Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Keratin disorders: from gene to therapy.
[epidermolysis bullosa simplex]
The
term
'
keratin
'
is
generally
accepted
to
refer
to
the
epithelial
keratins
of
soft
and
hard
epithelial
tissues
such
as
:
skin
,
cornea
,
hair
and
nail
.
Since
their
initial
characterization
,
the
total
number
of
mammalian
keratins
has
increased
to
54
,
including
28
type
I
and
26
type
II
keratins
.
Inherited
defects
that
weaken
the
keratin
load-bearing
cytoskeleton
produce
phenotypes
characterized
by
fragility
of
specific
subsets
of
epithelial
tissues
.
The
vast
majority
of
mutations
are
either
missense
or
small
in
-frame
in
-
del
mutations
and
disease
severity
often
relates
to
the
position
of
the
mutation
in
relation
to
the
rod
domain
.
The
most
complex
epithelial
structure
in
humans
,
the
hair
follicle
,
contains
trichocyte
(
'
hard
'
)
keratin
filaments
and
approximately
half
of
the
54
functional
human
keratin
genes
are
trichocyte
keratins
.
So
far
,
only
four
of
these
have
been
linked
to
human
genetic
disorders
:
monilethrix
,
hair-
nail
ectodermal
dysplasia
,
pseudofolliculitis
barbae
and
woolly
hair
,
while
the
majority
of
the
hair
keratins
remain
unlinked
to
human
phenotypes
.
Keratin
disorders
are
a
classical
group
of
dominant-negative
genetic
disorders
,
representing
a
large
healthcare
burden
,
especially
within
dermatology
.
Recent
advances
in
RNA
interference
therapeutics
,
particularly
in
the
form
of
small
-interfering
RNAs
,
represent
a
potential
therapy
route
for
keratin
disorders
through
selectively
silencing
the
mutant
allele
.
To
date
,
mutant-
specific
siRNAs
for
epidermolysis
bullosa
simplex
,
pachyonychia
congenita
and
Messmann
epithelial
corneal
dystrophy
-causing
missense
mutations
have
been
developed
and
proven
to
have
unprecedented
specificity
and
potency
.
This
could
herald
the
dawn
of
a
new
era
in
translational
medical
research
applied
to
genetics
.
Diseases
Validation
Diseases presenting
"disease severity often relates to the position of the mutation in relation to the rod domain"
symptom
epidermolysis bullosa simplex
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom