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of outstanding interest. This paper provides an extensive study of Sox9 and type II collagen gene coexpression during mouse development. This paper also shows that Sox9 can bind and activate transcription through a consensus SOX/SRY element
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Ng LJ, Wheatley S, Muscat GE, Conway-Campbell J, Bowles J, Wright E, Bell DM, Tam PP, Cheah KS, Koopman P. SOX9 binds DNA, activates transcription, and coexpresses with type II collagen during chondrogenesis in the mouse. of outstanding interest Dev Biol. 183:1997;108-121 This paper provides an extensive study of Sox9 and type II collagen gene coexpression during mouse development. This paper also shows that Sox9 can bind and activate transcription through a consensus SOX/SRY element.
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Ng, L.J.1
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SOX9 is a potent activator of the chondrocyte-specific enhancer of the pro alpha1(II) collagen gene
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of outstanding interest. Identification of a Sox9 binding site in the first intron of the mouse type II collagen gene is reported here. In vitro and in vivo demonstration of the transcriptional activity of this element is also described
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Lefebvre V, Huang W, Harley VR, Goodfellow PN, de Crombrugghe B. SOX9 is a potent activator of the chondrocyte-specific enhancer of the pro alpha1(II) collagen gene. of outstanding interest Mol Cell Biol. 17:1997;2336-2346 Identification of a Sox9 binding site in the first intron of the mouse type II collagen gene is reported here. In vitro and in vivo demonstration of the transcriptional activity of this element is also described.
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Lefebvre, V.1
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of outstanding interest. This paper describes the in vitro characterization of a Sox9 binding site in the first intron of the mouse type II collagen gene. It also provides a demonstration in vivo that ectopic expression of Sox9 can transactivate type II collagen gene expression
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Bell DM, Leung KK, Wheatley SC, Ng LJ, Zhou S, Ling KW, Sham MH, Koopman P, Tam PP, Cheah KS. SOX9 directly regulates the type-II collagen gene. of outstanding interest Nat Genet. 16:1997;174-178 This paper describes the in vitro characterization of a Sox9 binding site in the first intron of the mouse type II collagen gene. It also provides a demonstration in vivo that ectopic expression of Sox9 can transactivate type II collagen gene expression.
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PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth
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Lanske B, Karaplis AC, Lee K, Luz A, Vortkamp A, Pirro A, Karperien M, Defize LHK, Ho C, Mulligan RC, et al. PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth. Science. 273:1996;663-666.
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MMP-9/Gelatinase B is a key regulator of growth plate angiogenesis and apoptosis of hypertrophic chomdrocytes
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of outstanding interest. Targeted inactivation of the Gelatinase B gene in mice is described in this paper. Homozygous mutants first exhibit delayed apoptosis of the hypertrophic chondrocytes, vascularization and ossification. In older animals these process take place aberrantly. Gelatinase B is shown to be synthesized by a novel cell type of bone marrow origin, the chondroclast
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Vu TH, Shipley JM, Bergers G, Berger JE, Helms JA, Hanahan D, Shapiro SD, Senior RM, Werb Z. MMP-9/Gelatinase B is a key regulator of growth plate angiogenesis and apoptosis of hypertrophic chomdrocytes. of outstanding interest Cell. 93:1998;411-422 Targeted inactivation of the Gelatinase B gene in mice is described in this paper. Homozygous mutants first exhibit delayed apoptosis of the hypertrophic chondrocytes, vascularization and ossification. In older animals these process take place aberrantly. Gelatinase B is shown to be synthesized by a novel cell type of bone marrow origin, the chondroclast.
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Cell
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Vu, T.H.1
Shipley, J.M.2
Bergers, G.3
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Hanahan, D.6
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The tissue-specific nuclear matrix protein, NMP-2, is a member of the AML/CBF/PEBP2/Runt domain transcription factor family: Interactions with the osteocalcin gene promoter
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Merriman HL, van Wijnen AJ, Hiebert S, Bidwell JP, Fey E, Lian J, Stein J, Stein GS. The tissue-specific nuclear matrix protein, NMP-2, is a member of the AML/CBF/PEBP2/Runt domain transcription factor family: interactions with the osteocalcin gene promoter. Biochemistry. 34:1995;13125-13132.
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Ito Y, Bae S-C. The runt domain transcription factor PEBP2/CBF, and its involvment in human leukemia. Yaniv M, Ghysdael J. Oncogenes as Transcriptional Regulators. 2:1997;107-132 Birkhauser Verlag, Basel.
