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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
EGR2
gene.
Dubourg O, Azzedine H, Verny C, Durosier G, Birouk N, Gouider R, Salih M, Bouhouche A, Thiam A, Grid D, Mayer M, Ruberg M, Tazir M, Brice A, LeGuern E. Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease. Neuromolecular Med. 2006;8(1-2):75-86. Review.
PubMed citation
Entrez
Gene
Leblanc SE, Srinivasan R, Ferri C, Mager GM, Gillian-Daniel AL, Wrabetz L, Svaren J. Regulation of cholesterol/lipid biosynthetic genes by Egr2/Krox20 during peripheral nerve myelination. J Neurochem. 2005 May;93(3):737-48.
PubMed citation
Musso M, Balestra P, Taroni F, Bellone E, Mandich P. Different consequences of EGR2 mutants on the transactivation of human Cx32 promoter. Neurobiol Dis. 2003 Feb;12(1):89-95.
PubMed citation
Niemann A, Berger P, Suter U. Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease. Neuromolecular Med. 2006;8(1-2):217-42. Review.
PubMed citation
Szigeti K, Wiszniewski W, Saifi GM, Sherman DL, Sule N, Adesina AM, Mancias P, Papasozomenos SCh, Miller G, Keppen L, Daentl D, Brophy PJ, Lupski JR. Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations. Neurogenetics. 2007 Nov;8(4):257-62. Epub 2007 Aug 24.
PubMed citation
Warner LE, Svaren J, Milbrandt J, Lupski JR. Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. Hum Mol Genet. 1999 Jul;8(7):1245-51.
PubMed citation
Young P, Suter U. The causes of Charcot-Marie-Tooth disease. Cell Mol Life Sci. 2003 Dec;60(12):2547-60. Review.
PubMed citation
Reviewed: January 2010
Published: May 20, 2013