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The cysteine-rich region and the whey acidic protein domain are essential for anosmin-1 biological functions.
[kallmann syndrome]
The
protein
anosmin-
1
,
coded
by
the
KAL
1
gene
responsible
for
the
X-
linked
form
of
Kallmann
syndrome
(
KS
)
,
exerts
its
biological
effects
mainly
through
the
interaction
with
and
signal
modulation
of
fibroblast
growth
factor
receptor
1
(
FGFR
1
)
.
We
have
previously
shown
the
interaction
of
the
third
fibronectin-like
type
3
(
FnIII
)
domain
and
the
N-
terminal
region
of
anosmin-
1
with
FGFR
1
.
Here
,
we
demonstrate
that
missense
mutations
reported
in
patients
with
KS
,
C
172
R
and
N
267
K
did
not
alter
or
substantially
reduce
,
respectively
,
the
binding
to
FGFR
1
.
These
substitutions
annulled
the
chemoattraction
of
the
full-length
protein
over
subventricular
zone
(
SVZ
)
neuronal
precursors
(
NPs
)
,
but
they
did
not
annul
it
in
the
N-
terminal-truncated
protein
(
A
1
Nt
)
.
We
also
show
that
although
not
essential
for
binding
to
FGFR
1
,
the
cysteine-rich
(
CR
)
region
is
necessary
for
anosmin-
1
function
and
that
FnIII
.
3
can
not
substitute
for
FnIII
.
1
function
.
Truncated
proteins
recapitulating
nonsense
mutations
found
in
KS
patients
did
not
show
the
chemotropic
effect
on
SVZ
NPs
,
suggesting
that
the
presence
behind
FnIII
.
1
of
any
part
of
anosmin-
1
produces
an
unstable
protein
incapable
of
action
.
We
also
identify
the
extracellular
signal-regulated
kinase
1
/
2
(
ERK
1
/
2
)
pathway
as
necessary
for
the
chemotropic
effect
exerted
by
FGF
2
and
anosmin-
1
on
rat
SVZ
NPs
.
Diseases
Validation
Diseases presenting
"growth factor receptor"
symptom
achondroplasia
aromatase deficiency
cholangiocarcinoma
dedifferentiated liposarcoma
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
kallmann syndrome
lymphangioleiomyomatosis
oral submucous fibrosis
proteus syndrome
severe combined immunodeficiency
wiskott-aldrich syndrome
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