- EGR2
Early growth response 2 (Krox-20 homolog, Drosophila), also known as EGR2, is a human
gene .PBB_Summary
section_title =
summary_text = 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 dominantCharcot-Marie-Tooth disease , type 1.cite web | title = Entrez Gene: EGR2 early growth response 2 (Krox-20 homolog, Drosophila)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1959| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Rangnekar VM, Aplin AC, Sukhatme VP |title=The serum and TPA responsive promoter and intron-exon structure of EGR2, a human early growth response gene encoding a zinc finger protein. |journal=Nucleic Acids Res. |volume=18 |issue= 9 |pages= 2749–57 |year= 1990 |pmid= 2111009 |doi=
*cite journal | author=Chavrier P, Janssen-Timmen U, Mattéi MG, "et al." |title=Structure, chromosome location, and expression of the mouse zinc finger gene Krox-20: multiple gene products and coregulation with the proto-oncogene c-fos. |journal=Mol. Cell. Biol. |volume=9 |issue= 2 |pages= 787–97 |year= 1989 |pmid= 2496302 |doi=
*cite journal | author=Joseph LJ, Le Beau MM, Jamieson GA, "et al." |title=Molecular cloning, sequencing, and mapping of EGR2, a human early growth response gene encoding a protein with "zinc-binding finger" structure. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=85 |issue= 19 |pages= 7164–8 |year= 1988 |pmid= 3140236 |doi=
*cite journal | author=Topilko P, Schneider-Maunoury S, Levi G, "et al." |title=Krox-20 controls myelination in the peripheral nervous system. |journal=Nature |volume=371 |issue= 6500 |pages= 796–9 |year= 1994 |pmid= 7935840 |doi= 10.1038/371796a0
*cite journal | author=Sham MH, Vesque C, Nonchev S, "et al." |title=The zinc finger gene Krox20 regulates HoxB2 (Hox2.8) during hindbrain segmentation. |journal=Cell |volume=72 |issue= 2 |pages= 183–96 |year= 1993 |pmid= 8093858 |doi=
*cite journal | author=Levi G, Topilko P, Schneider-Maunoury S, "et al." |title=Role of Krox-20 in endochondral bone formation. |journal=Ann. N. Y. Acad. Sci. |volume=785 |issue= |pages= 288–91 |year= 1996 |pmid= 8702157 |doi=
*cite journal | author=Warner LE, Mancias P, Butler IJ, "et al." |title=Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. |journal=Nat. Genet. |volume=18 |issue= 4 |pages= 382–4 |year= 1998 |pmid= 9537424 |doi= 10.1038/ng0498-382
*cite journal | author=Warner LE, Svaren J, Milbrandt J, Lupski JR |title=Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. |journal=Hum. Mol. Genet. |volume=8 |issue= 7 |pages= 1245–51 |year= 1999 |pmid= 10369870 |doi=
*cite journal | author=Timmerman V, De Jonghe P, Ceuterick C, "et al." |title=Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype. |journal=Neurology |volume=52 |issue= 9 |pages= 1827–32 |year= 1999 |pmid= 10371530 |doi=
*cite journal | author=Bellone E, Di Maria E, Soriani S, "et al." |title=A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. |journal=Hum. Mutat. |volume=14 |issue= 4 |pages= 353–4 |year= 1999 |pmid= 10502832 |doi= 10.1002/(SICI)1098-1004(199910)14:4<353::AID-HUMU17>3.0.CO;2-4 |doilabel=10.1002/(SICI)1098-1004(199910)14:4353::AID-HUMU173.0.CO;2-4
*cite journal | author=Pareyson D, Taroni F, Botti S, "et al." |title=Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation. |journal=Neurology |volume=54 |issue= 8 |pages= 1696–8 |year= 2000 |pmid= 10762521 |doi=
*cite journal | author=Gambardella L, Schneider-Maunoury S, Voiculescu O, "et al." |title=Pattern of expression of the transcription factor Krox-20 in mouse hair follicle. |journal=Mech. Dev. |volume=96 |issue= 2 |pages= 215–8 |year= 2000 |pmid= 10960786 |doi=
*cite journal | author=Yoshihara T, Kanda F, Yamamoto M, "et al." |title=A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot--Marie--Tooth disease type 1. |journal=J. Neurol. Sci. |volume=184 |issue= 2 |pages= 149–53 |year= 2001 |pmid= 11239949 |doi=
*cite journal | author=Boerkoel CF, Takashima H, Bacino CA, "et al." |title=EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy. |journal=Neurogenetics |volume=3 |issue= 3 |pages= 153–7 |year= 2002 |pmid= 11523566 |doi=
*cite journal | author=Yang Y, Dong B, Mittelstadt PR, "et al." |title=HIV Tat binds Egr proteins and enhances Egr-dependent transactivation of the Fas ligand promoter. |journal=J. Biol. Chem. |volume=277 |issue= 22 |pages= 19482–7 |year= 2002 |pmid= 11909874 |doi= 10.1074/jbc.M201687200
*cite journal | author=Vandenberghe N, Upadhyaya M, Gatignol A, "et al." |title=Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies. |journal=J. Med. Genet. |volume=39 |issue= 12 |pages= e81 |year= 2003 |pmid= 12471219 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Musso M, Balestra P, Taroni F, "et al." |title=Different consequences of EGR2 mutants on the transactivation of human Cx32 promoter. |journal=Neurobiol. Dis. |volume=12 |issue= 1 |pages= 89–95 |year= 2003 |pmid= 12609493 |doi=
*cite journal | author=Unoki M, Nakamura Y |title=EGR2 induces apoptosis in various cancer cell lines by direct transactivation of BNIP3L and BAK. |journal=Oncogene |volume=22 |issue= 14 |pages= 2172–85 |year= 2003 |pmid= 12687019 |doi= 10.1038/sj.onc.1206222
*cite journal | author=Numakura C, Shirahata E, Yamashita S, "et al." |title=Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1. |journal=J. Neurol. Sci. |volume=210 |issue= 1-2 |pages= 61–4 |year= 2003 |pmid= 12736090 |doi=External links
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