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Bae S-C2
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Satake M, Nomura S, Yamagushi-Iwai Y, Takahama Y, Hashimoto Y, Niki M, Kitamura Y, Ito Y. Expression of the runt domain-encoding PEBP2a genes in T cells during thymic development. Mol Cell Biol. 15:1995;1662-1670.
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of outstanding interest. This paper reports the cloning of Osf2/Cbfa1 cDNA and provides molecular evidence that it acts as a transcriptional activator of osteoblast differentiation
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Ducy P, Zhang R, Geoffroy V, Ridall A, Karsenty G. Osf2/Cbfa1: a transcriptional activator of osteoblast differentiation. of outstanding interest Cell. 89:1997;747-754 This paper reports the cloning of Osf2/Cbfa1 cDNA and provides molecular evidence that it acts as a transcriptional activator of osteoblast differentiation.
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Cell
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Ducy, P.1
Zhang, R.2
Geoffroy, V.3
Ridall, A.4
Karsenty, G.5
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36
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Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development
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of outstanding interest. This paper shows the requirement of Cbfa1 for osteoblast differentiation during embryogenesis using targeted disruption of the Cbfa1 gene in mice. It also establishes the genetic link between Cbfa1 and the CCD phenotype in mice
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Otto F, Thornell AP, Crompton T, Denzel A, Gilmour KC, Rosewell IR, Stamp GWH, Beddington RSP, Mundlos S, Olsen BR, et al. Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development. of outstanding interest Cell. 89:1997;765-771 This paper shows the requirement of Cbfa1 for osteoblast differentiation during embryogenesis using targeted disruption of the Cbfa1 gene in mice. It also establishes the genetic link between Cbfa1 and the CCD phenotype in mice.
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(1997)
Cell
, vol.89
, pp. 765-771
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Otto, F.1
Thornell, A.P.2
Crompton, T.3
Denzel, A.4
Gilmour, K.C.5
Rosewell, I.R.6
Stamp, G.W.H.7
Beddington, R.S.P.8
Mundlos, S.9
Olsen, B.R.10
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37
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0030684749
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Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts
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of outstanding interest. This study shows the requirement of Cbfa1 for osteoblast differentiation and osteoblast-specific gene expression during embryogenesis using targeted disruption of the Cbfa1 gene in mice
-
Komori T, Yagi H, Nomura S, Yamaguchi A, Sasaki K, Deguchi K, Shimizu Y, Bronson RT, Gao Y-H, Inada M, et al. Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts. of outstanding interest Cell. 89:1997;755-764 This study shows the requirement of Cbfa1 for osteoblast differentiation and osteoblast-specific gene expression during embryogenesis using targeted disruption of the Cbfa1 gene in mice.
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Cell
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Komori, T.1
Yagi, H.2
Nomura, S.3
Yamaguchi, A.4
Sasaki, K.5
Deguchi, K.6
Shimizu, Y.7
Bronson, R.T.8
Gao Y-H9
Inada, M.10
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38
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15444351110
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Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia
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of outstanding interest. This paper is particularly important because it shows that cleidocranial dysplasia is caused by haploinsufficiency. It reports the characterization of deletions, stop codon and insertion mutations in the CBFA1 gene of cleidocranial dysplasia patients
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Mundlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, Albright S, Lindhout D, Cole WG, Henn W, Knoll JHM, et al. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. of outstanding interest Cell. 89:1997;773-779 This paper is particularly important because it shows that cleidocranial dysplasia is caused by haploinsufficiency. It reports the characterization of deletions, stop codon and insertion mutations in the CBFA1 gene of cleidocranial dysplasia patients.
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Cell
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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
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39
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0030927622
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Missense mutations abolishing DNA binding OSF2/CBFA1 in patients affected with cleidocranial dysplasia
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of outstanding interest. This paper reports the characterization of missense mutations in the DNA-binding domain encoding region of the CBFA1 gene in cleidocranial dysplasia patients
-
Lee B, Thirunavukkarasu K, Zhou L, Pastore L, Baldini A, Geoffroy V, Ducy P, Karsenty G. Missense mutations abolishing DNA binding OSF2/CBFA1 in patients affected with cleidocranial dysplasia. of outstanding interest Nat Genet. 16:1997;307-311 This paper reports the characterization of missense mutations in the DNA-binding domain encoding region of the CBFA1 gene in cleidocranial dysplasia patients.
