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Proteomics and tubulopathies.
[cystinuria]
In
the
last
thirty
decade
,
with
the
emergence
of
new
trends
in
molecular
biology
and
advances
in
high
-throughput
technologies
,
much
progress
has
been
made
in
basic
renal
physiology
.
Molecular
genetics
has
allowed
the
identification
and
elucidation
of
the
structure
,
function
and
effects
of
the
mutations
of
several
of
the
main
transporters
and
ion
channels
involved
in
renal
disorders
.
Some
renal
stone
disorders
,
such
as
cystinuria
and
Dent
's
disease
,
have
been
found
to
be
due
to
mutations
in
genes
SLC
3
A
1
(
type
I
)
(
See
the
section
"
Molecular
biology
and
genotype-phenotype
correlation
in
tubular
dysfunction
"
)
and
SLC
7
A
9
(
type
II
and
type
III
)
,
(
See
the
section
"
Molecular
biology
and
genotype-phenotype
correlation
in
tubular
dysfunction
"
)
and
in
CLC
5
,
respectively
.
Liddle
syndrome
,
a
rare
cause
of
hypertension
,
is
now
known
to
be
caused
by
a
mutation
in
tubular
transport
,
due
to
a
mutation
in
the
SCNN
1
B
gene
,
encoding
for
a
Na
+
channel
protein
(
ENaC
)
.
Nevertheless
,
numerous
issues
remain
unsettled
and
warrant
additional
research
.
These
important
advances
and
discoveries
are
not
without
limitations
and
challenges
as
changes
in
individual
gene
expression
do
not
always
translate
into
changes
in
its
protein
or
protein
modification
.
This
raises
proteomics
as
the
most
logical
next
step
in
our
understanding
of
biological
processes
,
as
proteins
from
these
deregulated
genes
are
the
functional
agents
in
the
cells
.
Proteomics
takes
a
global
and
comprehensive
view
of
a
system
,
involving
in
many
cases
some
notion
of
high
throughput
;
but
in
contrast
to
genomics
,
there
is
no
single
biochemical
method
that
can
be
used
for
the
analysis
of
all
proteins
.
Genomics
and
proteomics
can
complement
each
other
in
clinical
applications
by
balancing
the
strengths
and
weaknesses
of
each
individual
technology
.
Several
proteomics
approaches
have
been
exploited
to
shed
more
light
on
the
molecular
pathophysiology
of
several
hereditary
tubular
disorders
,
such
as
Fanconi
and
Gitelman
syndromes
,
and
have
provided
important
insights
into
the
defective
molecular
mechanisms
underlying
these
tubulopathies
.
Here
we
summarize
several
of
the
most
important
discoveries
arising
from
molecular
genetic
and
proteomic
studies
on
hereditary
tubular
dysfunctions
and
show
how
these
results
can
complement
each
other
to
increase
our
comprehension
of
these
disorders
at
the
molecular
level
.
Diseases
Validation
Diseases presenting
"hereditary tubular dysfunctions"
symptom
cystinuria
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