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| http://dx.doi.org/10.3324/haematol.2017.170266 | DOI Listing |
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Monoallelic expression can govern penetrance of inborn errors of immunity.
Nature
January 2025
Columbia Center for Genetic Errors of Immunity, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Article Synopsis
- Inborn errors of immunity (IEIs) are genetic disorders that increase the risk of infections, autoimmunity, and other health issues, and often show incomplete penetrance despite being caused by single gene mutations.
- This study examines how autosomal random monoallelic expression (aRMAE)—where only one allele of a gene is actively expressed—contributes to the variability in disease outcomes among individuals within families with IEIs.
- The findings reveal that specific gene expression patterns related to aRMAE can influence clinical phenotypes, suggesting that understanding both genetic and expression variations is crucial for analyzing the impact of monogenic disorders.
Pan-cancer single cell and spatial transcriptomics analysis deciphers the molecular landscapes of senescence related cancer-associated fibroblasts and reveals its predictive value in neuroblastoma via integrated multi-omics analysis and machine learning.
Front Immunol
December 2024
Department of Urology, Children's Hospital of Chongqing Medical University, Chongqing, China.
Introduction: Cancer-associated fibroblasts (CAFs) are a diverse group of cells that significantly contribute to reshaping the tumor microenvironment (TME), and no research has systematically explored the molecular landscapes of senescence related CAFs (senes CAF) in NB.
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Amyloid beta-induced signalling in leptomeningeal cells and its impact on astrocyte response.
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School of Engineering, Bernal Institute, University of Limerick, Limerick, Ireland.
The pathological signature of Alzheimer's disease (AD) includes the accumulation of toxic protein aggregates, mainly consisting of amyloid beta (Aβ). Recent strides in fundamental research underscore the pivotal role of waste clearance mechanisms in the brain suggesting it may be an early indication of early onset AD. This study delves into the involvement of leptomeningeal cells (LMCs), crucial components forming integral barriers within the clearance system, in the context of AD.
View Article and Find Full Text PDFRapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.
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Center for Child and Adolescent Health, Helios Hospital Krefeld, Academic Hospital of RWTH Aachen, Krefeld.
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- Primary atopic disorders (PAD) are rare genetic conditions caused by specific gene variants that affect skin and immune function, making diagnosis challenging among common allergic disease cases.
- Identifying PAD requires recognizing clinical red flags like family history and unusual infections, as conventional lab tests are inadequate for definitive diagnosis.
- Whole-genome sequencing (WGS) enhances diagnostic efficiency and accuracy, but requires careful interpretation and collaboration among specialists to effectively manage PAD cases.
Association between myeloid disorders and adult onset-inflammatory syndromes, successful treatment with JAK-inhibitors: Case series and literature review.
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November 2024
Leukemia and Myeloid Disorders, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH, United States. Electronic address:
Article Synopsis
- * Recent findings link patients with mutations in the UBA1 gene to VEXAS syndrome, and a case-series highlights elderly patients showing inflammatory symptoms alongside myeloid disorders.
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