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Article

Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.

Human molecular genetics - 1 Jul 1999

Warner L E, Svaren J, Milbrandt J, Lupski J R

Abstract excerpt

The early growth response 2 gene ( EGR2 ) is a Cys2His2zinc finger transcription factor which is thought to play a role in the regulation of peripheral nervous system myelination. This idea is based partly on the phenotype of homozygous Krox20 ( Egr2 ) knockout mice, which display hypomyelination of the PNS and a block of Schwann cells at an early stage of differentiation. Mutations in the human EGR2 gene have...

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Source

Identifiers

PMID: 10369870
DOI: 10.1093/hmg/8.7.1245

Genes

EGR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.PMID 10369870Read ↗

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Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies.Semantic proximity Read ↗

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Nab proteins are essential for peripheral nervous system myelination.Semantic proximity Read ↗

A double point mutation in the DNA-binding region of Egr2 switches its function from inhibition to induction of proliferation: A potential contribution to the development of congenital hypomyelinating neuropathy.Semantic proximity Read ↗

Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.Semantic proximity Read ↗

A Novel Mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 diseaseSemantic proximity Read ↗

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