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A random Abstract
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Toward postnatal reversal of ocular congenital malformations.
[aniridia]
Aniridia
is
a
panocular
disorder
that
severely
affects
vision
in
early
life
.
Most
cases
are
caused
by
dominantly
inherited
mutations
or
deletions
of
the
PAX
6
gene
,
which
encodes
a
transcription
factor
that
is
essential
for
the
development
of
the
eye
and
the
central
nervous
system
.
In
this
issue
of
the
JCI
,
Gregory
-
Evans
and
colleagues
demonstrate
that
early
postnatal
topical
administration
of
an
ataluren-based
formulation
reverses
congenital
malformations
in
the
postnatal
mouse
eye
,
providing
evidence
that
manipulation
of
PAX
6
after
birth
may
lead
to
corrective
tissue
remodeling
.
These
findings
offer
hope
that
ataluren
administration
could
be
a
therapeutic
paradigm
applicable
to
some
major
congenital
eye
defects
.
Diseases
Validation
Diseases presenting
"early life"
symptom
aniridia
benign recurrent intrahepatic cholestasis
cystinuria
phenylketonuria
proteus syndrome
zellweger syndrome
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