Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Expression profile of NSDHL in human peripheral tissues.
[child syndrome]
NAD
(
P
)
steroid
dehydrogenase-like
(
NSDHL
)
is
an
X-
linked
gene
that
encodes
a
3
β-hydroxysteroid
dehydrogenase
in
the
cholesterol
biosynthetic
pathway
.
Loss
-of-function
mutations
in
NSDHL
cause
Congenital
Hemidysplasia
with
Ichthyosiform
erythroderma
and
Limb
Defects
(
CHILD
)
and
CK
syndromes
.
CHILD
syndrome
is
a
male
lethal
X-
linked
dominant
disorder
characterized
by
asymmetric
skin
and
limb
anomalies
in
affected
females
.
CK
syndrome
is
an
intellectual
disability
disorder
characterized
by
disproportionate
short
stature
,
brain
malformations
,
and
dysmorphic
features
in
affected
males
.
To
understand
better
the
relationship
of
the
expression
of
mRNA
and
protein
encoded
by
human
NSDHL
to
the
peripheral
malformations
of
these
disorders
,
we
characterized
the
peripheral
expression
of
the
mRNA
and
protein
by
quantitative
reverse
transcriptase
polymerase
chain
reaction
(
qRT-PCR
)
,
immunoblotting
and
immunohistochemistry
.
We
also
profiled
the
mRNA
expression
of
mouse
Nsdhl
by
in
situ
hybridization
.
Expression
of
the
mRNA
and
protein
encoded
by
human
NSDHL
parallels
that
of
mouse
Nsdhl
mRNA
for
most
but
not
all
tissues
.
Furthermore
,
human
NSDHL
protein
and
mouse
Nsdhl
mRNA
were
expressed
in
tissues
synthesizing
cholesterol
and
steroids
and
in
all
peripheral
tissues
affected
by
CHILD
or
CK
syndromes
.