Publications by authors named "Ananthaneni Radhika"

Article Synopsis
  • * Analysis involved 2,431 cases and 1,265 healthy controls, revealing that individuals with the MTHFR variant had a significantly higher risk for conditions like respiratory distress, recurrent pregnancy loss, and intellectual disabilities.
  • * The MTHFR TT-genotype specifically indicated a high risk of abnormal phenotypes, emphasizing the importance of this genetic variant in neurodevelopmental and other health-related outcomes.
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Dyslipidemia is a major risk factor for the development of coronary artery disease (CAD). Understanding the genetic determinants of dyslipidemia can provide valuable information on the pathogenesis of CAD and aid in the development of early detection strategies. In this study, we used a Global Screening Array (GSA) to elucidate the genetic factors associated with dyslipidemia and their potential role in the prediction of CAD.

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This is the first reported case of prosaposin ( ) mutation from India manifesting as an acute neuronal Gaucher disease-like condition. A 2-month-old male baby presented with encephalopathy, resistant tonic-clonic seizures, moderate hepatosplenomegaly, hypotonia, and cherry red spot in the retinae. The child had anemia, thrombocytopenia, elevated chitotriosidase, and normal activity of acid sphingomyelinase and low normal activity of β-glucosidase 1 (β-glucocerebrosidase 1, GBA).

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