Publications by authors named "Daniel D Yu"
Article Synopsis
- Integrin alpha V is crucial for cell adhesion and signaling during development, and mutations in its gene (ITGAV) can lead to serious health issues.
- In three families, biallelic variants were found that caused either dysfunctional protein production or the integrin being misplaced, resulting in severe developmental problems like eye and brain abnormalities, inflammatory bowel disease, and immune issues.
- Studies in patient cells and zebrafish models confirmed these mutations resulted in impaired immune signaling and developmental defects, linking the ITGAV variants to a newly identified human disease.
Update on recurrent mutations in angioimmunoblastic T-cell lymphoma.
Int J Clin Exp Pathol
December 2021
Angioimmunoblastic T-cell lymphoma (AITL) is a subtype of peripheral T cell lymphoma (PTCL), defined by genetic alterations that induce abnormal immune activity and inflammatory disorders. Through recent discoveries using genomic studies, the identification of various recurrent mutations has provided greater insight and changed our understanding of the molecular genetics of the disease. By acknowledging these recurrent mutations and their affected pathways, the diagnosis, prognosis, treatment, and survival of AITL can be improved.
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