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Identification of diagnostic and therapeutic biomarkers for attention-deficit/hyperactivity disorder.
Kaohsiung J Med Sci
January 2025
Department of Psychiatry, School of Medicine, Kaohsiung Medical University Kaohsiung, Taiwan.
Attention-deficit/hyperactivity disorder (ADHD) is a common psychiatric condition among children and adolescents, often associated with a high risk of psychiatric comorbidities. Currently, ADHD diagnosis relies exclusively on clinical presentation and patient history, underscoring the need for clinically relevant, reliable, and objective biomarkers. Such biomarkers may enable earlier diagnosis and lead to improved treatment outcomes.
View Article and Find Full Text PDFThe global outbreak of COVID-19, caused by the SARS-CoV-2 virus, has been linked to long-term neurological complications, including an increased risk of Alzheimer's disease (AD) among older adults. However, the precise genetic impact of COVID-19 on long-term AD development remains unclear. This study leveraged genome-wide association study (GWAS) data and genotype data to explore the genetic association between AD and various COVID-19 phenotypes across European ancestry (EA) and African ancestry (AA) cohorts, and the possibility of a causal effect of COVID-19 on AD.
View Article and Find Full Text PDFAssessing the Utility of DNA Methylation Profiling in the Classification of Myogenic Sarcomas of Bone.
Int J Surg Pathol
January 2025
Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.
The diagnosis of primary leiomyosarcoma (LMS) of bone is generally established based on integrative findings of morphologic features, immunohistochemical staining, and clinical and radiological findings. There are no specific genetic alterations that can be used to confirm the diagnosis of LMS in challenging diagnoses of bone sarcomas with myogenic differentiation. In this study, we assessed the utility of a DNA methylation-based classifier as an ancillary diagnostic tool for subclassifying bone sarcomas with myogenic differentiation.
View Article and Find Full Text PDFPhosphoribosyl pyrophosphate synthetase 1 () associated retinal degeneration: an international study.
Ophthalmic Genet
January 2025
Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA.
Introduction: Phosphoribosyl pyrophosphate synthetase 1 () is an X-linked gene critical for nucleotide metabolism. Pathogenic variants cause three overlapping phenotypes: Arts syndrome (severe neurological disease), Charcot-Marie-Tooth type 5 [CMTX5] (peripheral neuropathy), and non-syndromic sensorineural hearing loss (SNHL). Each may be associated with retinal dystrophy.
View Article and Find Full Text PDFMolecular architecture of the altered cortical complexity in autism.
Mol Autism
January 2025
Human Anatomy Department, Nanjing Medical University, No.101 Longmian Avenue, Jiangning District, Nanjing, 211166, Jiangsu, People's Republic of China.
Autism spectrum disorder (ASD) is characterized by difficulties in social interaction, communication challenges, and repetitive behaviors. Despite extensive research, the molecular mechanisms underlying these neurodevelopmental abnormalities remain elusive. We integrated microscale brain gene expression data with macroscale MRI data from 1829 participants, including individuals with ASD and typically developing controls, from the autism brain imaging data exchange I and II.
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