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Tbx1 modulates endodermal and mesodermal differentiation from mouse induced pluripotent stem cells.
[22q11.2 deletion syndrome]
The
T
-
box
transcriptional
factor
(
Tbx
)
family
of
transcriptional
factors
has
distinct
roles
in
a
wide
range
of
embryonic
differentiation
or
response
pathways
.
Tbx
1
,
a
T
-
box
transcription
factor
,
is
an
important
gene
for
the
human
congenital
disorder
22
q
11
.
2
deletion
syndrome
.
Induced
pluripotent
stem
cell
(
iPSC
)
technology
offers
new
opportunities
for
both
elucidation
of
the
pathogenesis
of
diseases
and
the
development
of
stem-cell-based
therapies
.
In
this
study
,
we
generated
iPSCs
from
Tbx
1
(
-
/
-
)
and
Tbx
1
(
+
/
+
)
fibroblasts
and
investigated
the
spontaneous
differentiation
potential
of
iPSCs
by
detailed
lineage
analysis
of
the
iPSC-derived
embryoid
bodies
.
Undifferentiated
Tbx
1
(
-
/
-
)
and
Tbx
1
(
+
/
+
)
iPSCs
showed
similar
expression
levels
of
pluripotent
markers
.
The
ability
of
the
Tbx
1
(
-
/
-
)
iPSCs
to
generate
endodermal
and
mesodermal
lineages
was
compromised
upon
spontaneous
differentiation
into
embryonic
bodies
.
Restoration
of
Tbx
1
expression
in
the
Tbx
1
(
-
/
-
)
iPSCs
to
normal
levels
using
an
inducible
lentiviral
system
rescued
these
cells
from
the
potential
of
defective
differentiation
.
Interestingly
,
overexpression
of
Tbx
1
in
the
Tbx
1
(
-
/
-
)
iPSCs
to
higher
levels
than
in
the
Tbx
1
(
+
/
+
)
iPSCs
again
led
to
a
defective
differentiation
potential
.
Additionally
,
we
observed
that
expression
of
fibroblast
growth
factor
(
FGF
)
10
and
FGF
8
was
downregulated
in
the
Tbx
1
(
-
/
-
)
iPSC-derived
cells
,
which
suggests
that
Tbx
1
regulates
the
expression
of
FGFs
.
Taken
together
,
our
results
implicated
the
Tbx
1
level
as
an
important
determinant
of
endodermal
and
mesodermal
lineage
differentiation
during
embryonic
development
.
Diseases
Validation
Diseases presenting
"wide range"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
adrenomyeloneuropathy
alexander disease
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
carcinoma of the gallbladder
congenital toxoplasmosis
cowden syndrome
cystinuria
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
fabry disease
gm1 gangliosidosis
harlequin ichthyosis
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
legionellosis
neonatal adrenoleukodystrophy
oral submucous fibrosis
pendred syndrome
phenylketonuria
pleomorphic liposarcoma
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
scrub typhus
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
trochlear dysplasia
well-differentiated liposarcoma
werner syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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