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Volumn 2, Issue 5-6, 2009, Pages 283-294

Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice

Author keywords

[No Author keywords available]

Indexed keywords

ANEMIA; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONGENITAL HEART MALFORMATION; FEMALE; GENE EXPRESSION; GENOTYPE; MALE; MOUSE; NONHUMAN; PRIORITY JOURNAL; SKELETON MALFORMATION; WOLF HIRSCHHORN SYNDROME; ALLELE; ANIMAL; ANIMAL EMBRYO; BONE; CONGENITAL MALFORMATION; FETUS; GENE EXPRESSION REGULATION; GENE TARGETING; GENETIC RECOMBINATION; GENETICS; HEART VALVE; HEART VENTRICLE SEPTUM; HOMOZYGOTE; METABOLISM; MOUSE MUTANT; NEWBORN; PATHOLOGY; PLACENTA; PRENATAL DEVELOPMENT; SEQUENCE HOMOLOGY; SEXUAL DEVELOPMENT;

EID: 67650323999     PISSN: 17548403     EISSN: 17548411     Source Type: Journal    
DOI: 10.1242/dmm.002287     Document Type: Article
Times cited : (69)

References (47)
  • 2
    • 36248966403 scopus 로고    scopus 로고
    • Mice with a targeted disruption of the Fgfrl1 gene die at birth due to alterations in the diaphragm
    • DOI 10.1111/j.1742-4658.2007.06143.x
    • Baertschi, S., Zhuang, L. and Trueb, B. (2007). Mice with a targeted disruption of the Fgfrl1 gene die at birth due to alterations in the diaphragm. FEBS J. 274, 6241-6253. (Pubitemid 350135342)
    • (2007) FEBS Journal , vol.274 , Issue.23 , pp. 6241-6253
    • Baertschi, S.1    Zhuang, L.2    Trueb, B.3
  • 5
    • 13944273804 scopus 로고    scopus 로고
    • The etiology of Wolf- Hirschhorn syndrome
    • Bergemann, A. D., Cole, F. and Hirschhorn, K. (2005). The etiology of Wolf- Hirschhorn syndrome. Trends Genet. 21, 188-195.
    • (2005) Trends Genet. , vol.21 , pp. 188-195
    • Bergemann, A.D.1    Cole, F.2    Hirschhorn, K.3
  • 6
    • 33747749123 scopus 로고    scopus 로고
    • Fgfrl1, a fibroblast growth factor receptor-like gene, is found in the cephalochordate Branchiostoma floridae but not in the urochordate Ciona intestinalis
    • DOI 10.1016/j.cbpb.2006.06.002, PII S1096495906001552
    • Beyeler, M. and Trueb, B. (2006). Fgfrl1, a fibroblast growth factor receptor-like gene, is found in the cephalochordate Branchiostoma floridae but not in the urochordate Ciona intestinalis. Comp. Biochem. Physiol. B 145, 43-49. (Pubitemid 44279482)
    • (2006) Comparative Biochemistry and Physiology - B Biochemistry and Molecular Biology , vol.145 , Issue.1 , pp. 43-49
    • Beyeler, M.1    Trueb, B.2
  • 7
    • 13444263240 scopus 로고    scopus 로고
    • Fibroblast growth factor signaling during early vertebrate development
    • DOI 10.1210/er.2003-0040
    • Bottcher, R. T. and Niehrs, C. (2005). Fibroblast growth factor signaling during early vertebrate development. Endocr. Rev. 26, 63-77. (Pubitemid 40209387)
    • (2005) Endocrine Reviews , vol.26 , Issue.1 , pp. 63-77
    • Bottcher, R.T.1    Niehrs, C.2
  • 9
    • 0029928791 scopus 로고    scopus 로고
    • Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3
    • Colvin, J. S., Bohne, B. A., Harding, G. W., McEwen, D. G. and Ornitz, D. M. (1996). Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3. Nat. Genet. 12, 390-397.
