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Evaluating pathogenicity of variants of unknown significance in APP, PSEN1, and PSEN2.
Neurotherapeutics
January 2025
Department of Psychiatry, Washington University in St Louis, St Louis, MO, USA; Charles F. and Joanne Knight Alzheimer Disease Research Center, Washington University School of Medicine, St. Louis, MO, USA; Hope Center for Neurological Disorders, Washington University in St Louis, St Louis, MO, USA. Electronic address:
Autosomal dominant Alzheimer's disease (ADAD) is driven by rare variants in APP, PSEN1, and PSEN2. Although more than 200 pathogenic variants in these genes are known to cause ADAD, other variants are benign, may act as risk factors, or may even reduce Alzheimer's disease risk (e.g.
View Article and Find Full Text PDFPathogenicity assessment of genetic variants identified in patients with severe hypertriglyceridemia: novel cases of Familial Chylomicronemia Syndrome from the Dyslipidemia Registry of the Spanish Atherosclerosis Society.
Genet Med
January 2025
Lipids and Atherosclerosis Laboratory, Department of Medicine and Dermatology, Centro de Investigaciones Médico Sanitarias (CIMES), Instituto de Investigación Biomédica de Málaga y Plataforma en Nanomedicina (IBIMA -Plataforma Bionand), University of Málaga, Málaga, Spain; Lipid Unit. Internal Medicine Service. University Hospital Virgen de la Victoria, Málaga, Spain.
Purpose: Genetic testing is required to confirm a diagnosis of familial chylomicronemia syndrome (FCS). We assessed the pathogenicity of variants identified in the FCS canonical genes to diagnose FCS cases.
Methods: 245 patients with severe hypertriglyceridemia underwent next-generation sequencing.
Single-cell RNA sequencing and machine learning provide candidate drugs against drug-tolerant persister cells in colorectal cancer.
Biochim Biophys Acta Mol Basis Dis
January 2025
Center for Mathematical Modeling and Data Science, Osaka University, 1-3 Machikaneyama, Toyonaka, Osaka 560-8531, Japan. Electronic address:
Drug resistance often stems from drug-tolerant persister (DTP) cells in cancer. These cells arise from various lineages and exhibit complex dynamics. However, effectively targeting DTP cells remains challenging.
View Article and Find Full Text PDFAn augmented transformer model trained on protein family specific variant data leads to improved prediction of variants of uncertain significance.
Hum Genet
January 2025
TCS Research, Tata Consultancy Services, Hyderabad, India.
Variants of uncertain significance (VUS) represent variants that lack sufficient evidence to be confidently associated with a disease, thus posing a challenge in the interpretation of genetic testing results. Here we report an improved method for predicting the VUS of Arylsulfatase A (ARSA) gene as part of the Critical Assessment of Genome Interpretation challenge (CAGI6). Our method uses a transfer learning approach that leverages a pre-trained protein language model to predict the impact of mutations on the activity of the ARSA enzyme, whose deficiency is known to cause a rare genetic disorder, metachromatic leukodystrophy.
View Article and Find Full Text PDFFibromatosis of the breast: a case report and literature review.
AME Case Rep
December 2024
Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Background: Fibromatosis of the breast, also known as desmoid-type fibromatosis (DTF), is a rare tumor marked by the development of non-metastatic, locally aggressive tumors in breast tissue. It represents only 0.2% of all breast tumors.
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