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Keratin 1 maintains skin integrity and participates in an inflammatory network in skin through interleukin-18.
[epidermolysis bullosa simplex]
Keratin
1
(
KRT
1
)
and
its
heterodimer
partner
keratin
10
(
KRT
10
)
are
major
constituents
of
the
intermediate
filament
cytoskeleton
in
suprabasal
epidermis
.
KRT
1
mutations
cause
epidermolytic
ichthyosis
in
humans
,
characterized
by
loss
of
barrier
integrity
and
recurrent
erythema
.
In
search
of
the
largely
unknown
pathomechanisms
and
the
role
of
keratins
in
barrier
formation
and
inflammation
control
,
we
show
here
that
Krt
1
is
crucial
for
maintenance
of
skin
integrity
and
participates
in
an
inflammatory
network
in
murine
keratinocytes
.
Absence
of
Krt
1
caused
a
prenatal
increase
in
interleukin-
18
(
IL
-
18
)
and
the
S
100
A
8
and
S
100
A
9
proteins
,
accompanied
by
a
barrier
defect
and
perinatal
lethality
.
Depletion
of
IL
-
18
partially
rescued
Krt
1
(
-
/
-
)
mice
.
IL
-
18
release
was
keratinocyte-autonomous
,
KRT
1
and
caspase-
1
dependent
,
supporting
an
upstream
role
of
KRT
1
in
the
pathology
.
Finally
,
transcriptome
profiling
revealed
a
Krt
1
-
mediated
gene
expression
signature
similar
to
atopic
eczema
and
psoriasis
,
but
different
from
Krt
5
deficiency
and
epidermolysis
bullosa
simplex
.
Our
data
suggest
a
functional
link
between
KRT
1
and
human
inflammatory
skin
diseases
.
Diseases
Validation
Diseases presenting
"skin diseases"
symptom
cutaneous mastocytosis
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erythropoietic protoporphyria
fabry disease
harlequin ichthyosis
inclusion body myositis
junctional epidermolysis bullosa
kindler syndrome
lamellar ichthyosis
oculocutaneous albinism
papillon-lefèvre syndrome
sneddon syndrome
systemic capillary leak syndrome
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