Search Results - "S Niranjana Murthy, Ashitha"
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SHH Signaling as a Key Player in Endometrial Cancer: Unveiling the Correlation with Good Prognosis, Low Proliferation, and Anti-Tumor Immune Milieu
Published in International journal of molecular sciences (01-10-2024)“…Endometrial Cancer (EC) is one of the most common gynecological malignancies. Despite its prevalence, molecular pathways, such as the Sonic Hedgehog (SHH)…”
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Comprehensive in silico mutational-sensitivity analysis of PTEN establishes signature regions implicated in pathogenesis of Autism Spectrum Disorders
Published in Genomics (San Diego, Calif.) (01-01-2021)“…An extensively studied cancer and Autism Spectrum Disorders (ASD) gene like PTEN provided an exclusive opportunity to map its mutational-landscape, compare and…”
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Visceral adiposity index and lipid accumulation product as diagnostic markers of metabolic syndrome in South Indians with polycystic ovary syndrome
Published in Journal of human reproductive sciences (01-07-2021)“…Background: Cardiovascular disease (CVD) is one of the debilitating consequences of polycystic ovary syndrome (PCOS). Early diagnosis of metabolic syndrome…”
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Assessment and establishment of correlation between reactive oxidation species, citric acid, and fructose level in infertile male individuals: A machine-learning approach
Published in Journal of human reproductive sciences (01-04-2021)“…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…”
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Integrated Functional Analysis Implicates Syndromic and Rare Copy Number Variation Genes as Prominent Molecular Players in Pathogenesis of Autism Spectrum Disorders
Published in Neuroscience (01-07-2020)“…•Identified 105 ‘Prominent CNV regions’ for ASD that were located across 56 loci and 20 chromosomes encompassing 537 genes.•Chromosome 16 contained highest…”
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Integrated in silico functional analysis predicts autism spectrum disorders to be burdened by deleterious variations within CHD8 core domains and its CHD7-binding motif
Published in Network modeling and analysis in health informatics and bioinformatics (Wien) (01-12-2022)“…Autism spectrum disorder (ASD) is a neurodevelopmental disorder presenting with social and communication deficits, restricted, repetitive behaviours and…”
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Novel association of PhosphoSerine PHosphatase (PSPH) gene mutations with male infertility identified through whole exome sequencing of South Indians
Published in Meta Gene (01-09-2021)“…Male infertility (MI) is mainly caused by spermatogenic failure, and despite long years of assisted reproductive therapy, a significant number of cases remain…”
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Whole exome sequencing of discordant diseases in Monozygotic twins with Down syndrome reveals mutations for Congenital Heart Defect and epileptic seizures
Published in Meta Gene (01-06-2017)“…Discordant phenotypes and diseases in Monozygotic twins (MZ) are always intriguing and genetics is the exclusive reason. Down syndrome is one such disorder,…”
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