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MMP-9 and CXCL8/IL-8 are potential therapeutic targets in epidermolysis bullosa simplex.
[epidermolysis bullosa simplex]
Epidermolysis
bullosa
refers
to
a
group
of
genodermatoses
that
affects
the
integrity
of
epithelial
layers
,
phenotypically
resulting
in
severe
skin
blistering
.
Dowling-
Meara
,
the
major
subtype
of
epidermolysis
bullosa
simplex
,
is
inherited
in
an
autosomal
dominant
manner
and
can
be
caused
by
mutations
in
either
the
keratin-
5
(
K
5
)
or
the
keratin-
14
(
K
14
)
gene
.
Currently
,
no
therapeutic
approach
is
known
,
and
the
main
objective
of
this
study
was
to
identify
novel
therapeutic
targets
.
We
used
microarray
analysis
,
semi-quantitative
real-time
PCR
,
western
blot
and
ELISA
to
identify
differentially
regulated
genes
in
two
K
14
mutant
cell
lines
carrying
the
mutations
K
14
R
125
P
and
K
14
R
125
H
,
respectively
.
We
found
kallikrein-related
peptidases
and
matrix
metalloproteinases
to
be
upregulated
.
We
also
found
elevated
expression
of
chemokines
,
and
we
observed
deregulation
of
the
Cdc
42
pathway
as
well
as
aberrant
expression
of
cytokeratins
and
junction
proteins
.
We
further
demonstrated
,
that
expression
of
these
genes
is
dependent
on
interleukin-
1
β
signaling
.
To
evaluate
these
data
in
vivo
we
analysed
the
blister
fluids
of
epidermolysis
bullosa
simplex
patients
vs
.
healthy
controls
and
identified
matrix
metalloproteinase-
9
and
the
chemokine
CXCL
8
/
IL
-
8
as
potential
therapeutic
targets
.
Diseases
Validation
Diseases presenting
"elevated expression"
symptom
epidermolysis bullosa simplex
esophageal squamous cell carcinoma
krabbe disease
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