Publications by authors named "Shalini Reshmi-Skarja"
Article Synopsis
- The t(9;14)(p13;q32) translocation involving PAX5 and IGH genes, previously thought to be common in lymphoplasmacytic lymphoma, was not found in a study of patients with this condition.
- Recent research, including analysis of Waldenström's macroglobulinemia cases, indicated possible distinct mechanisms for nodal and marrow-based lymphoplasmacytic lymphomas, as the t(9;14) was absent.
- Findings from the study suggest that the t(9;14) translocation is uncommon in lymphoplasmacytic lymphoma and should not be regarded as a defining feature according to World Health Organization criteria.
Triple A syndrome is a rare, autosomal recessive disorder characterized by alacrima, achalasia, and adrenal insufficiency. Previous studies have shown that the triple A gene (AAAS) maps to chromosomal band 12q13. Mutations in the AAAS gene have been identified in triple A syndrome patients; however, the function of this gene is still obscure.
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