Results 31 to 40 of about 172 (116)

Liquid Biopsy: Past, Present, and Future

open access: yesMedComm, Volume 7, Issue 11, November 2026.
Liquid biopsy has expanded from cancer genotyping to a broader strategy for probing both oncologic and nononcologic conditions through circulating analytes and multilayer molecular readouts. This review traces the field's past, present, and future—summarizing where liquid biopsy is most actionable today, why performance varies across contexts, and ...
Jiachen Liu   +8 more
wiley   +1 more source

Insights Gained From the Study of Pediatric Systemic Lupus Erythematosus

open access: yesFrontiers in Immunology, 2018
The pathophysiology of systemic lupus erythematosus (SLE) has been intensely studied but remains incompletely defined. Currently, multiple mechanisms are known to contribute to the development of SLE.
Mindy S. Lo, Mindy S. Lo
doaj   +1 more source

Multi‐omics–driven precision medicine

open access: yesiMeta, Volume 5, Issue 5, October 2026.
Multi‐omics‐driven precision medicine (MODPM) provides a multiscale, continuously learnable framework that integrates genomics, epigenomics, transcriptomics, proteomics, metabolomics, microbiome profiles, and clinical data. Powered by artificial intelligence and foundation models, MODPM enables cross‐modal representation learning, contextual modeling ...
Huibo Li   +20 more
wiley   +1 more source

Hypertriglyceridemia: Causes, Consequences, Diagnosis, and Management

open access: yesMedComm, Volume 7, Issue 10, October 2026.
Hypertriglyceridemia (HTG) arises from the interplay between genetic susceptibility and secondary or precipitating factors, leading to dysregulated triglyceride‐rich lipoprotein (TRL) metabolism. Increased TRL production and impaired clearance promote distinct risk phenotypes: accumulation of apolipoprotein B(apoB)‐containing TRL remnants contributes ...
Shanshan Qi   +9 more
wiley   +1 more source

How (Ultra‐)Rare Gene Variants Improve Our Understanding of More Common Autoimmune and Inflammatory Diseases

open access: yesACR Open Rheumatology
The aim of this study was to explore the impact of rare and ultra‐rare genetic variants on the understanding and treatment of autoimmune and autoinflammatory diseases with a focus on systemic lupus erythematosus (SLE) and Behçet syndrome.
Alexandre Belot   +5 more
doaj   +1 more source

Simultaneous Onset of Pediatric Systemic Lupus Erythematosus in Twin Brothers: Case Report

open access: yesFrontiers in Pediatrics, 2022
There are hundreds of twin adult patients with systemic lupus erythematosus (SLE), but male children with SLE are rarely affected. Two monozygotic twin brothers developed SLE at the age of 11 years during 1 month. The index brother manifested with Henoch-
Rinat K. Raupov   +6 more
doaj   +1 more source

Identification of Variants in Two Families With Congenital Cataract by Whole Exome Sequencing

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 10, October 2026.
We describe likely pathogenic missense variants causing congenital cataract and investigate these variants using high‐throughput gene sequencing, Sanger sequencing, bioinformatics, and computational biology tools. Our findings provide novel insights into the molecular diagnosis of congenital cataract and have important implications for genetic ...
Yazhou Huang   +8 more
wiley   +1 more source

Monogenic lupus: insights into disease pathogenesis and therapeutic opportunities

open access: yesCurrent Opinion in Rheumatology
Purpose of review This review aims to provide an overview of the genes and molecular pathways involved in monogenic lupus, the implications for genome diagnosis, and the potential therapies targeting these molecular mechanisms.
Qin, Yuting   +2 more
openaire   +2 more sources

Clinical characteristics and prognostic value of autoantibody profile in children with monogenic lupus

open access: yesJournal of Rheumatic Diseases, 2023
To report the frequency of selected autoantibodies and their associations with clinical features in Arab children with monogenic lupus.This study was retrospective single-center study of genetically confirmed monogenic lupus cases at childhood lupus clinic at King Faisal Specialist Hospital and Research Center, from June 1997 to July 2022.
Sulaiman M. Al-Mayouf   +4 more
openaire   +2 more sources

Mechanism and target treatment of primary immunodeficiency diseases with systemic lupus erythematosus‐like phenotype

open access: yesPediatric Discovery
Primary immunodeficiency diseases (PIDs) present a heterogeneous group of diseases with aberrant immune response caused by monogenic mutations. Due to the immune dysfunction and dysregulation, PIDs have a wide clinical spectrum such as infections ...
Shan Liu   +4 more
doaj   +1 more source

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