-
43049122786
-
A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 5′ UTR of GDF5 with osteoarthritis susceptibility
-
DOI 10.1093/hmg/ddn038
-
Chapman, K. et al. A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 5'UTR of GDF5 with osteoarthritis susceptibility. Hum. Mol. Genet. 17, 1497-1504 (2008). (Pubitemid 351627345)
-
(2008)
Human Molecular Genetics
, vol.17
, Issue.10
, pp. 1497-1504
-
-
Chapman, K.1
Takahashi, A.2
Meulenbelt, I.3
Watson, C.4
Rodriguez-Lopez, J.5
Egli, R.6
Tsezou, A.7
Malizos, K.N.8
Kloppenburg, M.9
Shi, D.10
Southam, L.11
Van Der Breggen, R.12
Donn, R.13
Qin, J.14
Doherty, M.15
Slagboom, P.E.16
Wallis, G.17
Kamatani, N.18
Jiang, Q.19
Gonzalez, A.20
Loughlin, J.21
Ikegawa, S.22
more..
-
13
-
-
60249098721
-
Differential transcriptome analysis of intraarticular lesional vs intact cartilage reveals new candidate genes on osteoarthritis pathophysiology
-
Geyer, M. et al. Differential transcriptome analysis of intraarticular lesional vs intact cartilage reveals new candidate genes on osteoarthritis pathophysiology. Osteoarthritis Cartilage 17, 328-335 (2009).
-
(2009)
Osteoarthritis Cartilage
, vol.17
, pp. 328-335
-
-
Geyer, M.1
-
14
-
-
77950021301
-
Genome-wide expression profiling reveals new candidate genes associated with osteoarthritis
-
Karlsson, C. et al. Genome-wide expression profiling reveals new candidate genes associated with osteoarthritis. Osteoarthritis Cartilage 18, 581-592 (2010).
-
(2010)
Osteoarthritis Cartilage
, vol.18
, pp. 581-592
-
-
Karlsson, C.1
-
15
-
-
84864383496
-
Identification of the pathogenic pathways in osteoarthritic hip cartilage: Commonality and discord between hip and knee OA
-
Xu, Y. et al. Identification of the pathogenic pathways in osteoarthritic hip cartilage: commonality and discord between hip and knee OA. Osteoarthritis Cartilage 20, 1029-1038 (2012).
-
(2012)
Osteoarthritis Cartilage
, vol.20
, pp. 1029-1038
-
-
Xu, Y.1
-
16
-
-
84869003760
-
Gremlin 1, frizzled-related protein, and Dkk-1 are key regulators of human articular cartilage homeostasis
-
Leijten, J. C. et al. Gremlin 1, frizzled-related protein, and Dkk-1 are key regulators of human articular cartilage homeostasis. Arthritis Rheum. 64, 3302-3312 (2012).
-
(2012)
Arthritis Rheum.
, vol.64
, pp. 3302-3312
-
-
Leijten, J.C.1
-
17
-
-
13444256205
-
Molecular mechanisms of endochondral bone development
-
DOI 10.1016/j.bbrc.2004.11.068, Vertebrate Skeletal Biology
-
Provot, S. & Schipani, E. Molecular mechanisms of endochondral bone development. Biochem. Biophys. Res. Commun. 328, 658-665 (2005). (Pubitemid 40208303)
-
(2005)
Biochemical and Biophysical Research Communications
, vol.328
, Issue.3
, pp. 658-665
-
-
Provot, S.1
Schipani, E.2
-
18
-
-
26244431932
-
Maintenance of chondroitin sulfation balance by chondroitin-4- sulfotransferase 1 is required for chondrocyte development and growth factor signaling during cartilage morphogenesis
-
DOI 10.1242/dev.01948
-
Klüppel, M. et al. Maintenance of chondroitin sulfation balance by chondroitin-4-sulfotransferase 1 is required for chondrocyte development and growth factor signaling during cartilage morphogenesis. Development 132, 3989-4003 (2005). (Pubitemid 41410261)
-
(2005)
Development
, vol.132
, Issue.17
, pp. 3989-4003
-
-
Kluppel, M.1
Wight, T.N.2
Chan, C.3
Hinek, A.4
Wrana, J.L.5
-
19
-
-
33645082395
-
PTH/PTHrP receptor delays chondrocyte hypertrophy via both Runx2-dependent and-independent pathways
-
Guo, J. et al. PTH/PTHrP receptor delays chondrocyte hypertrophy via both Runx2-dependent and-independent pathways. Dev. Biol. 292, 116-128 (2006).
-
(2006)
Dev. Biol.
, vol.292
, pp. 116-128
-
-
Guo, J.1
-
20
-
-
33746938803
-
Contribution of runt-related transcription factor 2 to the pathogenesis of osteoarthritis in mice after induction of knee joint instability
-
DOI 10.1002/art.22041
-
Kamekura, S. et al. Contribution of runt-related transcription factor 2 to the pathogenesis of osteoarthritis in mice after induction of knee joint instability. Arthritis Rheum. 54, 2462-2470 (2006). (Pubitemid 44205006)
-
(2006)
Arthritis and Rheumatism
, vol.54
, Issue.8
, pp. 2462-2470
-
-
Kamekura, S.1
Kawasaki, Y.2
Hoshi, K.3
Shimoaka, T.4
Chikuda, H.5
Maruyama, Z.6
Komori, T.7
Sato, S.8
Takeda, S.9
Karsenty, G.10
Nakamura, K.11
Chung, U.-I.12
Kawaguchi, H.13
-
21
-
-
84856971211
-
C/EBP and RUNX2 cooperate to degrade cartilage with MMP-13 as the target and HIF-2 as the inducer in chondrocytes
-
Hirata, M. et al. C/EBP and RUNX2 cooperate to degrade cartilage with MMP-13 as the target and HIF-2 as the inducer in chondrocytes. Hum. Mol. Genet. 21, 1111-1123 (2012).
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 1111-1123
-
-
Hirata, M.1
-
22
-
-
72449129934
-
Regulation of bone development and extracellular matrix protein genes by RUNX2
-
Komori, T. Regulation of bone development and extracellular matrix protein genes by RUNX2. Cell Tissue Res. 339, 189-195 (2010).
-
(2010)
Cell Tissue Res.
, vol.339
, pp. 189-195
-
-
Komori, T.1
-
23
-
-
0035795405
-
Skeletal malformations caused by overexpression of Cbfa1 or its dominant negative form in chondrocytes
-
Ueta, C. et al. Skeletal malformations caused by overexpression of Cbfa1 or its dominant negative form in chondrocytes. J. Cell Biol. 153, 87-100 (2001).
-
(2001)
J. Cell Biol.
, vol.153
, pp. 87-100
-
-
Ueta, C.1
-
24
-
-
0034708608
-
Cbfa1 is a positive regulatory factor in chondrocyte maturation
-
DOI 10.1074/jbc.275.12.8695
-
Enomoto, H. et al. Cbfa1 is a positive regulatory factor in chondrocyte maturation. J. Biol. Chem. 275, 8695-8702 (2000). (Pubitemid 30180221)
-
(2000)
Journal of Biological Chemistry
, vol.275
, Issue.12
, pp. 8695-8702
-
-
Enomoto, H.1
Enomoto-Iwamoto, M.2
Iwamoto, M.3
Nomura, S.4
Himeno, M.5
Kitamura, Y.6
Kishimoto, T.7
Komori, T.8
-
25
-
-
3142707223
-
Runx2 induces osteoblast and chondrocyte differentiation and enhances their migration by coupling with PI3K-Akt signaling
-
DOI 10.1083/jcb.200401138
-
Fujita, T. et al. Runx2 induces osteoblast and chondrocyte differentiation and enhances their migration by coupling with PI3K-Akt signaling. J. Cell Biol. 166, 85-95 (2004). (Pubitemid 38931919)
-
(2004)
Journal of Cell Biology
, vol.166
, Issue.1
, pp. 85-95
-
-
Fujita, T.1
Azuma, Y.2
Fukuyama, R.3
Hattori, Y.4
Yoshida, C.5
Koida, M.6
Ogita, K.7
Komori, T.8
-
26
-
-
0033014044
-
Regulation of chondrocyte differentiation by Cbfa1
-
DOI 10.1016/S0925-4773(98)00210-X, PII S092547739800210X
-
Kim, I. S. et al. Regulation of chondrocyte differentiation by Cbfa1. Mech. Dev. 80, 159-170 (1999). (Pubitemid 29125427)
-
(1999)
Mechanisms of Development
, vol.80
, Issue.2
, pp. 159-170
-
-
Kim, I.S.1
Otto, F.2
Zabel, B.3
Mundlos, S.4
-
27
-
-
0032949156
-
Maturational disturbance of chondrocytes in Cbfa1-deficient mice
-
DOI 10.1002/(SICI)1097-0177(199904)214:4<279::AID-AJA1>3.0.CO;2-W
-
Inada, M. et al. Maturational disturbance of chondrocytes in Cbfa1-deficient mice. Dev. Dyn. 214, 279-290 (1999). (Pubitemid 29160205)
-
(1999)
Developmental Dynamics
, vol.214
, Issue.4
, pp. 279-290
-
-
Inada, M.1
Yasui, T.2
Nomura, S.3
Miyake, S.4
Deguchi, K.5
Himeno, M.6
Sato, M.7
Yamagiwa, H.8
Kimura, T.9
Yasui, N.10
Ochi, T.11
Endo, N.12
Kitamura, Y.13
Kishimoto, T.14
Komori, T.15
-
28
-
-
10344245561
-
Critical roles for collagenase-3 (Mmp13) in development of growth plate cartilage and in endochondral ossification
-
DOI 10.1073/pnas.0407788101
-
Inada, M. et al. Critical roles for collagenase-3 (Mmp13) in development of growth plate cartilage and in endochondral ossification. Proc. Natl Acad. Sci. USA 101, 17192-17197 (2004). (Pubitemid 39627796)
-
(2004)
Proceedings of the National Academy of Sciences of the United States of America
, vol.101
, Issue.49
, pp. 17192-17197
-
-
Inada, M.1
Wang, Y.2
Byrne, M.H.3
Rahman, M.U.4
Miyaura, C.5
Lopez-Otin, C.6
Krane, S.M.7
-
29
-
-
0030024311
-
Degradation of cartilage aggrecan by collagenase-3 (MMP-13)
-
DOI 10.1016/0014-5793(95)01539-6
-
Fosang, A. J. et al. Degradation of cartilage aggrecan by collagenase-3 (MMP-13). FEBS. Lett. 380, 17-20 (1996). (Pubitemid 26058726)
-
(1996)
FEBS Letters
, vol.380
, Issue.1-2
, pp. 17-20
-
-
Fosang, A.J.1
Last, K.2
Knauper, V.3
Murphy, G.4
Neame, P.J.5
-
30
-
-
84855825971
-
Molecular differentiation between osteophytic and articular cartilage-clues for a transient and permanent chondrocyte phenotype
-
Gelse, K. et al. Molecular differentiation between osteophytic and articular cartilage-clues for a transient and permanent chondrocyte phenotype. Osteoarthritis Cartilage 20, 162-171 (2012).
-
(2012)
Osteoarthritis Cartilage
, vol.20
, pp. 162-171
-
-
Gelse, K.1
-
31
-
-
0029750190
-
Regulation of rate of cartilage differentiation by Indian Hedgehog and PTH-related protein
-
Vortkamp, A. et al. Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein. Science 273, 613-622 (1996). (Pubitemid 26262108)
-
(1996)
Science
, vol.273
, Issue.5275
, pp. 613-622
-
-
Vortkamp, A.1
Lee, K.2
Lanske, B.3
Segre, G.V.4
Kronenberg, H.M.5
Tabin, C.J.6
-
32
-
-
0036023342
-
TGFβ2 mediates the effects of Hedgehog on hypertrophic differentiation and PTHrP expression
-
Alvarez, J. et al. TGF2 mediates the effects of hedgehog on hypertrophic differentiation and PTHrP expression. Development 129, 1913-1924 (2002). (Pubitemid 34874206)
-
(2002)
Development
, vol.129
, Issue.8
, pp. 1913-1924
-
-
Alvarez, J.1
Sohn, P.2
Zeng, X.3
Doetschman, T.4
Robbins, D.J.5
Serra, R.6
-
34
-
-
84866145957
-
Parathyroid hormone-related protein: An update
-
Wysolmerski, J. J. Parathyroid hormone-related protein: an update. J. Clin. Endocrinol. Metab. 97, 2947-2956 (2012).
-
(2012)
J. Clin. Endocrinol. Metab.
, vol.97
, pp. 2947-2956
-
-
Wysolmerski, J.J.1
-
35
-
-
46749111932
-
Indian hedgehog signals independently of PTHrP to promote chondrocyte hypertrophy
-
DOI 10.1242/dev.018044
-
Mak, K. K., Kronenberg, H. M., Chuang, P. T., Mackem, S. & Yang, Y. Indian hedgehog signals independently of PTHrP to promote chondrocyte hypertrophy. Development 135, 1947-1956 (2008). (Pubitemid 351943359)
-
(2008)
Development
, vol.135
, Issue.11
, pp. 1947-1956
-
-
Mak, K.K.1
Kronenberg, H.M.2
Chuang, P.-T.3
Mackem, S.4
Yang, Y.5
-
36
-
-
9344241375
-
PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth
-
Lanske, B. et al. PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth. Science 273, 663-666 (1996). (Pubitemid 26262123)
-
(1996)
Science
, vol.273
, Issue.5275
, pp. 663-666
-
-
Lanske, B.1
Karaplis, A.C.2
Lee, K.3
Luz, A.4
Vortkamp, A.5
Pirro, A.6
Karperien, M.7
Defize, L.H.K.8
Ho, C.9
Mulligan, R.C.10
Abou-Samra, A.-B.11
Juppner, H.12
Segre, G.V.13
Kronenberg, H.M.14
-
37
-
-
78651087393
-
Parathyroid hormone/parathyroid hormone-related protein receptor signaling is required for maintenance of the growth plate in postnatal life
-
Hirai, T. et al. Parathyroid hormone/parathyroid hormone-related protein receptor signaling is required for maintenance of the growth plate in postnatal life. Proc. Natl Acad. Sci. USA 108, 191-196 (2011).