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(1997)
Nat Genet
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, pp. 307-311
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Lee, B.1
Thirunavukkarasu, K.2
Zhou, L.3
Pastore, L.4
Baldini, A.5
Geoffroy, V.6
Ducy, P.7
Karsenty, G.8
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40
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0030933226
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Osteopetrosis in mice lacking haematopoietic transcription factor PU.1
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of outstanding interest. This paper reports the targeted inactivation of the PU.1 gene in mice. Homozygous PU.1 mutants present with severe osteopetrosis and lack both macrophages and osteoclasts
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Tondravi MM, McKercher SR, Anderson K, Erdmann JM, Quiroz M, Maki R, Teitelbaum SL. Osteopetrosis in mice lacking haematopoietic transcription factor PU.1. of outstanding interest Nature. 386:1997;81-84 This paper reports the targeted inactivation of the PU.1 gene in mice. Homozygous PU.1 mutants present with severe osteopetrosis and lack both macrophages and osteoclasts.
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Nature
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Tondravi, M.M.1
McKercher, S.R.2
Anderson, K.3
Erdmann, J.M.4
Quiroz, M.5
Maki, R.6
Teitelbaum, S.L.7
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41
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0025332897
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The murine mutation osteopetrosis is in the coding region of the macrophage colony stimulating factor gene
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Yoshida H, Hayashi S, Kunisada T, Ogawa M, Nishikawa S, Okamura H, Sudo T, Shultz LD, Nishikawa S. The murine mutation osteopetrosis is in the coding region of the macrophage colony stimulating factor gene. Nature. 345:1990;442-444.
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Nature
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Yoshida, H.1
Hayashi, S.2
Kunisada, T.3
Ogawa, M.4
Nishikawa, S.5
Okamura, H.6
Sudo, T.7
Shultz, L.D.8
Nishikawa, S.9
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42
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0031005576
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Osteoprotegerin: A novel secreted protein involved in the regulation of bone density
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of outstanding interest. Identification of osteoprogerin (OPG), a soluble factor related to the TNF receptor family, that blocks osteoclastogenesis in vitro is reported. Overexpression of OPG gene in mice leads to increased bone density
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Simonet WS, Lacey DL, Dunstan CR, Kelley M, Chang MS, Luthy R, Nguyen HQ, Wooden S, Bennett L, Boone T, et al. Osteoprotegerin: a novel secreted protein involved in the regulation of bone density. of outstanding interest Cell. 89:1997;309-319 Identification of osteoprogerin (OPG), a soluble factor related to the TNF receptor family, that blocks osteoclastogenesis in vitro is reported. Overexpression of OPG gene in mice leads to increased bone density.
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(1997)
Cell
, vol.89
, pp. 309-319
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Simonet, W.S.1
Lacey, D.L.2
Dunstan, C.R.3
Kelley, M.4
Chang, M.S.5
Luthy, R.6
Nguyen, H.Q.7
Wooden, S.8
Bennett, L.9
Boone, T.10
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43
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0032079445
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Osteoprotegerin-deficient mice develop early onset osteoporosis and arterial calcification
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of special interest. Targeted inactivation of the osteoprotegerin (OPG) gene in mice is described. Homozygous mutants of OPG show a severe decrease in bone density
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Bucay N, Sarosi I, Dunstan CR, Morony S, Tarpley J, Capparelli C, Scully S, Tan HL, Xu W, Lacey DL, et al. Osteoprotegerin-deficient mice develop early onset osteoporosis and arterial calcification. of special interest Genes Dev. 12:1998;1260-1268 Targeted inactivation of the osteoprotegerin (OPG) gene in mice is described. Homozygous mutants of OPG show a severe decrease in bone density.
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(1998)
Genes Dev
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Bucay, N.1
Sarosi, I.2
Dunstan, C.R.3
Morony, S.4
Tarpley, J.5
Capparelli, C.6
Scully, S.7
Tan, H.L.8
Xu, W.9
Lacey, D.L.10
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44
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0032540319
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Osteoprotegerin ligand is a cytokine that regulates osteoclast differentiation and activation
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of outstanding interest. Identification of the osteoprotegerin ligand (OPGL) is reported here. OPGL is related to the TNF receptor family but can exists as a transmembrane or soluble form. OPGL activates osteoclast maturation in vitro and enhances bone resorption in vivo
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Lacey DL, Timms E, Tan HL, Kelley MJ, Dunstan CR, Brugess T, Elliot R, Colombero A, Elliot G, Scully S, Hsu H, et al. Osteoprotegerin ligand is a cytokine that regulates osteoclast differentiation and activation. of outstanding interest Cell. 93:1998;165-176 Identification of the osteoprotegerin ligand (OPGL) is reported here. OPGL is related to the TNF receptor family but can exists as a transmembrane or soluble form. OPGL activates osteoclast maturation in vitro and enhances bone resorption in vivo.
