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Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders.
[hirschsprung disease]
The
skeleton
affords
a
framework
and
structural
support
for
vertebrates
,
while
also
facilitating
movement
,
protecting
vital
organs
,
and
providing
a
reservoir
of
minerals
and
cells
for
immune
system
and
vascular
homeostasis
.
The
mechanical
and
biological
functions
of
the
skeleton
are
inextricably
linked
to
the
size
and
shape
of
individual
bones
,
the
diversity
of
which
is
dependent
in
part
upon
differential
growth
and
proliferation
.
Perturbation
of
bone
development
,
growth
and
proliferation
,
can
result
in
congenital
skeletal
anomalies
,
which
affect
approximately
1
in
3000
live
births
[
1
]
.
Ribosome
biogenesis
is
integral
to
all
cell
growth
and
proliferation
through
its
roles
in
translating
mRNAs
and
building
proteins
.
Disruption
of
any
steps
in
the
process
of
ribosome
biogenesis
can
lead
to
congenital
disorders
termed
ribosomopathies
.
In
this
review
,
we
discuss
the
role
of
ribosome
biogenesis
in
skeletal
development
and
in
the
pathogenesis
of
congenital
skeletal
anomalies
.
This
article
is
part
of
a
Special
Issue
entitled
:
Role
of
the
Nucleolus
in
Human
Disease
.
Diseases
Validation
Diseases presenting
"skeletal development"
symptom
22q11.2 deletion syndrome
achondroplasia
aromatase deficiency
hirschsprung disease
holt-oram syndrome
oligodontia
wolf-hirschhorn syndrome
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