-
(2011)
Proc. Natl Acad. Sci. USA
, vol.108
, pp. 191-196
-
-
Hirai, T.1
-
38
-
-
4043062888
-
Parathyroid hormone-related peptide (PTHrP) inhibits Runx2 expression through the PKA signaling pathway
-
Li, T. F. et al. Parathyroid hormone-related peptide (PTHrP) inhibits Runx2 expression through the PKA signaling pathway. Exp. Cell Res. 299, 128-136 (2004).
-
(2004)
Exp. Cell Res.
, vol.299
, pp. 128-136
-
-
Li, T.F.1
-
39
-
-
70350547780
-
Parathyroid hormone-related peptide represses chondrocyte hypertrophy through a protein phosphatase 2A/histone deacetylase 4/MEF2 pathway
-
Kozhemyakina, E. et al. Parathyroid hormone-related peptide represses chondrocyte hypertrophy through a protein phosphatase 2A/histone deacetylase 4/MEF2 pathway. Mol. Cell Biol. 29, 5751-5762 (2009).
-
(2009)
Mol. Cell Biol.
, vol.29
, pp. 5751-5762
-
-
Kozhemyakina, E.1
-
40
-
-
67650538541
-
PTHrP prevents chondrocyte premature hypertrophy by inducing cyclin-D1-dependent Runx2 and Runx3 phosphorylation, ubiquitylation and proteasomal degradation
-
Zhang, M. et al. PTHrP prevents chondrocyte premature hypertrophy by inducing cyclin-D1-dependent Runx2 and Runx3 phosphorylation, ubiquitylation and proteasomal degradation. J. Cell Sci. 122, 1382-1389 (2009).
-
(2009)
J. Cell Sci.
, vol.122
, pp. 1382-1389
-
-
Zhang, M.1
-
41
-
-
38349166916
-
Interaction between zonal populations of articular chondrocytes suppresses chondrocyte mineralization and this process is mediated by PTHrP
-
Jiang, J. et al. Interaction between zonal populations of articular chondrocytes suppresses chondrocyte mineralization and this process is mediated by PTHrP. Osteoarthritis Cartilage 16, 70-82 (2008).
-
(2008)
Osteoarthritis Cartilage
, vol.16
, pp. 70-82
-
-
Jiang, J.1
-
42
-
-
33846254012
-
Three-dimensional cartilage tissue engineering using adult stem cells from osteoarthritis patients
-
DOI 10.1002/art.22285
-
Kafienah, W. et al. Three-dimensional cartilage tissue engineering using adult stem cells from osteoarthritis patients. Arthritis Rheum. 56, 177-187 (2007). (Pubitemid 46106190)
-
(2007)
Arthritis and Rheumatism
, vol.56
, Issue.1
, pp. 177-187
-
-
Kafienah, W.1
Mistry, S.2
Dickinson, S.C.3
Sims, T.J.4
Learmonth, I.5
Hollander, A.P.6
-
43
-
-
33744917275
-
Effects of arginine-vasopressin and parathyroid hormone-related protein (1-34) on cell proliferation and production of YKL-40 in cultured chondrocytes from patients with rheumatoid arthritis and osteoarthritis
-
DOI 10.1016/j.joca.2006.01.003, PII S1063458406000045
-
Petersson, M. et al. Effects of arginine-vasopressin and parathyroid hormone-related protein (1-34) on cell proliferation and production of YKL-40 in cultured chondrocytes from patients with rheumatoid arthritis and osteoarthritis. Osteoarthritis Cartilage 14, 652-659 (2006). (Pubitemid 43842729)
-
(2006)
Osteoarthritis and Cartilage
, vol.14
, Issue.7
, pp. 652-659
-
-
Petersson, M.1
Bucht, E.2
Granberg, B.3
Stark, A.4
-
44
-
-
77951214450
-
Decrease in the expression of the type 1 PTH/PTHrP receptor (PTH1R) on chondrocytes in animals with osteoarthritis
-
Becher, C. et al. Decrease in the expression of the type 1 PTH/PTHrP receptor (PTH1R) on chondrocytes in animals with osteoarthritis. J. Orthop. Surg. Res. 5, 28 (2010).
-
(2010)
J. Orthop. Surg. Res.
, vol.5
, pp. 28
-
-
Becher, C.1
-
45
-
-
79960978993
-
The expression of SOX trio PTHrP (parathyroid hormone-related peptide)/IHH (Indian hedgehog protein) in surgically induced osteoarthritis of the rat
-
Kim, S. Y. & Im, G. I. The expression of SOX trio, PTHrP (parathyroid hormone-related peptide)/IHH (Indian hedgehog protein) in surgically induced osteoarthritis of the rat. Cell Biol. Int. 35, 529-535 (2011).
-
(2011)
Cell Biol. Int.
, vol.35
, pp. 529-535
-
-
Kim, S.Y.1
Im, G.I.2
-
46
-
-
0033577851
-
Parathyroid hormone-related peptide (PTHrP)-dependent and -independent effects of transforming growth factor β (TGF-β)on endochondral bone formation
-
DOI 10.1083/jcb.145.4.783
-
Serra, R., Karaplis, A. & Sohn, P. Parathyroid hormone-related peptide (PTHrP)-dependent and-independent effects of transforming growth factor beta (TGF-) on endochondral bone formation. J. Cell Biol. 145, 783-794 (1999). (Pubitemid 29240855)
-
(1999)
Journal of Cell Biology
, vol.145
, Issue.4
, pp. 783-794
-
-
Serra, R.1
Karaplis, A.2
Sohn, P.3
-
47
-
-
84869050198
-
Chondrocyte-intrinsic Smad3 represses Runx2-indicible matrix metalloproteinase 13 expression to maintain articular cartilage and prevent osteoarthritis
-
Chen, C. G. et al. Chondrocyte-intrinsic Smad3 represses Runx2-indicible matrix metalloproteinase 13 expression to maintain articular cartilage and prevent osteoarthritis. Arthritis Rheum. 64, 3278-3289 (2012).
-
(2012)
Arthritis Rheum.
, vol.64
, pp. 3278-3289
-
-
Chen, C.G.1
-
48
-
-
67649216115
-
Increase in ALK1/ALK5 ratio as a cause for elevated MMP-13 expression in osteoarthritis in humans and mice
-
Blaney Davidson, E. N. et al. Increase in ALK1/ALK5 ratio as a cause for elevated MMP-13 expression in osteoarthritis in humans and mice. J. Immunol. 182, 7937-7945 (2009).
-
(2009)
J. Immunol.
, vol.182
, pp. 7937-7945
-
-
Blaney Davidson, E.N.1
-
49
-
-
0035795409
-
TGF-β/Smad3 signals repress chondrocyte hypertrophic differentiation and are required for maintaining articular cartilage
-
DOI 10.1083/jcb.153.1.35
-
Yang, X. et al. TGF-/Smad3 signals repress chondrocyte hypertrophic differentiation and are required for maintaining articular cartilage. J. Cell Biol. 153, 35-46 (2001). (Pubitemid 34280192)
-
(2001)
Journal of Cell Biology
, vol.153
, Issue.1
, pp. 35-46
-
-
Yang, X.1
Chen, L.2
Xu, X.3
Li, C.4
Huang, C.5
Deng, C.-X.6
-
50
-
-
54949147630
-
Induction of an osteoarthritis-like phenotype and degradation of phosphorylated Smad3 by Smurf2 in transgenic mice
-
Wu, Q. et al. Induction of an osteoarthritis-like phenotype and degradation of phosphorylated Smad3 by Smurf2 in transgenic mice. Arthritis Rheum. 58, 3132-3144 (2008).
-
(2008)
Arthritis Rheum.
, vol.58
, pp. 3132-3144
-
-
Wu, Q.1
-
51
-
-
79251602475
-
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
-
van de Laar, I. M. et al. Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat. Genet. 43, 121-126 (2011).
-
(2011)
Nat. Genet.
, vol.43
, pp. 121-126
-
-
Van De Laar, I.M.1
-
52
-
-
77955365705
-
Genetic variation in the SMAD3 gene is associated with hip and knee osteoarthritis
-
Valdes, A. M. et al. Genetic variation in the SMAD3 gene is associated with hip and knee osteoarthritis. Arthritis Rheum. 62, 2347-2352 (2010).
-
(2010)
Arthritis Rheum.
, vol.62
, pp. 2347-2352
-
-
Valdes, A.M.1
-
53
-
-
34047103363
-
A functional polymorphism in the 5′ UTR of GDF5 is associated with susceptibility to osteoarthritis
-
DOI 10.1038/2005, PII NG2005
-
Miyamoto, Y. et al. A functional polymorphism in the 5'-UTR of GDF5 is associated with susceptibility to osteoarthritis. Nat. Genet. 39, 529-533 (2007). (Pubitemid 46514783)
-
(2007)
Nature Genetics
, vol.39
, Issue.4
, pp. 529-533
-
-
Miyamoto, Y.1
Mabuchi, A.2
Shi, D.3
Kubo, T.4
Takatori, Y.5
Saito, S.6
Fujioka, M.7
Sudo, A.8
Uchida, A.9
Yamamoto, S.10
Ozaki, K.11
Takigawa, M.12
Tanaka, T.13
Nakamura, Y.14
Jiang, Q.15
Ikegawa, S.16
-
54
-
-
34548409926
-
An SNP in the 5′-UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage
-
DOI 10.1093/hmg/ddm174
-
Southam, L. et al. A SNP in the 5'-UTR of GDF5 is associated with osteoarthritis in Europeans and with in vivo differences in allelic expression in articular cartilage. Hum. Mol. Genet. 16, 2226-2232 (2007). (Pubitemid 47354904)
-
(2007)
Human Molecular Genetics
, vol.16
, Issue.18
, pp. 2226-2232
-
-
Southam, L.1
Rodriguez-Lopez, J.2
Wilkins, J.M.3
Pombo-Suarez, M.4
Snelling, S.5
Gomez-Reino, J.J.6
Chapman, K.7
Gonzalez, A.8
Loughlin, J.9
-
55
-
-
0037330644
-
Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes
-
Settle, S. H. et al. Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes. Dev. Biol. 254, 116-130 (2003).
-
(2003)
Dev. Biol.
, vol.254
, pp. 116-130
-
-
Settle, S.H.1
-
56
-
-
0033545218
-
Role of CDMP-1 in skeletal morphogenesis: Promotion of mesenchymal cell recruitment and chondrocyte differentiation
-
DOI 10.1083/jcb.144.1.161
-
Tsumaki, N. et al. Role of CDMP-1 in skeletal morphogenesis: promotion of mesenchymal cell recruitment and chondrocyte differentiation. J. Cell Biol. 144, 161-173 (1999). (Pubitemid 29047019)
-
(1999)
Journal of Cell Biology
, vol.144
, Issue.1
, pp. 161-173
-
-
Tsumaki, N.1
Tanaka, K.2
Arikawa-Hirasawa, E.3
Nakase, T.4
Kimura, T.5
Terrig Thomas, J.6
Ochi, T.7
Luyten, F.P.8
Yamada, Y.9
-
57
-
-
84879360696
-
Growth differentiation factor-5 enhances in vitro mesenchymal stromal cell chondrogenesis and hypertrophy
-
Coleman, C. M. et al. Growth differentiation factor-5 enhances in vitro mesenchymal stromal cell chondrogenesis and hypertrophy. Stem Cells Dev. 22, 1968-1976 (2013).
-
(2013)
Stem Cells Dev.
, vol.22
, pp. 1968-1976
-
-
Coleman, C.M.1
-
58
-
-
0031464970
-
Cartilage-derived morphogenetic protein-1
-
DOI 10.1016/S1357-2725(97)00025-3, PII S1357272597000253
-
Luyten, F. P. Cartilage-derived morphogenetic protein-1. Int. J. Biochem. Cell Biol. 29, 1241-1244 (1997). (Pubitemid 28021709)
-
(1997)
International Journal of Biochemistry and Cell Biology
, vol.29
, Issue.11
, pp. 1241-1244
-
-
Luyten, F.P.1
-
59
-
-
38149128180
-
Differentially regulated expression of growth differentiation factor 5 and bone morphogenetic protein 7 in articular cartilage and synovium in murine chronic arthritis: Potential importance for cartilage breakdown and synovial hypertrophy
-
Bobacz, K. et al. Differentially regulated expression of growth differentiation factor 5 and bone morphogenetic protein 7 in articular cartilage and synovium in murine chronic arthritis: potential importance for cartilage breakdown and synovial hypertrophy. Arthritis Rheum. 58, 109-118 (2008).
-
(2008)
Arthritis Rheum.
, vol.58
, pp. 109-118
-
-
Bobacz, K.1
-
60
-
-
67650074525
-
Functional analysis of the osteoarthritis susceptibility-associated GDF5 regulatory polymorphism
-
Egli, R. et al. Functional analysis of the osteoarthritis susceptibility-associated GDF5 regulatory polymorphism. Arthritis Rheum. 60, 2055-2064 (2009).
-
(2009)
Arthritis Rheum.
, vol.60
, pp. 2055-2064
-
-
Egli, R.1
-
61
-
-
78650666914
-
GDF5 deficiency in mice is associated with instability-driven joint damage, gait and subchondral bone changes
-
Daans, M., Luyten, F. P. & Lories, R. J. GDF5 deficiency in mice is associated with instability-driven joint damage, gait and subchondral bone changes. Ann. Rheum. Dis. 70, 208-213 (2011).
-
(2011)
Ann. Rheum. Dis.
, vol.70
, pp. 208-213
-
-
Daans, M.1
Luyten, F.P.2
Lories, R.J.3
-
62
-
-
0033672686
-
Molecular cloning, expression, and chromosomal mapping of human chondroitin 4-sulfotransferase, whose expression pattern in human tissues is different from that of chondroitin 6-sulfotransferase
-
Okuda, T. et al. Molecular cloning, expression, and chromosomal mapping of human chondroitin 4-sulfotransferase, whose expression pattern in human tissues is different from that of chondroitin 6-sulfotransferase. J. Biochem. 128, 763-770 (2000).
-
(2000)
J. Biochem.
, vol.128
, pp. 763-770
-
-
Okuda, T.1
-
63
-
-
56649100319
-
The structure of glycosaminoglycans and their interactions with proteins
-
Gandhi, N. S. & Mancera, R. L. The structure of glycosaminoglycans and their interactions with proteins. Chem. Biol. Drug Des. 72, 455-482 (2008).
-
(2008)
Chem. Biol. Drug Des.
, vol.72
, pp. 455-482
-
-
Gandhi, N.S.1
Mancera, R.L.2
-
64
-
-
77958178805
-
The roles of chondroitin-4-sulfotransferase-1 in development and disease
-
Klüppel, M. The roles of chondroitin-4-sulfotransferase-1 in development and disease. Prog. Mol. Biol. Transl. Sci. 93, 113-132 (2010).
-
(2010)
Prog. Mol. Biol. Transl. Sci.
, vol.93
, pp. 113-132
-
-
Klüppel, M.1
-
65
-
-
68549083862
-
Sulfation of chondroitin sulfate proteoglycans is necessary for proper Indian hedgehog signaling in the developing growth plate
-
Cortes, M., Baria, A. T. & Schwartz, N. B. Sulfation of chondroitin sulfate proteoglycans is necessary for proper Indian hedgehog signaling in the developing growth plate. Development 136, 1697-1706 (2009).
-
(2009)
Development
, vol.136
, pp. 1697-1706
-
-
Cortes, M.1
Baria, A.T.2
Schwartz, N.B.3
-
66
-
-
44849113821
-
Identification of DIO2 as a new susceptibility locus for symptomatic osteoarthritis
-
DOI 10.1093/hmg/ddn082
-
Meulenbelt, I. et al. Identification of DIO2 as a new susceptibility locus for symptomatic osteoarthritis. Hum. Mol. Genet. 17, 1867-1875 (2008). (Pubitemid 351791514)
-
(2008)
Human Molecular Genetics
, vol.17
, Issue.12
, pp. 1867-1875
-
-
Meulenbelt, I.1
Min, J.L.2
Bos, S.3
Riyazi, N.4
Houwing-Duistermaat, J.J.5
Van Der Wijk, H.-J.6
Kroon, H.M.7
Nakajima, M.8
Ikegawa, S.9
Uitterlinden, A.G.10
Van Meurs, J.B.J.11
Van Der Deure, W.M.12
Visser, T.J.13
Seymour, A.B.14
Lakenberg, N.15
Van Der Breggen, R.16
Kremer, D.17
Van Duijn, C.M.18
Kloppenburg, M.19
Loughlin, J.20
Slagboom, P.E.21
more..
-
67
-
-
84862565364
-
Increased type II deiodinase protein in OA-affected cartilage and allelic imbalance of OA risk polymorphism rs225014 at DIO2 in human OA joint tissues
-
Bos, S. D. et al. Increased type II deiodinase protein in OA-affected cartilage and allelic imbalance of OA risk polymorphism rs225014 at DIO2 in human OA joint tissues. Ann. Rheum. Dis. 71, 1254-1258 (2012).
-
(2012)
Ann. Rheum. Dis.
, vol.71
, pp. 1254-1258
-
-
Bos, S.D.1
-
68
-
-
33947139620
-
Thyroid hormone and the growth plate
-
DOI 10.1007/s11154-006-9012-2, Special issue on Growth and Development, Guest editor: John Fowlkes
-
Shao, Y. Y., Wang, L. & Ballock, R. T. Thyroid hormone and the growth plate. Rev. Endocr. Metab. Disord. 7, 265-271 (2006). (Pubitemid 46399310)
-
(2006)
Reviews in Endocrine and Metabolic Disorders
, vol.7
, Issue.4
, pp. 265-271
-
-
Shao, Y.Y.1
Wang, L.2
Ballock, R.T.3
-
69
-
-
38749083863
-
Thyroid hormone interacts with the Wnt/β-catenin signaling pathway in the terminal differentiation of growth plate chondrocytes
-
DOI 10.1359/jbmr.070806
-
Wang, L., Shao, Y. Y. & Ballock, R. T. Thyroid hormone interacts with the Wnt-catenin signaling pathway in the terminal differentiation of growth plate chondrocytes. J. Bone Miner. Res. 22, 1988-1995 (2007). (Pubitemid 351229315)
-
(2007)
Journal of Bone and Mineral Research
, vol.22
, Issue.12
, pp. 1988-1995
-
-
Wang, L.1
Shao, Y.Y.2
Ballock, R.T.3
-
70
-
-
46549085914
-
Iodothyronine deiodinase enzyme activities in bone
-
Williams, A. J. et al. Iodothyronine deiodinase enzyme activities in bone. Bone 43, 126-134 (2008).
-
(2008)
Bone
, vol.43
, pp. 126-134
-
-
Williams, A.J.1
-
71
-
-
77952140653
-
Optimal bone strength and mineralization requires the type 2 iodothyronine deiodinase is osteoblasts
-
Bassett, J. H. et al. Optimal bone strength and mineralization requires the type 2 iodothyronine deiodinase is osteoblasts. Proc. Natl Acad. Sci. USA 107, 7604-7609 (2010).
-
(2010)
Proc. Natl Acad. Sci. USA
, vol.107
, pp. 7604-7609
-
-
Bassett, J.H.1
-
72
-
-
84873164102
-
Deiodinase 2 upregulation demonstrated in osteoarthritis patients cartilage causes cartilage destruction in tissue-specific transgenic rats
-
Nagase, H. et al. Deiodinase 2 upregulation demonstrated in osteoarthritis patients cartilage causes cartilage destruction in tissue-specific transgenic rats. Osteoarthritis Cartilage 21, 514-523 (2013).
-
(2013)
Osteoarthritis Cartilage
, vol.21
, pp. 514-523
-
-
Nagase, H.1
-
73
-
-
84859510224
-
Notch and the p53 clan of transcription factors
-
Roemer, K. Notch and the p53 clan of transcription factors. Adv. Exp. Med. Biol. 727, 223-240 (2012).
-
(2012)
Adv. Exp. Med. Biol.
, vol.727
, pp. 223-240
-
-
Roemer, K.1
-
74
-
-
80052657539
-
A symphony of regulators centered on p63 to control development of ectoderm-derived structures
-
Guerrini, L, Costanzo, A. & Merlo, G. R. A symphony of regulators centered on p63 to control development of ectoderm-derived structures. J. Biomed. Biotechnol. 2011, 864904 (2011).
-
(2011)
J. Biomed. Biotechnol.
, vol.2011
, pp. 864904
-
-
Guerrini, L.1
Costanzo, A.2
Merlo, G.R.3
-
75
-
-
84859433312
-
Epigenetic mechanisms in cartilage and osteoarthritis: DNA methylation, histone modifications and microRNAs
-
Barter, M. J., Bui, C. & Young, D. A. Epigenetic mechanisms in cartilage and osteoarthritis: DNA methylation, histone modifications and microRNAs. Osteoarthritis Cartilage 20, 339-349 (2012).