    • (1996) Nat. Genet. , vol.12 , pp. 390-397
    • Colvin, J.S.1    Bohne, B.A.2    Harding, G.W.3    McEwen, D.G.4    Ornitz, D.M.5
  • 12
    • 57649222032 scopus 로고    scopus 로고
    • Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions
    • Engbers, H., van der Smagt, J. J., van't Slot, R., Vermeesch, J. R., Hochstenbach, R. and Poot, M. (2009). Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions. Eur. J. Hum. Genet. 17, 129-132.
    • (2009) Eur. J. Hum. Genet. , vol.17 , pp. 129-132
    • Engbers, H.1    Van Der Smagt, J.J.2    Van't Slot, R.3    Vermeesch, J.R.4    Hochstenbach, R.5    Poot, M.6
  • 14
    • 33751397761 scopus 로고    scopus 로고
    • An essential role for zebrafish Fgfrl1 during gill cartilage development
    • DOI 10.1016/j.mod.2006.08.006, PII S0925477306001377
    • Hall, C., Flores, M. V., Murison, G., Crosier, K. and Crosier, P. (2006). An essential role for zebrafish Fgfrl1 during gill cartilage development. Mech. Dev. 123, 925-940. (Pubitemid 44820822)
    • (2006) Mechanisms of Development , vol.123 , Issue.12 , pp. 925-940
    • Hall, C.1    Flores, M.V.2    Murison, G.3    Crosier, K.4    Crosier, P.5
  • 15
    • 3342955509 scopus 로고    scopus 로고
    • Expression patterns of Xenopus FGF receptor-like 1/nou-darake in early Xenopus development resemble those of planarian nou-darake and Xenopus FGF8
    • DOI 10.1002/dvdy.20040
    • Hayashi, S., Itoh, M., Taira, S., Agata, K. and Taira, M. (2004). Expression patterns of Xenopus FGF receptor-like 1/nou-darake in early Xenopus development resemble those of planarian nou-darake and Xenopus FGF8. Dev. Dyn. 230, 700-707. (Pubitemid 38993869)
    • (2004) Developmental Dynamics , vol.230 , Issue.4 , pp. 700-707
    • Hayashi, S.1    Itoh, M.2    Taira, S.3    Agata, K.4    Taira, M.5
  • 17
    • 0038687536 scopus 로고    scopus 로고
    • Developmental regulation of the growth plate
    • Kronenberg, H. M. (2003). Developmental regulation of the growth plate. Nature 423, 332-336.
    • (2003) Nature , vol.423 , pp. 332-336
    • Kronenberg, H.M.1
  • 18
    • 33846566729 scopus 로고    scopus 로고
    • Fibroblast growth factor expression in the postnatal growth plate
    • DOI 10.1016/j.bone.2006.10.013, PII S8756328206007897
    • Lazarus, J. E., Hegde, A., Andrade, A. C., Nilsson, O. and Baron, J. (2007). Fibroblast growth factor expression in the postnatal growth plate. Bone 40, 577-586. (Pubitemid 46187233)
    • (2007) Bone , vol.40 , Issue.3 , pp. 577-586
    • Lazarus, J.E.1    Hegde, A.2    Andrade, A.C.3    Nilsson, O.4    Baron, J.5
  • 19
    • 0032433267 scopus 로고    scopus 로고
    • Strain-dependent embryonic lethality in mice lacking the retinoblastoma-related p130 gene
    • LeCouter, J. E., Kablar, B., Whyte, P. F., Ying, C. and Rudnicki, M. A. (1998). Strain-dependent embryonic lethality in mice lacking the retinoblastoma-related p130 gene. Development 125, 4669-4679. (Pubitemid 29027197)
