Results 71 to 80 of about 585,856 (303)

Genetic Diagnosis and Discovery Enabled by Large Language Models

open access: yesAdvanced Science, EarlyView.
We demonstrate that large language models (LLMs) can facilitate genetic diagnosis and discovery. LLMs were used to solve four types of genetic problems of sequentially increased complexity. An LLM‐based pipeline could analyze genetic variants in the genomic sequences of human hearing loss or rare genetic disease patients and assist in identifying ...
Tao Tu   +25 more
wiley   +1 more source

Linguistic markers of autism in girls: evidence of a “blended phenotype” during storytelling

open access: yesMolecular Autism, 2019
Background Narrative abilities are linked to social impairment in autism spectrum disorder (ASD), such that reductions in words about cognitive processes (e.g., think, know) are thought to reflect underlying deficits in social cognition, including Theory
Jaclin Boorse   +6 more
doaj   +1 more source

Exploring face perception in disorders of development: evidence from Williams syndrome and autism [PDF]

open access: yes, 2008
Individuals with Williams syndrome (WS) and autism are characterized by different social phenotypes but have been said to show similar atypicalities of face-processing style.
Baron-Cohen   +49 more
core   +1 more source

Cortical Somatostatin Neurons Regulate Seizure Susceptibility via MINAR1/Gαs–cAMP Signaling

open access: yesAdvanced Science, EarlyView.
Our study identifies MINAR1 as a novel regulator of cortical interneuron excitability and seizure susceptibility. MINAR1 is preferentially expressed in SST+ interneurons. Genetic ablation of MINAR1 leads to seizure hypersensitivity, reduced SST+ neuron excitability, and impaired Gαs–cAMP signaling, disrupting the E/I balance.
Wei‐Tang Liu   +20 more
wiley   +1 more source

Persistently Increased Expression of PKMzeta and Unbiased Gene Expression Profiles Identify Hippocampal Molecular Traces of a Long‐Term Active Place Avoidance Memory and “Shadow” Proteins

open access: yesAdvanced Science, EarlyView.
Protein complexes like KIBRA‐PKMζ are crucial for maintaining memories, forming month‐long protein traces in memory‐tagged neurons, but conventional RNA‐seq analysis fails to detect their transcript changes, leaving memory molecules undetected in the shadows of abundantly‐expressed genes.
Jiyeon Han   +10 more
wiley   +1 more source

Effects of oxytocin administration on salivary sex hormone levels in autistic and neurotypical women

open access: yesMolecular Autism, 2020
Background Oxytocin administration, which may be of therapeutic value for individuals with social difficulties, is likely to affect endogenous levels of other socially relevant hormones.
Tanya L. Procyshyn   +9 more
doaj   +1 more source

Large scale validation of an early-age eye-tracking biomarker of an autism spectrum disorder subtype

open access: yesScientific Reports, 2022
Few clinically validated biomarkers of ASD exist which can rapidly, accurately, and objectively identify autism during the first years of life and be used to support optimized treatment outcomes and advances in precision medicine.
Teresa H. Wen   +10 more
doaj   +1 more source

Attitudes Toward Autism [PDF]

open access: yes, 2009
Many studies have been conducted to observe the effect of contact on attitudes toward people with mental illnesses, but few studies have observed the effect of contact on attitudes toward individuals on the autism spectrum specifically.
Edyvean, Carrie
core   +2 more sources

Favourable approach that influence autism students learning language process [PDF]

open access: yes, 2021
Education is important for all, including those students with special needs.In this context, learning process for students with special needsis certainly different from normal students, with special developed curriculum, as well as special skills for ...
Che Lah, Noor Hidayah   +4 more
core  

In Vivo CRISPR Screening Identifies the Glutamate Receptor GRIA2 as Promoting Peritoneal Metastasis of Gastric Cancer via Calcium‐Dependent β‐Catenin Activation

open access: yesAdvanced Science, EarlyView.
We identified GRIA2 as a critical driver of gastric cancer peritoneal metastasis through in vivo CRISPR screening. Mechanistically, GRIA2‐mediated calcium influx inhibits GSK3β and activates Wnt/β‐catenin signaling, driven by glutamate from cancer‐associated fibroblasts.
Jie Sun   +13 more
wiley   +1 more source

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