Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Basement membrane assembly of the integrin α8β1 ligand nephronectin requires Fraser syndrome-associated proteins.
[dystrophic epidermolysis bullosa]
Dysfunction
of
the
basement
membrane
protein
QBRICK
provokes
Fraser
syndrome
,
which
results
in
renal
dysmorphogenesis
,
cryptophthalmos
,
syndactyly
,
and
dystrophic
epidermolysis
bullosa
through
unknown
mechanisms
.
Here
,
we
show
that
integrin
α
8
β
1
binding
to
basement
membranes
was
significantly
impaired
in
Qbrick-null
mice
.
This
impaired
integrin
α
8
β
1
binding
was
not
a
direct
consequence
of
the
loss
of
QBRICK
,
which
itself
is
a
ligand
of
integrin
α
8
β
1
,
because
knock-
in
mice
with
a
mutation
in
the
integrin-binding
site
of
QBRICK
developed
normally
and
do
not
exhibit
any
defects
in
integrin
α
8
β
1
binding
.
Instead
,
the
loss
of
QBRICK
significantly
diminished
the
expression
of
nephronectin
,
an
integrin
α
8
β
1
ligand
necessary
for
renal
development
.
In
vivo
,
nephronectin
associated
with
QBRICK
and
localized
at
the
sublamina
densa
region
,
where
QBRICK
was
also
located
.
Collectively
,
these
findings
indicate
that
QBRICK
facilitates
the
integrin
α
8
β
1
-
dependent
interactions
of
cells
with
basement
membranes
by
regulating
the
basement
membrane
assembly
of
nephronectin
and
explain
why
renal
defects
occur
in
Fraser
syndrome
.
Diseases
Validation
Diseases presenting
"cryptophthalmos"
symptom
dystrophic epidermolysis bullosa
This symptom has already been validated
