Publications by authors named "Ashitha S Niranjana Murthy"

Article Synopsis
  • * The study used whole exome sequencing (WES) on a family from India to explore the genetic causes of ASDs in siblings displaying clinical features associated with Smith-Magenis syndrome (SMS).
  • * Two inherited variants were found that contribute to the SMS features in the siblings, demonstrating how WES can shed light on the genetic complexity of syndromic ASDs and inform understanding of both syndromic and idiopathic types of ASD.
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Endometrial Cancer (EC) is one of the most common gynecological malignancies. Despite its prevalence, molecular pathways, such as the Sonic Hedgehog (SHH) pathway, have not been extensively studied in the context of EC. This study aims to explore the clinical implications of SHH expression in EC, potentially uncovering new insights into the disease's pathogenesis and offering valuable insights for therapeutic strategies in EC.

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Background: Cardiovascular disease (CVD) is one of the debilitating consequences of polycystic ovary syndrome (PCOS). Early diagnosis of metabolic syndrome (MetS) with a simple but accurate method can reduce the risk of progression to CVD in PCOS.

Aims: This study aimed to determine the accuracy of various anthropometric indices and lipid accumulation product (LAP), in assessing the risk of MetS in PCOS.

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Background: Biochemical complexity of seminal plasma and obesity has an important role in male infertility (MI); so far, it has not been possible to provide evidence of clinical significance for all of them.

Aims: Our goal here is to evaluate the correlation between biochemical markers with semen parameters, which might play a role in MI.

Study Setting And Design: We enlisted 100 infertile men as patients and 50 fertile men as controls to evaluate the sperm parameters and biochemical markers in ascertaining MI.

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An extensively studied cancer and Autism Spectrum Disorders (ASD) gene like PTEN provided an exclusive opportunity to map its mutational-landscape, compare and establish plausible genotypic predictors of ASD-associated phenotypic outcomes. Our exhaustive in silico analysis on 4252 SNPs using >30 tools identified increased mutational-density in exon7. Phosphatase domain, although evolutionarily conserved, had the most nsSNPs localised within signature regions.

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Autism Spectrum Disorders (ASD) are caused by disrupted neurodevelopment leading to socio-communication and behavioural abnormalities. Although genetic anomalies like Copy Number Variations (CNV) have been implicated in ASD, their overall genomic landscape and pathogenicity remain elusive. Therefore, we created a CNV map for ASD using 9337 cases and 5650 controls from SFARI database, statistically marked genomic regions with high and low frequencies of CNVs (i.

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