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A random Abstract
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Our Team
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
"central nervous system"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
aniridia
aromatase deficiency
canavan disease
child syndrome
classical phenylketonuria
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cystinuria
dracunculiasis
erdheim-chester disease
fabry disease
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
legionellosis
liposarcoma
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
phenylketonuria
proteus syndrome
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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