Genes,
Год журнала:
2023,
Номер
14(12), С. 2229 - 2229
Опубликована: Дек. 17, 2023
Since
the
introduction
of
new
molecular
techniques,
diagnostic
landscape
soft
tissue
and
bone
tumors
has
expanded
greatly
over
past
few
years.
The
use
techniques
led
to
identification
genetic
alterations
and,
therefore,
a
better
understanding
tumorigenesis,
tumor
detection
classification.
Furthermore,
methylation
profiling
emerged
as
classification
tool
for
tumors.
Molecular
pathology
also
plays
an
important
role
in
determination
patient
prognosis
targets
that
can
be
used
targeted
therapy.
As
result,
gained
more
prominent
daily
practice
surgical
pathologist.
This
review
delves
into
various
applied
It
highlights
their
applications
through
analysis
five
specific
cases.
The
pathogenic
gene
in
most
cleidocranial
dysplasia
patients
has
been
confirmed
to
be
runt-related
transcription
factor
2
(RUNX2),
which
controls
mutations
specific
factors
of
osteoblasts
and
an
effect
on
skull
ossification
suture
adhesion.
aim
this
study
was
explore
the
rule
RUNX2
mutation.
We
report
a
rare
case
splicing
site
mutation
Chinese
population
with
typical
cleidocrarial
dyaplania
symptoms,
cranial
insufficiency,
clavicle,
dental
anomalies.
Peripheral
blood
from
proband
her
mother
extracted
for
Sanger
sequencing.
expression
level
before
after
verified
by
digital
PCR
(dPCR)
technology.
results
revealed
classic
at
fifth
base
intron
5
initiation
sequence
(NM001024630.4:
C.685+5G>A).
rate
53%,
did
not
have
secondary
RNA
structure
progenitor
predicted
change,
structural
free
energy
low
wild
type,
stem
folded
first
being
relatively
stable.
After
mutation,
increased.
This
finding
enriches
library
disease-related
genes
individuals.
Research Square (Research Square),
Год журнала:
2024,
Номер
unknown
Опубликована: Июнь 5, 2024
Abstract
DNA
serves
as
the
foundation
for
molecular
biology,
leading
to
development
of
numerous
techniques.
Often,
these
techniques
necessitate
separation
and
visualization
specific
regions.
Electrophoresis
provides
a
solution
this
requirement.
However,
purification
from
agarose
gels
presents
significant
challenge,
both
in
terms
complexity
cost.
Therefore,
here
we
propose
protocol
that
is
cost-effective
efficient.
GFP
bands
PJet
vector
were
visualized
excised
extraction
using
five
treatments.
Only
treatment
involving
TAE
buffer
failed,
while
others
partially
or
fully
dissolved
gel,
aiding
recovery.
Treatments
2,
4,
5
showed
defined
without
degradation.
A
nested
PCR
confirmed
suitability
recovered
further
applications,
with
only
treatments
4
being
amplified.
Two
additional
samples
successfully
extracted
1%
gel
methods
5,
demonstrating
their
effectiveness.
Heliyon,
Год журнала:
2024,
Номер
10(22), С. e40277 - e40277
Опубликована: Ноя. 1, 2024
Pathogenic
genes
in
most
patients
with
cleidocranial
dysplasia
have
been
confirmed
to
be
runt-related
transcription
factor
2
(RUNX2),
which
controls
mutations
specific
osteoblast
factors
and
affects
skull
ossification
suture
adhesion.
This
study
aimed
explore
the
role
of
RUNX2
mutations.
Here,
we
report
a
rare
case
splice
site
mutation
Chinese
population
typical
symptoms,
cranial
insufficiency,
clavicle
dysplasia,
dental
anomalies.
Peripheral
blood
samples
from
proband
her
mother
were
subjected
Sanger
sequencing.
The
expression
levels
before
after
verified
using
digital
PCR
(dPCR).
results
revealed
classic
at
fifth
base
intron
5
initiation
splicing
sequence
(NM001024630.4:
C.685+5G>A).
rate
was
53%,
while
did
not
any
secondary
RNA
structure
gene
progenitor
predicted
change,
structural
free
energy
low
wild-type,
stem
folded
first
being
relatively
stable.