-
(2012)
Osteoarthritis Cartilage
, vol.20
, pp. 339-349
-
-
Barter, M.J.1
Bui, C.2
Young, D.A.3
-
76
-
-
79959960773
-
The diverse functions of Dot1 and H3K79 methylation
-
Nguyen, A. T. & Zhang, Y. The diverse functions of Dot1 and H3K79 methylation. Genes Dev. 25, 1345-1358 (2011).
-
(2011)
Genes Dev.
, vol.25
, pp. 1345-1358
-
-
Nguyen, A.T.1
Zhang, Y.2
-
77
-
-
84861422537
-
Genome-wide association and functional studies identify the DOT1L gene to be involved in cartilage thickness and hip osteoarthritis
-
Castaño Betancourt, M. C. et al. Genome-wide association and functional studies identify the DOT1L gene to be involved in cartilage thickness and hip osteoarthritis. Proc. Natl Acad. Sci. USA 109, 8218-8223 (2012).
-
(2012)
Proc. Natl Acad. Sci. USA
, vol.109
, pp. 8218-8223
-
-
Castaño Betancourt, M.C.1
-
78
-
-
84878406779
-
The DOT1L rs12982744 polymorphism is associated with osteoarthritis of the hip with genome-wide statistical significance in males
-
Evangelou, E. et al. The DOT1L rs12982744 polymorphism is associated with osteoarthritis of the hip with genome-wide statistical significance in males. Ann. Rheum. Dis. 72, 1264-1265 (2013).
-
(2013)
Ann. Rheum. Dis.
, vol.72
, pp. 1264-1265
-
-
Evangelou, E.1
-
79
-
-
55249086064
-
New insights into osteoarthritis: Early developmental features of an aging-related disease
-
Bos, S. D., Slagboom, P. E. & Meulenbelt, I. New insights into osteoarthritis: early developmental features of an aging-related disease. Curr. Opin. Rheumatol. 20, 553-559 (2008).
-
(2008)
Curr. Opin. Rheumatol.
, vol.20
, pp. 553-559
-
-
Bos, S.D.1
Slagboom, P.E.2
Meulenbelt, I.3
-
80
-
-
84870531924
-
High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis
-
Eyre, S. et al. High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. Nat. Genet. 44, 1336-1340 (2012).
-
(2012)
Nat. Genet.
, vol.44
, pp. 1336-1340
-
-
Eyre, S.1
-
81
-
-
49849099211
-
Targeting transcription factors for therapeutic benefit
-
Brennan, P., Donev, R. & Hewamana, S. Targeting transcription factors for therapeutic benefit. Mol. Biosyst. 4, 909-919 (2008).
-
(2008)
Mol. Biosyst.
, vol.4
, pp. 909-919
-
-
Brennan, P.1
Donev, R.2
Hewamana, S.3
-
82
-
-
32044434958
-
Decoy molecules based on PNA-DNA chimeras and targeting Sp1 transcription factors inhibit the activity of urokinase-type plasminogen activator receptor (uPAR) promoter
-
Borgatti, M. et al. Decoy molecules based on PNA-DNA chimeras and targeting Sp1 transcription factors inhibit the activity of urokinase-type plasminogen activator receptor (uPAR) promoter. Oncol. Res. 15, 373-383 (2005). (Pubitemid 43198594)
-
(2005)
Oncology Research
, vol.15
, Issue.7-8
, pp. 373-383
-
-
Borgatti, M.1
Boyd, D.D.2
Lampronti, I.3
Bianchi, N.4
Fabbri, E.5
Saviano, M.6
Romanelli, A.7
Pedone, C.8
Gambari, R.9
-
83
-
-
84879671961
-
The identification of trans-acting factors that regulate the expression of GDF5 via the osteoarthritis susceptibility SNP rs143383
-
Syddall, C. M., Reynard, L. N., Young, D. A. & Loughlin, J. The identification of trans-acting factors that regulate the expression of GDF5 via the osteoarthritis susceptibility SNP rs143383. PLoS Genet. 9, e1003557 (2013).
-
(2013)
PLoS Genet.
, vol.9
-
-
Syddall, C.M.1
Reynard, L.N.2
Young, D.A.3
Loughlin, J.4
-
84
-
-
84860331458
-
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture
-
Estrada, K. et al. Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nat. Genet. 44, 491-501 (2012).
-
(2012)
Nat. Genet.
, vol.44
, pp. 491-501
-
-
Estrada, K.1
-
85
-
-
45149117995
-
Family-based association study of polymorphisms in the RUNX2 locus with hand bone length and hand BMD
-
DOI 10.1111/j.1469-1809.2008.00441.x
-
Ermakov, S. et al. Family-based association study of polymorphisms in the RUNX2 locus with hand bone length and hand BMD. Ann. Hum. Genet. 72, 510-518 (2008). (Pubitemid 351833748)
-
(2008)
Annals of Human Genetics
, vol.72
, Issue.4
, pp. 510-518
-
-
Ermakov, S.1
Malkin, I.2
Keter, M.3
Kobyliansky, E.4
Livshits, G.5
-
86
-
-
34848816852
-
Promoter 2 -1025 T/C polymorphism in the RUNX2 gene is associated with femoral neck BMD in Spanish postmenopausal women
-
DOI 10.1007/s00223-007-9069-2
-
Bustamante, M. et al. Promoter 2-1025 T/C polymorphism in the RUNX2 gene is associated with femoral neck BMD in Spanish postmenopausal women. Calcif. Tissue Int. 81, 327-332 (2007). (Pubitemid 47498107)
-
(2007)
Calcified Tissue International
, vol.81
, Issue.4
, pp. 327-332
-
-
Bustamante, M.1
Nogues, X.2
Agueda, L.3
Jurado, S.4
Wesselius, A.5
Caceres, E.6
Carreras, R.7
Ciria, M.8
Mellibovsky, L.9
Balcells, S.10
Diez-Perez, A.11
Grinberg, D.12
-
87
-
-
67349133555
-
Association of a RUNX2 promoter polymorphism with bone mineral density in postmenopausal Korean women
-
Lee, H. J. et al. Association of a RUNX2 promoter polymorphism with bone mineral density in postmenopausal Korean women. Calcif. Tissue Int. 84, 439-445 (2009).
-
(2009)
Calcif. Tissue Int.
, vol.84
, pp. 439-445
-
-
Lee, H.J.1
-
88
-
-
42449091159
-
Brachydactyly type A2 associated with a defect in proGDF5 processing
-
DOI 10.1093/hmg/ddn012
-
Plöger, F. et al. Brachydactyly type A2 associated with a defect in proGDF5 processing. Hum. Mol. Genet. 17, 1222-1233 (2008). (Pubitemid 351566959)
-
(2008)
Human Molecular Genetics
, vol.17
, Issue.9
, pp. 1222-1233
-
-
Ploger, F.1
Seemann, P.2
Schmidt-von Kegler, M.3
Lehmann, K.4
Seidel, J.5
Kjaer, K.W.6
Pohl, J.7
Mundlos, S.8
-
89
-
-
0031230465
-
Mutations in CDMP1 cause autosomal dominant brachydactyly type C
-
Polinkovsky, A. et al. Mutations in CDMP1 cause autosomal dominant brachydactyly type C. Nat. Genet. 17, 18-19 (1997).
-
(1997)
Nat. Genet.
