Diversitas Journal,
Journal Year:
2024,
Volume and Issue:
9(3)
Published: Aug. 9, 2024
O
objetivo
desta
revisão
foi
discutir
os
avanços
recentes
e
desafios
enfrentados
na
aplicação
da
bioinformática
em
problemas
de
saúde.
Para
tanto,
conduzida
uma
bibliográfica
abrangente,
visando
explorar
tópicos
relevantes,
como
fundamentos
seu
impacto
esfera
saúde,
as
principais
contribuições
das
abordagens
ômicas
(genômica,
proteômica,
transcriptômica,
entre
outras)
para
a
compreensão
bem
o
papel
importante
pesquisa
biomédica
prática
clínica.
É
ressaltar
que
bioinformática,
um
campo
interdisciplinar
integra
biologia,
computação
informática,
desempenha
cada
vez
mais
fundamental
decifração
dados
complexos
associados
à
saúde
humana.
As
informações
descobertas
delineadas
neste
artigo
enfatizam
continua
ser
peça
melhoria
evolução
medicina.
Contudo,
considerando
incessante
tecnologias
ferramentas,
é
promover
colaboração
pesquisadores,
profissionais
indústria,
fim
estabelecer
padrões
permitam
utilização
ética
eficaz
desses
Essa
cooperação
essencial
desenvolver
sistemas
robustos,
garantir
segurança
dos
padronizar
métodos
análise,
proporcionando
benefícios
significativos
tanto
pública
quanto
individual.
Frontiers in Immunology,
Journal Year:
2022,
Volume and Issue:
13
Published: June 6, 2022
The
molecular
mechanisms
of
osteoarthritis,
the
most
common
chronic
disease,
remain
unexplained.
This
study
aimed
to
use
bioinformatic
methods
identify
key
biomarkers
and
immune
infiltration
in
osteoarthritis.
Gene
expression
profiles
(GSE55235,
GSE55457,
GSE77298,
GSE82107)
were
selected
from
Expression
Omnibus
database.
A
protein-protein
interaction
network
was
created,
functional
enrichment
analysis
genomic
performed
using
Ontology
(GO)
Kyoto
Encyclopedia
Genes
Genome
(KEGG)
databases.
Immune
cell
between
osteoarthritic
tissues
control
analyzed
CIBERSORT
method.
Identify
patterns
ConsensusClusterPlus
package
R
software
a
consistent
clustering
approach.
Molecular
biological
investigations
discover
important
genes
cartilage
cells.
total
105
differentially
expressed
identified.
Differentially
enriched
immunological
response,
chemokine-mediated
signaling
pathway,
inflammatory
response
revealed
by
GO
KEGG
Two
distinct
(ClusterA
ClusterB)
identified
ConsensusClusterPlus.
Cluster
patients
had
significantly
lower
resting
dendritic
cells,
M2
macrophages,
mast
activated
natural
killer
cells
regulatory
T
than
B
patients.
levels
TCA1,
TLR7,
MMP9,
CXCL10,
CXCL13,
HLA-DRA,
ADIPOQSPP1
higher
IL-1β-induced
group
osteoarthritis
an
vitro
qPCR
experiment.
Explaining
differences
normal
will
contribute
understanding
development
International Journal of Molecular Sciences,
Journal Year:
2021,
Volume and Issue:
22(22), P. 12146 - 12146
Published: Nov. 10, 2021
We
overview
recent
research
trends
in
cancer
genomics,
bioinformatics
tools
development
and
medical
genetics,
based
on
results
discussed
papers
collections
"Medical
Genetics,
Genomics
Bioinformatics"
(https://www
[...].
Bone and Joint Research,
Journal Year:
2024,
Volume and Issue:
13(2), P. 66 - 82
Published: Feb. 5, 2024
Aims
This
study
aimed
to
explore
the
biological
and
clinical
importance
of
dysregulated
key
genes
in
osteoarthritis
(OA)
patients
at
cartilage
level
find
potential
biomarkers
targets
for
diagnosing
treating
OA.
Methods
Six
sets
gene
expression
profiles
were
obtained
from
Gene
Expression
Omnibus
database.
Differential
analysis,
weighted
coexpression
network
analysis
(WGCNA),
multiple
machine-learning
algorithms
used
screen
crucial
osteoarthritic
cartilage,
genome
enrichment
functional
annotation
analyses
decipher
related
categories
function.
