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The paradox of FGFR3 signaling in skeletal dysplasia: why chondrocytes growth arrest while other cells over proliferate.
[achondroplasia]
Somatic
mutations
in
receptor
tyrosine
kinase
FGFR
3
cause
excessive
cell
proliferation
,
leading
to
cancer
or
skin
overgrowth
.
Remarkably
,
the
same
mutations
inhibit
chondrocyte
proliferation
and
differentiation
in
developing
bones
,
resulting
in
skeletal
dysplasias
,
such
as
hypochondroplasia
,
achondroplasia
,
SADDAN
and
thanatophoric
dysplasia
.
A
similar
phenotype
is
observed
in
Noonan
syndrome
,
Leopard
syndrome
,
hereditary
gingival
fibromatosis
,
neurofibromatosis
type
1
,
Costello
syndrome
,
Legius
syndrome
and
cardiofaciocutaneous
syndrome
.
Collectively
termed
RASopathies
,
the
latter
syndromes
are
caused
by
germline
mutations
in
components
of
the
RAS
/
ERK
MAP
kinase
signaling
pathway
.
This
article
considers
the
evidence
suggesting
that
FGFR
3
activation
in
chondrocytes
mimics
the
activation
of
major
oncogenes
signaling
via
the
ERK
pathway
.
Subsequent
inhibition
of
chondrocyte
proliferation
in
FGFR
3
-
related
skeletal
dysplasias
and
RASopathies
is
proposed
to
result
from
activation
of
defense
mechanisms
that
originally
evolved
to
safeguard
mammalian
organisms
against
cancer
.
Diseases
Validation
Diseases presenting
"neurofibromatosis type 1"
symptom
achondroplasia
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