Rare Diseases Symptoms Automatic Extraction
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ATRX is required for maintenance of the neuroprogenitor cell pool in the embryonic mouse brain.
[alpha-thalassemia]
Mutations
in
the
alpha-thalassemia
mental
retardation
X-
linked
(
ATRX
)
gene
cause
a
spectrum
of
abnormalities
including
intellectual
disability
,
developmental
delay
,
seizures
,
and
microcephaly
.
The
ATRX
protein
is
highly
enriched
at
heterochromatic
repetitive
sequences
adjacent
to
the
centromere
,
and
ATRX
depletion
results
in
chromosome
congression
,
segregation
,
and
cohesion
defects
.
Here
,
we
show
that
Cre-mediated
inactivation
of
Atrx
in
the
embryonic
mouse
(
Mus
musculus
)
brain
results
in
expansion
of
cerebral
cortical
layer
VI
,
and
a
concurrent
thinning
of
layers
II
-IV
.
We
observed
increased
cell
cycle
exit
during
early
-mid
neurogenesis
,
and
a
depletion
of
apical
progenitors
by
late
neurogenesis
in
the
Atrx-null
neocortex
,
explaining
the
disproportionate
layering
.
Premature
differentiation
was
associated
with
an
increased
generation
of
outer
radial
glia
(
oRG
)
and
TBR
2
-
expressing
basal
progenitors
,
as
well
as
increased
generation
of
early
-born
post-mitotic
projection
neurons
.
Atrx
deletion
also
reduced
the
fidelity
of
mitotic
spindle
orientation
in
apical
progenitors
,
where
mutant
cells
were
often
oriented
at
non-parallel
angles
of
division
relative
to
the
ventricular
surface
.
We
conclude
that
ATRX
is
required
for
correct
lamination
of
the
mouse
neocortex
by
regulating
the
timing
of
neuroprogenitor
cell
differentiation
.
Diseases
Validation
Diseases presenting
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated