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Identification of a novel lysyl oxidase-like 2 alternative splicing isoform, LOXL2 Δe13, in esophageal squamous cell carcinoma.
[esophageal squamous cell carcinoma]
Lysyl
oxidase-like
2
(
LOXL
2
)
participates
in
every
stage
of
cancer
progression
and
promotes
invasion
and
metastasis
.
In
this
study
,
we
identified
a
novel
alternative
splicing
isoform
of
LOXL
2
,
namely
LOXL
2
Δe
13
,
which
lacked
exon
13
.
Deletion
of
exon
13
caused
an
open
reading
frame
shift
and
produced
a
truncated
protein
.
LOXL
2
Δe
13
was
expressed
ubiquitously
in
cell
lines
and
tissues
and
was
mainly
localized
to
the
cytoplasm
.
Although
it
showed
impaired
deamination
enzymatic
activity
compared
with
full-length
LOXL
2
,
LOXL
2
Δe
13
promoted
the
cell
mobility
and
invasion
of
esophageal
squamous
cell
carcinoma
(
ESCC
)
cells
to
greater
degrees
.
In
further
research
on
the
mechanisms
,
gene
expression
profiling
and
signaling
pathway
analysis
revealed
that
LOXL
2
Δe
13
induced
the
expression
of
MAPK
8
without
affecting
the
FAK
,
AKT
,
and
ERK
signaling
pathways
.
RNAi-mediated
knockdown
of
MAPK
8
could
block
the
cell
migration
promoted
by
LOXL
2
De
13
,
but
it
had
little
effect
on
that
of
full-length
LOXL
2
.
Our
data
suggest
that
LOXL
2
Δe
13
modulates
the
effects
of
cancer
cell
migration
and
invasion
through
a
different
mechanism
from
that
of
full-length
LOXL
2
and
that
it
may
play
a
very
important
role
in
tumor
carcinogenesis
and
progression
.
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