Publications by authors named "Kristina V Wells"
Skeletal fracture resistance emerges from multiple components of bone structure like microarchitecture, matrix mineralization, and organization. These characteristics are engendered via mechanisms like the hypoxia-inducible factors (HIF) pathway, involving two paralogs, HIF-1α and HIF-2α. Under normoxia, HIF-α is targeted for degradation via von-Hippel Lindau (VHL); hypoxia enables HIF-α stabilization and induction of target genes.
View Article and Find Full Text PDFObjectives: Ageing and inflammation are associated with clonal haematopoiesis (CH), the emergence of somatic mutations in haematopoietic cells. This study details CH in patients with systemic vasculitis in association with clinical, haematological and immunological parameters.
Methods: Patients with three forms of vasculitis were screened for CH in peripheral blood by error-corrected sequencing.
Prostate cancer and bone: clinical presentation and molecular mechanisms.
Endocr Relat Cancer
September 2023
Prostate cancer (PCa) is an increasingly prevalent health problem in the developed world. Effective treatment options exist for localized PCa, but metastatic PCa has fewer treatment options and shorter patient survival. PCa and bone health are strongly entwined, as PCa commonly metastasizes to the skeleton.
View Article and Find Full Text PDFDiscovery of the VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome demonstrates that somatic mutations in haematological precursor cells can cause adult-onset, complex inflammatory disease. Unlike germline mutations, somatic mutations occur throughout the lifespan, are restricted to specific tissue types, and may play a causal role in non-heritable rheumatological diseases, especially conditions that start in later life. Improvements in sequencing technology have enabled researchers and clinicians to detect somatic mutations in various tissue types, especially blood.
View Article and Find Full Text PDFBackground: Birth tissue products from amnion, chorion, umbilical cord, amniotic fluid, or cord blood are frequently marketed as viable sources of stem cells and growth factors. It can be difficult for health care professionals to differentiate implied from explicit conclusions in reported product analyses.
Purpose: To provide an educational platform for health care professionals to interpret data presented in the promotion of birth tissue products.
Article Synopsis
- A study identified somatic mutations in the UBA1 gene as the cause of a newly recognized syndrome called VEXAS, which affects a significant portion of patients diagnosed with relapsing polychondritis (RP).
- Of the 92 RP patients tested, 7.6% had UBA1 mutations, with notable differences in clinical features, mortality rates, and accompanying health issues compared to those with typical RP.
- A clinical algorithm was developed to help identify patients with VEXAS among those diagnosed with RP, showing high sensitivity and specificity based on factors like male sex and specific blood test results.
Article Synopsis
- Adult-onset inflammatory syndromes can exhibit overlapping symptoms, and the study discovered that mutations in ubiquitin-related genes, particularly in UBA1, are linked to these disorders.
- Researchers utilized various methodologies, including exome sequencing and CRISPR technology, to identify mutations in patients with severe inflammatory conditions that typically develop in late adulthood.
- The findings indicate that these mutations lead to a significant change in immune response and could help define a new inflammatory disorder related to genetic abnormalities in UBA1.