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Molecular basis for the Kallmann syndrome-linked fibroblast growth factor receptor mutation.
[kallmann syndrome]
Kallmann
syndrome
(
KS
)
is
a
developmental
disease
that
expresses
in
patients
as
hypogonadotropic
hypogonadism
and
anosmia
.
KS
is
commonly
associated
with
mutations
in
the
extracellular
D
2
domain
of
the
fibroblast
growth
factor
receptor
(
FGFR
)
.
In
this
study
,
for
the
first
time
,
the
molecular
basis
for
the
FGFR
associated
KS
mutation
(
A
168
S
)
is
elucidated
using
a
variety
of
biophysical
experiments
,
including
multidimensional
NMR
spectroscopy
.
Secondary
and
tertiary
structural
analysis
using
far
UV
circular
dichroism
,
fluorescence
and
limited
trypsin
digestion
assays
suggest
that
the
KS
mutation
induces
subtle
tertiary
structure
change
in
the
D
2
domain
of
FGFR
.
Results
of
isothermal
titration
calorimetry
experiments
show
the
KS
mutation
causes
a
10
-
fold
decrease
in
heparin
binding
affinity
and
also
a
complete
loss
in
ligand
(
FGF-
1
)
binding
.
(
1
)
H-
(
15
)
N
chemical
perturbation
data
suggest
that
complete
loss
in
the
ligand
(
FGF
)
binding
affinity
is
triggered
by
a
subtle
conformational
change
that
disrupts
crucial
structural
interactions
in
both
the
heparin
and
the
FGF
binding
sites
in
the
D
2
domain
of
FGFR
.
The
novel
findings
reported
in
this
study
are
expected
to
provide
valuable
clues
toward
a
complete
understanding
of
the
other
genetic
diseases
linked
to
mutations
in
the
FGFR
.
Diseases
Validation
Diseases presenting
"first time"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
gm1 gangliosidosis
harlequin ichthyosis
heparin-induced thrombocytopenia
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
trochlear dysplasia
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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