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A mouse model of generalized non-Herlitz junctional epidermolysis bullosa.
[junctional epidermolysis bullosa]
Epidermolysis
bullosa
(
EB
)
is
a
class
of
intractable
,
rare
,
genetic
disorders
characterized
by
fragile
skin
and
blister
formation
as
a
result
of
dermal-epidermal
mechanical
instability
.
EB
presents
with
considerable
clinical
and
molecular
heterogeneity
.
Viable
animal
models
of
junctional
EB
(
JEB
)
,
that
both
mimic
the
human
disease
and
survive
beyond
the
neonatal
period
,
are
needed
.
We
identified
a
spontaneous
,
autosomal
recessive
mutation
(
Lamc
2
(
jeb
)
)
due
to
a
murine
leukemia
virus
long
terminal
repeat
insertion
in
Lamc
2
(
laminin
gamma
2
gene
)
that
results
in
a
hypomorphic
allele
with
reduced
levels
of
LAMC
2
protein
.
These
mutant
mice
develop
a
progressive
blistering
disease
validated
at
the
gross
and
microscopic
levels
to
closely
resemble
generalized
non-
Herlitz
JEB
.
The
Lamc
2
(
jeb
)
mice
display
additional
extracutaneous
features
such
as
loss
of
bone
mineralization
and
abnormal
teeth
,
as
well
as
a
respiratory
phenotype
that
is
recognized
but
not
as
well
characterized
in
humans
.
This
model
faithfully
recapitulates
human
JEB
and
provides
an
important
preclinical
tool
to
test
therapeutic
approaches
.
Diseases
Validation
Diseases presenting
"are needed"
symptom
junctional epidermolysis bullosa
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