Rare Diseases Symptoms Automatic Extraction
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The RNA editing enzyme APOBEC1 induces somatic mutations and a compatible mutational signature is present in esophageal adenocarcinomas.
[esophageal adenocarcinoma]
The
AID
/
APOBECs
are
deaminases
that
act
on
cytosines
in
a
diverse
set
of
pathways
and
some
of
them
have
been
linked
to
the
onset
of
genetic
alterations
in
cancer
.
Among
them
,
APOBEC
1
is
the
only
family
member
to
physiologically
target
RNA
,
as
the
catalytic
subunit
in
the
Apolipoprotein
B
mRNA
editing
complex
.
APOBEC
1
has
been
linked
to
cancer
development
in
mice
but
its
oncogenic
mechanisms
are
not
yet
well
understood
.
We
analyze
whether
expression
of
APOBEC
1
induces
a
mutator
phenotype
in
vertebrate
cells
,
likely
through
direct
targeting
of
genomic
DNA
.
We
show
its
ability
to
increase
the
inactivation
of
a
stably
inserted
reporter
gene
in
a
chicken
cell
line
that
lacks
any
other
AID
/
APOBEC
proteins
,
and
to
increase
the
number
of
imatinib-resistant
clones
in
a
human
cellular
model
for
chronic
myeloid
leukemia
through
induction
of
mutations
in
the
BCR
-
ABL
1
fusion
gene
.
Moreover
,
we
find
the
presence
of
an
AID
/
APOBEC
mutational
signature
in
esophageal
adenocarcinomas
,
a
type
of
tumor
where
APOBEC
1
is
expressed
,
that
mimics
the
one
preferred
by
APOBEC
1
in
vitro
.
Our
findings
suggest
that
the
ability
of
APOBEC
1
to
trigger
genetic
alterations
represents
a
major
layer
in
its
oncogenic
potential
.
Such
APOBEC
1
-
induced
mutator
phenotypes
could
play
a
role
in
the
onset
of
esophageal
adenocarcinomas
.
APOBEC
1
could
be
involved
in
cancer
promotion
at
the
very
early
stages
of
carcinogenesis
,
as
it
is
highly
expressed
in
Barrett
's
esophagus
,
a
condition
often
associated
with
esophageal
adenocarcinoma
.
Diseases
Validation
Diseases presenting
"cancer"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated