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Developmental expression of the fermitin/kindlin gene family in Xenopus laevis embryos.
[kindler syndrome]
Fermitin
genes
are
highly
conserved
and
encode
cytocortex
proteins
that
mediate
integrin
signalling
.
Fermitin
1
(
Kindlin
1
)
is
implicated
in
Kindler
syndrome
,
a
human
skin
blistering
disorder
.
We
report
the
isolation
of
the
three
Fermitin
orthologs
from
Xenopus
laevis
embryos
and
describe
their
developmental
expression
patterns
.
Fermitin
1
is
expressed
in
the
skin
,
otic
and
olfactory
placodes
,
pharyngeal
arches
,
pronephric
duct
,
and
heart
.
Fermitin
2
is
restricted
to
the
somites
and
neural
crest
.
Fermitin
3
is
expressed
in
the
notochord
,
central
nervous
system
,
cement
gland
,
ventral
blood
islands
,
vitelline
veins
,
and
myeloid
cells
.
Our
findings
are
consistent
with
the
view
that
Fermitin
1
is
generally
expressed
in
the
skin
,
Fermitin
2
in
muscle
,
and
Fermitin
3
in
hematopoietic
lineages
.
Moreover
,
we
describe
novel
sites
of
Fermitin
gene
expression
that
extend
our
knowledge
of
this
family
.
Our
data
provide
a
basis
for
further
functional
analysis
of
the
Fermitin
family
in
Xenopus
laevis
.
Diseases
Validation
Diseases presenting
"central nervous system"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
aniridia
aromatase deficiency
canavan disease
child syndrome
classical phenylketonuria
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cystinuria
dracunculiasis
erdheim-chester disease
fabry disease
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
legionellosis
liposarcoma
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
phenylketonuria
proteus syndrome
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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