, vol.17
, pp. 18-19
-
-
Polinkovsky, A.1
-
90
-
-
0029936784
-
A human chondrodysplasia due to a mutation in TGF superfamily member
-
Thomas, J. T. et al. A human chondrodysplasia due to a mutation in TGF superfamily member. Nat. Genet. 12, 315-317 (1996).
-
(1996)
Nat. Genet.
, vol.12
, pp. 315-317
-
-
Thomas, J.T.1
-
91
-
-
0030763771
-
Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1
-
DOI 10.1038/ng0997-58
-
Thomas, J. T. et al. Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1. Nat. Genet. 17, 58-64 (1997). (Pubitemid 27377532)
-
(1997)
Nature Genetics
, vol.17
, Issue.1
, pp. 58-64
-
-
Thomas, J.T.1
Kilpatrick, M.W.2
Lin, K.3
Erlacher, L.4
Lembessis, P.5
Costa, T.6
Tsipouras, P.7
Luyten, F.P.8
-
92
-
-
27444432536
-
Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene
-
DOI 10.1002/ajmg.a.30969
-
Szczaluba, K. et al. Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene. Am. J. Med. Genet. A. 138, 379-383 (2005). (Pubitemid 41532958)
-
(2005)
American Journal of Medical Genetics
, vol.A138
, Issue.4
, pp. 379-383
-
-
Szczaluba, K.1
Hubert, K.2
Obersztyn, E.3
Zabel, B.4
Mazurczak, T.5
Kozlowski, K.6
-
93
-
-
33645465013
-
GDF5 is a second locus for multiple-synostosis syndrome
-
Dawson, K. et al. GDF5 is a second locus for multiple-synostosis syndrome. Am. J. Hum. Genet. 78, 708-712 (2006).
-
(2006)
Am. J. Hum. Genet.
, vol.78
, pp. 708-712
-
-
Dawson, K.1
-
94
-
-
77649235558
-
Deletion and point mutations of PTHLH cause brachydactyly type e
-
Klopocki, E. et al. Deletion and point mutations of PTHLH cause brachydactyly type E. Am. J. Hum. Genet. 86, 434-439 (2010).
-
(2010)
Am. J. Hum. Genet.
, vol.86
, pp. 434-439
-
-
Klopocki, E.1
-
95
-
-
0032744735
-
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
-
DOI 10.1016/S0092-8674(00)81646-3
-
Celli, J. et al. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell 99, 143-153 (1999). (Pubitemid 29491781)
-
(1999)
Cell
, vol.99
, Issue.2
, pp. 143-153
-
-
Celli, J.1
Duijf, P.2
Hamel, B.C.J.3
Bamshad, M.4
Kramer, B.5
Smits, A.P.T.6
Newbury-Ecob, R.7
Hennekam, R.C.M.8
Van Buggenhout, G.9
Van Haeringen, A.10
Geoffrey Woods, C.11
Van Essen, A.J.12
De Waal, R.13
Vriend, G.14
Haber, D.A.15
Yang, A.16
McKeon, F.17
Brunner, H.G.18
Van Bokhoven, H.19
-
96
-
-
0034892604
-
P63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation
-
DOI 10.1086/323123
-
van Bokhoven, H. et al. p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am. J. Hum. Genet. 69, 481-492 (2001). (Pubitemid 32777688)
-
(2001)
American Journal of Human Genetics
, vol.69
, Issue.3
, pp. 481-492
-
-
Van Bokhoven, H.1
Hamel, B.C.J.2
Bamshad, M.3
Sangiorgi, E.4
Gurrieri, F.5
Duijf, P.H.G.6
Vanmolkot, K.R.J.7
Van Beusekom, E.8
Van Beersum, S.E.C.9
Celli, J.10
Merkx, G.F.M.11
Tenconi, R.12
Fryns, J.P.13
Verloes, A.14
Newbury-Ecob, R.A.15
Raas-Rotschild, A.16
Majewski, F.17
Beemer, F.A.18
Janecke, A.19
Chitayat, D.20
Crisponi, G.21
Kayserili, H.22
Yates, J.R.W.23
Neri, G.24
Brunner, H.G.25
more..
-
97
-
-
0033926317
-
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27
-
DOI 10.1086/302972
-
Ianakiev, P. et al. Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. Am. J. Hum. Genet. 67, 59-66 (2000). (Pubitemid 30481544)
-
(2000)
American Journal of Human Genetics
, vol.67
, Issue.1
, pp. 59-66
-
-
Ianakiev, P.1
Kilpatrick, M.W.2
Toudjarska, I.3
Basel, D.4
Beighton, P.5
Tsipouras, P.6
-
98
-
-
15444351110
-
Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia
-
Mundlos, S. et al. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 89, 773-779 (1997). (Pubitemid 27516180)
-
(1997)
Cell
, vol.89
, Issue.5
, pp. 773-779
-
-
Mundlos, S.1
Otto, F.2
Mundlos, C.3
Mulliken, J.B.4
Aylsworth, A.S.5
Albright, S.6
Lindhout, D.7
Cole, W.G.8
Henn, W.9
Knoll, J.H.M.10
Owen, M.J.11
Mertelsmann, R.12
Zabel, B.U.13
Olsen, B.R.14
-
99
-
-
77957947562
-
Hundreds of variants clustered in genomic loci and biological pathways affect human height
-
Lango Allen, H. et al. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 467, 832-838 (2010).
-
(2010)
Nature
, vol.467
, pp. 832-838
-
-
Lango Allen, H.1
-
100
-
-
42649092874
-
Identification of ten loci associated with height highlights new biological pathways in human growth
-
DOI 10.1038/ng.125, PII NG125
-
Lettre, G. et al. Identification of ten loci associated with height highlights new biological pathways in human growth. Nat. Genet. 40, 584-591 (2008). (Pubitemid 351601214)
-
(2008)
Nature Genetics
, vol.40
, Issue.5
, pp. 584-591
-
-
Lettre, G.1
Jackson, A.U.2
Gieger, C.3
Schumacher, F.R.4
Berndt, S.I.5
Sanna, S.6
Eyheramendy, S.7
Voight, B.F.8
Butler, J.L.9
Guiducci, C.10
Illig, T.11
Hackett, R.12
Heid, I.M.13
Jacobs, K.B.14
Lyssenko, V.15
Uda, M.16
Boehnke, M.17
Chanock, S.J.18
Groop, L.C.19
Hu, F.B.20
Isomaa, B.21
Kraft, P.22
Peltonen, L.23
Salomaa, V.24
Schlessinger, D.25
Hunter, D.J.26
Hayes, R.B.27
Abecasis, G.R.28
Wichmann, H.-E.29
Mohlke, K.L.30
Hirschhorn, J.N.31
more..
-
101
-
-
77953338684
-
The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature
-
Zhao, J. et al. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. BMC Med. Genet. 11, 96 (2010).
-
(2010)
BMC Med. Genet.
, vol.11
, pp. 96
-
-
Zhao, J.1
-
102
-
-
38649121127
-
Common variants in the GDF5-UQCC region are associated with variation in human height
-
DOI 10.1038/ng.74, PII NG74
-
Sanna, S. et al. Common variants in the GDF5-UQCC region are associated with variation in human height. Nat. Genet. 40, 198-203 (2008). (Pubitemid 351171401)
-
(2008)
Nature Genetics
, vol.40
, Issue.2
, pp. 198-203
-
-
Sanna, S.1
Jackson, A.U.2
Nagaraja, R.3
Willer, C.J.4
Chen, W.-M.5
Bonnycastle, L.L.6
Shen, H.7
Timpson, N.8
Lettre, G.9
Usala, G.10
Chines, P.S.11
Stringham, H.M.12
Scott, L.J.13
Dei, M.14
Lai, S.15
Albai, G.16
Crisponi, L.17
Naitza, S.18
Doheny, K.F.19
Pugh, E.W.20
Ben-Shlomo, Y.21
Ebrahim, S.22
Lawlor, D.A.23
Bergman, R.N.24
Watanabe, R.M.25
Uda, M.26
Tuomilehto, J.27
Coresh, J.28
Hirschhorn, J.N.29
Shuldiner, A.R.30
Schlessinger, D.31
Collins, F.S.32
Smith, G.D.33
Boerwinkle, E.34
Cao, A.35
Boehnke, M.36
Abecasis, G.R.37
Mohlke, K.L.38
more..
-
103
-
-
84864278900
-
Adaptive evolution of loci covarying with the human African Pygmy phenotype
-
Mendizabal, I, Marigorta, U. M., Lao, O. & Comas, D. Adaptive evolution of loci covarying with the human African Pygmy phenotype. Hum. Genet. 131, 1305-1317 (2012).
-
(2012)
Hum. Genet.
, vol.131
, pp. 1305-1317
-
-
Mendizabal, I.1
Marigorta, U.M.2
Lao, O.3
Comas, D.4
-
104
-
-
42649118126
-
Many sequence variants affecting diversity of adult human height
-
DOI 10.1038/ng.122, PII NG122
-
Gudbjartsson, D. F. et al. Many sequence variants affecting diversity of adult human height. Nat. Genet. 40, 609-615 (2008). (Pubitemid 351601211)
-
(2008)
Nature Genetics
, vol.40
, Issue.5
, pp. 609-615
-
-
Gudbjartsson, D.F.1
Walters, G.B.2
Thorleifsson, G.3
Stefansson, H.4
Halldorsson, B.V.5
Zusmanovich, P.6
Sulem, P.7
Thorlacius, S.8
Gylfason, A.9
Steinberg, S.10
Helgadottir, A.11
Ingason, A.12
Steinthorsdottir, V.13
Olafsdottir, E.J.14
Olafsdottir, G.H.15
Jonsson, T.16
Borch-Johnsen, K.17
Hansen, T.18
Andersen, G.19
Jorgensen, T.20
Pedersen, O.21
Aben, K.K.22
Witjes, J.A.23
Swinkels, D.W.24
Heijer, M.D.25
Franke, B.26
Verbeek, A.L.M.27
Becker, D.M.28
Yanek, L.R.29
Becker, L.C.30
Tryggvadottir, L.31
Rafnar, T.32
Gulcher, J.33
Kiemeney, L.A.34
Kong, A.35
Thorsteinsdottir, U.36
Stefansson, K.37
more..
-
105
-
-
31544483312
-
Variation in femoral length is associated with polymorphisms in RUNX2 gene
-
DOI 10.1016/j.bone.2005.08.008, PII S8756328205003388
-
Ermakov, S., Malkin, I., Kobyliansky, E. & Livshits, G. Variation in femoral length is associated with polymorphism in RUNX2 gene. Bone 38, 199-205 (2006). (Pubitemid 43165785)
-
(2006)
Bone
, vol.38
, Issue.2
, pp. 199-205
-
-
Ermakov, S.1
Malkin, I.2
Kobyliansky, E.3
Livshits, G.4
-
106
-
-
76149144003
-
Identification of 15 loci influencing height in a Korean population
-
Kim, J. J. et al. Identification of 15 loci influencing height in a Korean population. J. Hum. Genet. 55, 27-31 (2010).
-
(2010)
J. Hum. Genet.
, vol.55
, pp. 27-31
-
-
Kim, J.J.1
-
107
-
-
84877630278
-
Evaluation of the genetic overlap between osteoarthritis with body mass index and height using genome-wide association scan data
-
Elliott, K. S. et al. Evaluation of the genetic overlap between osteoarthritis with body mass index and height using genome-wide association scan data. Ann. Rheum. Dis. 72, 935-941 (2013).
-
(2013)
Ann. Rheum. Dis.
, vol.72
, pp. 935-941
-
-
Elliott, K.S.1
-
108
-
-
77957779695
-
The association between the COL12A1 gene and anterior cruciate ligament ruptures
-
Posthumus, M. et al. The association between the COL12A1 gene and anterior cruciate ligament ruptures. Br. J. Sports Med. 44, 1160-1165 (2010).
-
(2010)
Br. J. Sports Med.
, vol.44
, pp. 1160-1165
-
-
Posthumus, M.1
-
109
-
-
79953679565
-
GDF5 single-nucleotide polymorphism rs143383 is associated with lumbar disc degeneration in Northern European women
-
Williams, F. M. et al. GDF5 single-nucleotide polymorphism rs143383 is associated with lumbar disc degeneration in Northern European women. Arthritis Rheum. 63, 708-712 (2011).
-
(2011)
Arthritis Rheum.
, vol.63
, pp. 708-712
-
-
Williams, F.M.1
-
110
-
-
77956009674
-
Evidence of association between GDF5 polymorphisms and congenital dislocation of the hip in a Caucasian population
-
Rouault, K. et al. Evidence of association between GDF5 polymorphisms and congenital dislocation of the hip in a Caucasian population. Osteoarthritis Cartilage 18, 1144-1149 (2010).
-
(2010)
Osteoarthritis Cartilage
, vol.18
, pp. 1144-1149
-
-
Rouault, K.1
-
111
-
-
78649375679
-
Components of the transforming growth factor family and the pathogenesis of human Achilles tendon pathology-a genetic association study
-
(Oxford)
-
Posthumus, M. et al. Components of the transforming growth factor family and the pathogenesis of human Achilles tendon pathology-a genetic association study. Rheumatology (Oxford) 49, 2090-2097 (2010).
-
(2010)
Rheumatology
, vol.49
, pp. 2090-2097
-
-
Posthumus, M.1
-
112
-
-
78649245269
-
RUNX2 polymorphisms associated with OPLL and OLF in the Han population
-
Liu, Y. et al. RUNX2 polymorphisms associated with OPLL and OLF in the Han population. Clin. Orthop. Relat. Res. 468, 3333-3341 (2010).
-
(2010)
Clin. Orthop. Relat. Res.
, vol.468
, pp. 3333-3341
-
-
Liu, Y.1
-
114
-
-
84885308901
-
-
GWAS Central. GWAS Central 7.0 [online]
-
GWAS Central. GWAS Central 7.0 [online], https://www.gwascentral.org/ (2012).
-
(2012)
-
-
-
115
-
-
84885309212
-
-
NIH Genetic Association Database [online]
-
NIH. Genetic Association Database [online], http://geneticassociationdb. nih.gov/(2011).
-
(2011)
-
-
|