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Volumn 49, Issue 4, 2011, Pages 209-221

Podosomal proteins as causes of human syndromes: A role in craniofacial development?

Author keywords

Actin binding protein; Matrix degradation; Migration

Indexed keywords

ALPHA ACTININ 4; FILAMIN A; INVADOPODIA; PODOSOME PROTEIN; PROTEIN; UNCLASSIFIED DRUG; WISKOTT ALDRICH SYNDROME PROTEIN;

EID: 79954578702     PISSN: 1526954X     EISSN: 1526968X     Source Type: Journal    
DOI: 10.1002/dvg.20732     Document Type: Review
Times cited : (11)

References (120)
  • 1
    • 0014875340 scopus 로고
    • A familial syndrome of short stature associated with facial dysplasia and genital anomalies
    • Aarskog D. 1970. A familial syndrome of short stature associated with facial dysplasia and genital anomalies. J Pediatr 77: 856-861.
    • (1970) J Pediatr , vol.77 , pp. 856-861
    • Aarskog, D.1
  • 2
    • 67650996280 scopus 로고    scopus 로고
    • Epithelial-mesenchymal transitions: the importance of changing cell state in development and disease
    • Acloque H, Adams MS, Fishwick K, Bronner-Fraser M, Nieto MA. 2009. Epithelial-mesenchymal transitions: the importance of changing cell state in development and disease. J Clin Invest 119: 1438-1449.
    • (2009) J Clin Invest , vol.119 , pp. 1438-1449
    • Acloque, H.1    Adams, M.S.2    Fishwick, K.3    Bronner-Fraser, M.4    Nieto, M.A.5
  • 3
    • 58149240485 scopus 로고    scopus 로고
    • Specialized podosome- or invadopodia-like structures (PILS) for focal trabecular meshwork extracellular matrix turnover
    • Aga M, Bradley JM, Keller KE, Kelley MJ, Acott TS. 2008. Specialized podosome- or invadopodia-like structures (PILS) for focal trabecular meshwork extracellular matrix turnover. Invest Ophthalmol Vis Sci 49: 5353-5365.
    • (2008) Invest Ophthalmol Vis Sci , vol.49 , pp. 5353-5365
    • Aga, M.1    Bradley, J.M.2    Keller, K.E.3    Kelley, M.J.4    Acott, T.S.5
  • 4
    • 0001102239 scopus 로고
    • Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea
    • Aldrich RA, Steinberg AG, Campbell DC. 1954. Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics 13: 133-139.
    • (1954) Pediatrics , vol.13 , pp. 133-139
    • Aldrich, R.A.1    Steinberg, A.G.2    Campbell, D.C.3
  • 5
    • 59149101254 scopus 로고    scopus 로고
    • Faciogenital dysplasia protein Fgd1 regulates invadopodia biogenesis and extracellular matrix degradation and is up-regulated in prostate and breast cancer
    • Ayala I, Giacchetti G, Caldieri G, Attanasio F, Mariggio S, Tete S, Polishchuk R, Castronovo V, Buccione R. 2009. Faciogenital dysplasia protein Fgd1 regulates invadopodia biogenesis and extracellular matrix degradation and is up-regulated in prostate and breast cancer. Cancer Res 69: 747-752.
    • (2009) Cancer Res , vol.69 , pp. 747-752
    • Ayala, I.1    Giacchetti, G.2    Caldieri, G.3    Attanasio, F.4    Mariggio, S.5    Tete, S.6    Polishchuk, R.7    Castronovo, V.8    Buccione, R.9
  • 6
    • 67650607182 scopus 로고    scopus 로고
    • First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome
    • Bedoyan JK, Friez MJ, DuPont B, Ahmad A. 2009. First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome. Eur J Med Genet 52: 262-264.
    • (2009) Eur J Med Genet , vol.52 , pp. 262-264
    • Bedoyan, J.K.1    Friez, M.J.2    DuPont, B.3    Ahmad, A.4
  • 7
    • 13444256235 scopus 로고    scopus 로고
    • FOXC1 transcriptional regulatory activity is impaired by PBX1 in a filamin A-mediated manner
    • Berry FB, O'Neill MA, Coca-Prados M, Walter MA. 2005. FOXC1 transcriptional regulatory activity is impaired by PBX1 in a filamin A-mediated manner. Mol Cell Biol 25: 1415-1424.
    • (2005) Mol Cell Biol , vol.25 , pp. 1415-1424
    • Berry, F.B.1    O'Neill, M.A.2    Coca-Prados, M.3    Walter, M.A.4
  • 9
    • 42549114241 scopus 로고    scopus 로고
    • Improvement of migratory defects in a murine model of Wiskott-Aldrich syndrome gene therapy
    • Blundell MP, Bouma G, Calle Y, Jones GE, Kinnon C, Thrasher AJ. 2008. Improvement of migratory defects in a murine model of Wiskott-Aldrich syndrome gene therapy. Mol Ther 16: 836-844.
    • (2008) Mol Ther , vol.16 , pp. 836-844
    • Blundell, M.P.1    Bouma, G.2    Calle, Y.3    Jones, G.E.4    Kinnon, C.5    Thrasher, A.J.6
  • 10
    • 0035883040 scopus 로고    scopus 로고
    • Configuration of human dendritic cell cytoskeleton by Rho GTPases, the WAS protein, and differentiation
    • Burns S, Thrasher AJ, Blundell MP, Machesky L, Jones GE. 2001. Configuration of human dendritic cell cytoskeleton by Rho GTPases, the WAS protein, and differentiation. Blood 98: 1142-1149.
    • (2001) Blood , vol.98 , pp. 1142-1149
    • Burns, S.1    Thrasher, A.J.2    Blundell, M.P.3    Machesky, L.4    Jones, G.E.5
  • 14
    • 50649093112 scopus 로고    scopus 로고
    • WASP and WIP regulate podosomes in migrating leukocytes
    • Calle Y, Anton IM, Thrasher AJ, Jones GE. 2008. WASP and WIP regulate podosomes in migrating leukocytes. J Microsc 231: 494-505.
    • (2008) J Microsc , vol.231 , pp. 494-505
    • Calle, Y.1    Anton, I.M.2    Thrasher, A.J.3    Jones, G.E.4
  • 15
    • 33745482350 scopus 로고    scopus 로고
    • Inhibition of calpain stabilises podosomes and impairs dendritic cell motility
    • Calle Y, Carragher NO, Thrasher AJ, Jones GE. 2006. Inhibition of calpain stabilises podosomes and impairs dendritic cell motility. J Cell Sci 119: 2375-2385.
    • (2006) J Cell Sci , vol.119 , pp. 2375-2385
    • Calle, Y.1    Carragher, N.O.2    Thrasher, A.J.3    Jones, G.E.4
  • 16
    • 7944238828 scopus 로고    scopus 로고
    • Wiskott-Aldrich syndrome protein and the cytoskeletal dynamics of dendritic cells
    • Calle Y, Chou HC, Thrasher AJ, Jones GE. 2004a. Wiskott-Aldrich syndrome protein and the cytoskeletal dynamics of dendritic cells. J Pathol 204: 460-469.
    • (2004) J Pathol , vol.204 , pp. 460-469
    • Calle, Y.1    Chou, H.C.2    Thrasher, A.J.3    Jones, G.E.4
  • 17
    • 1942456777 scopus 로고    scopus 로고
    • WASp deficiency in mice results in failure to form osteoclast sealing zones and defects in bone resorption
    • Calle Y, Jones GE, Jagger C, Fuller K, Blundell MP, Chow J, Chambers T, Thrasher AJ. 2004b. WASp deficiency in mice results in failure to form osteoclast sealing zones and defects in bone resorption. Blood 103: 3552-3561.
    • (2004) Blood , vol.103 , pp. 3552-3561
    • Calle, Y.1    Jones, G.E.2    Jagger, C.3    Fuller, K.4    Blundell, M.P.5    Chow, J.6    Chambers, T.7    Thrasher, A.J.8
  • 19
    • 33748296370 scopus 로고    scopus 로고
    • Recent advances in craniofacial morphogenesis
    • Chai Y, Maxson REJr. 2006. Recent advances in craniofacial morphogenesis. Dev Dyn 235: 2353-2375.
    • (2006) Dev Dyn , vol.235 , pp. 2353-2375
    • Chai, Y.1    Maxson Jr, R.E.2
  • 20
    • 0024414571 scopus 로고
    • Proteolytic activity of specialized surface protrusions formed at rosette contact sites of transformed cells
    • Chen WT. 1989. Proteolytic activity of specialized surface protrusions formed at rosette contact sites of transformed cells. J Exp Zool 251: 167-185.
    • (1989) J Exp Zool , vol.251 , pp. 167-185
    • Chen, W.T.1
  • 21
    • 70450161225 scopus 로고    scopus 로고
    • Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders
    • Clark AR, Sawyer GM, Robertson SP, Sutherland-Smith AJ. 2009. Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders. Hum Mol Genet 18: 4791-4800.
    • (2009) Hum Mol Genet , vol.18 , pp. 4791-4800
    • Clark, A.R.1    Sawyer, G.M.2    Robertson, S.P.3    Sutherland-Smith, A.J.4
  • 24
    • 0019294081 scopus 로고
    • Altered distributions of the cytoskeletal proteins vinculin and alpha-actinin in cultured fibroblasts transformed by Rous sarcoma virus
    • David-Pfeuty T, Singer SJ. 1980. Altered distributions of the cytoskeletal proteins vinculin and alpha-actinin in cultured fibroblasts transformed by Rous sarcoma virus. Proc Natl Acad Sci USA 77: 6687-6691.
    • (1980) Proc Natl Acad Sci USA , vol.77 , pp. 6687-6691
    • David-Pfeuty, T.1    Singer, S.J.2
  • 25
    • 0024299114 scopus 로고
    • alpha-Actinins and the DMD protein contain spectrin-like repeats
    • Davison MD, Critchley DR. 1988. alpha-Actinins and the DMD protein contain spectrin-like repeats. Cell 52: 159-160.
    • (1988) Cell , vol.52 , pp. 159-160
    • Davison, M.D.1    Critchley, D.R.2
  • 26
    • 0027937223 scopus 로고
    • Isolation of a novel gene mutated in Wiskott-Aldrich syndrome
    • Derry JM, Ochs HD, Francke U. 1994. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 78: 635-644.
    • (1994) Cell , vol.78 , pp. 635-644
    • Derry, J.M.1    Ochs, H.D.2    Francke, U.3
  • 28
    • 70450236976 scopus 로고    scopus 로고
    • Regulation of podosome dynamics by WASp phosphorylation: Implication in matrix degradation and chemotaxis in macrophages
    • Dovas A, Gevrey JC, Grossi A, Park H, Abou-Kheir W, Cox D. 2009. Regulation of podosome dynamics by WASp phosphorylation: Implication in matrix degradation and chemotaxis in macrophages. J Cell Sci 122: 3873-3882.
