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Normal and Functional TP53 in Genetically Stable Myxoid/Round Cell Liposarcoma.
[liposarcoma]
Myxoid
/
round
-cell
liposarcoma
(
MLS
/
RCLS
)
is
characterized
by
either
the
fusion
gene
FUS
-
DDIT
3
or
the
less
commonly
occurring
EWSR
1
-
DDIT
3
and
most
cases
carry
few
or
no
additional
cytogenetic
changes
.
There
are
conflicting
reports
concerning
the
status
and
role
of
TP
53
in
MLS
/
RCLS
.
Here
we
analysed
four
MLS
/
RCLS
derived
cell
lines
for
TP
53
mutations
,
expression
and
function
.
Three
SV
40
transformed
cell
lines
expressed
normal
TP
53
proteins
.
Irradiation
caused
normal
posttranslational
modifications
of
TP
53
and
induced
P
21
expression
in
two
of
these
cell
lines
.
Transfection
experiments
showed
that
the
FUS
-
DDIT
3
fusion
protein
had
no
effects
on
irradiation
induced
TP
53
responses
.
Ion
Torrent
AmpliSeq
screening
,
using
the
Cancer
Hotspot
panel
,
showed
no
dysfunctional
or
disease
associated
alleles
/
mutations
.
In
conclusion
,
our
results
suggest
that
most
MLS
/
RCLS
cases
carry
functional
TP
53
genes
and
this
is
consistent
with
the
low
numbers
of
secondary
mutations
observed
in
this
tumor
entity
.
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