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A random Abstract
Our Project
Our Team
Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases.
[harlequin ichthyosis]
To
review
recent
advances
in
our
understanding
of
the
genetic
pathomechanisms
of
harlequin
ichthyosis
(
HI
)
(
the
most
devastating
subtype
of
congenital
ichthyoses
)
and
its
prenatal
diagnosis
and
to
discuss
the
possibility
of
future
gene
therapy
.
PubMed
search
for
articles
about
HI
,
its
causative
protein
adenosine
triphosphate-binding
cassette
A
12
(
ABCA
12
)
,
and
related
molecules
.
English
-
language
studies
were
selected
if
they
provided
useful
information
about
the
pathomechanisms
of
HI
and
ABCA
lipid
transporters
.
This
article
describes
ABCA
12
as
a
causative
molecule
involved
in
defects
in
HI
,
summarizes
the
known
genetic
disorders
caused
by
genetic
defects
in
ABCA
lipid
transporters
,
and
highlights
the
prospects
of
prenatal
diagnosis
and
gene
therapy
for
HI
.
Harlequin
ichthyosis
is
caused
by
a
serious
functional
deficiency
of
ABCA
12
.
ABCA
12
and
ABCA
3
are
essential
lipid
transporters
for
human
adaptation
to
a
dry
terrestrial
environment
.
In
clinical
practice
,
information
regarding
the
genetic
defects
and
pathomechanisms
underlying
HI
is
important
for
precise
diagnosis
,
genetic
counseling
,
and
prenatal
diagnosis
.