    • (2009) J Cell Sci , vol.122 , pp. 3873-3882
    • Dovas, A.1    Gevrey, J.C.2    Grossi, A.3    Park, H.4    Abou-Kheir, W.5    Cox, D.6
  • 29
    • 0014056642 scopus 로고
    • The oto-palato-digital syndrome. A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia
    • Dudding BA, Gorlin RJ, Langer LO. 1967. The oto-palato-digital syndrome. A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia. Am J Dis Child 113: 214-221.
    • (1967) Am J Dis Child , vol.113 , pp. 214-221
    • Dudding, B.A.1    Gorlin, R.J.2    Langer, L.O.3
  • 30
    • 0035117775 scopus 로고    scopus 로고
    • Dynamics of alpha-actinin in focal adhesions and stress fibers visualized with alpha-actinin-green fluorescent protein
    • Edlund M, Lotano MA, Otey CA. 2001. Dynamics of alpha-actinin in focal adhesions and stress fibers visualized with alpha-actinin-green fluorescent protein. Cell Motil Cytoskeleton 48: 190-200.
    • (2001) Cell Motil Cytoskeleton , vol.48 , pp. 190-200
    • Edlund, M.1    Lotano, M.A.2    Otey, C.A.3
  • 33
    • 0035282910 scopus 로고    scopus 로고
    • Fgd1, the Cdc42 guanine nucleotide exchange factor responsible for faciogenital dysplasia, is localized to the subcortical actin cytoskeleton and Golgi membrane
    • Estrada L, Caron E, Gorski JL. 2001. Fgd1, the Cdc42 guanine nucleotide exchange factor responsible for faciogenital dysplasia, is localized to the subcortical actin cytoskeleton and Golgi membrane. Hum Mol Genet 10: 485-495.
    • (2001) Hum Mol Genet , vol.10 , pp. 485-495
    • Estrada, L.1    Caron, E.2    Gorski, J.L.3
  • 35
    • 0020584032 scopus 로고
    • The oto-palato-digital syndrome, proposed type II
    • Fitch N, Jequier S, Gorlin R. 1983. The oto-palato-digital syndrome, proposed type II. Am J Med Genet 15: 655-664.
    • (1983) Am J Med Genet , vol.15 , pp. 655-664
    • Fitch, N.1    Jequier, S.2    Gorlin, R.3
  • 36
    • 0017083390 scopus 로고
    • A familial syndrome of cranial, facial, oral and limb anomalies
    • Fitch N, Jequier S, Papageorgiou A. 1976. A familial syndrome of cranial, facial, oral and limb anomalies. Clin Genet 10: 226-231.
    • (1976) Clin Genet , vol.10 , pp. 226-231
    • Fitch, N.1    Jequier, S.2    Papageorgiou, A.3
  • 37
    • 0020461395 scopus 로고
    • Fronto-metaphyseal dysplasia. Further delineation of the clinical syndrome
    • Fitzsimmons JS, Fitzsimmons EM, Barrow M, Gilbert GB. 1982. Fronto-metaphyseal dysplasia. Further delineation of the clinical syndrome. Clin Genet 22: 195-205.
    • (1982) Clin Genet , vol.22 , pp. 195-205
    • Fitzsimmons, J.S.1    Fitzsimmons, E.M.2    Barrow, M.3    Gilbert, G.B.4
  • 40
    • 0034441863 scopus 로고    scopus 로고
    • Remodeling of the actin cytoskeleton in the contracting A7r5 smooth muscle cell
    • Fultz ME, Li C, Geng W, Wright GL. 2000. Remodeling of the actin cytoskeleton in the contracting A7r5 smooth muscle cell. J Muscle Res Cell Motil 21: 775-787.
    • (2000) J Muscle Res Cell Motil , vol.21 , pp. 775-787
    • Fultz, M.E.1    Li, C.2    Geng, W.3    Wright, G.L.4
  • 43
    • 0038308424 scopus 로고    scopus 로고
    • Calponin repeats regulate actin filament stability and formation of podosomes in smooth muscle cells
    • Gimona M, Kaverina I, Resch GP, Vignal E, Burgstaller G. 2003. Calponin repeats regulate actin filament stability and formation of podosomes in smooth muscle cells. Mol Biol Cell 14: 2482-2491.
    • (2003) Mol Biol Cell , vol.14 , pp. 2482-2491
    • Gimona, M.1    Kaverina, I.2    Resch, G.P.3    Vignal, E.4    Burgstaller, G.5
  • 44
    • 0029061195 scopus 로고
    • Frontometaphyseal dysplasia: Neonatal radiographic diagnosis
    • Glass RB, Rosenbaum KN. 1995. Frontometaphyseal dysplasia: Neonatal radiographic diagnosis. Am J Med Genet 57: 1-5.
    • (1995) Am J Med Genet , vol.57 , pp. 1-5
    • Glass, R.B.1    Rosenbaum, K.N.2
  • 45
    • 0014572153 scopus 로고
    • Frontometaphyseal dysplasia. A new syndrome
    • Gorlin RJ, Cohen MMJr. 1969. Frontometaphyseal dysplasia. A new syndrome. Am J Dis Child 118: 487-494.
    • (1969) Am J Dis Child , vol.118 , pp. 487-494
    • Gorlin, R.J.1    Cohen Jr, M.M.2
  • 47
    • 0018936191 scopus 로고
    • Frontometaphyseal dysplasia-Evidence for X-linked inheritance
    • Gorlin RJ, Winter RB. 1980. Frontometaphyseal dysplasia-Evidence for X-linked inheritance. Am J Med Genet 5: 81-84.
