-
1
-
-
0024616653
-
Birth prevalence rates of skeletal dysplasias
-
2785882 1:STN:280:DyaL1M3kvF2msQ%3D%3D
-
C. Stoll B. Dott M.P. Roth Y. Alembik 1989 Birth prevalence rates of skeletal dysplasias Clin Genet 35 88 92 2785882 1:STN:280:DyaL1M3kvF2msQ%3D%3D
-
(1989)
Clin Genet
, vol.35
, pp. 88-92
-
-
Stoll, C.1
Dott, B.2
Roth, M.P.3
Alembik, Y.4
-
2
-
-
0032231407
-
Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome
-
DOI 10.1086/302000
-
D.J. Wilkin J.K. Szabo R. Cameron S. Henderson G.A. Bellus M.L. Mack, et al. 1998 Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome Am J Hum Genet 63 711 716 9718331 10.1086/302000 1:CAS:528:DyaK1cXmt1Gqurc%3D (Pubitemid 30422670)
-
(1998)
American Journal of Human Genetics
, vol.63
, Issue.3
, pp. 711-716
-
-
Wilkin, D.J.1
Szabo, J.K.2
Cameron, R.3
Henderson, S.4
Bellus, G.A.5
Mack, M.L.6
Kaitila, I.7
Loughlin, J.8
Munnich, A.9
Sykes, B.10
Bonaventure, J.11
Francomano, C.A.12
-
3
-
-
0033361757
-
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene
-
DOI 10.1086/302275
-
P.L. Tavormina G.A. Bellus M.K. Webster M.J. Bamshad A.E. Fraley I. McIntosh, et al. 1999 A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene Am J Hum Genet 64 722 731 10053006 10.1086/302275 1:CAS:528:DyaK1MXitFCht7w%3D (Pubitemid 30460414)
-
(1999)
American Journal of Human Genetics
, vol.64
, Issue.3
, pp. 722-731
-
-
Tavormina, P.L.1
Bellus, G.A.2
Webster, M.K.3
Bamshad, M.J.4
Fraley, A.E.5
McIntosh, I.6
Szabo, J.7
Jiang, W.8
Jabs, E.W.9
Wilcox, W.R.10
Wasmuth, J.J.11
Donoghue, D.J.12
Thompson, L.M.13
Francomano, C.A.14
-
4
-
-
1842848098
-
Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism
-
DOI 10.1023/A:1020914026829
-
W.A. Horton G.P. Lunstrum 2002 Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism Rev Endocr Metab Disord 3 381 385 12424440 10.1023/A:1020914026829 1:CAS:528:DC%2BD38XosV2hurs%3D (Pubitemid 41448832)
-
(2002)
Reviews in Endocrine and Metabolic Disorders
, vol.3
, Issue.4
, pp. 381-385
-
-
Horton, W.A.1
Lunstrum, G.P.2
-
8
-
-
0037097976
-
FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease
-
DOI 10.1101/gad.990702
-
D.M. Ornitz J.P. Marie 2002 FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease Genes Dev 16 1446 1445 12080084 10.1101/gad.990702 1:CAS:528:DC%2BD38XltVGmtL8%3D (Pubitemid 34686327)
-
(2002)
Genes and Development
, vol.16
, Issue.12
, pp. 1446-1465
-
-
Ornitz, D.M.1
Marie, P.J.2
-
9
-
-
0034644539
-
Cell signalling by receptor tyrosine kinases
-
11057895 10.1016/S0092-8674(00)00114-8 1:CAS:528:DC%2BD3cXns1Cltrs%3D
-
J. Schlessinger 2000 Cell signalling by receptor tyrosine kinases Cell 103 211 225 11057895 10.1016/S0092-8674(00)00114-8 1:CAS:528: DC%2BD3cXns1Cltrs%3D
-
(2000)
Cell
, vol.103
, pp. 211-225
-
-
Schlessinger, J.1
-
10
-
-
