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Direct assessment of the effect of the Gly380Arg achondroplasia mutation on FGFR3 dimerization using quantitative imaging FRET.
[achondroplasia]
The
Gly
380
A
rg
mutation
in
FGFR
3
is
the
genetic
cause
for
achondroplasia
(
ACH
)
,
the
most
common
form
of
human
dwarfism
.
The
mutation
has
been
proposed
to
increase
FGFR
3
dimerization
,
but
the
dimerization
propensities
of
wild-
type
and
mutant
FGFR
3
have
not
been
compared
.
Here
we
use
quantitative
imaging
FRET
to
characterize
the
dimerization
of
wild-
type
FGFR
3
and
the
ACH
mutant
in
plasma
membrane-derived
vesicles
from
HEK
293
T
cells
.
We
demonstrate
a
small
,
but
statistically
significant
increase
in
FGFR
3
dimerization
due
to
the
ACH
mutation
.
The
data
are
consistent
with
the
idea
that
the
ACH
mutation
causes
a
structural
change
which
affects
both
the
stability
and
the
activity
of
FGFR
3
dimers
in
the
absence
of
ligand
.
Diseases
Validation
Diseases presenting
"common form"
symptom
achondroplasia
alexander disease
benign recurrent intrahepatic cholestasis
cadasil
child syndrome
classical phenylketonuria
cutaneous mastocytosis
erythropoietic protoporphyria
familial mediterranean fever
hereditary cerebral hemorrhage with amyloidosis
hodgkin lymphoma, classical
holt-oram syndrome
homocystinuria without methylmalonic aciduria
oral submucous fibrosis
pendred syndrome
primary hyperoxaluria type 1
severe combined immunodeficiency
thoracic outlet syndrome
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