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Epidermolysis bullosa - a group of skin diseases with different causes but commonalities in gene expression.
[junctional epidermolysis bullosa]
Epidermolysis
bullosa
(
EB
)
is
a
group
of
hereditary
skin
disorders
.
Although
each
subtype
is
caused
by
mutations
in
genes
encoding
differentially
located
components
of
the
skin
,
the
resulting
phenotype
is
similar
.
In
this
study
,
we
investigated
similarities
in
the
gene
expression
profiles
of
each
subtype
on
mRNA
level
.
Type
XVI
collagen
(
COL
16
A
1
)
,
G
0
/
G
1
switch
2
(
G
0
S
2
)
,
fibronectin
(
FN
1
)
,
ribosomal
protein
S
2
7
A
(
RPS
27
A
)
and
low
density
lipoprotein
receptor
(
LDLR
)
were
shown
to
exhibit
corresponding
changes
in
gene
expression
in
all
three
EB
subtypes
.
While
COL
16
A
1
,
G
0
S
2
and
FN
1
are
up-regulated
,
LDLR
and
RPS
27
A
mRNA
levels
are
decreased
.
These
data
indicate
that
EB
cells
seem
to
take
measures
increasing
their
mechanical
stability
.
Apoptosis
is
likely
to
be
exacerbated
,
and
migratory
potential
appears
to
be
elevated
.
Protein
degradation
is
hampered
,
and
the
release
of
fatty
acids
and
glycerol
is
restricted
,
probably
to
save
energy
.
These
commonalities
might
benefit
existing
EB
treatment
strategies
or
could
help
to
reveal
new
starting
points
for
the
treatment
of
EB
in
the
future
.
Diseases
Validation
Diseases presenting
"skin disorders"
symptom
carcinoma of the gallbladder
cutaneous mastocytosis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erythropoietic protoporphyria
harlequin ichthyosis
junctional epidermolysis bullosa
kindler syndrome
lamellar ichthyosis
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