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Gene expression analysis of an epidermolysis bullosa simplex Dowling-Meara cell line by subtractive hybridization: recapitulation of cellular differentiation, migration and wound healing.
[epidermolysis bullosa simplex]
An
intact
keratin
5
/
keratin
14
intermediate
filament
cytoskeleton
is
vital
for
the
integrity
of
basal
keratinocytes
and
for
the
development
and
maintenance
of
epidermal
structures
.
In
patients
with
epidermolysis
bullosa
simplex
Dowling-
Meara
(
EBS
-
DM
)
,
heterozygous
mutations
in
the
keratin
14
gene
in
keratinocytes
cause
a
cytoskeletal
collapse
leading
to
fragile
cells
susceptible
to
cellular
stress
.
The
primary
aim
of
this
work
was
to
extend
analysis
of
differentially
expressed
genes
in
an
EBS
-
DM
model
cell
line
to
obtain
insights
into
the
molecular
consequences
resulting
from
the
keratin
14
mutation
.
In
a
first
step
,
suppression
subtractive
hybridization
(
SSH
)
,
a
powerful
technology
to
enrich
for
differentially
expressed
genes
,
was
used
to
identify
genes
whose
up-regulation
may
be
a
direct
or
indirect
result
of
the
keratin
14
mutation
,
R
125
P
.
We
discovered
55
candidate
genes
(
SSH
genes
)
that
were
further
analysed
by
RTq-PCR
.
Of
the
55
SSH
genes
,
14
(
25
.
45
%
)
were
found
to
be
congruently
up-regulated
.
Bioinformatic
analysis
revealed
significant
enrichment
of
genes
regulating
epidermal
development
,
migration
,
apoptosis
and
wound
healing
.
Diseases
Validation
Diseases presenting
"differentially expressed genes"
symptom
canavan disease
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
esophageal squamous cell carcinoma
hirschsprung disease
hodgkin lymphoma, classical
kallmann syndrome
x-linked adrenoleukodystrophy
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