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Loss of Kindlin-1 causes skin atrophy and lethal neonatal intestinal epithelial dysfunction.
[kindler syndrome]
Kindler
Syndrome
(
KS
)
,
characterized
by
transient
skin
blistering
followed
by
abnormal
pigmentation
,
skin
atrophy
,
and
skin
cancer
,
is
caused
by
mutations
in
the
FERMT
1
gene
.
Although
a
few
KS
patients
have
been
reported
to
also
develop
ulcerative
colitis
(
UC
)
,
a
causal
link
to
the
FERMT
1
gene
mutation
is
unknown
.
The
FERMT
1
gene
product
belongs
to
a
family
of
focal
adhesion
proteins
(
Kindlin-
1
,
-
2
,
-
3
)
that
bind
several
beta
integrin
cytoplasmic
domains
.
Here
,
we
show
that
deleting
Kindlin-
1
in
mice
gives
rise
to
skin
atrophy
and
an
intestinal
epithelial
dysfunction
with
similarities
to
human
UC
.
This
intestinal
dysfunction
results
in
perinatal
lethality
and
is
triggered
by
defective
intestinal
epithelial
cell
integrin
activation
,
leading
to
detachment
of
this
barrier
followed
by
a
destructive
inflammatory
response
.
Diseases
Validation
Diseases presenting
"skin cancer"
symptom
dystrophic epidermolysis bullosa
erythropoietic protoporphyria
esophageal adenocarcinoma
kindler syndrome
oculocutaneous albinism
waldenström macroglobulinemia
werner syndrome
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