    • (1980) Am J Med Genet , vol.5 , pp. 81-84
    • Gorlin, R.J.1    Winter, R.B.2
  • 48
    • 0033862724 scopus 로고    scopus 로고
    • Skeletal-specific expression of Fgd1 during bone formation and skeletal defects in faciogenital dysplasia (FGDY; Aarskog syndrome)
    • Gorski JL, Estrada L, Hu C, Liu Z. 2000. Skeletal-specific expression of Fgd1 during bone formation and skeletal defects in faciogenital dysplasia (FGDY; Aarskog syndrome). Dev Dyn 218: 573-586.
    • (2000) Dev Dyn , vol.218 , pp. 573-586
    • Gorski, J.L.1    Estrada, L.2    Hu, C.3    Liu, Z.4
  • 49
    • 0028932497 scopus 로고
    • Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report
    • Hamel BC, Draaisma JM, Pinckers AJ, Boetes C, Hoppe RL, Ropers HH, Brunner HG. 1995. Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report. Am J Med Genet 56: 312-316.
    • (1995) Am J Med Genet , vol.56 , pp. 312-316
    • Hamel, B.C.1    Draaisma, J.M.2    Pinckers, A.J.3    Boetes, C.4    Hoppe, R.L.5    Ropers, H.H.6    Brunner, H.G.7
  • 51
    • 0016787774 scopus 로고
    • Isolation and properties of actin, myosin, and a new actinbinding protein in rabbit alveolar macrophages
    • Hartwig JH, Stossel TP. 1975. Isolation and properties of actin, myosin, and a new actinbinding protein in rabbit alveolar macrophages. J Biol Chem 250: 5696-5705.
    • (1975) J Biol Chem , vol.250 , pp. 5696-5705
    • Hartwig, J.H.1    Stossel, T.P.2
  • 52
    • 22044435648 scopus 로고    scopus 로고
    • A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation
    • Hidalgo-Bravo A, Pompa-Mera EN, Kofman-Alfaro S, Gonzalez-Bonilla CR, Zenteno JC. 2005. A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation. Am J Med Genet A 136: 190-193.
    • (2005) Am J Med Genet A , vol.136 , pp. 190-193
    • Hidalgo-Bravo, A.1    Pompa-Mera, E.N.2    Kofman-Alfaro, S.3    Gonzalez-Bonilla, C.R.4    Zenteno, J.C.5
  • 53
    • 54849423458 scopus 로고    scopus 로고
    • A novel gene, fad49, plays a crucial role in the immediate early stage of adipocyte differentiation via involvement in mitotic clonal expansion
    • Hishida T, Eguchi T, Osada S, Nishizuka M, Imagawa M. 2008. A novel gene, fad49, plays a crucial role in the immediate early stage of adipocyte differentiation via involvement in mitotic clonal expansion. FEBS J 275: 5576-5588.
    • (2008) FEBS J , vol.275 , pp. 5576-5588
    • Hishida, T.1    Eguchi, T.2    Osada, S.3    Nishizuka, M.4    Imagawa, M.5
  • 54
    • 0042921269 scopus 로고    scopus 로고
    • Fgd1, the Cdc42 GEF responsible for Faciogenital Dysplasia, directly interacts with cortactin and mAbp1 to modulate cell shape
    • Hou P, Estrada L, Kinley AW, Parsons JT, Vojtek AB, Gorski JL. 2003. Fgd1, the Cdc42 GEF responsible for Faciogenital Dysplasia, directly interacts with cortactin and mAbp1 to modulate cell shape. Hum Mol Genet 12: 1981-1993.
    • (2003) Hum Mol Genet , vol.12 , pp. 1981-1993
    • Hou, P.1    Estrada, L.2    Kinley, A.W.3    Parsons, J.T.4    Vojtek, A.B.5    Gorski, J.L.6
  • 56
    • 0018593642 scopus 로고
    • Frontometaphyseal dysplasia with congenital urinary tract malformations
    • Kanemura T, Orii T, Ohtani M. 1979. Frontometaphyseal dysplasia with congenital urinary tract malformations. Clin Genet 16: 399-404.
    • (1979) Clin Genet , vol.16 , pp. 399-404
    • Kanemura, T.1    Orii, T.2    Ohtani, M.3
  • 59
    • 0014086018 scopus 로고
    • The roentgenographic features of the oto-palato-digital (OPD) syndrome
    • Langer LO, Jr. 1967. The roentgenographic features of the oto-palato-digital (OPD) syndrome. Am J Roentgenol Radium Ther Nucl Med 100: 63-70.
    • (1967) Am J Roentgenol Radium Ther Nucl Med , vol.100 , pp. 63-70
    • Langer Jr, L.O.1
  • 60
    • 0019921987 scopus 로고
    • Reorganization of cytoskeletal and contractile elements during transition of human monocytes into adherent macrophages
    • Lehto VP, Hovi T, Vartio T, Badley RA, Virtanen I. 1982. Reorganization of cytoskeletal and contractile elements during transition of human monocytes into adherent macrophages. Lab Invest 47: 391-399.
    • (1982) Lab Invest , vol.47 , pp. 391-399
    • Lehto, V.P.1    Hovi, T.2    Vartio, T.3    Badley, R.A.4    Virtanen, I.5
  • 61
    • 0023204492 scopus 로고
    • Prevalence and clinical features of mitral valve prolapse
    • Levy D, Savage D. 1987. Prevalence and clinical features of mitral valve prolapse. Am Heart J 113: 1281-1290.
    • (1987) Am Heart J , vol.113 , pp. 1281-1290
    • Levy, D.1    Savage, D.2
  • 62
    • 33847343034 scopus 로고    scopus 로고
    • The matrix corroded: Podosomes and invadopodia in extracellular matrix degradation
    • Linder S. 2007. The matrix corroded: Podosomes and invadopodia in extracellular matrix degradation. Trends Cell Biol 17: 107-117.