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(1998)
Cell
, vol.93
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Lacey, D.L.1
Timms, E.2
Tan, H.L.3
Kelley, M.J.4
Dunstan, C.R.5
Brugess, T.6
Elliot, R.7
Colombero, A.8
Elliot, G.9
Scully, S.10
Hsu, H.11
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45
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0032584208
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Osteoclast differentiation factor is a ligand for osteoprotegerin/osteclastogenesis-inhibitory factor and is identical to TRANCE/RANKL
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of outstanding interest. This paper demonstrates purification and cloning of the osteoclast differentiation factor (ODF) gene. In vitro experiments show that ODF is the osteoprotegerin ligand and that it mediates osteoclast differentiation
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Yasuda H, Shima N, Nakagawa N, Yamaguchi K, Kinosaki M, Mochizuki S, Tomoyasu A, Yano K, Goto M, Murakami A, et al. Osteoclast differentiation factor is a ligand for osteoprotegerin/osteclastogenesis-inhibitory factor and is identical to TRANCE/RANKL. of outstanding interest Proc Natl Acad Sci USA. 95:1998;3597-35602 This paper demonstrates purification and cloning of the osteoclast differentiation factor (ODF) gene. In vitro experiments show that ODF is the osteoprotegerin ligand and that it mediates osteoclast differentiation.
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(1998)
Proc Natl Acad Sci USA
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Yasuda, H.1
Shima, N.2
Nakagawa, N.3
Yamaguchi, K.4
Kinosaki, M.5
Mochizuki, S.6
Tomoyasu, A.7
Yano, K.8
Goto, M.9
Murakami, A.10
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46
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0027070472
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Bone and haematopoietic defects in mice lacking c-fos
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Wang ZQ, Ovitt C, Grigoriadis AE, Mohle-Steinlein U, Ruther U, Wagner EF. Bone and haematopoietic defects in mice lacking c-fos. Nature. 360:1992;741-745.
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(1992)
Nature
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Wang, Z.Q.1
Ovitt, C.2
Grigoriadis, A.E.3
Mohle-Steinlein, U.4
Ruther, U.5
Wagner, E.F.6
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47
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0028173214
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C-Fos: A key regulator of osteoclast-macrophage lineage determination and bone remodeling
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Grigoriadis AE, Wang ZQ, Cecchini MG, Hofstetter W, Felix R, Fleisch HA, Wagner EF. c-Fos: a key regulator of osteoclast-macrophage lineage determination and bone remodeling. Science. 266:1994;443-448.
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(1994)
Science
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Grigoriadis, A.E.1
Wang, Z.Q.2
Cecchini, M.G.3
Hofstetter, W.4
Felix, R.5
Fleisch, H.A.6
Wagner, E.F.7
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48
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0026486816
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Pleiotropic effects of a null mutation in the c-fos proto-oncogene
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Johnson RS, Spiegelman BM, Papaioannou V. Pleiotropic effects of a null mutation in the c-fos proto-oncogene. Cell. 71:1992;577-586.
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Cell
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Johnson, R.S.1
Spiegelman, B.M.2
Papaioannou, V.3
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49
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15444357762
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Requirement for NF-kappa B in osteoclast and B-cell development
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of special interest. Simultaneous targeted inactivation of the genes encoding the p50 and p52 subunits of NFκB is described. Doubly homozygous mutants present severe osteopetrosis due to an absence of osteoclasts. B cells are also absent
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Franzoso G, Carlson L, Xing L, Poljak L, Shores EW, Brown KD, Leonardi A, Tran T, Boyce BF, Siebenlist U. Requirement for NF-kappa B in osteoclast and B-cell development. of special interest Genes Dev. 11:1997;3482-3496 Simultaneous targeted inactivation of the genes encoding the p50 and p52 subunits of NFκB is described. Doubly homozygous mutants present severe osteopetrosis due to an absence of osteoclasts. B cells are also absent.
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(1997)
Genes Dev
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Franzoso, G.1
Carlson, L.2
Xing, L.3
Poljak, L.4
Shores, E.W.5
Brown, K.D.6
Leonardi, A.7
Tran, T.8
Boyce, B.F.9
Siebenlist, U.10
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50
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0027204149
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Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein
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Hodgkinson CA, Moore KJ, Nakayama A, Steingrimsson E, Copeland NG, Jenkins NA, Arnheiter H. Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein. Cell. 74:1993;395-404.
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(1993)
Cell
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Hodgkinson, C.A.1
Moore, K.J.2
Nakayama, A.3
Steingrimsson, E.4
Copeland, N.G.5
Jenkins, N.A.6
Arnheiter, H.7
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