0030896404
-
Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism
-
DOI 10.1038/386288a0
-
W.C. Su M. Kitagawa N. Xue B. Xie S. Garofalo J. Cho, et al. 1997 Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism Nature 386 288 292 9069288 10.1038/386288a0 1:CAS:528:DyaK2sXitVKhsLk%3D (Pubitemid 27142515)
-
(1997)
Nature
, vol.386
, Issue.6622
, pp. 288-292
-
-
Su, W.-C.S.1
Kitagawa, M.2
Xue, N.3
Xie, B.4
Garofalo, S.5
Cho, J.6
Deng, C.7
Horton, W.A.8
Fu, X.-Y.9
-
11
-
-
0942268156
-
Cip1 correlates with phenotypic severity and defective chondrocyte differentiation in FGFR3-related chondrodysplasias
-
DOI 10.1016/j.bone.2003.09.002
-
L. Legeai-Mallet C. Benoist-Lasselin A. Munnich J. Bonaventure 2004 Overexpression of FGFR3, Stat1, Stat5 and p21Cip1 correlates with phenotypic severity and defective chondrocyte differentiation in FGFR3-related chondrodysplasias Bone 34 26 36 14751560 10.1016/j.bone.2003.09.002 1:CAS:528:DC%2BD2cXnvVequg%3D%3D (Pubitemid 38142431)
-
(2004)
Bone
, vol.34
, Issue.1
, pp. 26-36
-
-
Legeai-Mallet, L.1
Benoist-Lasselin, C.2
Munnich, A.3
Bonaventure, J.4
-
12
-
-
0033151612
-
FGF signaling inhibits chondrocyte proliferation and regulates bone development through the STAT-1 pathway
-
10364154 10.1101/gad.13.11.1361 1:CAS:528:DyaK1MXjvVahs7s%3D
-
M. Sahni D.C. Ambrosetti A. Mansukhani R. Gertner D. Levy C. Basilico 1999 FGF signaling inhibits chondrocyte proliferation and regulates bone development through the STAT-1 pathway Genes Dev 13 1361 1366 10364154 10.1101/gad.13.11.1361 1:CAS:528:DyaK1MXjvVahs7s%3D
-
(1999)
Genes Dev
, vol.13
, pp. 1361-1366
-
-
Sahni, M.1
Ambrosetti, D.C.2
Mansukhani, A.3
Gertner, R.4
Levy, D.5
Basilico, C.6
-
13
-
-
0037013284
-
Interaction of fibroblast growth factor receptor 3 and the adapter protein SH2-B. A role in Stat5 activation
-
DOI 10.1074/jbc.M102777200
-
M. Kong C.S. Wang D.J. Donoghue 2002 Interaction of fibroblast growth factor receptor 3 and the adapter protein SH2-B. A role in STAT5 activation J Biol Chem 277 15962 15970 11827956 10.1074/jbc.M102777200 1:CAS:528: DC%2BD38Xjs1Wjt78%3D (Pubitemid 34967878)
-
(2002)
Journal of Biological Chemistry
, vol.277
, Issue.18
, pp. 15962-15970
-
-
Kong, M.1
Wang, C.S.2
Donoghue, D.J.3
-
14
-
-
0036510743
-
Regulation of osteoblast, chondrocyte, and osteoclast functions by fibroblast growth factor (FGF)-18 in comparison with FGF-2 and FGF-10
-
DOI 10.1074/jbc.M108653200
-
T. Shimoaka T. Ogasawara A. Yonamine D. Chikazu H. Kawano K. Nakamura, et al. 2002 Regulation of osteoblast, chondrocyte, and osteoclast functions by fibroblast growth factor (FGF)-18 in comparison with FGF-2 and FGF- 10 J Biol Chem 277 7493 7500 11741978 10.1074/jbc.M108653200 1:CAS:528: DC%2BD38XitV2lsbg%3D (Pubitemid 34953147)
-
(2002)
Journal of Biological Chemistry
, vol.277
, Issue.9
, pp. 7493-7500
-
-
Shimoaka, T.1
Ogasawara, T.2
Yonamine, A.3
Chikazu, D.4
Kawano, H.5
Nakamura, K.6
Itoh, N.7
Kawaguchi, H.8
-
15
-
-
0029928791
-
Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3
-
DOI 10.1038/ng0496-390
-
J.S. Colvin B.A. Bohne G.W. Harding D.G. McEwen D.M. Ornitz 1996 Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3 Nat Genet 12 390 397 8630492 10.1038/ng0496-390 1:CAS:528:DyaK28XjtFaju7c%3D (Pubitemid 26105928)
-
(1996)
Nature Genetics
, vol.12
, Issue.4
, pp. 390-397
-
-
Colvin, J.S.1
Bohne, B.A.2
Harding, G.W.3
McEwen, D.G.4
Ornitz, D.M.5
-
16
-
-
0029917507
-
Fibroblast growth factor receptor 3 is a negative regulator of bone growth
-
DOI 10.1016/S0092-8674(00)81069-7
-
C. Deng A. Wynshaw-Boris F. Zhou A. Kuo P. Leder 1996 Fibroblast growth factor receptor 3 is a negative regulator of bone growth Cell 84 911 921 8601314 10.1016/S0092-8674(00)81069-7 1:CAS:528:DyaK28XhvFKjs78%3D (Pubitemid 26106860)
-
(1996)
Cell
, vol.84
, Issue.6
, pp. 911-921
-
-
Deng, C.1
Wynshaw-Boris, A.2
Zhou, F.3
Kuo, A.4
Leder, P.5
-
17
-
-
0033456159
-
Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis
-
10587515 10.1172/JCI6690 1:CAS:528:DyaK1MXnvF2nt7c%3D
-
L. Chen R. Adar X. Yang E.O. Monsonego C. Li P.V. Hauschka, et al. 1999 Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis J Clin Invest 104 1517 1525 10587515 10.1172/JCI6690 1:CAS:528:DyaK1MXnvF2nt7c%3D
-
(1999)
J Clin Invest
, vol.104
, pp. 1517-1525
-
-
Chen, L.1
Adar, R.2
Yang, X.3
Monsonego, E.O.4
Li, C.5
Hauschka, P.V.6
-
18
-
-
13044278311
-
A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3
-
DOI 10.1073/pnas.96.8.4455
-
Y. Wang M.K. Spatz K. Kannan H. Hayk A. Avivi M. Gorivodsky, et al. 1999 A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3 Proc Natl Acad Sci U S A 96 4455 4460 10200283 10.1073/pnas.96.8.4455 1:CAS:528:DyaK1MXjs1yls70%3D (Pubitemid 29190357)
-
(1999)
Proceedings of the National Academy of Sciences of the United States of America
, vol.96
, Issue.8
, pp. 4455-4460
-
-
Wang, Y.1
Spatz, M.K.2
Kannan, K.3
Hayk, H.4
Avivi, A.5
Gorivodsky, M.6
Pines, M.7
Yayon, A.8
Lonai, P.9
Givol, D.10
-
19
-
-
0032938128
-
A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors
-
DOI 10.1093/hmg/8.1.35
-
C. Li L. Chen T. Iwata M. Kitagawa X.Y. Fu C.X. Deng 1999 A Lys-644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors Hum Mol Genet 8 35 44 9887329 10.1093/hmg/8.1.35 1:CAS:528:DyaK1MXoslemsQ%3D%3D (Pubitemid 29039046)
-
(1999)
Human Molecular Genetics
, vol.8
, Issue.1
, pp. 35-44
-
-
Li, C.1
Chen, L.2
Iwata, T.3
Kitagawa, M.4
Fu, X.-Y.5
Deng, C.-X.6
-
20
-
-
1042289662
-
Constitutive activation of MEK1 in chondrocytes causes Stat1-independent achondroplasia-like dwarfism and rescues the Fgfr3-deficient mouse phenotype
