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[Analysis of a Chinese pedigree with hereditary spherocytosis caused by intron variation of SPTB gene].
Zhonghua Er Ke Za Zhi
March 2025
Department of Pediatrics, First Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710061, China.
To analyze a novel intronic variant in the SPTB gene and explore its effect on SPTB mRNA splicing. Clinical data of a child diagnosed with hereditary spherocytosis (HS) and admitted to the First Affiliated Hospital of Xi'an Jiaotong University in February 2022 were analyzed retrospectively. Whole genome sequencing was used to identify disease-causing mutations and the results were validated with Sanger sequencing, mRNA sequencing was used to determine the SPTB gene's mRNA expression level, and bioinformatics tools were used for splicing site prediction and analysis.
View Article and Find Full Text PDFDisparate X-linked retinoschisis phenotypes in fraternal twins with the same pathogenic variant in the gene.
Ophthalmic Genet
March 2025
Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Introduction: In X-linked retinoschisis (XLRS), the RS1 pathogenic variant and the patient's age might be the most important determinants of the XLRS phenotype. In this case report, we present fraternal twins with the same RS1 pathogenic mutation who were examined at the same age yet exhibited significantly different phenotypes.
Methods: This is a retrospective case report.
Next-Generation Coronavirus Disease 2019 Vaccines: Clinical Data and Future Directions.
Infect Dis Clin North Am
March 2025
Center for Virology and Vaccine Research and Division of Infectious Diseases, Beth Israel Deaconess Medical Center, 330 Brookline E/CLS-1037, Boston, MA 02215, USA; Harvard Medical School, Boston, MA, USA; Ragon Institute of MGH, MIT and Harvard, Cambridge, MA, USA. Electronic address:
Current coronavirus disease 2019 (COVID-19) vaccines have prevented millions of deaths since the beginning of the pandemic. Yet, current vaccines have critical limitations: (1) they elicit poor mucosal immune responses with reduced protection against infection and viral transmission, (2) immune responses wane quickly, and (3) new immune evasive severe acute respiratory syndrome coronavirus 2 variants continue to emerge. Next-generation vaccines aim to induce improved mucosal immunity via mucosal administration, and to elicit a greater duration and breadth of immune responses through new platforms like self-amplifying RNA.
View Article and Find Full Text PDFEarly manifestations of neurodevelopmental copy number variants in children: A population-based investigation.
Biol Psychiatry
March 2025
Wolfson Centre for Young People's Mental Health, Cardiff University; Centre for Neuropsychiatric Genetics and Genomics, Cardiff University. Electronic address:
Background: There is clinical interest in recognising copy number variants (CNVs) in children as many have immediate and long-term health implications. Neurodevelopmental CNVs are associated with intellectual disability, autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD), conditions typically diagnosed by medical practitioners. However, neurodevelopmental CNVs may have additional, early developmental impacts that have yet to be examined in unselected populations.
View Article and Find Full Text PDFIRF2BP2 Deficiency: An important form of common variable immunodeficiency with inflammation.
J Allergy Clin Immunol
March 2025
National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA. Electronic address:
Background: Interferon regulatory factor-2 binding protein-2 (IRF2BP2) is a transcription factor that plays an important role in regulating immune pathways, angiogenesis, apoptosis, and cell differentiation. Defects in this gene have been implicated in immunodeficiency.
Objective: To deepen the understanding of the clinical implications of IRF2BP2 variants, we sought to clinically characterize and functionally test thirty-four individuals with IRF2BP2 variants.
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