HLA-B*58:138 differs from HLA-B*58:01:01:01 by one nucleotide substitution in exon 3 at codon 145.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/tan.15055 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Identification of IGFBP3 and LGALS1 as potential secreted biomarkers for clear cell renal cell carcinoma based on bioinformatics analysis and machine learning.
Adv Clin Exp Med
January 2025
Luddy School of Informatics, Computing and Engineering, Indiana University, Bloomington, USA.
Background: Clear cell renal cell carcinoma (ccRCC) is the most common subtype of renal cell carcinoma (RCC). Due to the lack of symptoms until advanced stages, early diagnosis of ccRCC is challenging. Therefore, the identification of novel secreted biomarkers for the early detection of ccRCC is urgently needed.
View Article and Find Full Text PDFBiallelic variants in AGRN with recurrent pregnancy losses in a family with a fetal akinesia deformation sequence.
Clin Dysmorphol
January 2025
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Introduction: Agrin, encoded by AGRN, plays a vital role in the acetylcholine receptor clustering pathway, and any defects in this pathway are known to cause congenital myasthenic syndrome (CMS) 8 in early childhood with variable fatigable muscle weakness. The most severe or lethal form of CMS manifests as a fetal akinesia deformation sequence (FADS). To date, only one family has been reported with an association of null variants in AGRN and a lethal FADS.
View Article and Find Full Text PDFHigh-throughput Experimentation Enables the Development of a Nickel-catalyzed Cyanation Platform for (Hetero)aryl Halides.
Chemistry
January 2025
Boehringer Ingelheim RCV GmbH & Co KG: Boehringer Ingelheim RCV GmbH und Co KG, Chemical Development, GERMANY.
A novel screening platform for the nickel-catalyzed cyanation of (hetero)aryl halides relying on the use of air-stable Ni(COD)DQ at low loading is reported. Through high-throughput experimentation (HTE), various ligand and solvent combinations are systematically explored, allowing the fast identification of suitable conditions. This standardized workflow serves as an excellent starting point for selecting other competent nickel precatalysts and for further optimization of reluctant substrates.
View Article and Find Full Text PDFIdentification of Novel Iodinated Polyfluoroalkyl Ether Acids and Other Emerging PFAS in Soils Using a Nontargeted Molecular Network Approach.
Environ Sci Technol
January 2025
State Environmental Protection Key Laboratory of Environmental Health Impact Assessment of Emerging Contaminants, School of Environmental Science and Engineering, Shanghai Jiao Tong University, Shanghai 200240, China.
Despite advancements in high-resolution screening techniques, the identification of novel perfluoroalkyl and polyfluoroalkyl substances (PFAS) remains challenging without prior structural information. In view of this, we proposed and implemented a new data-driven algorithm to calculate spectral similarity among PFAS, facilitating the generation of molecular networks to screen for unknown compounds. Using this approach, 81 PFAS across 12 distinct classes were identified in soil samples collected near an industrial park in Shandong Province, China, including the first reported occurrence of 12 iodine-substituted PFAS.
View Article and Find Full Text PDFIdentification of novel ferroptosis-related biomarkers associated with the oxidative stress pathways in ischemic cardiomyopathy.
Int J Cardiol Heart Vasc
February 2025
Department of Geriatrics, Peking University Third Hospital, Beijing 100191, PR China.
Background: Ferroptosis is a cell death process that depends on iron and reactive oxygen species. It significantly contributes to cardiovascular diseases. However, its exact role in ischemic cardiomyopathy (ICM) is still unclear.
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!