The early growth response protein 2 is a transcription factor with three tandem C2H2-type zinc fingers. Mutations in this gene are associated with the autosomal dominant Charcot-Marie-Tooth disease, type 1D,[1]Dejerine–Sottas disease, [2] and Congenital Hypomyelinating Neuropathy[3]
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^Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG et al. (Apr 1998). "Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies". Nature Genetics18 (4): 382–384. doi:10.1038/ng0498-382. PMID9537424.
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Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG et al. (Apr 1998). "Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies". Nature Genetics18 (4): 382–4. doi:10.1038/ng0498-382. PMID9537424.
Warner LE, Svaren J, Milbrandt J, Lupski JR (Jul 1999). "Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies". Human Molecular Genetics8 (7): 1245–51. doi:10.1093/hmg/8.7.1245. PMID10369870.
Timmerman V, De Jonghe P, Ceuterick C, De Vriendt E, Löfgren A, Nelis E et al. (Jun 1999). "Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype". Neurology52 (9): 1827–32. doi:10.1212/wnl.52.9.1827. PMID10371530.
Bellone E, Di Maria E, Soriani S, Varese A, Doria LL, Ajmar F et al. (Oct 1999). "A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease". Human Mutation14 (4): 353–4. doi:10.1002/(SICI)1098-1004(199910)14:4<353::AID-HUMU17>3.0.CO;2-4. PMID10502832.
Pareyson D, Taroni F, Botti S, Morbin M, Baratta S, Lauria G et al. (Apr 2000). "Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation". Neurology54 (8): 1696–8. doi:10.1212/wnl.54.8.1696. PMID10762521.
Gambardella L, Schneider-Maunoury S, Voiculescu O, Charnay P, Barrandon Y (Sep 2000). "Pattern of expression of the transcription factor Krox-20 in mouse hair follicle". Mechanisms of Development96 (2): 215–8. doi:10.1016/S0925-4773(00)00398-1. PMID10960786.
Yoshihara T, Kanda F, Yamamoto M, Ishihara H, Misu K, Hattori N et al. (Mar 2001). "A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot--Marie--Tooth disease type 1". Journal of the Neurological Sciences184 (2): 149–53. doi:10.1016/S0022-510X(00)00504-9. PMID11239949.
Boerkoel CF, Takashima H, Bacino CA, Daentl D, Lupski JR (Jul 2001). "EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy". Neurogenetics3 (3): 153–7. doi:10.1007/s100480100107. PMID11523566.
Yang Y, Dong B, Mittelstadt PR, Xiao H, Ashwell JD (May 2002). "HIV Tat binds Egr proteins and enhances Egr-dependent transactivation of the Fas ligand promoter". The Journal of Biological Chemistry277 (22): 19482–7. doi:10.1074/jbc.M201687200. PMID11909874.
Musso M, Balestra P, Taroni F, Bellone E, Mandich P (Feb 2003). "Different consequences of EGR2 mutants on the transactivation of human Cx32 promoter". Neurobiology of Disease12 (1): 89–95. doi:10.1016/S0969-9961(02)00018-9. PMID12609493.
Unoki M, Nakamura Y (Apr 2003). "EGR2 induces apoptosis in various cancer cell lines by direct transactivation of BNIP3L and BAK". Oncogene22 (14): 2172–85. doi:10.1038/sj.onc.1206222. PMID12687019.
Numakura C, Shirahata E, Yamashita S, Kanai M, Kijima K, Matsuki T et al. (Jun 2003). "Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1". Journal of the Neurological Sciences210 (1-2): 61–4. doi:10.1016/S0022-510X(03)00028-5. PMID12736090.