-
DOI 10.1101/gad.1179104
-
S. Murakami G. Balmes S. McKinney Z. Zhang D. Givol B. de Crombrugghe 2004 Constitutive activation of MEK1 in chondrocytes causes Stat1-independent achondroplasia-like dwarfism and rescues the FGFR3-deficient mouse phenotype Genes Dev 18 290 305 14871928 10.1101/gad.1179104 1:CAS:528:DC%2BD2cXhsFalt78%3D (Pubitemid 38199254)
-
(2004)
Genes and Development
, vol.18
, Issue.3
, pp. 290-305
-
-
Murakami, S.1
Balmes, G.2
McKinney, S.3
Zhang, Z.4
Givol, D.5
De Crombrugghe, B.6
-
21
-
-
0030730826
-
An improved methodology for the detection of the common mutation in the FGFR3 gene responsible for achondroplasia
-
DOI 10.1002/(SICI)1098-1004(1997)10:6<496::AID-HUMU13>3.0.CO;2-V
-
R.W. Lanning C.A. Brown 1997 An improved methodology for the detection of the common mutation in the FGFR3 gene responsible for achondroplasia Hum Mutat 10 496 499 9401015 10.1002/(SICI)1098-1004(1997)10:6<496::AID-HUMU13>3.0. CO;2-V 1:CAS:528:DyaK1cXjvVKk (Pubitemid 27523064)
-
(1997)
Human Mutation
, vol.10
, Issue.6
, pp. 496-499
-
-
Lanning, R.W.1
Brown, C.A.2
-
22
-
-
1842329140
-
Human fibroblast growth factor receptor 3 gene (FGFR3): Genomic sequence and primer set information for gene analysis
-
DOI 10.1007/s004390050493
-
C. Wüchner K. Hilbert B. Zabel A. Winterpacht 1997 Human fibroblast growth factor receptor 3 gene (FGFR3): genomic sequence and primer set information for gene analysis Hum Genet 100 215 219 9254852 10.1007/ s004390050493 (Pubitemid 27338793)
-
(1997)
Human Genetics
, vol.100
, Issue.2
, pp. 215-219
-
-
Wuchner, C.1
Hilbert, K.2
Zabel, B.3
Winterpacht, A.4
-
23
-
-
34447288267
-
-
DOI 10.1016/S0140-6736(07)61090-3, PII S0140673607610903
-
W.A. Horton J.G. Hall J.T. Hecht 2007 Achondroplasia Lancet 370 162 172 17630040 10.1016/S0140-6736(07)61090-3 1:CAS:528:DC%2BD2sXns12jtLk%3D (Pubitemid 47044938)
-
(2007)
Achondroplasia Lancet
, vol.370
, Issue.9582
, pp. 162-172
-
-
Horton, W.A.1
Hall, J.G.2
Hecht, J.T.3
-
24
-
-
33751330697
-
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia
-
DOI 10.1038/sj.ejhg.5201700, PII 5201700
-
S. Heuertz M. Le Merrer B. Zabel M. Wright L. Legeai-Mallet V. Cormier-Daire, et al. 2006 Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia Eur J Hum Genet 14 1240 1247 16912704 10.1038/sj.ejhg.5201700 1:CAS:528:DC%2BD28Xht1aku7nN (Pubitemid 44804029)
-
(2006)
European Journal of Human Genetics
, vol.14
, Issue.12
, pp. 1240-1247
-
-
Heuertz, S.1
Le Merrer, M.2
Zabel, B.3
Wright, M.4
Legeai-Mallet, L.5
Cormier-Daire, V.6
Gibbs, L.7
Bonaventure, J.8
-
25
-
-
39749136267
-
Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: A response to Heuertz et al
-
DOI 10.1038/sj.ejhg.5201931, PII 5201931
-
