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Keratin 14-null cells as a model to test the efficacy of gene therapy approaches in epithelial cells.
[epidermolysis bullosa simplex]
Skin
fragility
disorders
caused
by
keratin
mutations
are
incurable
,
and
a
better
understanding
of
their
etiology
is
needed
to
find
new
ways
to
improve
and
treat
these
conditions
.
The
best-studied
skin
fragility
disorder
is
epidermolysis
bullosa
simplex
(
EBS
)
,
an
autosomal
dominant
condition
caused
by
mutations
in
keratin
5
(
K
5
)
or
K
14
.
To
analyze
disease
mechanisms
and
develop
gene
therapy
strategies
,
we
have
used
keratinocyte
cell
lines
derived
from
EBS
patients
as
model
systems
.
Here
,
we
describe
two
cell
lines
established
from
EBS
patients
with
K
14
-
null
mutations
.
We
analyze
the
responses
of
these
cells
to
stress
assays
previously
shown
to
discriminate
between
wild-
type
and
keratin-mutant
keratinocytes
,
to
directly
evaluate
the
efficacy
of
rescuing
K
14
-
null
cells
by
supplementation
with
wild-
type
K
14
complementary
DNA
(
cDNA
)
.
The
K
14
-
null
cells
show
elevated
levels
of
stress
correlating
with
reduced
normal
keratin
function
.
By
transfecting
wild-
type
K
14
into
these
cells
,
we
demonstrate
"
proof
of
principle
"
that
an
add-back
approach
can
significantly
rescue
the
normal
keratinocyte
behavior
profile
.
These
K
14
-
null
cell
lines
provide
a
disease
model
for
studying
the
effects
of
keratin
ablation
in
EBS
patients
and
to
test
the
efficacy
of
gene
add-back
and
other
therapy
approaches
in
keratinocytes
.
Diseases
Validation
Diseases presenting
"elevated levels"
symptom
22q11.2 deletion syndrome
adrenal incidentaloma
adrenomyeloneuropathy
alexander disease
aniridia
cadasil
canavan disease
congenital adrenal hyperplasia
epidermolysis bullosa simplex
erythropoietic protoporphyria
esophageal carcinoma
fabry disease
familial hypocalciuric hypercalcemia
hereditary cerebral hemorrhage with amyloidosis
inclusion body myositis
kabuki syndrome
omenn syndrome
phenylketonuria
primary effusion lymphoma
pyruvate dehydrogenase deficiency
scrub typhus
sneddon syndrome
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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