Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/jpc.16209 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
[Diagnosis of pediatric melanocytic tumors].
Dermatologie (Heidelb)
January 2025
Universitäts-Hautklinik Tübingen, Liebermeisterstr. 25, 72076, Tübingen, Deutschland.
The histological diagnosis of pediatric melanocytic tumors is challenging, as benign nevi often resemble aggressive tumors. Accurate diagnosis is crucial for the early detection of rare pediatric melanomas. Recent advancements have established a classification based on genetic backgrounds.
View Article and Find Full Text PDFClear cell variant of calcifying epithelial odontogenic tumour (Pindborg tumour) of the mandible.
BMJ Case Rep
January 2025
Department of Oral and Maxillofacial Surgery, Indira Gandhi Institute of Dental Sciences, Sri Balaji Vidyapeeth (Deemed to be University), Pondicherry, India.
A calcifying epithelial odontogenic tumour (CEOT) is a rare benign odontogenic tumour of epithelial origin accounting for approximately 1% of all odontogenic tumours. The intraosseous form occurs more commonly in the posterior mandible whereas the extraosseous form is common in the anterior maxilla. CEOT is often asymptomatic and presents with a painless swelling of the mandible.
View Article and Find Full Text PDFThe Cell Cycle Regulatory Proteins p16, CDK4, and PTEN Are Unsuitable as Biomarkers in Oral Melanocytic Lesions.
J Oral Pathol Med
January 2025
Division of Oral and Maxillofacial Pathology, School of Dentistry, University of São Paulo, São Paulo, São Paulo, Brazil.
Background: Melanocytic neoplasms are rare in the oral cavity and represent a diagnostic challenge due to the overlap between benign and malignant lesions. However, their pathogenesis is not fully elucidated. The aim of this study was to evaluate the expression of the cell cycle-related proteins p16, CDK4, and PTEN in oral melanocytic nevi and melanomas.
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 PDFCase Report: ESR1::CITED2 Fusion in a Malignant Uterine Tumor Resembling Ovarian Sex Cord Tumor.
Int J Gynecol Pathol
January 2025
Pathology and Laboratory Medicine, University of California Davis Medical Center, Sacramento, California.
Uterine tumor resembling ovarian sex cord tumor (UTROSCT) is a rare, typically benign uterine tumor occurring over a wide age range (mean 52.4 yr). UTROSCTs often harbor translocations between ESR1 and nuclear receptor coactivators NCOA1-NCOA3.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!