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Histone lysine methyltransferase Wolf-Hirschhorn syndrome candidate 1 is involved in human carcinogenesis through regulation of the Wnt pathway.
[wolf-hirschhorn syndrome]
A
number
of
histone
methyltransferases
have
been
identified
and
biochemically
characterized
,
but
the
pathologic
roles
of
their
dysfunction
in
human
diseases
like
cancer
are
not
well
understood
.
Here
,
we
demonstrate
that
Wolf-
Hirschhorn
syndrome
candidate
1
(
WHSC
1
)
plays
important
roles
in
human
carcinogenesis
.
Transcriptional
levels
of
this
gene
are
significantly
elevated
in
various
types
of
cancer
including
bladder
and
lung
cancers
.
Immunohistochemical
analysis
using
a
number
of
clinical
tissues
confirmed
significant
up-regulation
of
WHSC
1
expression
in
bladder
and
lung
cancer
cells
at
the
protein
level
.
Treatment
of
cancer
cell
lines
with
small
interfering
RNA
targeting
WHSC
1
significantly
knocked
down
its
expression
and
resulted
in
the
suppression
of
proliferation
.
Cell
cycle
analysis
by
flow
cytometry
indicated
that
knockdown
of
WHSC
1
decreased
the
cell
population
of
cancer
cells
at
the
S
phase
while
increasing
that
at
the
G
(
2
)
/
M
phase
.
WHSC
1
interacts
with
some
proteins
related
to
the
WNT
pathway
including
β-catenin
and
transcriptionally
regulates
CCND
1
,
the
target
gene
of
the
β-catenin
/
Tcf-
4
complex
,
through
histone
H
3
at
lysine
36
trimethylation
.
This
is
a
novel
mechanism
for
WNT
pathway
dysregulation
in
human
carcinogenesis
,
mediated
by
the
epigenetic
regulation
of
histone
H
3
.
Because
expression
levels
of
WHSC
1
are
significantly
low
in
most
normal
tissue
types
,
it
should
be
feasible
to
develop
specific
and
selective
inhibitors
targeting
the
enzyme
as
antitumor
agents
that
have
a
minimal
risk
of
adverse
reaction
.
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