Rare Diseases Symptoms Automatic Extraction
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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
"neonatal period"
symptom
alexander disease
alpha-thalassemia
benign recurrent intrahepatic cholestasis
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cutaneous mastocytosis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
harlequin ichthyosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neonatal adrenoleukodystrophy
neuralgic amyotrophy
pyruvate dehydrogenase deficiency
zellweger syndrome
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