    • (2007) Trends Cell Biol , vol.17 , pp. 107-117
    • Linder, S.1
  • 63
    • 0034234559 scopus 로고    scopus 로고
    • The polarization defect of Wiskott-Aldrich syndrome macrophages is linked to dislocalization of the Arp2/3 complex
    • Linder S, Higgs H, Hufner K, Schwarz K, Pannicke U, Aepfelbacher M. 2000. The polarization defect of Wiskott-Aldrich syndrome macrophages is linked to dislocalization of the Arp2/3 complex. J Immunol 165: 221-225.
    • (2000) J Immunol , vol.165 , pp. 221-225
    • Linder, S.1    Higgs, H.2    Hufner, K.3    Schwarz, K.4    Pannicke, U.5    Aepfelbacher, M.6
  • 64
    • 21044433334 scopus 로고    scopus 로고
    • Podosomes at a glance
    • Linder S, Kopp P. 2005. Podosomes at a glance. J Cell Sci 118: 2079-2082.
    • (2005) J Cell Sci , vol.118 , pp. 2079-2082
    • Linder, S.1    Kopp, P.2
  • 65
    • 0033578374 scopus 로고    scopus 로고
    • Wiskott-Aldrich syndrome protein regulates podosomes in primary human macrophages
    • Linder S, Nelson D, Weiss M, Aepfelbacher M. 1999. Wiskott-Aldrich syndrome protein regulates podosomes in primary human macrophages. Proc Natl Acad Sci USA 96: 9648-9653.
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 9648-9653
    • Linder, S.1    Nelson, D.2    Weiss, M.3    Aepfelbacher, M.4
  • 66
    • 0032480013 scopus 로고    scopus 로고
    • A new method for isolating tyrosine kinase substrates used to identify fish, an SH3 and PX domain-containing protein, and Src substrate
    • Lock P, Abram CL, Gibson T, Courtneidge SA. 1998. A new method for isolating tyrosine kinase substrates used to identify fish, an SH3 and PX domain-containing protein, and Src substrate. EMBO J 17: 4346-4357.
    • (1998) EMBO J , vol.17 , pp. 4346-4357
    • Lock, P.1    Abram, C.L.2    Gibson, T.3    Courtneidge, S.A.4
  • 69
  • 71
    • 0030716477 scopus 로고    scopus 로고
    • Congenital glaucoma, limb deformities, skeletal dysplasia, and facial anomalies: Report of another family
    • Megarbane A, Tomey K, Wakim G. 1997. Congenital glaucoma, limb deformities, skeletal dysplasia, and facial anomalies: Report of another family. Am J Med Genet 73: 67-71.
    • (1997) Am J Med Genet , vol.73 , pp. 67-71
    • Megarbane, A.1    Tomey, K.2    Wakim, G.3
  • 72
    • 0013912499 scopus 로고
    • An undiagnosed bone dysplasia. A 2 family study of 4 generations and 3 generations
    • Melnick JC, Needles CF. 1966. An undiagnosed bone dysplasia. A 2 family study of 4 generations and 3 generations. Am J Roentgenol Radium Ther Nucl Med 97: 39-48.
    • (1966) Am J Roentgenol Radium Ther Nucl Med , vol.97 , pp. 39-48
    • Melnick, J.C.1    Needles, C.F.2
  • 74
    • 0042531667 scopus 로고    scopus 로고
    • Src kinase regulates the activation of a novel FGD-1-related Cdc42 guanine nucleotide exchange factor in the signaling pathway from the endothelin A receptor to JNK
    • Miyamoto Y, Yamauchi J, Itoh H. 2003. Src kinase regulates the activation of a novel FGD-1-related Cdc42 guanine nucleotide exchange factor in the signaling pathway from the endothelin A receptor to JNK. J Biol Chem 278: 29890-29900.
    • (2003) J Biol Chem , vol.278 , pp. 29890-29900
    • Miyamoto, Y.1    Yamauchi, J.2    Itoh, H.3
  • 76
    • 12244285625 scopus 로고    scopus 로고
    • Clinical and genetic heterogeneity in frontometaphyseal dysplasia: Severe progressive scoliosis in two families
    • Morava E, Illes T, Weisenbach J, Karteszi J, Kosztolanyi G. 2003. Clinical and genetic heterogeneity in frontometaphyseal dysplasia: Severe progressive scoliosis in two families. Am J Med Genet A 116A: 272-277.
    • (2003) Am J Med Genet A , vol.116 A , pp. 272-277
    • Morava, E.1    Illes, T.2    Weisenbach, J.3    Karteszi, J.4    Kosztolanyi, G.5
  • 77
    • 0141669167 scopus 로고    scopus 로고
    • Actin can reorganize into podosomes in aortic endothelial cells, a process controlled by Cdc42 and RhoA
    • Moreau V, Tatin F, Varon C, Genot E. 2003. Actin can reorganize into podosomes in aortic endothelial cells, a process controlled by Cdc42 and RhoA. Mol Cell Biol 23: 6809-6822.
    • (2003) Mol Cell Biol , vol.23 , pp. 6809-6822
    • Moreau, V.1    Tatin, F.2    Varon, C.3    Genot, E.4
  • 78
    • 0026457798 scopus 로고
    • Tyrosine phosphorylation of membrane proteins mediates cellular invasion by transformed cells
    • Mueller SC, Yeh Y, Chen WT. 1992. Tyrosine phosphorylation of membrane proteins mediates cellular invasion by transformed cells. J Cell Biol 119: 1309-1325.
