Characterization by next-generation sequencing of four novel HLA alleles: C*17:03:01:07, C*16:01:01:39, B*15:17:01:07, and B*44:03:01:57.
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http://dx.doi.org/10.1111/tan.15371 | DOI Listing |
J Tradit Complement Med
January 2025
National Research Institute of Chinese Medicine, Ministry of Health and Welfare, Taipei City, 112026, Taiwan.
Amidst growing concerns over COVID-19 aftereffects like fatigue and cognitive issues, NRICM101, a traditional Chinese medicine, has shown promise. Used by over 2 million people globally, it notably reduces hospitalizations and intubations in COVID-19 patients. To explore whether NRICM101 could combat COVID-19 brain fog, we tested NRICM101 on hACE2 transgenic mice administered the S1 protein of SARS-CoV-2, aiming to mitigate S1-induced cognitive issues by measuring animal behaviors, immunohistochemistry (IHC) staining, and next-generation sequencing (NGS) analysis.
View Article and Find Full Text PDFNeurol Genet
December 2024
From the School of Medicine (A.R.T., J.R.), The University of Queensland; Department of Neurology (W.R., P.A.M., R.D.H., L.V.), Royal Brisbane & Women's Hospital; The University of Queensland (P.A.M., R.D.H., L.V.), UQ Centre for Clinical Research; and Genetic Health Queensland (J.R.), Royal Brisbane & Women's Hospital, Brisbane, Queensland, Australia.
Tay-Sachs disease is a neurodegenerative disorder characterized by progressive neurologic impairment due to pathogenic variants in the gene that codes for the alpha subunit of β-hexosaminidase. We report 2 cases of adult-onset progressive weakness, ataxia, and neuropsychiatric symptoms in a 30-year-old man and 37-year-old woman. Both patients had compound heterozygosity in the gene with 4 distinct variants.
View Article and Find Full Text PDFComput Struct Biotechnol J
December 2024
Systems Biology Center, Key Laboratory of Engineering Biology for Low-carbon Manufacturing, Tianjin Institute of Industrial Biotechnology, Chinese Academy of Sciences, Tianjin, China.
DNA holds immense potential as an emerging data storage medium. However, the recovery of information in DNA storage systems faces challenges posed by various errors, including IDS errors, strand breaks, and rearrangements, inevitably introduced during synthesis, amplification, sequencing, and storage processes. Sequence reconstruction, crucial for decoding, involves inferring the DNA reference from a cluster of erroneous copies.
View Article and Find Full Text PDFOncol Lett
March 2025
Department of Obstetrics and Gynecology, Mie University School of Medicine, Tsu, Mie 514-8507, Japan.
Ovarian cancer has a poor prognosis, and screening methods have not been established. Biomarkers based on molecular genetic characteristics must be identified to develop diagnostic and therapeutic strategies for all cancer types, particularly ovarian cancer. The present study aimed to evaluate the usefulness of genetic analysis of cervical and endometrial liquid-based cytology (LBC) specimens for detecting somatic mutations in patients with ovarian cancer.
View Article and Find Full Text PDFClin Genet
January 2025
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
In 2021, the Indian Undiagnosed Diseases Program was initiated for patients without a definite diagnosis despite extensive evaluation in four participating sites. Between February 2021 and March 2023, a total of 88 patients were recruited and underwent deep phenotyping. A uniform methodology for data re-analysis was implemented as the first step prior to conducting additional genomic testing.
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