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Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosis.
[harlequin ichthyosis]
Zebrafish
(
Danio
rerio
)
can
serve
as
a
model
system
to
study
heritable
skin
diseases
.
The
skin
is
rapidly
developed
during
the
first
5
-
6
days
of
embryonic
growth
,
accompanied
by
expression
of
skin
-
specific
genes
.
Transmission
electron
microscopy
(
TEM
)
of
wild-
type
zebrafish
at
day
5
reveals
a
two
-cell-layer
epidermis
separated
from
the
underlying
collagenous
stroma
by
a
basement
membrane
with
fully
developed
hemidesmosomes
.
Scanning
electron
microscopy
(
SEM
)
reveals
an
ordered
surface
contour
of
keratinocytes
with
discrete
microridges
.
To
gain
insight
into
epidermal
morphogenesis
,
we
have
employed
morpholino-mediated
knockdown
of
the
abca
12
and
snap
29
genes
,
which
are
crucial
for
secretion
of
lipids
and
intracellular
trafficking
of
lamellar
granules
,
respectively
.
Morpholinos
,
when
placed
on
exon-intron
junctions
,
were
>
90
%
effective
in
preventing
the
corresponding
gene
expression
when
injected
into
one
-
to
four
-cell-
stage
embryos
.
By
day
3
,
TEM
of
abca
12
morphants
showed
accumulation
of
lipid-containing
electron-
dense
lamellar
granules
,
whereas
snap
29
morphants
showed
the
presence
of
apparently
empty
vesicles
in
the
epidermis
.
Evaluation
of
epidermal
morphogenesis
by
SEM
revealed
similar
perturbations
in
both
cases
in
the
microridge
architecture
and
the
development
of
spicule-like
protrusions
on
the
surface
of
keratinocytes
.
These
morphological
findings
are
akin
to
epidermal
changes
in
harlequin
ichthyosis
and
CEDNIK
syndrome
,
autosomal
recessive
keratinization
disorders
due
to
mutations
in
the
ABCA
12
and
SNAP
29
genes
,
respectively
.
The
results
indicate
that
interference
of
independent
pathways
involving
lipid
transport
in
the
epidermis
can
result
in
phenotypically
similar
perturbations
in
epidermal
morphogenesis
,
and
that
these
fish
mutants
can
serve
as
a
model
to
study
the
pathomechanisms
of
these
keratinization
disorders
.
Diseases
Validation
Diseases presenting
"respectively"
symptom
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
alpha-thalassemia
benign recurrent intrahepatic cholestasis
carcinoma of the gallbladder
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cushing syndrome
cystinuria
dedifferentiated liposarcoma
dentin dysplasia
dentinogenesis imperfecta
epidermolysis bullosa simplex
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
harlequin ichthyosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
kallmann syndrome
lamellar ichthyosis
liposarcoma
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyruvate dehydrogenase deficiency
scrub typhus
triple a syndrome
von hippel-lindau disease
well-differentiated liposarcoma
wolf-hirschhorn syndrome
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