| 1 | FGD1
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| FGD1 as a central regulator of extracellular matrix remodelling--lessons from faciogenital dysplasia.
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| Genot E, Daubon T, Sorrentino V, Buccione R.
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| J Cell Sci 125(Pt 14):3265-70. doi: 10.1242/jcs.093419. Epub 2012 Aug 1.
2012
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| 2 | FGD1
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| The Aarskog-Scott syndrome protein Fgd1 regulates podosome formation and extracellular matrix remodeling in transforming growth factor β-stimulated aortic endothelial cells.
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| Daubon T, Buccione R, Génot E.
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| Mol Cell Biol 31(22):4430-41. doi: 10.1128/MCB.05474-11. Epub 2011 Sep 12.
2011
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| 3 | FGD1, MAP3K11
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| MLK3 regulates bone development downstream of the faciogenital dysplasia protein FGD1 in mice.
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| Zou W, Greenblatt MB, Shim JH, Kant S, Zhai B, Lotinun S, Brady N, Hu DZ, Gygi SP, Baron R, Davis RJ, Jones D, Glimcher LH.
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| J Clin Invest 121(11):4383-92. doi: 10.1172/JCI59041. Epub 2011 Oct 3.
2011
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| 4 | FGD1
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| The Cdc42 guanine nucleotide exchange factor FGD1 regulates osteogenesis in human mesenchymal stem cells.
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| Gao L, Gorski JL, Chen CS.
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| Am J Pathol 178(3):969-74. doi: 10.1016/j.ajpath.2010.11.051.
2011
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| 5 | FGD1
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| Role of FGD1, a Cdc42 guanine nucleotide exchange factor, in epidermal growth factor-stimulated c-Jun NH2-terminal kinase activation and cell migration.
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| Oshima T, Fujino T, Ando K, Hayakawa M.
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| Biol Pharm Bull 34(1):54-60.
2011
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| 6 | FGD1
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| Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.
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| Orrico A, Galli L, Faivre L, Clayton-Smith J, Azzarello-Burri SM, Hertz JM, Jacquemont S, Taurisano R, Arroyo Carrera I, Tarantino E, Devriendt K, Melis D, Thelle T, Meinhardt U, Sorrentino V.
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| Am J Med Genet A 152A(2):313-8. doi: 10.1002/ajmg.a.33199.
2010
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| 7 | FGD1
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| Faciogenital dysplasia protein (FGD1) regulates export of cargo proteins from the golgi complex via Cdc42 activation.
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| Egorov MV, Capestrano M, Vorontsova OA, Di Pentima A, Egorova AV, Mariggiò S, Ayala MI, Tetè S, Gorski JL, Luini A, Buccione R, Polishchuk RS.
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| Mol Biol Cell 20(9):2413-27. doi: 10.1091/mbc.E08-11-1136. Epub 2009 Mar 4.
2009
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| 8 | FGD1, FGD2, FGD3, FGD4
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| Frabin and other related Cdc42-specific guanine nucleotide exchange factors couple the actin cytoskeleton with the plasma membrane.
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| Nakanishi H, Takai Y.
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| J Cell Mol Med 12(4):1169-76. Epub 2008 Apr 9. Review.
2008
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| 9 | FGD1, FGD3
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| Novel insights into FGD3, a putative GEF for Cdc42, that undergoes SCF(FWD1/beta-TrCP)-mediated proteasomal degradation analogous to that of its homologue FGD1 but regulates cell morphology and motility differently from FGD1.
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| Hayakawa M, Matsushima M, Hagiwara H, Oshima T, Fujino T, Ando K, Kikugawa K, Tanaka H, Miyazawa K, Kitagawa M.
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| Genes Cells 13(4):329-42.
2008
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| 10 | FGD1, FGD2, FGD3, FGD4
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| FGD2, a CDC42-specific exchange factor expressed by antigen-presenting cells, localizes to early endosomes and active membrane ruffles.
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| Huber C, Mårtensson A, Bokoch GM, Nemazee D, Gavin AL.
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| J Biol Chem 283(49):34002-12. Epub 2008 Oct 6.
2008
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| 11 | FGD1
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| Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene.
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| Orrico A, Galli L, Obregon MG, de Castro Perez MF, Falciani M, Sorrentino V.
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| Am J Med Genet A 143(1):58-63. 2007
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| 12 | FGD1
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| Unilateral focal polymicrogyria in a patient with classical Aarskog-Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1.
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| Bottani A, Orrico A, Galli L, Karam O, Haenggeli CA, Ferey S, Conrad B.
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| Am J Med Genet A 143(19):2334-8. 2007
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| 13 | FGD1
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| Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene.
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| Shalev SA, Chervinski E, Weiner E, Mazor G, Friez MJ, Schwartz CE.
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| Am J Med Genet A 140(2):162-5. 2006
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| 14 | FGD1
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| The FG syndrome: report of a large Italian series.
