Publications by authors named "Christa L Wagner"
The mechanisms that drive T cell aging are not understood. We report that children and adult telomerase mutation carriers with short telomere length (TL) develop a T cell immunodeficiency that can manifest in the absence of bone marrow failure and causes life-threatening opportunistic infections. Mutation carriers shared T cell-aging phenotypes seen in adults 5 decades older, including depleted naive T cells, increased apoptosis, and restricted T cell repertoire.
View Article and Find Full Text PDFChronic obstructive pulmonary disease and pulmonary fibrosis have been hypothesized to represent premature aging phenotypes. At times, they cluster in families, but the genetic basis is not understood. We identified rare, frameshift mutations in the gene for nuclear assembly factor 1, NAF1, a box H/ACA RNA biogenesis factor, in pulmonary fibrosis-emphysema patients.
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- Short telomeres are linked to idiopathic pulmonary fibrosis, but only some cases involve mutations in telomerase genes; a family studied showed pulmonary fibrosis, infertility, and short telomeres.
- Exome sequencing revealed two mutations in the TINF2 gene, one being a deletion affecting splicing and the other a missense mutation, indicating complex genetic involvement in the condition.
- The study concludes that TINF2 mutations may play a role in familial pulmonary fibrosis and that infertility could occur before the onset of lung disease in some individuals with telomere syndromes.
Lung transplantation is the only intervention that prolongs survival in idiopathic pulmonary fibrosis (IPF). Telomerase mutations are the most common identifiable genetic cause of IPF, and at times, the telomere defect manifests in extrapulmonary disease such as bone marrow failure. The relevance of this genetic diagnosis for lung transplant management has not been examined.
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- * In a study, two men diagnosed with DC in their 50s showed serious health issues like pulmonary fibrosis and cancer, with family histories showing multiple affected generations.
- * Genetic testing revealed new mutations in the DKC1 gene on the X chromosome, suggesting that even females with these mutations can experience significant health problems due to skewed X-inactivation and lower telomerase RNA levels.
Introduction: Non-invasive measurement of cardiac output (CO) using bioreactance signals (NICOM) was recently validated in swine and human adults. The present study was designed to test the hypothesis that NICOM flow measurements can accurately measure CO and detect acute drug-induced changes in aortic blood flow (AoQ)≥10% in beagles.
Methods: Data from 5 anesthetized, open chest beagles used for preclinical screening of novel neuromuscular blocking drugs were analyzed for the study.