Although lentigines are usually benign, they can be associated with a number of genetic syndromes in which neoplasms and other multi-system pathological processes occur. Here, we report the case of a 6-year-old girl who presented with atypical lentiginosis and hyperpigmentation caused by a de novo genetic variant in the KIT gene.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/pde.13952 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
LncRNA PTS-1 Protects Against Osteoarthritis Through the miR-8085/E2F2 Axis.
J Inflamm Res
January 2025
Department of Orthopaedics, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu, People's Republic of China.
Background: Osteoarthritis (OA) is a leading cause of pain, disability, and reduced mobility worldwide, characterized by metabolic imbalances in chondrocytes, extracellular matrix (ECM), and subchondral bone. Emerging evidence highlights the critical role of long non-coding RNAs (lncRNAs) in OA pathogenesis. This study focuses on lncRNA PTS-1, a novel lncRNA, to explore its function and regulatory mechanisms in OA progression.
View Article and Find Full Text PDFDiscovery of novel PDGFR inhibitors targeting non-small cell lung cancer using a multistep machine learning assisted hybrid virtual screening approach.
RSC Adv
January 2025
Innovative Informatica Technologies Hyderabad Telangana India.
Non-Small Cell Lung Cancer (NSCLC) is a formidable global health challenge, responsible for the majority of cancer-related deaths worldwide. The Platelet-Derived Growth Factor Receptor (PDGFR) has emerged as a promising therapeutic target in NSCLC, given its crucial involvement in cell growth, proliferation, angiogenesis, and tumor progression. Among PDGFR inhibitors, avapritinib has garnered attention due to its selective activity against mutant forms of PDGFR, particularly PDGFRA D842V and KIT exon 17 D816V, linked to resistance against conventional tyrosine kinase inhibitors.
View Article and Find Full Text PDFDiscovery of novel tris-1,2,3-triazole-based hybrids as VEGFR2 inhibitors with potent anti-proliferative and cytotoxicity through apoptosis induction.
Bioorg Chem
January 2025
Department of Chemistry, Faculty of Science, Taibah University, Al-Madinah Al-Munawarah 30002 Saudi Arabia. Electronic address:
The discovery of novel anti-cancer drugs motivated us to synthesize a new series of triple 1,2,3-triazole-based arm scaffolds featuring distinct un functionalized alkyl and/or aryl side chains with possible anti-cancer action using the click chemistry approach under both conventional and green microwave irradiation (MWI) methods. The Cu(I) catalyzed cycloaddition reaction of targeted tris-alkyne with un functionalized aliphatic and aromatic azides has been adopted as an efficient approach for synthesizing the desired click adducts. Microwave irradiation improved the synthetic processes, resulting in higher yields and faster reaction times.
View Article and Find Full Text PDFDevelopment and validation of a multiplex panel with 232 microhaplotypes and software for forensic kinship analysis.
Forensic Sci Int Genet
December 2024
BGI Forensic, Shenzhen 518083, China. Electronic address:
In this study, we developed and validated a novel microhaplotype (MH) panel, the FGID Microhaplotype Kit, which contains 232 loci and was specifically designed for forensic kinship analysis. The performance of the panel was evaluated through rigorous testing that included sensitivity, species specificity, inhibitor resistance, uniformity, stability, accuracy and mixture deconvolution. The results showed that the kit is capable of reliably detecting all loci with minimal DNA input.
View Article and Find Full Text PDFIn Vitro Bioaccessibility of Edible Seaweed Proteins from the Chilean Coast and Proteins from the Novel Seaweed-Derived Mycoprotein.
Molecules
January 2025
Department of Chemical Engineering, Biotechnology, and Materials, Centre for Biotechnology and Bioengineering (CeBiB), University of Chile, Santiago 8330111, Chile.
Seaweed biomass is globally underutilized as a source of proteins despite its nutritional potential, with much of its use focused on hydrocolloid extraction. This study evaluated the nutritional quality and digestibility of protein and amino acids from two brown seaweeds ( spp. and ), one green seaweed ( spp.
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!