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| Battaglia A, Chines C, Carey JC.
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| Am J Med Genet A 140(19):2075-9. 2006
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| 15 | FGD1
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| Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q).
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| Orrico A, Galli L, Buoni S, Hayek G, Luchetti A, Lorenzini S, Zappella M, Pomponi MG, Sorrentino V.
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| Am J Med Genet A 135(1):99-102. 2005
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| 16 | CTTN, FGD1
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| Fgd1, the Cdc42 GEF responsible for Faciogenital Dysplasia, directly interacts with cortactin and mAbp1 to modulate cell shape.
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| Hou P, Estrada L, Kinley AW, Parsons JT, Vojtek AB, Gorski JL.
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| Hum Mol Genet 12(16):1981-93. 2003
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| 17 | FGD1
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| Fgd1, the Cdc42 guanine nucleotide exchange factor responsible for faciogenital dysplasia, is localized to the subcortical actin cytoskeleton and Golgi membrane.
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| Estrada L, Caron E, Gorski JL.
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| Hum Mol Genet 10(5):485-95. 2001
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| 18 | FGD1, GEMIN2, SMN1
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| Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy.
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| Jablonka S, Bandilla M, Wiese S, Buhler D, Wirth B, Sendtner M, Fischer U.
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| Hum Mol Genet 10(5):497-505. 2001
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| 19 | FGD1
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| The Caenorhabditis elegans homolog of FGD1, the human Cdc42 GEF gene responsible for faciogenital dysplasia, is critical for excretory cell morphogenesis.
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| Gao J, Estrada L, Cho S, Ellis RE, Gorski JL.
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| Hum Mol Genet 10(26):3049-62. 2001
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| 20 | FGD1, FGD3
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| Isolation, characterization, and mapping of the mouse Fgd3 gene, a new Faciogenital Dysplasia (FGD1; Aarskog Syndrome) gene homologue.
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| Pasteris NG, Nagata K, Hall A, Gorski JL.
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| Gene 242(1-2):237-47. 2000
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| 21 | FGD1
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| A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome).
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| Orrico A, Galli L, Falciani M, Bracci M, Cavaliere ML, Rinaldi MM, Musacchio A, Sorrentino V.
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| FEBS Lett 478(3):216-20. 2000
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| 22 | FGD1
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| Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome.
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| Schwartz CE, Gillessen-Kaesbach G, May M, Cappa M, Gorski J, Steindl K, Neri G.
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| Eur J Hum Genet 8(11):869-74. 2000
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| 23 | OPHN1, FGD1, FMR1, GDI1, PAK3, RPS6KA3, MRX1
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| Breakthroughs in molecular and cellular mechanisms underlying X-linked mental retardation.
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| Chelly J.
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| Hum Mol Genet 8(10):1833-8. Review. 1999
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| 24 | FGD1
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| Genomic organization of the faciogenital dysplasia (FGD1; Aarskog syndrome) gene.
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| Pasteris NG, Buckler J, Cadle AB, Gorski JL.
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| Genomics 43(3):390-4. 1997
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| 25 | FGD1
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| Second mutation found in the FGD1 gene causing the Aarskog syndrome. (abstr)
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| Neri G, et al.
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| Am J Hum Genet 61 : A341. 1997
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| 26 | FGD1
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| The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor.
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| Zheng Y, et al.
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| J Biol Chem 271 : 33169-33172. 1996
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| 27 | FGD1
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| An intragenic TaqI polymorphism in the faciogenital dysplasia (FGD1) locus, the gene responsible for Aarskog syndrome.
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| Pasteris NG, et al.
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| Hum Genet 96 : 494. 1995
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| 28 | FGD1
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| The facio-digito-genital syndrome (Aarskog syndrome) : a further delineation of the distinct radiological findings.
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| Lizcano-Gil LA, et al.
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| Genet Couns 5 : 387-392. 1994
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| 29 | FGD1
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| Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene : a putative Rho/Rac guanine nucleotide exchange factor.
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| Pasteris NG, et al.
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| Cell 79 : 669-678. 1994
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| 30 | DXS554, DXS559, DXS566, FGD1
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| Isolation and characterization of three microsatellite markers in the proximal long arm of the human X chromosome.
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| Lindsay S, et al.
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| Genomics 17 : 208-210. 1993
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| 31 | FGD1
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| Translocation breakpoint in Aarskog syndrome maps to Xp11.21 between ALAS2 and DXS323.
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| Glover TW, et al.
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| Hum Mol Genet 2 : 1717-1718. 1993
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| 32 | FGD1
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| The gene for Aarskog syndrome is located between DXS255 and DXS566 (Xp11.2-Xq13).
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| Porteous MEM, et al.
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| Genomics 14 : 298-301. 1992
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| 33 | FGD1
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| Aarskog syndrome: full male and female expression associated with an X-autosome translocation.
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| Bawle E, et al.
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| Am J Med Genet 17 : 595-602. 1984
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