Single-sample
set
was
performed
analyze
immune
cell
infiltration.
Correlation
relationship
among
hub
cells,
as
well
markers
articular
degradation
bone
mineralization.
Results
A
total
46
intersection
significantly
upregulated
module
screened
by
WGCNA.
Functional
revealed
that
these
closely
pathological
responses
associated
with
OA,
such
inflammation
immunity.
Four
(cartilage
acidic
protein
1
(CRTAC1),
iodothyronine
deiodinase
2
(DIO2),
angiopoietin-related
(ANGPTL2),
MAGE
family
member
D1
(MAGED1))
identified
after
using
algorithms.
These
had
high
diagnostic
value
both
training
cohort
external
validation
(receiver
operating
characteristic
>
0.8).
The
signified
higher
levels
infiltration
metalloproteinases
mineralization
markers,
suggesting
harmful
alterations
indicating
play
an
important
role
pathogenesis
competing
endogenous
RNA
constructed
reveal
underlying
post-transcriptional
regulatory
mechanisms.
Conclusion
current
explores
validates
a
is
capable
accurately
OA
characterizing
cartilage;
this
may
become
promising
indicator
decision-making.
indicates
development
progression
be
therapeutic
targets.
Cite
article:
Bone
Joint
Res
2024;13(2):66–82.
Respiratory Research,
Journal Year:
2024,
Volume and Issue:
25(1)
Published: Aug. 3, 2024
Pulmonary
arterial
hypertension
(PAH)
is
a
life-threatening
chronic
cardiopulmonary
disease.
However,
there
paucity
of
studies
that
reflect
the
available
biomarkers
from
separate
gene
expression
profiles
in
PAH.
The
GSE131793
and
GSE113439
datasets
were
combined
for
subsequent
analyses,
batch
effects
removed.
Bioinformatic
analysis
was
then
performed
to
identify
differentially
expressed
genes
(DEGs).
Weighted
co-expression
network
(WGCNA)
protein-protein
interaction
(PPI)
used
further
filter
hub
genes.
Functional
enrichment
intersection
using
Gene
Ontology
(GO),
Disease
(DO),
Kyoto
encyclopedia
genomes
(KEGG)
set
(GSEA).
level
diagnostic
value
pulmonary
patients
also
analyzed
validation
GSE53408
GSE22356.
In
addition,
target
validated
lungs
monocrotaline
(MCT)-induced
(PH)
rat
model
serum
PAH
patients.
A
total
914
(DEGs)
identified,
with
722
upregulated
192
downregulated
key
module
relevant
selected
WGCNA.
By
combining
DEGs
WGCNA,
807
selected.
Furthermore,
protein–protein
identified
HSP90AA1,
CD8A,
HIF1A,
CXCL8,
EPRS1,
POLR2B,
TFRC,
PTGS2
as
GSE22356
evaluate
which
showed
robust
value.
According
GSEA
analysis,
PAH-relevant
biological
functions
pathways
enriched
high
TFRC
levels.
found
be
lung
tissues
our
experimental
PH
compared
those
controls,
same
conclusion
reached
bioinformatics
observed
increase
tissue
human
patients,
indicated
by
transcriptomic
data,
consistent
alterations
rodent
models.
These
data
suggest
may
serve
potential
biomarker
Vavilov Journal of Genetics and Breeding,
Journal Year:
2025,
Volume and Issue:
28(8), P. 1008 - 1017
Published: Jan. 26, 2025
Data
on
the
genetics
and
molecular
biology
of
diabetes
are
accumulating
rapidly.
This
poses
challenge
creating
research
tools
for
a
rapid
search
for,
structuring
analysis
information
in
this
field.
We
have
developed
web
resource,
GlucoGenes
®
,
which
includes
database
an
Internet
portal
genes
proteins
associated
with
high
glucose
(hyperglycemia),
low
(hypoglycemia),
both
metabolic
disorders.
