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Expression of the keratinocyte lipid transporter ABCA12 in developing and reconstituted human epidermis.
[harlequin ichthyosis]
Serious
defects
in
the
epidermal
keratinocyte
lipid
transporter
ABCA
12
are
known
to
result
in
a
deficient
skin
lipid
barrier
,
leading
to
harlequin
ichthyosis
(
HI
)
.
HI
is
the
most
severe
inherited
keratinizing
disorder
and
is
frequently
fatal
in
the
perinatal
period
.
To
clarify
the
role
of
ABCA
12
,
ABCA
12
expression
was
studied
in
developing
human
skin
and
HI
lesions
artificially
reconstituted
in
immunodeficient
mice
.
By
immunofluorescent
study
,
ABCA
12
was
expressed
in
the
periderm
of
the
early
stage
two
-layered
human
fetal
epidermis
.
After
formation
of
a
three
-layered
epidermis
,
ABCA
12
staining
was
seen
throughout
the
entire
epidermis
.
ABCA
12
mRNA
expression
significantly
increased
during
human
skin
development
and
reached
62
%
of
the
expression
in
normal
adult
skin
,
whereas
the
expression
rate
of
transglutaminase
1
,
loricrin
,
and
kallikrein
7
remained
low
.
We
transplanted
keratinocytes
from
patients
with
HI
and
succeeded
in
reconstituting
HI
skin
lesions
in
immunodeficient
mice
.
The
reconstituted
lesions
showed
similar
changes
to
those
of
patients
with
HI
.
Our
findings
demonstrate
that
ABCA
12
is
highly
expressed
in
fetal
skin
and
suggest
that
ABCA
12
may
play
an
essential
role
under
both
the
wet
and
dry
conditions
,
including
the
dramatic
turning
point
from
a
wet
environment
of
the
amniotic
fluid
to
a
dry
environment
after
birth
.
Diseases
Validation
Diseases presenting
"amniotic fluid"
symptom
aniridia
canavan disease
congenital toxoplasmosis
harlequin ichthyosis
homocystinuria without methylmalonic aciduria
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
oculocutaneous albinism
zellweger syndrome
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