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Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome.
[kindler syndrome]
Kindler
syndrome
(
KS
)
results
from
pathogenic
loss
-of-function
mutations
in
the
KIND
1
gene
,
which
encodes
kindlin-
1
,
a
focal
adhesion
and
actin
cytoskeleton-related
protein
.
How
and
why
abnormalities
in
kindlin-
1
disrupt
keratinocyte
cell
biology
in
KS
,
however
,
is
not
yet
known
.
In
this
study
,
we
identified
two
previously
unreported
binding
proteins
of
kindlin-
1
:
kindlin-
2
and
migfilin
.
Co
-immunoprecipitation
and
confocal
microscopy
studies
show
that
these
three
proteins
bind
to
each
other
and
colocalize
at
focal
adhesion
in
HaCaT
cells
and
normal
human
keratinocytes
.
Moreover
,
loss
-of-function
mutations
in
KIND
1
result
in
marked
variability
in
kindlin-
1
immunolabeling
in
KS
skin
,
which
is
mirrored
by
similar
changes
in
kindlin-
2
and
migfilin
immunoreactivity
.
Kindlin-
1
,
however
,
may
function
independently
of
kindlin-
2
and
migfilin
,
as
loss
of
kindlin-
1
expression
in
HaCaT
keratinocytes
by
RNA
interference
and
in
KS
keratinocytes
does
not
affect
KIND
2
or
FBLIM
1
(
migfilin
)
gene
expression
or
kindlin-
2
and
migfilin
protein
localization
.
In
addition
to
identifying
protein-binding
partners
for
kindlin-
1
,
this
study
also
highlights
that
KIND
1
gene
expression
and
kindlin-
1
protein
labeling
are
not
always
reduced
in
KS
,
findings
that
are
relevant
to
the
accurate
laboratory
diagnosis
of
this
genodermatosis
by
skin
immunohistochemistry
.
Diseases
Validation
Diseases presenting
"loss of kindlin-1"
symptom
kindler syndrome
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