    • (1998) Development , vol.125 , Issue.23 , pp. 4669-4679
    • Lecouter, J.E.1    Kablar, B.2    Whyte, P.F.M.3    Rudnicki, C.Y.M.A.4
  • 22
    • 1042289662 scopus 로고    scopus 로고
    • Constitutive activation of MEK1 in chondrocytes causes Stat1-independent achondroplasia-like dwarfism and rescues the Fgfr3-deficient mouse phenotype
    • DOI 10.1101/gad.1179104
    • Murakami, S., Balmes, G., McKinney, S., Zhang, Z., Givol, D. and de Crombrugghe, B. (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. (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
  • 23
    • 0035252080 scopus 로고    scopus 로고
    • Molecular phylogenetics and the origins of placental mammals
    • DOI 10.1038/35054550
    • Murphy, W. J., Eizirik, E., Johnson, W. E., Zhang, Y. P., Ryder, O. A. and O'Brien, S. J. (2001). Molecular phylogenetics and the origins of placental mammals. Nature 409, 614-618. (Pubitemid 32154812)
    • (2001) Nature , vol.409 , Issue.6820 , pp. 614-618
    • Murphy, W.J.1    Eizirik, E.2    Johnson, W.E.3    Zhang, Y.P.4    Ryder, O.A.5    O'Brien, S.J.6
  • 25
    • 0032413011 scopus 로고    scopus 로고
    • Repression of hedgehog signaling and BMP4 expression in growth plate cartilage by fibroblast growth factor receptor 3
    • Naski, M. C., Colvin, J. S., Coffin, J. D. and Ornitz, D. M. (1998). Repression of hedgehog signaling and BMP4 expression in growth plate cartilage by fibroblast growth factor receptor 3. Development 125, 4977-4988.
    • (1998) Development , vol.125 , pp. 4977-4988
    • Naski, M.C.1    Colvin, J.S.2    Coffin, J.D.3    Ornitz, D.M.4
  • 26
    • 28444476207 scopus 로고    scopus 로고
    • Relations and interactions between cranial mesoderm and neural crest populations
    • Noden, D. M. and Trainor, P. A. (2005). Relations and interactions between cranial mesoderm and neural crest populations. J. Anat. 207, 575-601.
    • (2005) J. Anat. , vol.207 , pp. 575-601
    • Noden, D.M.1    Trainor, P.A.2
  • 27
    • 39449129323 scopus 로고    scopus 로고
    • The cell surface receptor FGFRL1 forms constitutive dimers that promote cell adhesion
    • DOI 10.1016/j.yexcr.2007.10.029, PII S0014482707005113
    • Rieckmann, T., Kotevic, I. and Trueb, B. (2008). The cell surface receptor FGFRL1 forms constitutive dimers that promote cell adhesion. Exp. Cell Res. 314, 1071-1081. (Pubitemid 351273200)
    • (2008) Experimental Cell Research , vol.314 , Issue.5 , pp. 1071-1081
    • Rieckmann, T.1    Kotevic, I.2    Trueb, B.3
  • 28
    • 58549083341 scopus 로고    scopus 로고
    • Characterization of the first FGFRL1 mutation identified in a craniosynostosis patient
    • Rieckmann, T., Zhuang, L., Flück, C. E. and Trueb, B. (2009). Characterization of the first FGFRL1 mutation identified in a craniosynostosis patient. Biochim. Biophys. Acta 1792, 112-121.
