Arthritis &Rheumatology, EarlyView.Objective Still disease represents a prototypical polygenic systemic autoinflammatory disease, characterized by recurrent systemic inflammation and dysregulation of innate immunity. Despite extensive clinical characterization, familial clustering Still disease remains unreported.
Longfang Chen +23 more
wiley +1 more source
Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing [PDF]
, 2017 JaeSang Ko +3 more
openalex +1 more source
ANK1 and EPB41 Variants and the Risk of Steroid‐Induced Osteonecrosis
Arthritis &Rheumatology, EarlyView.Objective Steroid‐induced osteonecrosis of the femoral head (SONFH) is a refractory skeletal disorder influenced by genetic and environmental factors. However, conclusive pathogenic genetic evidence remains elusive due to the limited exploration of rare damaging variants. In this study, we aimed to identify rare variants associated with SONFH.
Shengbao Chen +21 more
wiley +1 more source
The ageing holobiont: crosstalk between telomere dynamics, oxidative stress and the gut microbiome
Biological Reviews, EarlyView.ABSTRACT The gut tissue is at the frontline of early onset of ageing. It exhibits high cell turnover rates and rapid telomere shortening, which can have systemic effects on the developing or senescing organism. We conducted a literature review of studies on the crosstalk between telomere length dynamics, telomerase activity, oxidative stress, and gut ...
Michael L. Pepke +2 more
wiley +1 more source
The contribution of coding variants to the heritability of multiple cancer types using UK Biobank whole-exome sequencing data [PDF]
Naomi Wilcox +6 more
openalex +1 more source
Whole-exome sequencing of Finnish hereditary breast cancer families [PDF]
, 2016 Kirsi Määttä +6 more
openalex +1 more source
Clinical Pharmacology &Therapeutics, EarlyView.Risperidone is a commonly used antipsychotic for treating psychiatric illness in children and adolescents. There is a large variability in risperidone response and discontinuation rates remain high. Pharmacogenomics offers the opportunity to improve risperidone outcomes, yet studies in pediatric populations are limited.
Jack W. Staples +10 more
wiley +1 more source
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia [PDF]
, 2016 De Belleroche, JS
core +1 more source
Identification of Novel Genomic-Variant Patterns of OR56A5, OR52L1, and CTSD in Retinitis Pigmentosa Patients by Whole-Exome Sequencing [PDF]
, 2021 Ting‐Yi Lin +14 more
openalex +1 more source
The role of Rho GTPases in facial morphogenesis
Developmental Dynamics, EarlyView.The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley +1 more source