    • (1992) J Cell Biol , vol.119 , pp. 1309-1325
    • Mueller, S.C.1    Yeh, Y.2    Chen, W.T.3
  • 79
    • 0032546654 scopus 로고    scopus 로고
    • Activation of G1 progression. JNK mitogen-activated protein kinase, and actin filament assembly by the exchange factor FGD1
    • Nagata K, Driessens M, Lamarche N, Gorski JL, Hall A. 1998. Activation of G1 progression. JNK mitogen-activated protein kinase, and actin filament assembly by the exchange factor FGD1. J Biol Chem 273: 15453-15457.
    • (1998) J Biol Chem , vol.273 , pp. 15453-15457
    • Nagata, K.1    Driessens, M.2    Lamarche, N.3    Gorski, J.L.4    Hall, A.5
  • 80
    • 0020965443 scopus 로고
    • Three-dimensional structure of actin filaments and of an actin gel made with actin-binding protein
    • Niederman R, Amrein PC, Hartwig J. 1983. Three-dimensional structure of actin filaments and of an actin gel made with actin-binding protein. J Cell Biol 96: 1400-1413.
    • (1983) J Cell Biol , vol.96 , pp. 1400-1413
    • Niederman, R.1    Amrein, P.C.2    Hartwig, J.3
  • 81
    • 0025324675 scopus 로고
    • Oto-palato-digital syndrome, type II: Evidence for defective intramembranous ossification
    • Ogata T, Matsuo N, Nishimura G, Hajikano H. 1990. Oto-palato-digital syndrome, type II: Evidence for defective intramembranous ossification. Am J Med Genet 36: 226-231.
    • (1990) Am J Med Genet , vol.36 , pp. 226-231
    • Ogata, T.1    Matsuo, N.2    Nishimura, G.3    Hajikano, H.4
  • 82
    • 18244409911 scopus 로고    scopus 로고
    • Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q)
    • Orrico A, Galli L, Buoni S, Hayek G, Luchetti A, Lorenzini S, Zappella M, Pomponi MG, Sorrentino V. 2005. Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). Am J Med Genet A 135: 99-102.
    • (2005) Am J Med Genet A , vol.135 , pp. 99-102
    • Orrico, A.1    Galli, L.2    Buoni, S.3    Hayek, G.4    Luchetti, A.5    Lorenzini, S.6    Zappella, M.7    Pomponi, M.G.8    Sorrentino, V.9
  • 83
    • 0842323930 scopus 로고    scopus 로고
    • Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: A survey of the clinical variability in light of FGD1 mutation analysis in 46 patients
    • Orrico A, Galli L, Cavaliere ML, Garavelli L, Fryns JP, Crushell E, Rinaldi MM, Medeira A, Sorrentino V. 2004. Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: A survey of the clinical variability in light of FGD1 mutation analysis in 46 patients. Eur J Hum Genet 12: 16-23.
    • (2004) Eur J Hum Genet , vol.12 , pp. 16-23
    • Orrico, A.1    Galli, L.2    Cavaliere, M.L.3    Garavelli, L.4    Fryns, J.P.5    Crushell, E.6    Rinaldi, M.M.7    Medeira, A.8    Sorrentino, V.9
  • 84
    • 0034604718 scopus 로고    scopus 로고
    • A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome)
    • Orrico A, Galli L, Falciani M, Bracci M, Cavaliere ML, Rinaldi MM, Musacchio A, Sorrentino V. 2000. A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome). FEBS Lett 478: 216-220.
    • (2000) FEBS Lett , vol.478 , pp. 216-220
    • Orrico, A.1    Galli, L.2    Falciani, M.3    Bracci, M.4    Cavaliere, M.L.5    Rinaldi, M.M.6    Musacchio, A.7    Sorrentino, V.8
  • 85
    • 0028126564 scopus 로고
    • Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative Rho/Rac guanine nucleotide exchange factor
    • Pasteris NG, Cadle A, Logie LJ, Porteous ME, Schwartz CE, Stevenson RE, Glover TW, Wilroy RS, Gorski JL. 1994. Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative Rho/Rac guanine nucleotide exchange factor. Cell 79: 669-678.
    • (1994) Cell , vol.79 , pp. 669-678
    • Pasteris, N.G.1    Cadle, A.2    Logie, L.J.3    Porteous, M.E.4    Schwartz, C.E.5    Stevenson, R.E.6    Glover, T.W.7    Wilroy, R.S.8    Gorski, J.L.9
  • 88
    • 0028262403 scopus 로고
    • Oto-palato-digital syndrome type II in two unrelated boys
    • Preis S, Kemperdick H, Majewski F. 1994. Oto-palato-digital syndrome type II in two unrelated boys. Clin Genet 45: 154-161.
    • (1994) Clin Genet , vol.45 , pp. 154-161
    • Preis, S.1    Kemperdick, H.2    Majewski, F.3
  • 89
    • 77950564432 scopus 로고    scopus 로고
    • MicroRNA control of podosome formation in vascular smooth muscle cells in vivo and in vitro
    • Quintavalle M, Elia L, Condorelli G, Courtneidge SA. 2010. MicroRNA control of podosome formation in vascular smooth muscle cells in vivo and in vitro. JCell Biol 189: 13-22.
    • (2010) JCell Biol , vol.189 , pp. 13-22
    • Quintavalle, M.1    Elia, L.2    Condorelli, G.3    Courtneidge, S.A.4
  • 90
    • 19444368524 scopus 로고    scopus 로고
    • Filamin A: Phenotypic diversity
    • Robertson SP. 2005. Filamin A: Phenotypic diversity. Curr Opin Genet Dev 15: 301-307.
    • (2005) Curr Opin Genet Dev , vol.15 , pp. 301-307
    • Robertson, S.P.1
  • 91
    • 33845543672 scopus 로고    scopus 로고
    • Otopalatodigital syndrome spectrum disorders: Otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome
    • Robertson SP. 2007. Otopalatodigital syndrome spectrum disorders: Otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. Eur J Hum Genet 15: 3-9.
