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Localization and potential function of kindlin-1 in periodontal tissues.
[kindler syndrome]
Kindlin-
1
is
an
intracellular
focal
adhesion
protein
that
regulates
the
actin
cytoskeleton
.
Patients
suffering
from
Kindler
syndrome
have
a
homologous
mutation
of
the
kindlin-
1
gene
and
develop
skin
blisters
,
periodontal
disease
,
and
intestinal
complications
because
of
deficient
adhesion
of
the
basal
epithelial
cells
.
We
investigated
kindlin-
1
localization
in
periodontal
tissue
and
its
functions
in
cultured
keratinocytes
and
showed
that
kindlin-
1
co
-localizes
with
migfilin
and
paxillin
in
the
basal
epithelial
cells
of
oral
mucosa
and
in
cultured
keratinocytes
.
The
kindlin-
1
-
deficient
oral
mucosal
tissue
from
a
patient
with
Kindler
syndrome
showed
a
complete
lack
of
paxillin
and
reduced
migfilin
immunostaining
in
the
basal
keratinocytes
.
Co
-immunoprecipitation
showed
that
migfilin
directly
interacted
with
kindlin-
1
.
RNA
interference-induced
kindlin-
1
deficiency
in
keratinocytes
led
to
an
altered
distribution
of
migfilin-containing
focal
adhesions
,
reduced
cell
spreading
,
decreased
cell
proliferation
,
and
decelerated
cell
migration
.
Disruption
of
microtubules
in
the
kindlin-
1
-
deficient
cells
further
reduced
cell
spreading
,
suggesting
that
microtubules
can
partially
compensate
for
kindlin-
1
deficiency
.
Kindlin-
1
supported
mature
cell-extracellular
matrix
adhesions
of
keratinocytes
,
as
downregulation
of
kindlin-
1
expression
significantly
reduced
the
cell-adhesion
strength
.
In
summary
,
kindlin-
1
interacts
with
migfilin
and
plays
a
crucial
role
in
actin-dependent
keratinocyte
cell
adhesion
essential
for
epidermal
and
periodontal
health
.
Diseases
Validation
Diseases presenting
"deficient cells"
symptom
child syndrome
esophageal adenocarcinoma
gm1 gangliosidosis
junctional epidermolysis bullosa
kindler syndrome
lymphangioleiomyomatosis
neonatal adrenoleukodystrophy
werner syndrome
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