After
mutation,
increased.
finding
enriches
library
CD-related
individuals.
PLOS Global Public Health,
Год журнала:
2024,
Номер
4(11), С. e0002625 - e0002625
Опубликована: Ноя. 25, 2024
Lateral
flow
rapid
diagnostic
tests
(RDTs,
RTs)
are
cost-effective
with
low
infrastructure
requirements
for
limited-resource
settings,
and
in
any
setting
can
represent
a
bridge
between
early
disease
monitoring
at
outbreak
onset
fully-scaled
molecular
testing
human
or
animal
diseases.
However,
the
potential
of
RTs
to
handle
higher
throughput
is
hampered
by
need
manual
processing.
Here
we
review
dengue
virus
African
swine
fever
tests,
present
novel
protocol
that
employs
an
open-source
fluid
handler
automate
execution
up
42
per
run.
A
publicly
accessible
website,
rtWIZARD.lji.org,
provides
printouts
correctly
spacing
cassettes,
worksheets
sample
organization,
test-specific
protocols
accurately
deliver
samples
from
48-tube
rack
each
cassette's
running
buffer
wells.
An
optional
QR-coded
sheet
allows
de-identified
sample-to-result
traceability
producing
unique
printable
label
cassette,
enabling
results
be
entered
via
scanner.
This
work
describes
highly
model
increasing
efficiency
RT
other
applications
including
workplace
testing,
food
safety,
environmental
defense
applications.
Analytical Chemistry,
Год журнала:
2024,
Номер
unknown
Опубликована: Дек. 16, 2024
Droplet-based
digital
PCR
has
emerged
as
a
powerful
platform
for
nucleic
acid-based
detection.
However,
the
formation
of
droplet
compartments
and
subsequent
amplification
process
in
oil
present
significant
drawbacks:
instability
under
harsh
thermal
conditions,
high
background
fluorescent
noise
inside
droplets,
major
difficulty
supporting
multistep
assays.
Alternatively,
droplets
made
hydrogel,
or
other
advanced
materials,
have
been
adopted
demonstrate
promising
improvement
over
conventional
droplet-based
platforms.
In
this
context,
we
permeability-engineered
compartmentation
system-enabled
(PECS-dPCR),
novel
that
facilitates
biomolecular
assays
with
stability,
minimized
noise,
long-term
preservation
capability.
We
achieve
compartmentalization
by
forming
core-shell
structure
using
aqueous
two-phase
system
(ATPS).
The
hydrogel
shell
provides
exceptional
mechanical
strength
stability
to
these
compartments.
permeability
can
be
fine-tuned
retain
larger
DNA
targets
while
sieving
out
smaller
ancillary
molecules.
Therefore,
significantly
improve
signal-to-noise
ratio
washing
background.
Furthermore,
remain
intact
solution
are
able
exchange
materials
ambient
environment.
This
critical
feature
offers
capability
execute
simple
operational
settings,
enabling
demonstration
multitarget
single-bacteria
quantification
our
platform.
further
show
assay
paused
samples
preserved
>2
weeks
between
different
detection
steps
thanks
excellent
biochemical
offered
envision
PECS-dPCR
becoming
versatile
multiple-reaction-step
assays,
offering
high-quality
signals
stability.
Genes,
Год журнала:
2023,
Номер
14(12), С. 2229 - 2229
Опубликована: Дек. 17, 2023
Since
the
introduction
of
new
molecular
techniques,
diagnostic
landscape
soft
tissue
and
bone
tumors
has
expanded
greatly
over
past
few
years.
The
use
techniques
led
to
identification
genetic
alterations
and,
therefore,
a
better
understanding
tumorigenesis,
tumor
detection
classification.
Furthermore,
methylation
profiling
emerged
as
classification
tool
for
tumors.
Molecular
pathology
also
plays
an
important
role
in
determination
patient
prognosis
targets
that
can
be
used
targeted
therapy.
As
result,
gained
more
prominent
daily
practice
surgical
pathologist.
This
review
delves
into
various
applied
It
highlights
their
applications
through
analysis
five
specific
cases.
