Results 41 to 50 of about 848 (174)

PlantGFM: A Genomic Foundation Model for Discovery and Creation of Plant Genes

open access: yesAdvanced Science, EarlyView.
A plant genomic foundation model pre‐trained on 12 species enables both accurate gene prediction and de novo gene design. Through AI‐human knowledge screening, seven designed sequences showed transcriptional activity in plants, with two expressing stable proteins—demonstrating the first DNA‐RNA‐protein expression of LLM‐generated genes in plants and ...
Changhao Li   +10 more
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy   +16 more
wiley   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu   +23 more
wiley   +1 more source

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan   +20 more
wiley   +1 more source

The development and neural basis of referential gaze perception [PDF]

open access: yes, 2006
Infants are sensitive to the referential information conveyed by others’ eye gaze, which could be one of the developmental foundations of theory of mind.
Johnson, Mark H.   +5 more
core   +1 more source

Visual Cross-Modal Re-Organization in Children with Cochlear Implants. [PDF]

open access: yesPLoS ONE, 2016
BACKGROUND:Visual cross-modal re-organization is a neurophysiological process that occurs in deafness. The intact sensory modality of vision recruits cortical areas from the deprived sensory modality of audition.
Julia Campbell, Anu Sharma
doaj   +1 more source

Presurgical magnetoencephalography‐derived network control metrics distinguish successful hippocampal resection vs sparing in temporal lobe epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective Surgical decision‐making in temporal lobe epilepsy (TLE) faces a critical challenge in determining whether the hippocampus can be safely spared during anterior temporal resection, particularly when surgery involves the language‐dominant hemisphere.
Guhan Seshadri NP   +6 more
wiley   +1 more source

Brain–Computer Interfaces: The Dawn of a New Era in Disease Treatment

open access: yesExploration, EarlyView.
This study investigates the potential of brain–computer interface (BCI) technology in treating neuropsychiatric disorders, such as movement and communication barriers. Our review examines the history, signal paradigms, and diverse applications of BCI while also discussing ongoing research into novel materials and emerging technologies that offer ...
Yuqi Feng   +11 more
wiley   +1 more source

Clinicopathological and molecular characterization of HPV‐associated cervical poorly cohesive carcinoma: a rare aggressive entity

open access: yesThe Journal of Pathology: Clinical Research, Volume 12, Issue 4, July 2026.
Abstract Primary signet‐ring cell carcinoma and poorly differentiated adenocarcinoma with poorly cohesive morphology in the cervix are rare conditions, and their clinicopathological features remain poorly described. This study defines primary cervical poorly differentiated adenocarcinomas meeting the diagnostic criteria for poorly cohesive carcinoma as
Wei Liu   +14 more
wiley   +1 more source

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