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Genome-wide association neural networks identify genes linked to family history of Alzheimer's disease.
Brief Bioinform
November 2024
Department of Psychiatry, University of Oxford, Oxford, United Kingdom.
Augmenting traditional genome-wide association studies (GWAS) with advanced machine learning algorithms can allow the detection of novel signals in available cohorts. We introduce "genome-wide association neural networks (GWANN)" a novel approach that uses neural networks (NNs) to perform a gene-level association study with family history of Alzheimer's disease (AD). In UK Biobank, we defined cases (n = 42 110) as those with AD or family history of AD and sampled an equal number of controls.
View Article and Find Full Text PDFGenome-wide association reveals a locus in neuregulin 3 associated with gabapentin efficacy in women with chronic pelvic pain.
iScience
August 2024
Centre for Reproductive Health, Institute for Regeneration and Repair, University of Edinburgh, Edinburgh EH16 4UU, UK.
Article Synopsis
- Chronic pelvic pain (CPP) in women without clear pelvic issues lacks effective treatment options, as shown by a recent trial indicating gabapentin was ineffective and had more side effects compared to a placebo.
- An exploratory study identified a significant genetic variant (rs4442490) linked to the response to gabapentin, suggesting this variant may influence how patients experience pain relief from the medication.
- The genetic variant rs4442490 affects the expression of Neuregulin 3, which is important for brain function, particularly the orbitofrontal cortex, highlighting the potential for personalized treatment based on genetic factors.
Single-cell RNA sequencing of anaplastic ependymoma and H3K27M-mutant diffuse midline glioma.
BMC Neurol
February 2024
Department of Neurosurgery, Shenzhen Children's Hospital, 7019 Yitian Road, Futian District, Shenzhen, Guangdong, China.
Background: Anaplastic ependymoma and H3K27M-mutant diffuse midline glioma are two common subtypes of brain tumors with poor long-term prognosis. The present study analyzed and compared the differences in cell types between two tumors by single-cell RNA sequencing (scRNA-seq) technology.
Methods: ScRNA-seq was performed to profile cells from cancer tissue from anaplastic ependymoma patient and H3K27M-mutant diffuse midline glioma patient.
Genomic characterization of IDH-mutant astrocytoma progression to grade 4 in the treatment setting.
Acta Neuropathol Commun
November 2023
Prostate Cancer Research Center, Faculty of Medicine and Health Technology, Tampere University and Tays Cancer Centre, Tampere University Hospital, Tampere, Finland.
Article Synopsis
- The study focuses on the progression of low-grade diffuse astrocytomas into grade 4 tumors and its impact on patient outcomes, highlighting the need for better understanding to enhance patient care.
- Researchers analyzed genetic data from a cohort of patients with IDH-mutant astrocytomas, revealing significant alterations like increased chromosomal rearrangements and inactivation of key genes related to cell cycle regulation after treatment.
- Results indicate that combined postoperative radiation and chemotherapy, especially temozolomide, may lead to improved survival outcomes, particularly in patients with grade 3 tumors, suggesting a need for more effective treatment strategies.
The etiology of monoclonal gammopathy of undetermined significance (MGUS) and multiple myeloma (MM) is still obscure as are the processes that enable the progression of MGUS to MM. Understanding the unique vs. shared transcriptomes can potentially elucidate why individuals develop one or the other.
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