Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
The Kindler syndrome protein is regulated by transforming growth factor-beta and involved in integrin-mediated adhesion.
[kindler syndrome]
Transforming
growth
factor
-
beta
1
(
TGF-
beta
1
)
contributes
to
tumor
invasion
and
cancer
progression
by
increasing
the
motility
of
tumor
cells
.
To
identify
genes
involved
in
TGF-
beta
-mediated
cell
migration
,
the
transcriptional
profiles
of
human
mammary
epithelial
cells
(
HMEC
)
treated
with
TGF-
beta
were
compared
with
untreated
cells
by
cDNA
microarray
analysis
.
One
gene
up-regulated
by
TGF-
beta
was
recently
named
kindlerin
(
Jobard
,
F
.
,
Bouadjar
,
B
.
,
Caux
,
F
.
,
Hadj-
Rabia
,
S
.
,
Has
,
C
.
,
Matsuda
,
F
.
,
Weissenbach
,
J
.
,
Lathrop
,
M
.
,
Prud
'
homme
,
J
.
F
.
,
and
Fischer
,
J
.
(
2003
)
Hum
.
Mol
.
Genet
.
12
,
925
-
935
)
.
This
gene
is
significantly
overexpressed
in
some
cancers
(
Weinstein
,
E
.
J
.
,
Bourner
,
M
.
,
Head
,
R
.
,
Zakeri
,
H
.
,
Bauer
,
C
.
,
and
Mazzarella
,
R
.
(
2003
)
Biochim
.
Biophys
.
Acta
1637
,
207
-
216
)
,
and
mutations
in
this
gene
lead
to
Kindler
syndrome
,
an
autosomal-recessive
genodermatosis
.
TGF-
beta
stimulation
of
HMEC
resulted
in
a
marked
induction
of
kindlerin
RNA
,
and
Western
blotting
demonstrated
a
corresponding
increase
in
protein
abundance
.
Kindlerin
displays
a
putative
FERM
(
four
point
one
ezrin
radixin
moesin
)
domain
that
is
closely
related
to
the
sequences
in
talin
that
interact
with
integrin
beta
subunit
cytoplasmic
domains
.
The
critical
residues
in
the
talin
FERM
domain
that
mediate
integrin
binding
show
a
high
degree
of
conservation
in
kindlerin
.
Furthermore
,
kindlerin
is
recruited
into
a
molecular
complex
with
the
beta
1
A
and
beta
3
integrin
cytoplasmic
domains
.
Consistent
with
these
biochemical
findings
,
kindlerin
is
present
at
focal
adhesions
,
sites
of
integrin-rich
,
membrane-substratum
adhesion
.
Additionally
,
kindlerin
is
required
for
normal
cell
spreading
.
Taken
together
,
these
data
suggest
a
role
for
kindlerin
in
mediating
cell
processes
that
depend
on
integrins
.
Diseases
Validation
Diseases presenting
"focal adhesions"
symptom
kindler syndrome
wiskott-aldrich syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom