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A random Abstract
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The ESF meeting on "The proteomics, epigenetics and pharmacogenetics of pendrin".
[pendred syndrome]
Human
pendrin
(
SCL
26
A
4
,
PDS
)
is
a
780
amino
acid
integral
membrane
protein
with
transport
function
.
It
acts
as
an
electroneutral
,
sodium-independent
anion
exchanger
for
a
wide
range
of
anions
,
such
as
iodide
,
chloride
,
formate
,
bicarbonate
,
hydroxide
and
thiocyanate
.
Pendrin
expression
was
originally
described
in
the
thyroid
gland
,
kidney
and
inner
ear
.
Accordingly
,
pendrin
mutations
with
reduction
or
loss
of
transport
function
result
in
thyroid
and
inner
ear
abnormalities
,
manifested
as
syndromic
(
Pendred
syndrome
)
and
non-syndromic
hearing
loss
with
an
enlarged
vestibular
aqueduct
(
ns-
EVA
)
.
Pendred
syndrome
,
the
most
common
form
of
syndromic
deafness
,
is
an
autosomal
recessive
disease
characterized
by
sensorineural
deafness
due
to
inner
ear
malformations
and
a
partial
iodide
organification
defect
that
may
lead
to
thyroid
goiter
.
Later
,
it
became
evident
that
not
only
pendrin
loss
of
function
,
but
also
up-regulation
could
participate
in
the
pathogenesis
of
human
diseases
.
Indeed
,
despite
the
absence
of
kidney
dysfunction
in
Pendred
syndrome
patients
,
evidence
exists
that
pendrin
also
plays
a
crucial
role
in
this
organ
,
with
a
potential
involvement
in
the
pathogenesis
of
hypertension
.
In
addition
,
recent
data
underscore
the
role
of
pendrin
in
exacerbations
of
respiratory
distresses
including
bronchial
asthma
and
chronic
obstructive
pulmonary
disease
(
COPD
)
.
Pendrin
expression
in
other
organs
such
as
mammary
gland
,
testis
,
placenta
,
endometrium
and
liver
point
to
new
,
underscored
pendrin
functions
that
deserve
to
be
further
investigated
.
Diseases
Validation
Diseases presenting
"common form"
symptom
achondroplasia
alexander disease
benign recurrent intrahepatic cholestasis
cadasil
child syndrome
classical phenylketonuria
cutaneous mastocytosis
erythropoietic protoporphyria
familial mediterranean fever
hereditary cerebral hemorrhage with amyloidosis
hodgkin lymphoma, classical
holt-oram syndrome
homocystinuria without methylmalonic aciduria
oral submucous fibrosis
pendred syndrome
primary hyperoxaluria type 1
severe combined immunodeficiency
thoracic outlet syndrome
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