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Distinguishing ichthyoses by protein profiling.
[lamellar ichthyosis]
To
explore
the
usefulness
of
protein
profiling
for
characterization
of
ichthyoses
,
we
here
determined
the
profile
of
human
epidermal
stratum
corneum
by
shotgun
proteomics
.
Samples
were
analyzed
after
collection
on
tape
circles
from
six
anatomic
sites
(
forearm
,
palm
,
lower
leg
,
forehead
,
abdomen
,
upper
back
)
,
demonstrating
site-
specific
differences
in
profiles
.
Additional
samples
were
collected
from
the
forearms
of
subjects
with
ichthyosis
vulgaris
(
filaggrin
(
FLG
)
deficiency
)
,
recessive
X-
linked
ichthyosis
(
steroid
sulfatase
(
STS
)
deficiency
)
and
autosomal
recessive
congenital
ichthyosis
type
lamellar
ichthyosis
(
transglutaminase
1
(
TGM
1
)
deficiency
)
.
The
ichthyosis
protein
expression
patterns
were
readily
distinguishable
from
each
other
and
from
phenotypically
normal
epidermis
.
In
general
,
the
degree
of
departure
from
normal
was
lower
from
ichthyosis
vulgaris
than
from
lamellar
ichthyosis
,
parallel
to
the
severity
of
the
phenotype
.
Analysis
of
samples
from
families
with
ichthyosis
vulgaris
and
concomitant
modifying
gene
mutations
(
STS
deficiency
,
GJB
2
deficiency
)
permitted
correlation
of
alterations
in
protein
profile
with
more
complex
genetic
constellations
.
Diseases
Validation
Diseases presenting
"gjb2 deficiency"
symptom
lamellar ichthyosis
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