Publications by authors named "P M Kakadia"
Craniofrontonasal syndrome (CFNS) is an X-linked developmental disorder caused by loss of function variants (LOFVs) in the ephrin B1 (EFNB1) gene located on Xq13.1. In CFNS, unlike in other X-linked disorders, females with heterozygous EFNB1 pathogenic variants (PVs) have a severe phenotype, whereas males carrying hemizygous EFNB1 PVs have a mild phenotype.
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- Hypomethylating agents (HMAs) are key treatments for Myelodysplastic Neoplasms (MDS) and Acute Myeloid Leukemia (AML), but patients often develop resistance and experience treatment failure.
- Researchers conducted a genome-wide CRISPR-Cas9 screen in MDS-derived cells, discovering that targeting the gene TOPORS enhances the effectiveness of HMAs by making cancer cells more vulnerable to DNA damage.
- The study suggests that combining HMAs with strategies to inhibit SUMOylation or TOPORS could be an effective treatment approach for patients with high-risk MDS or AML, without harming normal blood cell production.
ATP2B1 encodes plasma membrane calcium-transporting-ATPase1 and plays an essential role in maintaining intracellular calcium homeostasis that regulates diverse signaling pathways. Heterozygous de novo missense and truncating ATP2B1 variants are associated with a neurodevelopmental phenotype of variable expressivity. We describe a proband with distinctive craniofacial gestalt, Pierre-Robin sequence, neurodevelopmental and growth deficit, periventricular heterotopia, brachymesophalangy, cutaneous syndactyly, and persistent hypocalcemia from primary hypoparathyroidism.
View Article and Find Full Text PDFBackground: Diagnostic modalities for diagnosing Tuberculosis caused by Mycobacterium group of organisms include mainly AFB smear by Ziehl Neelsen carbol fuchsin smear microscopy, GeneXpert (CB NAAT) molecular method, Line probe assay (Molecular method) and AFB culture (Liquid automated systems and solid media) methods.
Methods: This study was initiated to understand and prioritize TB lab diagnosis, with reference to selection of lab diagnostic tests and its order of preference for MTC and NTM/MOTT closely associating it with the TB irradication program initiated by the Government of India.
Result And Conclusion: The results and discussion bring to light the importance of each test and the purpose of their requisition.