Publications by authors named "Anisha Pahuja"
Article Synopsis
- During kidney development in embryos, the ureteric bud and metanephric mesenchyme interact to promote kidney formation through gene regulation and signaling pathways.
- Researchers are now able to create kidney organoids from human pluripotent stem cells, using bioengineering techniques to create controlled environments for their growth.
- Recent advancements, including combining these organoids with organ-on-chip technology, aim to improve models for drug development and understanding kidney diseases, potentially leading to new therapeutic options.
Purpose: To report the association of procollagen-lysine 2-oxoglutarate 5-dioxygenase 2 (PLOD2) mutations with bilateral primary congenital glaucoma (PCG) in monozygotic twins and with nondominant juvenile-onset primary open-angle glaucoma (JOAG).
Methods: We utilized family-based whole-exome sequencing to detect disease-causing mutations in a pair of monozygotic twins with de-novo PCG and compared its existence in 50 nonfamilial cases of JOAG and 30 healthy controls. To validate the identified mutations, direct Sanger sequencing was performed.