Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0022568 (
keratitis
)
5,133
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
EGR1
is an early growth response zinc finger transcription factor with broad actions, including in differentiation, mitogenesis, tumor suppression, and neuronal plasticity. Here we demonstrate that
Egr1
-/-
mice on the C57BL/6 background have normal eyelid development, but back-crossing to BALB/c background for four or five generations resulted in defective eyelid development by day E15.5, at which time
EGR1
was expressed in eyelids of WT mice. Defective eyelid formation correlated with profound ocular anomalies evident by postnatal days 1-4, including severe cryptophthalmos, microphthalmia or anophthalmia, retinal dysplasia,
keratitis
, corneal neovascularization, cataracts, and calcification. The BALB/c albino phenotype-associated
Tyr
c
tyrosinase mutation appeared to contribute to the phenotype, because crossing the independent
Tyr
c-2J
allele to
Egr1
-/-
C57BL/6 mice also produced ocular abnormalities, albeit less severe than those in
Egr1
-/-
BALB/c mice. Thus
EGR1
, in a genetic background-dependent manner, plays a critical role in mammalian eyelid development and closure, with subsequent impact on ocular integrity.
...
PMID:Genetic background-dependent role of
Egr1
for eyelid development. 2877 95
