Journal of Neurodevelopmental Disorders,
Journal Year:
2022,
Volume and Issue:
14(1)
Published: June 24, 2022
Numerous
genes
are
implicated
in
autism
spectrum
disorder
(ASD).
ASD
encompasses
a
wide-range
and
severity
of
symptoms
co-occurring
conditions;
however,
the
details
how
genetic
variation
contributes
to
phenotypic
differences
unclear.
This
creates
challenge
for
translating
evidence
into
clinically
useful
knowledge.
Sleep
disturbances
particularly
prevalent
conditions
ASD,
genetics
may
inform
treatment.
Identifying
convergent
mechanisms
with
dysfunction
that
connect
sleep
biology
could
help
identify
better
treatments
these
individuals.
To
influence
risk
disturbances,
we
analyzed
whole
exome
sequence
data
from
individuals
Simons
Simplex
Collection
(n
=
2380).
We
predicted
protein
damaging
variants
(PDVs)
currently
either
or
duration
typically
developing
children.
network
ASD-related
proteins
direct
interaction
duration-related
encoded
by
PDVs.
Overrepresentation
analyses
Gene
Ontology-defined
biological
processes
were
conducted
on
resulting
gene
set.
calculated
likelihood
top
overrepresented
process.
then
tested
if
scores
reflecting
process
associated
parent-reported
duration.
There
29
PDVs
dataset
where
was
reported
literature
be
both
A
108
candidate
identified.
The
mechanism
PDV-containing
encode
most
cerebral
cortex
development
(GO:0,021,987).
Scores
this
durations;
largest
effects
observed
adolescents
(p
4.65
×
10-3).
Our
bioinformatic-driven
approach
detected
enriched
encoding
protein-protein
linking
products
accumulation
potentially
as
parents.
Specifically,
impacting
affect
disrupting
homeostasis
which
is
evidenced
regulated
brain
region.
Future
functional
assessments
objective
measurements
provide
basis
more
informed
treatment
problems
bioRxiv (Cold Spring Harbor Laboratory),
Journal Year:
2024,
Volume and Issue:
unknown
Published: July 18, 2024
Abstract
Sleep
is
vital
for
maintenance
of
cognitive
functions
and
lifespan
across
the
animal
kingdom.
Here,
we
report
our
surprising
findings
that
insomniac
(
inc
)
Drosophila
short
sleep
mutants,
which
lack
a
crucial
adaptor
protein
autism-associated
Cullin-3
ubiquitin
ligase,
exhibited
excessive
olfactory
memory.
Through
genetic
modifier
screen,
find
mild
attenuation
Protein
Kinase
A
(PKA)
signaling
specifically
rescued
longevity
phenotypes
mutants.
Surprisingly,
this
PKA
reduction
further
boosted
memory
in
coupled
with
exaggerated
mushroom
body
overgrowth
phenotypes.
We
propose
an
intrinsic
hyperplasticity
scenario
genuine
to
mutants
enhances
functions.
Elevating
seems
serve
as
checkpoint
allows
constrain
these
animals,
albeit
at
sacrifice
longevity.
Our
data
offer
mechanistic
explanation
deficits
challenges
traditional
views
on
relation
between
memory,
suggest
behavioral
hyperplasticity,
e.g.,
prominent
autistic
patients,
can
provoke
deficits.
bioRxiv (Cold Spring Harbor Laboratory),
Journal Year:
2024,
Volume and Issue:
unknown
Published: Sept. 26, 2024
Idiopathic
hypersomnia
(IH)
is
a
poorly-understood
sleep
disorder
characterized
by
excessive
daytime
sleepiness
despite
normal
nighttime
sleep.
Combining
human
genomics
with
behavioral
and
mechanistic
studies
in
fish
flies,
we
uncover
role
for
Advances in Economics Management and Political Sciences,
Journal Year:
2023,
Volume and Issue:
26(1), P. 86 - 92
Published: Sept. 12, 2023
This
paper
explores
the
application
of
cryptocurrencies
in
Non-Fungible
Tokens
(NFTs).
After
introducing
concepts
and
historical
background
NFTs
cryptocurrencies,
analyzes
advantages
using
NFTs,
including
decentralization,
security,
stable
storage
value,
cross-border
payment,
low
transaction
cost,
anonymity,
programmability,
community
support.
However,
also
highlights
shortcomings
this
application,
such
as
unclear
laws
regulations,
price
fluctuations,
environmental
problems,
technical
obstacles,
security
risks,
intellectual
copyright
issues,
moral
social
issues.
To
address
these
challenges,
proposes
several
workarounds,
stablecoins
to
solve
volatility
providing
user-friendly
interfaces
educational
resources
complex
increasing
number
merchants
service
providers
accepting
payment
methods
problem
a
limitation.
Finally,
industry
trend
its
potential
future
direction.
contributes
better
understanding
provides
insights
into
development
emerging
field.
Journal of Neurodevelopmental Disorders,
Journal Year:
2022,
Volume and Issue:
14(1)
Published: June 24, 2022
Numerous
genes
are
implicated
in
autism
spectrum
disorder
(ASD).
ASD
encompasses
a
wide-range
and
severity
of
symptoms
co-occurring
conditions;
however,
the
details
how
genetic
variation
contributes
to
phenotypic
differences
unclear.
This
creates
challenge
for
translating
evidence
into
clinically
useful
knowledge.
Sleep
disturbances
particularly
prevalent
conditions
ASD,
genetics
may
inform
treatment.
Identifying
convergent
mechanisms
with
dysfunction
that
connect
sleep
biology
could
help
identify
better
treatments
these
individuals.
To
influence
risk
disturbances,
we
analyzed
whole
exome
sequence
data
from
individuals
Simons
Simplex
Collection
(n
=
2380).
We
predicted
protein
damaging
variants
(PDVs)
currently
either
or
duration
typically
developing
children.
network
ASD-related
proteins
direct
interaction
duration-related
encoded
by
PDVs.
Overrepresentation
analyses
Gene
Ontology-defined
biological
processes
were
conducted
on
resulting
gene
set.
calculated
likelihood
top
overrepresented
process.
then
tested
if
scores
reflecting
process
associated
parent-reported
duration.
There
29
PDVs
dataset
where
was
reported
literature
be
both
A
108
candidate
identified.
The
mechanism
PDV-containing
encode
most
cerebral
cortex
development
(GO:0,021,987).
Scores
this
durations;
largest
effects
observed
adolescents
(p
4.65
×
10-3).
Our
bioinformatic-driven
approach
detected
enriched
encoding
protein-protein
linking
products
accumulation
potentially
as
parents.
Specifically,
impacting
affect
disrupting
homeostasis
which
is
evidenced
regulated
brain
region.
Future
functional
assessments
objective
measurements
provide
basis
more
informed
treatment
problems
