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A heart-hand syndrome gene: Tfap2b plays a critical role in the development and remodeling of mouse ductus arteriosus and limb patterning.
[holt-oram syndrome]
Patent
ductus
arteriosus
(
PDA
)
is
one
of
the
most
common
forms
of
congenital
heart
disease
.
Mutations
in
transcription
factor
TFAP
2
B
cause
Char
syndrome
,
a
human
disorder
characterized
by
PDA
,
facial
dysmorphysm
and
hand
anomalies
.
Animal
research
data
are
needed
to
understand
the
mechanisms
.
The
aim
of
our
study
was
to
elucidate
the
pathogenesis
of
Char
syndrome
at
the
molecular
level
.
Gene
expression
of
Tfap
2
b
during
mouse
development
was
studied
,
and
newborns
of
Tfap
2
b
-
deficient
mice
were
examined
to
identify
phenotypes
.
Gel
shift
assays
had
been
carried
out
to
search
for
Tfap
2
downstream
genes
.
Promoters
of
candidate
genes
were
cloned
into
a
reporter
construct
and
used
to
demonstrate
their
regulation
by
Tfap
2
b
in
cell
transfection
.
In
situ
hybridizations
showed
that
the
murine
transcription
factor
Tfap
2
b
was
expressed
during
the
entire
development
of
mouse
ductus
arteriosus
.
Histological
examination
of
ductus
arteriosus
from
Tfap
2
b
knockout
mice
6
hours
after
birth
revealed
that
they
were
not
closed
.
Consequently
,
the
lungs
of
Tfap
2
b
(
-
/
-
)
mice
demonstrated
progressive
congestion
of
the
pulmonary
capillaries
,
which
was
postulated
to
result
secondarily
from
PDA
.
In
addition
,
Tfap
2
b
was
expressed
in
the
limb
buds
,
particularly
in
the
posterior
limb
field
during
development
.
Lack
of
Tfap
2
b
resulted
in
bilateral
postaxial
accessory
digits
.
Further
study
indicated
that
expressions
of
bone
morphogenetic
protein
(
Bmp
)
genes
,
which
are
reported
to
be
involved
in
the
limb
patterning
and
ductal
development
,
were
altered
in
limb
buds
of
Tfap
2
b
-
deficient
embryos
,
due
to
direct
control
of
Bmp
2
and
Bmp
4
promoter
activity
by
Tfap
2
b
.
Tfap
2
b
plays
important
roles
in
the
development
of
mouse
ductus
arteriosus
and
limb
patterning
.
Loss
of
Tfap
2
b
results
in
altered
Bmp
expression
that
may
cause
the
heart
-
limb
defects
observed
in
Tfap
2
b
mouse
mutants
and
Char
syndrome
patients
.
The
Tfap
2
b
knockout
mouse
may
add
to
the
very
limited
available
animal
models
of
PDA
.
Diseases
Validation
Diseases presenting
"that expressions of bone morphogenetic protein"
symptom
holt-oram syndrome
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