    • (2007) Eur J Hum Genet , vol.15 , pp. 3-9
    • Robertson, S.P.1
  • 95
    • 0035947593 scopus 로고    scopus 로고
    • Filamin associates with Smads and regulates transforming growth factor-beta signaling
    • Sasaki A, Masuda Y, Ohta Y, Ikeda K, Watanabe K. 2001. Filamin associates with Smads and regulates transforming growth factor-beta signaling. J Biol Chem 276: 17871-17877.
    • (2001) J Biol Chem , vol.276 , pp. 17871-17877
    • Sasaki, A.1    Masuda, Y.2    Ohta, Y.3    Ikeda, K.4    Watanabe, K.5
  • 96
    • 0015052557 scopus 로고
    • Unusual facies, joint hypermobility, genital anomaly and short stature: A new dysmorphic syndrome
    • Scott CI. 1971. Unusual facies, joint hypermobility, genital anomaly and short stature: A new dysmorphic syndrome. Birth Defects Orig Artic Ser 7: 240-246.
    • (1971) Birth Defects Orig Artic Ser , vol.7 , pp. 240-246
    • Scott, C.I.1
  • 97
    • 13844264301 scopus 로고    scopus 로고
    • The adaptor protein Tks5/Fish is required for podosome formation and function, and for the protease-driven invasion of cancer cells
    • Seals DF, Azucena EFJr, Pass I, Tesfay L, Gordon R, Woodrow M, Resau JH, Courtneidge SA. 2005. The adaptor protein Tks5/Fish is required for podosome formation and function, and for the protease-driven invasion of cancer cells. Cancer Cell 7: 155-165.
    • (2005) Cancer Cell , vol.7 , pp. 155-165
    • Seals, D.F.1    Azucena Jr, E.F.2    Pass, I.3    Tesfay, L.4    Gordon, R.5    Woodrow, M.6    Resau, J.H.7    Courtneidge, S.A.8
  • 99
    • 0026023289 scopus 로고
    • Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice
    • Soriano P, Montgomery C, Geske R, Bradley A. 1991. Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice. Cell 64: 693-702.
    • (1991) Cell , vol.64 , pp. 693-702
    • Soriano, P.1    Montgomery, C.2    Geske, R.3    Bradley, A.4
  • 100
    • 33644945032 scopus 로고    scopus 로고
    • Podosomes as smart regulators of cellular adhesion
    • Spinardi L, Marchisio PC. 2006. Podosomes as smart regulators of cellular adhesion. Eur J Cell Biol 85: 191-194.
    • (2006) Eur J Cell Biol , vol.85 , pp. 191-194
    • Spinardi, L.1    Marchisio, P.C.2
  • 102
    • 0032904117 scopus 로고    scopus 로고
    • Recent advances in our understanding of Wiskott-Aldrich syndrome
    • Sullivan KE. 1999. Recent advances in our understanding of Wiskott-Aldrich syndrome. Curr Opin Hematol 6: 8-14.
    • (1999) Curr Opin Hematol , vol.6 , pp. 8-14
    • Sullivan, K.E.1
  • 104
    • 0034983715 scopus 로고    scopus 로고
    • WASP and WAVE family proteins: Key molecules for rapid rearrangement of cortical actin filaments and cell movement
    • Takenawa T, Miki H. 2001. WASP and WAVE family proteins: Key molecules for rapid rearrangement of cortical actin filaments and cell movement. J Cell Sci 114: 1801-1809.
    • (2001) J Cell Sci , vol.114 , pp. 1801-1809
    • Takenawa, T.1    Miki, H.2
  • 105
    • 77955146804 scopus 로고    scopus 로고
    • Podosome-like structures of non-invasive carcinoma cells are replaced in epithelial-mesenchymal transition by actin comet-embedded invadopodia
    • Takkunen M, Hukkanen M, Liljestrom M, Grenman R, Virtanen I. 2010. Podosome-like structures of non-invasive carcinoma cells are replaced in epithelial-mesenchymal transition by actin comet-embedded invadopodia. J Cell Mol Med 14: 1569-1593.
    • (2010) J Cell Mol Med , vol.14 , pp. 1569-1593
    • Takkunen, M.1    Hukkanen, M.2    Liljestrom, M.3    Grenman, R.4    Virtanen, I.5
  • 106
    • 0022357441 scopus 로고
    • Rous sarcoma virus-transformed fibroblasts adhere primarily at discrete protrusions of the ventral membrane called podosomes
    • Tarone G, Cirillo D, Giancotti FG, Comoglio PM, Marchisio PC. 1985. Rous sarcoma virus-transformed fibroblasts adhere primarily at discrete protrusions of the ventral membrane called podosomes. Exp Cell Res 159: 141-157.
    • (1985) Exp Cell Res , vol.159 , pp. 141-157
    • Tarone, G.1    Cirillo, D.2    Giancotti, F.G.3    Comoglio, P.M.4    Marchisio, P.C.5
  • 107
    • 0020357860 scopus 로고
    • Melnick-Needles syndrome: Indication for an autosomal recessive form
    • ter Haar B, Hamel B, Hendriks J, de Jager J. 1982. Melnick-Needles syndrome: Indication for an autosomal recessive form. Am J Med Genet 13: 469-477.
    • (1982) Am J Med Genet , vol.13 , pp. 469-477
    • ter Haar, B.1    Hamel, B.2    Hendriks, J.3    de Jager, J.4
  • 108
    • 70450198396 scopus 로고    scopus 로고
    • Epithelial-mesenchymal transitions in development and disease
    • Thiery JP, Acloque H, Huang RY, Nieto MA. 2009. Epithelial-mesenchymal transitions in development and disease. Cell 139: 871-890.
