[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG).
PubMed=3140236 [NCBI, ExPASy, EBI, Israel, Japan]
Joseph L.J.,
le Beau M.M.,
Jamieson G.A. Jr.,
Acharya S.,
Shows T.B.,
Rowley J.D.,
Sukhatme V.P.;
"Molecular cloning, sequencing, and mapping of EGR2, a human early growth response gene encoding a protein with 'zinc-binding finger' structure.";
Proc. Natl. Acad. Sci. U.S.A. 85:7164-7168(1988).
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[2]
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ERRATUM, AND SEQUENCE REVISION TO C-TERMINUS.
Joseph L.J.,
le Beau M.M.,
Jamieson G.A. Jr.,
Acharya S.,
Shows T.B.,
Rowley J.D.,
Sukhatme V.P.;
Proc. Natl. Acad. Sci. U.S.A. 86:515-515(1989).
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[3]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG), VARIANTS CHN ASN-268 AND 382-ARG-TYR-383, AND VARIANT CMT1D TRP-409.
DOI=10.1038/ng0498-382; PubMed=9537424 [NCBI, ExPASy, EBI, Israel, Japan]
Warner L.E.,
Mancias P.,
Butler I.J.,
McDonald C.M.,
Keppen L.,
Koob K.G.,
Lupski J.R.;
"Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.";
Nat. Genet. 18:382-384(1998).
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Endometrium;
The German cDNA consortium;
Submitted (AUG-2004) to the EMBL/GenBank/DDBJ databases.
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[5]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature02462; PubMed=15164054 [NCBI, ExPASy, EBI, Israel, Japan]
Deloukas P.,
Earthrowl M.E.,
Grafham D.V.,
Rubenfield M.,
French L.,
Steward C.A.,
Sims S.K.,
Jones M.C.,
Searle S.,
Scott C.,
Howe K.,
Hunt S.E.,
Andrews T.D.,
Gilbert J.G.R.,
Swarbreck D.,
Ashurst J.L.,
Taylor A.,
Battles J.,
Bird C.P., ![]()
Ainscough R.,
Almeida J.P.,
Ashwell R.I.S.,
Ambrose K.D.,
Babbage A.K.,
Bagguley C.L.,
Bailey J.,
Banerjee R.,
Bates K.,
Beasley H.,
Bray-Allen S.,
Brown A.J.,
Brown J.Y.,
Burford D.C.,
Burrill W.,
Burton J.,
Cahill P.,
Camire D.,
Carter N.P.,
Chapman J.C.,
Clark S.Y.,
Clarke G.,
Clee C.M.,
Clegg S.,
Corby N.,
Coulson A.,
Dhami P.,
Dutta I.,
Dunn M.,
Faulkner L.,
Frankish A.,
Frankland J.A.,
Garner P.,
Garnett J.,
Gribble S.,
Griffiths C.,
Grocock R.,
Gustafson E.,
Hammond S.,
Harley J.L.,
Hart E.,
Heath P.D.,
Ho T.P.,
Hopkins B.,
Horne J.,
Howden P.J.,
Huckle E.,
Hynds C.,
Johnson C.,
Johnson D.,
Kana A.,
Kay M.,
Kimberley A.M.,
Kershaw J.K.,
Kokkinaki M.,
Laird G.K.,
Lawlor S.,
Lee H.M.,
Leongamornlert D.A.,
Laird G.,
Lloyd C.,
Lloyd D.M.,
Loveland J.,
Lovell J.,
McLaren S.,
McLay K.E.,
McMurray A.,
Mashreghi-Mohammadi M.,
Matthews L.,
Milne S.,
Nickerson T.,
Nguyen M.,
Overton-Larty E.,
Palmer S.A.,
Pearce A.V.,
Peck A.I.,
Pelan S.,
Phillimore B.,
Porter K.,
Rice C.M.,
Rogosin A.,
Ross M.T.,
Sarafidou T.,
Sehra H.K.,
Shownkeen R.,
Skuce C.D.,
Smith M.,
Standring L.,
Sycamore N.,
Tester J.,
Thorpe A.,
Torcasso W.,
Tracey A.,
Tromans A.,
Tsolas J.,
Wall M.,
Walsh J.,
Wang H.,
Weinstock K.,
West A.P.,
Willey D.L.,
Whitehead S.L.,
Wilming L.,
Wray P.W.,
Young L.,
Chen Y.,
Lovering R.C.,
Moschonas N.K.,
Siebert R.,
Fechtel K.,
Bentley D.,
Durbin R.M.,
Hubbard T.,
Doucette-Stamm L.,
Beck S.,
Smith D.R.,
Rogers J.;
"The DNA sequence and comparative analysis of human chromosome 10.";
Nature 429:375-381(2004).
