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References

These sources were used to develop the Genetics Home Reference gene summary on the FGD4 gene.

Delague V, Jacquier A, Hamadouche T, Poitelon Y, Baudot C, Boccaccio I, Chouery E, Chaouch M, Kassouri N, Jabbour R, Grid D, Mégarbané A, Haase G, Lévy N. Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H. Am J Hum Genet. 2007 Jul;81(1):1-16. Epub 2007 May 15. PubMed citation
De Sandre-Giovannoli A, Delague V, Hamadouche T, Chaouch M, Krahn M, Boccaccio I, Maisonobe T, Chouery E, Jabbour R, Atweh S, Grid D, Mégarbané A, Lévy N. Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11. J Med Genet. 2005 Mar;42(3):260-5. PubMed citation
Entrez Gene
Fabrizi GM, Taioli F, Cavallaro T, Ferrari S, Bertolasi L, Casarotto M, Rizzuto N, Deconinck T, Timmerman V, De Jonghe P. Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H. Neurology. 2009 Mar 31;72(13):1160-4. doi: 10.1212/01.wnl.0000345373.58618.b6. PubMed citation
Gene Review: Charcot-Marie-Tooth Neuropathy Type 4
Houlden H, Hammans S, Katifi H, Reilly MM. A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H. Neurology. 2009 Feb 17;72(7):617-20. doi: 10.1212/01.wnl.0000342463.35089.cc. PubMed citation
Ikeda W, Nakanishi H, Takekuni K, Itoh S, Takai Y. Identification of splicing variants of Frabin with partly different functions and tissue distribution. Biochem Biophys Res Commun. 2001 Sep 7;286(5):1066-72. PubMed citation
Kim Y, Ikeda W, Nakanishi H, Tanaka Y, Takekuni K, Itoh S, Monden M, Takai Y. Association of frabin with specific actin and membrane structures. Genes Cells. 2002 Apr;7(4):413-20. PubMed citation
Nakanishi H, Takai Y. Frabin and other related Cdc42-specific guanine nucleotide exchange factors couple the actin cytoskeleton with the plasma membrane. J Cell Mol Med. 2008 Aug;12(4):1169-76. doi: 10.1111/j.1582-4934.2008.00345.x. Epub 2008 Apr 9. Review. PubMed citation
OMIM: FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4
Ono Y, Nakanishi H, Nishimura M, Kakizaki M, Takahashi K, Miyahara M, Satoh-Horikawa K, Mandai K, Takai Y. Two actions of frabin: direct activation of Cdc42 and indirect activation of Rac. Oncogene. 2000 Jun 22;19(27):3050-8. PubMed citation
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, De Jonghe P, Weis J, Krüttgen A, Rudnik-Schöneborn S, Bergmann C, Suter U, Zerres K, Timmerman V, Relvas JB, Senderek J. Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. Am J Hum Genet. 2007 Jul;81(1):158-64. Epub 2007 May 24. PubMed citation


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