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HLA-A*26:247 differs from HLA-A*26:01:01:01 by one nucleotide substitution in codon 245 in exon 4.
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http://dx.doi.org/10.1111/tan.15673 | DOI Listing |
Hum Brain Mapp
September 2025
Cognitive Neurophysiology, Department of Child and Adolescent Psychiatry, Faculty of Medicine, TU Dresden, Dresden, Germany.
Acting intentionally is a major aspect of human cognitive development and depends on the ability to link actions with their consequences. Action-effect binding (AEB) is a fundamental mechanism enabling this. While AEB has been well-characterized in adults, its neurophysiological underpinnings during adolescence remain unclear.
View Article and Find Full Text PDFMult Scler
September 2025
Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
Background: Tumefactive demyelination (TD) is a rare variant of multiple sclerosis (MS) characterized by tumor-like lesions that often require aggressive management. Genome-wide association studies (GWAS) identified variants associated with MS; similar analyses in TD are lacking.
Objective: A GWAS was performed to identify variants associated with TD.
J Mater Chem B
September 2025
Major in Bionano Engineering, School of Bio-Pharmaceutical Convergence, Hanyang University, Ansan, 155-88, Republic of Korea.
Membrane proteins are essential bio-macromolecules involved in numerous critical biological processes and serve as therapeutic targets for a wide range of modern pharmaceuticals. Small amphipathic molecules, called detergents or surfactants, are widely used for the isolation and structural characterization of these proteins. A key requirement for such studies is their ability to maintain membrane protein stability in aqueous solution, a task where conventional detergents often fall short.
View Article and Find Full Text PDFJ Pathol Transl Med
September 2025
Department of Pathology, Chonnam National University Hwasun Hospital, Chonnam National University Medical School, Hwasun, Korea.
Central nervous system tumors with BCL6 corepressor (BCOR) internal tandem duplications (ITDs) constitute a rare, recently characterized pediatric neoplasm with distinct molecular and histopathological features. To date, 69 cases have been documented in the literature, including our institutional case. These neoplasms predominantly occur in young children, with the cerebellum representing the most frequent anatomical location.
View Article and Find Full Text PDFZhong Nan Da Xue Xue Bao Yi Xue Ban
May 2025
Department of Nephropathy and Rheumatology, Third Xiangya Hospital, Central South University, Changsha 410013.
Dent disease is a rare X-linked recessive inherited renal tubular disorder characterized by low molecular weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis, and other clinical features, and can lead to progressive renal failure. It is primarily caused by mutations in the gene. This article reports the case of a 10-year-old male patient of Chinese descent who was incidentally found to have asymptomatic proteinuria during a routine health examination.
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