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DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
Am J Hum Genet
January 2025
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany; Institute of Clinical Human Genetics, University Hospital Regensburg, 93053 Regensburg, Germany. Electronic address:
BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive.
View Article and Find Full Text PDFIL-17 as a putative hallmark of intense arthralgia and age-related serum immune mediator networks during acute chikungunya fever.
Inflamm Res
January 2025
Laboratório de Virologia Básica E Aplicada, Departamento de Microbiologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais-UFMG, Belo Horizonte, MG, Brazil.
Introduction: The present study aimed at evaluating the systemic profile and network connectivity of immune mediators during acute chikungunya fever (CHIKF) according to days of symptoms onset and ageing.
Methods: A total of 161 volunteers (76 CHIKF patients and 85 non-infected healthy controls) were enrolled.
Results And Discussion: Data demonstrated that a massive and polyfunctional storm of serum immune mediators was observed in CHIKF.
Ethnicity-specific patterns of epigenetic age acceleration in rheumatoid arthritis.
Geroscience
January 2025
Institute of Inflammation and Ageing, University of Birmingham, Birmingham, UK.
Rheumatoid arthritis (RA) is an age-related chronic inflammatory disease which may include accelerated biological ageing processes in its pathogenesis. To determine if increased biological age is associated with risk of RA and/or is present once disease is established. We used DNA methylation to compare biological age (epigenetic age) of immune cells in adults at risk of RA and those with confirmed RA, including twins discordant for RA.
View Article and Find Full Text PDFSingle-Cell and Bulk Transcriptomics Reveal the Immunosenescence Signature for Prognosis and Immunotherapy in Lung Cancer.
Cancers (Basel)
December 2024
College of Bioinformatics Science and Technology, Harbin Medical University, Harbin 150081, China.
Background: Immunosenescence is the aging of the immune system, which is closely related to the development and prognosis of lung cancer. Targeting immunosenescence is considered a promising therapeutic approach.
Methods: We defined an immunosenescence gene set (ISGS) and examined it across 33 TCGA tumor types and 29 GTEx normal tissues.
Regulation of Age-Related Lipid Metabolism in Ovarian Cancer.
Int J Mol Sci
January 2025
Division of Reproductive Sciences, Department of Obstetrics and Gynecology, Duke University School of Medicine, 701 West Main Street, Suite 510, Duke, P.O. Box 90534, Durham, NC 27701, USA.
The mortality rate of ovarian cancer (OC) remains the highest among female gynecological malignancies. Advanced age is the highest risk factor for OC development and progression, yet little is known about the role of the aged tumor microenvironment (TME). We conducted RNA sequencing and lipidomic analysis of young and aged gonadal adipose tissue from rat xenografts before and after OC formation.
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