    • (2009) Cell , vol.139 , pp. 871-890
    • Thiery, J.P.1    Acloque, H.2    Huang, R.Y.3    Nieto, M.A.4
  • 110
    • 0028985239 scopus 로고
    • The C-terminal domain of alpha-spectrin is structurally related to calmodulin
    • Trave G, Pastore A, Hyvonen M, Saraste M. 1995. The C-terminal domain of alpha-spectrin is structurally related to calmodulin. Eur J Biochem 227: 35-42.
    • (1995) Eur J Biochem , vol.227 , pp. 35-42
    • Trave, G.1    Pastore, A.2    Hyvonen, M.3    Saraste, M.4
  • 111
    • 0037418837 scopus 로고    scopus 로고
    • Migfilin and Mig-2 link focal adhesions to filamin and the actin cytoskeleton and function in cell shape modulation
    • Tu Y, Wu S, Shi X, Chen K, Wu C. 2003. Migfilin and Mig-2 link focal adhesions to filamin and the actin cytoskeleton and function in cell shape modulation. Cell 113: 37-47.
    • (2003) Cell , vol.113 , pp. 37-47
    • Tu, Y.1    Wu, S.2    Shi, X.3    Chen, K.4    Wu, C.5
  • 112
    • 0034723715 scopus 로고    scopus 로고
    • Fronto-otopalatodigital osteodysplasia: Clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia
    • Verloes A, Lesenfants S, Barr M, Grange DK, Journel H, Lombet J, Mortier G, Roeder E. 2000. Fronto-otopalatodigital osteodysplasia: Clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. Am J Med Genet 90: 407-422.
    • (2000) Am J Med Genet , vol.90 , pp. 407-422
    • Verloes, A.1    Lesenfants, S.2    Barr, M.3    Grange, D.K.4    Journel, H.5    Lombet, J.6    Mortier, G.7    Roeder, E.8
  • 113
    • 0030963306 scopus 로고    scopus 로고
    • Extended survival in a new case of ter Haar syndrome: Further delineation of the syndrome
    • Wallerstein R, Scott CIJr, Nicholson L. 1997. Extended survival in a new case of ter Haar syndrome: Further delineation of the syndrome. Am J Med Genet 70: 267-272.
    • (1997) Am J Med Genet , vol.70 , pp. 267-272
    • Wallerstein, R.1    Scott Jr, C.I.2    Nicholson, L.3
  • 114
    • 70350633830 scopus 로고    scopus 로고
    • Actinin-4 expression in primary and metastasized pancreatic ductal adenocarcinoma
    • Welsch T, Keleg S, Bergmann F, Bauer S, Hinz U, Schmidt J. 2009. Actinin-4 expression in primary and metastasized pancreatic ductal adenocarcinoma. Pancreas 38: 968-976.
    • (2009) Pancreas , vol.38 , pp. 968-976
    • Welsch, T.1    Keleg, S.2    Bergmann, F.3    Bauer, S.4    Hinz, U.5    Schmidt, J.6
  • 115
    • 0000788042 scopus 로고
    • Familiarer, angeborener Morbus Werlhofii?
    • Wiskott A. 1937. Familiarer, angeborener Morbus Werlhofii? Mschr. Kinderheilk 68: 212-216.
    • (1937) Mschr. Kinderheilk , vol.68 , pp. 212-216
    • Wiskott, A.1
  • 116
    • 44449144396 scopus 로고    scopus 로고
    • Epithelial-mesenchymal transition: At the crossroads of development and tumor metastasis
    • Yang J, Weinberg RA. 2008. Epithelial-mesenchymal transition: At the crossroads of development and tumor metastasis. Dev Cell 14: 818-829.
    • (2008) Dev Cell , vol.14 , pp. 818-829
    • Yang, J.1    Weinberg, R.A.2
  • 117
    • 16644399642 scopus 로고    scopus 로고
    • Alpha-actinin-4-mediated FSGS: An inherited kidney disease caused by an aggregated and rapidly degraded cytoskeletal protein
    • Yao J, Le TC, Kos CH, Henderson JM, Allen PG, Denker BM, Pollak MR. 2004. Alpha-actinin-4-mediated FSGS: An inherited kidney disease caused by an aggregated and rapidly degraded cytoskeletal protein. PLoS Biol 2: e167.
    • (2004) PLoS Biol , vol.2
    • Yao, J.1    Le, T.C.2    Kos, C.H.3    Henderson, J.M.4    Allen, P.G.5    Denker, B.M.6    Pollak, M.R.7
  • 118
    • 0030451173 scopus 로고    scopus 로고
    • The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor
    • Zheng Y, Fischer DJ, Santos MF, Tigyi G, Pasteris NG, Gorski JL, Xu Y. 1996. The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor. J Biol Chem 271: 33169-33172.
    • (1996) J Biol Chem , vol.271 , pp. 33169-33172
    • Zheng, Y.1    Fischer, D.J.2    Santos, M.F.3    Tigyi, G.4    Pasteris, N.G.5    Gorski, J.L.6    Xu, Y.7
  • 119
    • 75149145088 scopus 로고    scopus 로고
    • Filamins in cell signaling, transcription and organ development
    • Zhou AX, Hartwig JH, Akyurek LM. 2010. Filamins in cell signaling, transcription and organ development. Trends Cell Biol 20: 113-123.
    • (2010) Trends Cell Biol , vol.20 , pp. 113-123
    • Zhou, A.X.1    Hartwig, J.H.2    Akyurek, L.M.3


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