Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"heart disease"
symptom
22q11.2 deletion syndrome
achondroplasia
acute rheumatic fever
adrenal incidentaloma
child syndrome
classical phenylketonuria
cohen syndrome
congenital diaphragmatic hernia
dentinogenesis imperfecta
esophageal adenocarcinoma
fabry disease
familial mediterranean fever
heparin-induced thrombocytopenia
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
kabuki syndrome
monosomy 21
omenn syndrome
phenylketonuria
sneddon syndrome
systemic capillary leak syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom