Publications by authors named "Srilakshmi Rajagopal"
Article Synopsis
- Long non-coding RNAs (lncRNAs) play a crucial role in gene regulation, but their involvement in human genetic diseases is not well understood.
- Researchers discovered that deleting a specific lncRNA region on chromosome 2 led to severe congenital limb malformations in humans, including features like shortened limbs and fused digits.
- The study identified a lncRNA named Maenli, which is essential for activating the engrailed-1 gene during limb development, revealing how mutations in lncRNA can contribute to Mendelian diseases.
Nephrotic syndrome (NS) is a kidney disease predominantly present in children with idiopathic condition; final stage of the disease progresses into end-stage renal disease. Generally, NS is treated using standard steroid therapy, however; most of the children are steroid sensitive and about 15-20% are non-responders (SRNS). Non-responsiveness of these children would be a risk with the possibility of mutational changes in podocyte genes (NPHS1, NPHS2, WT1, PLCE1).
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