Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Kindlin-1 and -2 have overlapping functions in epithelial cells implications for phenotype modification.
[kindler syndrome]
Kindlins
are
a
novel
family
of
intracellular
adaptor
proteins
in
integrin-containing
focal
adhesions
.
Kindlin-
1
and
-
2
are
expressed
in
the
skin
,
but
whether
and
how
they
cooperate
in
adult
epithelial
cells
have
remained
elusive
.
We
uncovered
the
overlapping
roles
of
kindlin-
1
and
-
2
in
maintaining
epithelial
integrity
and
show
that
the
phenotype
of
kindlin-
1
-
deficient
cells
can
be
modulated
by
regulating
kindlin-
2
gene
expression
and
vice
versa
.
The
experimental
evidence
is
provided
by
use
of
human
keratinocyte
cell
lines
that
express
both
kindlins
,
just
kindlin-
1
or
kindlin-
2
,
or
none
of
them
.
Double
deficiency
of
kindlin-
1
and
-
2
had
significant
negative
effects
on
focal
adhesion
formation
and
actin
cytoskeleton
organization
,
cell
adhesion
,
survival
,
directional
migration
,
and
activation
of
β
(
1
)
integrin
,
whereas
deficiency
of
one
kindlin
only
showed
variable
perturbation
of
these
functions
.
Cell
motility
and
formation
of
cell-cell
contacts
were
particularly
affected
by
lack
of
kindlin-
2
.
These
results
predict
that
kindlin-
1
and
-
2
can
functionally
compensate
for
each
other
,
at
least
in
part
.
The
high
physiologic
and
pathologic
significance
of
the
compensation
was
emphasized
by
the
discovery
of
environmental
regulation
of
kindlin-
2
expression
.
UV-B
irradiation
induced
loss
of
kindlin-
2
in
keratinocytes
.
This
first
example
of
environmental
regulation
of
kindlin
expression
has
implications
for
phenotype
modulation
in
Kindler
syndrome
,
a
skin
disorder
caused
by
kindlin-
1
deficiency
.
Diseases
Validation
Diseases presenting
"skin disorder"
symptom
aniridia
congenital adrenal hyperplasia
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
harlequin ichthyosis
junctional epidermolysis bullosa
kindler syndrome
lamellar ichthyosis
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom