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The Kindlins: subcellular localization and expression during murine development.
[kindler syndrome]
The
three
Kindlins
are
a
novel
family
of
focal
adhesion
proteins
.
The
Kindlin-
1
(
URP
1
)
gene
is
mutated
in
Kindler
syndrome
,
the
first
skin
blistering
disease
affecting
actin
attachment
in
basal
keratinocytes
.
Kindlin-
2
(
Mig-
2
)
,
the
best
studied
member
of
this
family
,
binds
ILK
and
Migfilin
,
which
links
Kindlin-
2
to
the
actin
cytoskeleton
.
Kindlin-
3
is
expressed
in
hematopoietic
cells
.
Here
we
describe
the
genomic
organization
,
gene
expression
and
subcellular
localization
of
murine
Kindlins-
1
to
-
3
.
In
situ
hybridizations
showed
that
Kindlin-
1
is
preferentially
expressed
in
epithelia
,
and
Kindlin-
2
in
striated
and
smooth
muscle
cells
.
Kindlins-
1
and
-
2
are
both
expressed
in
the
epidermis
.
While
both
localize
to
integrin-mediated
adhesion
sites
in
cultured
keratinocytes
Kindlin-
2
,
but
not
Kindlin-
1
,
colocalizes
with
E
-
cadherin
to
cell-cell
contacts
in
differentiated
keratinocytes
.
Using
a
Kindlin-
3
-
specific
antiserum
and
an
EGFP-tagged
Kindlin-
3
construct
,
we
could
show
that
Kindlin-
3
is
present
in
the
F-
actin
surrounding
ring
structure
of
podosomes
,
which
are
specialized
adhesion
structures
of
hematopoietic
cells
.
Diseases
Validation
Diseases presenting
"focal adhesion proteins"
symptom
kindler syndrome
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