M.J. Friez J.A. Wilson 2008 Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al Eur J Hum Genet 16 277 278 17895900 10.1038/sj.ejhg.5201931 1:CAS:528:DC%2BD1cXisVSrtb8%3D (Pubitemid 351292227)
-
(2008)
European Journal of Human Genetics
, vol.16
, Issue.3
, pp. 277-278
-
-
Friez, M.J.1
Wilson, J.A.P.2
-
26
-
-
58849084644
-
Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding fibroblast growth factor receptor 3 (FGFR3) in Portugal
-
19215249 10.1111/j.1399-0004.2008.01123.x 1:CAS:528:DC%2BD1MXjtFKksbk%3D
-
M.R. Almeida A.B. Campos-Xavier A. Medeira I. Cordeiro A.B. Sousa M. Lima, et al. 2009 Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding fibroblast growth factor receptor 3 (FGFR3) in Portugal Clin Genet 75 150 156 19215249 10.1111/j.1399-0004.2008. 01123.x 1:CAS:528:DC%2BD1MXjtFKksbk%3D
-
(2009)
Clin Genet
, vol.75
, pp. 150-156
-
-
Almeida, M.R.1
Campos-Xavier, A.B.2
Medeira, A.3
Cordeiro, I.4
Sousa, A.B.5
Lima, M.6
-
27
-
-
20444497711
-
Sustained ERK1/2 but not STAT1 or 3 activation is required for thanatophoric dysplasia phenotypes in PC12 cells
-
DOI 10.1093/hmg/ddi161
-
N. Nowroozi S. Raffion T. Wang B.L. Apostol R.A. Bradshaw L.M. Thompson 2005 Sustained ERK1/2 but not STAT1 or 3 activation is required for thanatophoric dysplasia phenotypes in PC12 cells Hum Mol Genet 14 1529 1538 15843401 10.1093/hmg/ddi161 1:CAS:528:DC%2BD2MXktlKqt7s%3D (Pubitemid 40823461)
-
(2005)
Human Molecular Genetics
, vol.14
, Issue.11
, pp. 1529-1538
-
-
Nowroozi, N.1
Raffioni, S.2
Wang, T.3
Apostol, B.L.4
Bradshaw, R.A.5
Thompson, L.M.6
-
28
-
-
3242709056
-
Cell cycle control: A complex issue
-
14726706 1:CAS:528:DC%2BD2cXltFKrsbY%3D
-
N. Olashaw T.K. Bagui W.J. Pledger 2004 Cell cycle control: a complex issue Cell Cycle 3 263 264 14726706 1:CAS:528:DC%2BD2cXltFKrsbY%3D
-
(2004)
Cell Cycle
, vol.3
, pp. 263-264
-
-
Olashaw, N.1
Bagui, T.K.2
Pledger, W.J.3
-
29
-
-
1642540254
-
CIP1/WAF1/SDI
-
DOI 10.1128/MCB.24.3.1188-1199.2004
-
H. Kang K. Cui K. Zhao 2004 BRG1 controls the activity of the retinoblastoma protein via regulation of p21CIP1/WAF1/SDI Mol Cell Biol 24 1188 1199 14729964 10.1128/MCB.24.3.1188-1199.2004 1:CAS:528:DC%2BD2cXmsFWntg%3D%3D (Pubitemid 38112181)
-
(2004)
Molecular and Cellular Biology
, vol.24
, Issue.3
, pp. 1188-1199
-
-
Kang, H.1
Cui, K.2
Zhao, K.3
-
30
-
-
0037153424
-
Kip1
-
DOI 10.1038/sj.onc.1206019
-
M. Sugimoto N. Martin D.P. Wilks K. Tamai T.J. Huot C. Pantoja, et al. 2002 Activation of cyclin D1-kinase in murine fibroblasts lacking both p21(Cip1) and p27(Kip1) Oncogene 21 8067 8074 12444543 10.1038/sj.onc.1206019 1:CAS:528:DC%2BD38XovVWhsr4%3D (Pubitemid 35454410)
-
(2002)
Oncogene
, vol.21
, Issue.53
, pp. 8067-8074
-
-
Sugimoto, M.1
Martin, N.2
Wilks, D.P.3
Tamai, K.4
Huot, T.J.G.5
Pantoja, C.6
Okumura, K.7
Serrano, M.8
Hara, E.9
|