Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
RECQ DNA helicases and osteosarcoma.
[werner syndrome]
The
RECQ
family
of
DNA
helicases
is
a
conserved
group
of
enzymes
that
are
important
for
maintaining
genomic
integrity
.
In
humans
,
there
are
five
RECQ
helicase
genes
,
and
mutations
in
three
of
them-
BLM
,
WRN
,
and
RECQL
4
-
are
associated
with
the
genetic
disorders
Bloom
syndrome
,
Werner
syndrome
,
and
Rothmund-
Thomson
syndrome
(
RTS
)
,
respectively
.
Importantly
all
three
diseases
are
cancer
predisposition
syndromes
.
Patients
with
RTS
are
highly
and
uniquely
susceptible
to
developing
osteosarcoma
;
thus
,
RTS
provides
a
good
model
to
study
the
pathogenesis
of
osteosarcoma
.
The
"
tumor
suppressor
"
role
of
RECQL
4
and
the
other
RECQ
helicases
is
an
area
of
active
investigation
.
This
chapter
reviews
what
is
currently
known
about
the
cellular
functions
of
RECQL
4
and
how
these
may
relate
to
tumorigenesis
,
as
well
as
ongoing
efforts
to
understand
RECQL
4
's
functions
in
vivo
using
animal
models
.
Understanding
the
RECQ
pathways
may
provide
insight
into
avenues
for
novel
cancer
therapies
in
the
future
.