    • (2009) Biochim. Biophys. Acta , vol.1792 , pp. 112-121
    • Rieckmann, T.1    Zhuang, L.2    Flück, C.E.3    Trueb, B.4
  • 30
    • 0029566108 scopus 로고
    • A cre-transgenic mouse strain for the ubiquitous deletion of loxP-flanked gene segments including deletion in germ cells
    • Schwenk, F., Baron, U. and Rajewsky, K. (1995). A cre-transgenic mouse strain for the ubiquitous deletion of loxP-flanked gene segments including deletion in germ cells. Nucleic Acids Res. 23, 5080-5081. (Pubitemid 26012492)
    • (1995) Nucleic Acids Research , vol.23 , Issue.24 , pp. 5080-5081
    • Schwenk, F.1    Baron, U.2    Rajewsky, K.3
  • 32
    • 0027964261 scopus 로고
    • Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
    • DOI 10.1016/0092-8674(94)90302-6
    • Shiang, R., Thompson, L. M., Zhu, Y. Z., Church, D. M., Fielder, T. J., Bocian, M., Winokur, S. T. and Wasmuth, J. J. (1994). Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 78, 335-342. (Pubitemid 24241100)
    • (1994) Cell , vol.78 , Issue.2 , pp. 335-342
    • Shiang, R.1    Thompson, L.M.2    Zhu, Y.-Z.3    Church, D.M.4    Fielder, T.J.5    Bocian, M.6    Winokur, S.T.7    Wasmuth, J.J.8
  • 33
    • 0035958277 scopus 로고    scopus 로고
    • Identification of a new fibroblast growth factor receptor, FGFR5
    • DOI 10.1016/S0378-1119(01)00518-2, PII S0378111901005182
    • Sleeman, M., Fraser, J., McDonald, M., Yuan, S., White, D., Grandison, P., Kumble, K., Watson, J. D. and Murison, J. G. (2001). Identification of a new fibroblast growth factor receptor, FGFR5. Gene 271, 171-182. (Pubitemid 32545394)
    • (2001) Gene , vol.271 , Issue.2 , pp. 171-182
    • Sleeman, M.1    Fraser, J.2    McDonald, M.3    Yuan, S.4    White, D.5    Grandison, P.6    Kumble, K.7    Watson, J.D.8    Murison, J.G.9
  • 34
    • 55949096849 scopus 로고    scopus 로고
    • Pathogenic significance of deletions distal to the currently discribed Wolf-Hirschhorn syndrome critical regions on 4p16.3
    • South, S. T., Hannes, F., Fish, G. S., Vermeesch, J. R. and Zollino, M. (2008). Pathogenic significance of deletions distal to the currently discribed Wolf-Hirschhorn syndrome critical regions on 4p16.3. Am. J. Med. Genet. C Semin. Med. Genet. 148C, 275-280.
    • (2008) Am. J. Med. Genet. C Semin. Med. Genet. , vol.148 C , pp. 275-280
    • South, S.T.1    Hannes, F.2    Fish, G.S.3    Vermeesch, J.R.4    Zollino, M.5
  • 36
    • 0038545609 scopus 로고    scopus 로고
    • Fibroblast growth factor (FGF)-4 can induce proliferation of cardiac cushion mesenchymal cells during early valve leaflet formation
    • DOI 10.1016/S0012-1606(03)00099-X
    • Sugi, Y., Ito, N., Szebenyi, G., Myers, K., Fallon, J. F., Mikawa, T. and Markwald, R. R. (2003). Fibroblast growth factor (FGF)-4 can induce proliferation of cardiac cushion mesenchymal cells during early valve leaflet formation. Dev. Biol. 258, 252-263. (Pubitemid 36683129)
    • (2003) Developmental Biology , vol.258 , Issue.2 , pp. 252-263
    • Sugi, Y.1    Ito, N.2    Szebenyi, G.3    Myers, K.4    Fallon, J.F.5    Mikawa, T.6    Markwald, R.R.7
  • 37
    • 33845655378 scopus 로고    scopus 로고
    • Strain-dependent perinatal lethality of Ovol1-deficient mice and identification of Ovol2 as a downstream target of Ovol1 in skin epidermis
    • DOI 10.1016/j.bbadis.2006.08.012, PII S0925443906001669
    • Teng, A., Nair, M., Wells, J., Segre, J. A. and Dai, X. (2007). Strain-dependent perinatal lethality of Ovol1-deficient mice and identification of Ovol2 as a downstream target of Ovol1 in skin epidermis. Biochim. Biophys. Acta 1772, 89-95. (Pubitemid 44960722)
    • (2007) Biochimica et Biophysica Acta - Molecular Basis of Disease , vol.1772 , Issue.1 , pp. 89-95
    • Teng, A.1    Nair, M.2    Wells, J.3    Segre, J.A.4    Dai, X.5
  • 39
    • 27744534898 scopus 로고    scopus 로고
    • Functions and regulations of fibroblast growth factor signaling during embryonic development
    • DOI 10.1016/j.ydbio.2005.09.011, PII S0012160605006184
    • Thisse, B. and Thisse, C. (2005). Functions and regulations of fibroblast growth factor signaling during embryonic development. Dev. Biol. 287, 390-402. (Pubitemid 41636772)
    • (2005) Developmental Biology , vol.287 , Issue.2 , pp. 390-402
    • Thisse, B.1    Thisse, C.2
  • 40
    • 33746672087 scopus 로고    scopus 로고
    • Expression of FGFRL1, a novel fibroblast growth factor receptor, during embryonic development
    • Trueb, B. and Taeschler, S. (2006). Expression of FGFRL1, a novel fibroblast growth factor receptor, during embryonic development. Int. J. Mol. Med. 17, 617-620.
    • (2006) Int. J. Mol. Med. , vol.17 , pp. 617-620
    • Trueb, B.1    Taeschler, S.2
  • 41
    • 0141557544 scopus 로고    scopus 로고
    • Characterization of FGFRL1, a Novel Fibroblast Growth Factor (FGF) Receptor Preferentially Expressed in Skeletal Tissues
    • DOI 10.1074/jbc.M300281200
    • Trueb, B., Zhuang, L., Taeschler, S. and Wiedemann, M. (2003). Characterization of FGFRL1, a novel fibroblast growth factor (FGF) receptor preferentially expressed in skeletal tissues. J. Biol. Chem. 278, 33857-33865. (Pubitemid 37553220)
    • (2003) Journal of Biological Chemistry , vol.278 , Issue.36 , pp. 33857-33865
    • Trueb, B.1    Zhuang, L.2    Taeschler, S.3    Wiedemann, M.4
  • 44
    • 0344740955 scopus 로고    scopus 로고
    • Fgf signalling is required for formation of cartilage in the head
    • DOI 10.1016/j.ydbio.2003.08.010
    • Walshe, J. and Mason, I. (2003). Fgf signalling is required for formation of cartilage in the head. Dev. Biol. 264, 522-536. (Pubitemid 37492973)
    • (2003) Developmental Biology , vol.264 , Issue.2 , pp. 522-536
    • Walshe, J.1    Mason, I.2
  • 45
    • 0034667330 scopus 로고    scopus 로고
    • Characterization of a novel protein (FGFRL1) from human cartilage related to FGF receptors
    • DOI 10.1006/geno.2000.6332
    • Wiedemann, M. and Trueb, B. (2000). Characterization of a novel protein (FGFRL1) from human cartilage related to FGF receptors. Genomics 69, 275-279. (Pubitemid 30815828)
    • (2000) Genomics , vol.69 , Issue.2 , pp. 275-279
    • Wiedemann, M.1    Trueb, B.2
  • 46
    • 0035929378 scopus 로고    scopus 로고
    • The mouse Fgfrl1 gene coding for a novel FGF receptor-like protein
    • DOI 10.1016/S0167-4781(01)00267-6, PII S0167478101002676
    • Wiedemann, M. and Trueb, B. (2001). The mouse Fgfrl1 gene coding for a novel FGF receptor-like protein. Biochim. Biophys. Acta 1520, 247-250. (Pubitemid 32868796)
    • (2001) Biochimica et Biophysica Acta - Gene Structure and Expression , vol.1520 , Issue.3 , pp. 247-250
    • Wiedemann, M.1    Trueb, B.2
  • 47
    • 0344826470 scopus 로고    scopus 로고
    • Role of Ras signaling in erythroid differentiation of mouse fetal liver cells: Functional analysis by a flow cytometry-based novel culture system
    • DOI 10.1182/blood-2003-05-1479
    • Zhang, J., Socolovsky, M., Gross, A. W. and Lodish, H. F. (2003). Role of Ras signaling in erythroid differentiation of mouse fetal liver cells: functional analysis by a flow cytometry-based novel culture system. Blood 102, 3938-3946. (Pubitemid 37486974)
    • (2003) Blood , vol.102 , Issue.12 , pp. 3938-3946
    • Zhang, J.1    Socolovsky, M.2    Gross, A.W.3    Lodish, H.F.4


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