Unveiling novel susceptibility genes for sarcoidosis by a cross-tissue transcriptome-wide association study. [PDF]
Sun X.
europepmc +1 more source
ABSTRACT Objective To compare the incidence of diabetes mellitus and its associations with hospitalisation and mortality in adults with multiple sclerosis (MS) and matched controls. Methods Using English primary care data from the Clinical Practice Research Datalink, linked to hospital and mortality records, we matched adults with MS with up to 10 ...
Yolanda Lau +8 more
wiley +1 more source
Comparative phylogenetic analysis of breast cancer susceptibility genes reveals evolutionary conservation supporting diagnostic barcode design. [PDF]
Rehman SU.
europepmc +1 more source
Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez +5 more
wiley +1 more source
A Cross-Tissue Transcriptome-Wide Association Study Identifies Novel Susceptibility Genes for Glomerular Diseases. [PDF]
Mao L, Xu L, Zhu T, Liu X, Li Z.
europepmc +1 more source
Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos +2 more
wiley +1 more source
Transcriptome and plasma proteome analyses identify susceptibility genes and proteins for alcohol-related hepatocellular carcinoma. [PDF]
Li Z +9 more
europepmc +1 more source
Distinct Systemic Sclerosis Phenotypes Related to Ethnicity: An Opportunity to Personalize Care?
Objective The objective is to describe and compare demographic, clinical, and serological characteristics of patients with systemic sclerosis (SSc) according to ethnic background. Methods Participants enrolled in the Canadian Scleroderma Research Group cohort who self‐identified to a single ethnicity group were included.
Danick Goulet +11 more
wiley +1 more source
From Adult to Adolescent: Alignment in Clinical Trials and Outcomes in Axial Spondyloarthritis
Spondyloarthritis (SpA) is a group of chronic inflammatory diseases encompassing axial and peripheral forms, with up to 20% of patients developing symptoms before age 16. Despite this substantial pediatric burden, treatment options for juvenile‐onset SpA (JSpA), particularly those with axial disease (axJSpA), remain limited.
Pamela F. Weiss +9 more
wiley +1 more source
Identifying Susceptibility Genes and Shared Genetic Architecture for Longevity and Muscle Weakness. [PDF]
Lin Y +13 more
europepmc +1 more source