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[6]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[7]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-21.
DOI=10.1093/nar/18.9.2749; PubMed=2111009 [NCBI, ExPASy, EBI, Israel, Japan]
Rangnekar V.M.,
Aplin A.C.,
Sukhatme V.P.;
"The serum and TPA responsive promoter and intron-exon structure of EGR2, a human early growth response gene encoding a zinc finger protein.";
Nucleic Acids Res. 18:2749-2757(1990).
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[8]
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INTERACTION WITH HCFC1, AND MUTAGENESIS OF 162-ASP--TYR-165.
DOI=10.1074/jbc.M303470200; PubMed=14532282 [NCBI, ExPASy, EBI, Israel, Japan]
Luciano R.L.,
Wilson A.C.;
"HCF-1 functions as a coactivator for the zinc finger protein Krox20.";
J. Biol. Chem. 278:51116-51124(2003).
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[9]
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VARIANT CMT1D VAL-355.
Di Maria E.,
Bellone E.,
Soriani S.,
Varese A.,
Lamba Doria L.,
Grandis M.,
Schenone A.,
Levi G.,
Ajmar F.,
Mandich P.;
"EGR2 gene mutation in a patient affected with Charcot-Marie-Tooth type 1.";
Eur. J. Hum. Genet. Suppl. 7:99-99(1999).
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[10]
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VARIANT CMT1D VAL-355.
DOI=10.1002/(SICI)1098-1004(199910)14:4<353::AID-HUMU17>3.3.CO;2-W; PubMed=10502832 [NCBI, ExPASy, EBI, Israel, Japan]
Bellone E.,
Di Maria E.,
Soriani S.,
Varese A.,
Lamba Doria L.,
Ajmar F.,
Mandich P.;
"A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease.";
Hum. Mutat. 14:353-354(1999).
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[11]
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VARIANT DSS TRP-359.
PubMed=10371530 [NCBI, ExPASy, EBI, Israel, Japan]
Timmerman V.,
De Jonghe P.,
Ceuterick C.,
De Vriendt E.,
Lofgren A.,
Nelis E.,
Warner L.E.,
Lupski J.R.,
Martin J.-J.,
Van Broeckhoven C.;
"Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.";
Neurology 52:1827-1832(1999).
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[12]
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VARIANT CMT1D HIS-381.
PubMed=10762521 [NCBI, ExPASy, EBI, Israel, Japan]
Pareyson D.,
Taroni F.,
Botti S.,
Morbin M.,
Baratta S.,
Lauria G.,
Ciano C.,
Sghirlanzoni A.;
"Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation.";
Neurology 54:1696-1698(2000).
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[13]
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VARIANT CMT1D CYS-381.
DOI=10.1016/S0022-510X(00)00504-9; PubMed=11239949 [NCBI, ExPASy, EBI, Israel, Japan]
Yoshihara T.,
Kanda F.,
Yamamoto M.,
Ishihara H.,
Misu K.,
Hattori N.,
Chihara K.,
Sobue G.;
"A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot-Marie-Tooth disease type 1.";
J. Neurol. Sci. 184:149-153(2001).
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[14]
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VARIANT CMT1D TYR-383.
DOI=10.1016/S0022-510X(03)00028-5; PubMed=12736090 [NCBI, ExPASy, EBI, Israel, Japan]
Numakura C.,
Shirahata E.,
Yamashita S.,
Kanai M.,
Kijima K.,
Matsuki T.,
Hayasaka K.;
"Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1.";
J. Neurol. Sci. 210:61-64(2003).
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[15]
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VARIANT CMT1D TRP-359.
DOI=10.1002/humu.9261; PubMed=15241803 [NCBI, ExPASy, EBI, Israel, Japan]
Choi B.-O.,
Lee M.S.,
Shin S.H.,
Hwang J.H.,
Choi K.-G.,
Kim W.-K.,
Sunwoo I.N.,
Kim N.K.,
Chung K.W.;
"Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.";
Hum. Mutat. 24:185-186(2004).
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[16]
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VARIANT CMT1D TRP-359.
DOI=10.1007/s10048-005-0217-4; PubMed=15947997 [NCBI, ExPASy, EBI, Israel, Japan]
Chung K.W.,
Sunwoo I.N.,
Kim S.M.,
Park K.D.,
Kim W.-K.,
Kim T.S.,
Koo H.,
Cho M.,
Lee J.,
Choi B.O.;
"Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.";
Neurogenetics 6:159-163(2005).
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