|
Hereditary Motor and Sensory Neuropathy Type I
|
0.160 |
CausalMutation
|
disease |
CLINVAR |
EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome.
|
27159987 |
2016 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
0.160 |
CausalMutation
|
disease |
CLINVAR |
Survey of variation in human transcription factors reveals prevalent DNA binding changes.
|
27013732 |
2016 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
0.160 |
CausalMutation
|
disease |
CLINVAR |
The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.
|
26204789 |
2015 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
0.160 |
CausalMutation
|
disease |
CLINVAR |
The modifying effect a PMP22 deletion in a family with Charcot-Marie-Tooth type 1 neuropathy due to an EGR2 mutation.
|
25720245 |
2014 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
0.160 |
CausalMutation
|
disease |
CLINVAR |
Mutational analysis of PMP22, EGR2, LITAF and NEFL in Greek Charcot-Marie-Tooth type 1 patients.
|
22765307 |
2013 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
0.160 |
CausalMutation
|
disease |
CLINVAR |
Adult onset Charcot-Marie-Tooth disease type 1D with an Arg381Cys mutation of EGR2.
|
20513111 |
2010 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
0.160 |
CausalMutation
|
disease |
CLINVAR |
Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.
|
17717711 |
2007 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
0.160 |
CausalMutation
|
disease |
CLINVAR |
Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis.
|
16198564 |
2005 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
0.160 |
CausalMutation
|
disease |
CLINVAR |
Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.
|
15947997 |
2005 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
0.160 |
GeneticVariation
|
disease |
BEFREE |
EGR2 mutation is rare cause of CMT1 in Japan as in other nations.
|
12736090 |
2003 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
0.160 |
CausalMutation
|
disease |
CLINVAR |
Different consequences of EGR2 mutants on the transactivation of human Cx32 promoter.
|
12609493 |
2003 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
0.160 |
CausalMutation
|
disease |
CLINVAR |
Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies.
|
12471219 |
2002 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
0.160 |
GeneticVariation
|
disease |
BEFREE |
Dominant and recessive mutations in EGR2 are associated with peripheral myelinopathies, such as Charcot-Marie-Tooth disease type 1, Dejerine-Sottas syndrome, and congenital hypomyelinating neuropathy.
|
12030330 |
2002 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
0.160 |
CausalMutation
|
disease |
CLINVAR |
EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy.
|
11523566 |
2001 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
0.160 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in the early growth response gene 2 (EGR2), which encodes a zinc-finger transcription factor that regulates the late stages of myelination, cause myelinopathies including congenital hypomyelinating neuropathy, Dejerine-Sottas neuropathy (DSN), and Charcot-Marie-Tooth disease type 1.
|
11523566 |
2001 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
0.160 |
CausalMutation
|
disease |
CLINVAR |
A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot--Marie--Tooth disease type 1.
|
11239949 |
2001 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
0.160 |
GeneticVariation
|
disease |
BEFREE |
This is the first report of the EGR2 mutation presenting a late onset of CMT1 phenotype.
|
11239949 |
2001 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
0.160 |
GeneticVariation
|
disease |
BEFREE |
Charcot-Marie-Tooth disease type 1 (CMT1) is caused by mutations in the peripheral myelin protein, 22 kDa (PMP22) gene, protein zero (P0) gene, early growth response gene 2 (EGR-2) and connexin-32 gene, which are expressed in Schwann cells, the myelinating cells of the peripheral nervous system.
|
10648431 |
2000 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
0.160 |
CausalMutation
|
disease |
CLINVAR |
Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation.
|
10762521 |
2000 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
0.160 |
CausalMutation
|
disease |
CLINVAR |
Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.
|
10369870 |
1999 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
0.160 |
Biomarker
|
disease |
BEFREE |
Three loci for autosomal dominant hereditary motor and sensory neuropathy type I (HMSN I) or Charcot-Marie-Tooth disease type 1 (CMT1) have been identified on chromosomes 17p11.2 (CMT1A), 1q21-q23 (CMT1B), and 10q21.1-q22.1 (designated here as CMT1D).
|
10520946 |
1999 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
0.160 |
CausalMutation
|
disease |
CLINVAR |
Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.
|
10371530 |
1999 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
0.160 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.
|
9537424 |
1998 |
|
Hereditary Motor and Sensory Neuropathy Type I
|
0.160 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|