| 1 | CMT4H, FGD4
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| Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H.
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| Fabrizi GM, Taioli F, Cavallaro T, Ferrari S, Bertolasi L, Casarotto M, Rizzuto N, Deconinck T, Timmerman V, De Jonghe P.
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| Neurology 72(13):1160-4.
2009
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| 2 | CMT4H, FGD4
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| A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H.
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| Houlden H, Hammans S, Katifi H, Reilly MM.
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| Neurology 72(7):617-20.
2009
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| 3 | 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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| 4 | 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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| 5 | CMT4H,FGD4
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| Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4.
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| Stendel C, Roos A, Deconinck T, Pereira J, Castagner F, Niemann A, Kirschner J, Korinthenberg R, Ketelsen UP, Battaloglu E, Parman Y, Nicholson G, Ouvrier R, Seeger J, Jonghe PD, Weis J, Kruttgen A, Rudnik-Schoneborn S, Bergmann C, Suter U, Zerres K, Timmerman V, Relvas JB, Senderek J.
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| Am J Hum Genet 81(1):158-64. Epub 2007 May 24. 2007
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| 6 | CMT4H, FGD2, FGD4
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| Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.
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| Delague V, Jacquier A, Hamadouche T, Poitelon Y, Baudot C, Boccaccio I, Chouery E, Chaouch M, Kassouri N, Jabbour R, Grid D, Megarbane A, Haase G, Levy N.
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| Am J Hum Genet 81(1):1-16. Epub 2007 May 15. 2007
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| 7 | FGD4
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| Identification of splicing variants of Frabin with partly different functions and tissue distribution.
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| Ikeda W, Nakanishi H, Takekuni K, Itoh S, Takai Y.
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| Biochem Biophys Res Commun 286(5):1066-72. 2001
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| 8 | FGD4
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| Cooperation of Cdc42 small G protein-activating and actin filament-binding activities of frabin in microspike formation.
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| Ikeda W, Nakanishi H, Tanaka Y, Tachibana K, Takai Y.
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| Oncogene 20(27):3457-63.
2001
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