The
data
were
collected
using
text
mining
publications
indexed
PubMed
Central
gene
networks
hyperglycemia,
hypoglycemia
variability
performed
ANDSystems,
bioinformatics
tool.
is
freely
available
at:
https://glucogenes.sysbio.ru/genes/main.
enables
users
to
access
download
about
risk
hyperglycemia
hypoglycemia,
regulators
hyperglycemic
antihyperglycemic
activity,
up-regulated
by
and/or
glucose,
down-regulated
molecules
otherwise
metabolism
With
evolutionary
disorders
was
performed.
results
revealed
significant
increase
(up
40
%)
proportion
phylostratigraphic
age
index
(PAI)
values
corresponding
time
origin
multicellular
organisms.
Analysis
sequence
conservation
divergence
(DI)
showed
that
most
highly
conserved
(DI
<
0.6)
or
conservative
1).
When
analyzing
single
nucleotide
polymorphism
(SNP)
proximal
regions
promoters
affecting
affinity
TATA-binding
protein,
181
SNP
markers
found
database,
can
reduce
(45
markers)
(136
expression
52
genes.
believe
resource
will
be
useful
tool
further
field
diabetes.
Journal of Cellular and Molecular Medicine,
Journal Year:
2025,
Volume and Issue:
29(4)
Published: Feb. 1, 2025
ABSTRACT
Hepatic
ischemia/reperfusion
injury
(IRI)
commonly
complicates
liver
transplantation
(LT).
However,
the
precise
mechanisms
underlying
hepatic
IRI
remain
incompletely
understood.
We
acquired
single‐cell
RNA
sequencing
(scRNA‐seq)
and
transcriptome
data
of
LT
patients
from
GEO
database.
Employing
scRNA‐seq,
we
delved
into
interplay
between
non‐immune
immune
cells
in
IRI,
pinpointing
genes
exhibiting
altered
expression
patterns.
Integrating
insights
gleaned
scRNA‐seq
datasets,
deepened
our
comprehension
cellular
interactions
IRI.
Additionally,
conducted
preliminary
validation
identified
gene
alterations
using
immunofluorescence
techniques.
Using
detected
significant
changes
populations
sinusoidal
endothelial
(LSECs)
monocytes
after
ischemia–reperfusion
(IRI).
By
integrating
with
bulk
data,
key
dysregulated
LSECs
(ICAM1,
SOCS3,
NFKBIZ,
JUND,
TNFRSF12A
HSPA6)
(SOCS3,
FPR2
NR4A2).
Our
analysis
cell
communication
indicated
that
ANXA1‐FPR2
axis
might
be
a
pivotal
signature
mediating
monocytes.
then
established
mouse
model
for
further
analyses
flow
cytometry
showed
increase
monocyte
proportion
post‐IR
(
p
<
0.01).
Consistently,
Western
Blot
also
revealed
upregulation
ANXA1
study
elucidated
signalling
pathways
following
The
likely
triggers
cascade
events,
promoting
infiltration
amplifying
inflammatory
responses,
thus
worsening
deleterious
effects
Aging,
Journal Year:
2024,
Volume and Issue:
unknown
Published: Jan. 3, 2024
Background:
Osteoarthritis
(OA)
is
one
of
the
main
causes
pain
and
disability
in
world,
it
may
be
caused
by
many
factors.
Aging
plays
a
significant
role
onset
progression
OA.
However,
mechanisms
underlying
remain
unknown.
Our
research
aimed
to
uncover
aging-related
genes
Methods:
In
Human
OA
datasets
were
obtained
from
GEO
database
HAGR
website,
respectively.
Bioinformatics
methods
including
Gene
Ontology
(GO),
Kyoto
Encyclopedia
Genes
Genomes
(KEGG)
pathway
enrichment,
Protein-protein
interaction
(PPI)
network
analysis
used
analyze
differentially
expressed
(DEARGs)
normal
control
group
group.
And
then
weighted
gene
coexpression
(WGCNA),
least
absolute
shrinkage
selection
operator
(LASSO)
regression,
Random
Forest
(RF)
machine
learning
algorithms
find
hub
genes.
Results:
Four
overlapping
genes:
HMGB2,
CDKN1A,
JUN,
DDIT3
identified.
According
nomogram
model
receiver
operating
characteristic
(ROC)
curve
analysis,
four
DEARGs
had
good
diagnostic
value
distinguishing
Furthermore,
qRT-PCR
test
demonstrated
that
mRNA
expression
levels
lower
than
Conclusion:
Finally,
these
four-hub
help
us
understand
mechanism
aging
osteoarthritis
could
as
possible
therapeutic
targets.