Long-term hypokinesia increases sensitivity of the thymus to the hypoplastic effect of glucocorticoid preparation triamcinolone acetonide by potentiating the proapoptotic effect of the glucocorticoid.
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http://dx.doi.org/10.1007/s10517-008-0201-8 | DOI Listing |
Prenat Diagn
June 2024
Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Background: Enlarged cavum septum pellucidum (CSP) and hypoplastic thymus are proposed extra-cardiac fetal markers for 22q11.2 deletion syndrome. We sought to determine if they were part of the fetal phenotype of our cohort of fetuses with 22q11.
View Article and Find Full Text PDFPediatr Dev Pathol
April 2024
Tyks Laboratories, Genomics, Clinical Genetics, Turku University Hospital, Turku, Finland.
Coffin-Siris syndrome is an autosomal dominant disorder with neurological, cardiovascular, and gastrointestinal symptoms. Patients with Coffin-Siris syndrome typically have variable degree of developmental delay or intellectual disability, muscular hypotonia, dysmorphic facial features, sparse scalp hair, but otherwise hirsutism and fifth digit nail or distal phalanx hypoplasia or aplasia. Coffin-Siris syndrome is caused by pathogenic variants in 12 different genes including and .
View Article and Find Full Text PDFSci Adv
November 2023
Laboratory of Genome Integrity, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Thymic epithelial cells (TEC) control T cell development and play essential roles in establishing self-tolerance. By using -driven ablation of gene in TEC, we identified as a critical factor in TEC development. deficiency resulted in a hypoplastic thymus-evident from fetal stages into adulthood-in which a dramatic increase in the frequency of apoptotic TEC was observed.
View Article and Find Full Text PDFDiagnostics (Basel)
July 2023
Division of Obstetrics and Feto-Maternal Medicine, Department of Obstetrics and Gynaecology, Medical University of Vienna, 1090 Vienna, Austria.
The 22q11.2 deletion syndrome (22q11.2 DS) is known as the most common microdeletion syndrome.
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