Anshika Srivastava
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From dysbiosis to tumor progression: the microbiome’s role in head and neck squamous cell carcinoma (HNSCC) Open
Head and neck squamous cell carcinoma (HNSCC) is one of the leading health issues globally. Oral cavity harbors a rich variety of microbes, which are in charge of preserving homeostasis under healthy circumstances. Imbalance among this mic…
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations Open
CSMD1 ( Cub and Sushi Multiple Domains 1 ) is a well-recognized regulator of the complement cascade, an important component of the innate immune response. CSMD1 is highly expressed in the central nervous system (CNS) where emergent functio…
Novel genetic association of the Furin gene polymorphism rs1981458 with COVID-19 severity among Indian populations Open
SARS CoV-2, the causative agent for the ongoing COVID-19 pandemic, it enters the host cell by activating the ACE2 receptor with the help of two proteasesi.e., Furin and TMPRSS2. Therefore, variations in these genes may account for differen…
View article: In silico characterization and identification of compound heterozygous variants in H/ACA Ribonucleoprotein Assembly Factor (SHQ1) from Indian population
In silico characterization and identification of compound heterozygous variants in H/ACA Ribonucleoprotein Assembly Factor (SHQ1) from Indian population Open
A BSTRACT Background: H/ACA small nucleolar ribonucleoproteins (snoRNP) form a complex with multiple proteins to accomplish the pseudouridylation of rRNA. The assembly of H/ACA small nucleolar ribonucleoproteins (snoRNP) is initiated by H/…
View article: Mechanisms of mRNA processing defects in inherited <i>THOC6</i> intellectual disability syndrome
Mechanisms of mRNA processing defects in inherited <i>THOC6</i> intellectual disability syndrome Open
THOC6 is the genetic basis of autosomal recessive THOC6 Intellectual Disability Syndrome (TIDS). THOC6 facilitates the formation of the Transcription Export complex (TREX) tetramer, composed of four THO monomers. The TREX tetramer supports…
Aberrant extracellular matrix and cardiac development in models lacking the PR-DUB component ASXL3 Open
Background Clinical and research based genetic testing has uncovered genes that encode chromatin modifying complex components required for organogenesis. Covalent histone modifications play a key role in establishing transcriptional plasti…
View article: Genetic diversity and spatiotemporal distribution of SARS-CoV-2 alpha variant in India
Genetic diversity and spatiotemporal distribution of SARS-CoV-2 alpha variant in India Open
After the spill to humans, in the timeline of SARS-CoV-2, several positively selected variants have emerged. A phylogeographic study on these variants can reveal their spatial and temporal distribution. In December 2020, the alpha variant …
Genetic association of <i>TMPRSS2</i> rs2070788 polymorphism with COVID-19 Case Fatality Rate among Indian populations Open
SARS-CoV2, the causative agent for COVID-19, an ongoing pandemic, engages the ACE2 receptor to enter the host cell through S protein priming by a serine protease, TMPRSS2. Variation in the TMPRSS2 gene may account for the difference in pop…
Maximal Density of Integral Sets with Missing Differences and the Kappa Values Open
Let $M$ be a given set of positive integers. A set $S$ of nonnegative integers is said to be an $M$-set if $a,b \in S$ implies $a-b \notin M$. In an unpublished problem collection, Motzkin asked to find maximal upper asymptotic density, de…
ASXL3 controls cortical neuron fate specification through extrinsic self-renewal pathways Open
During corticogenesis, transcription plasticity is fundamental to the restriction of neural progenitor cell (NPC) multipotency and production of cortical neuron heterogeneity. Human and mouse genetic studies have highlighted the role of Po…
Genetic Association of ACE2 rs2285666 Polymorphism With COVID-19 Spatial Distribution in India Open
Studies on host-pathogen interaction have identified human ACE2 as a host cell receptor responsible for mediating infection by coronavirus (COVID-19). Subsequent studies have shown striking difference of allele frequency among Europeans an…
Most frequent South Asian haplotypes of ACE2 share identity by descent with East Eurasian populations Open
It was shown that the human Angiotensin-converting enzyme 2 (ACE2) is the receptor of recent coronavirus SARS-CoV-2, and variation in this gene may affect the susceptibility of a population. Therefore, we have analysed the sequence data of…
A Routing Table Poisoning Model for Peer-to-Peer (P2P) Botnets Open
Due to the global increase in mobile devices and cellular networks such as 3G, 4G, or LTE-A networks, the concept of the interpenetration of peer-to-peer (P2P) overlay networks in cellular environments has gained immense popularity among m…
Motzkin’s Maximal Density and Related Chromatic Numbers Open
This paper concerns the problem of determining or estimating the maximal upper density of the sets of nonnegative integers S whose elements do not differ by an element of a given set M of positive integers. We find some exact values and so…
Report of four novel variants in <i>ASNS</i> causing asparagine synthetase deficiency and review of literature Open
Peer Reviewed
Genotype-phenotype correlations in individuals with pathogenic<i>RERE</i>variants Open
Heterozygous variants in the arginine-glutamic acid dipeptide repeats gene (RERE) have been shown to cause neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH). Here, we report nine individuals with NE…
Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome Open
Significance A timely diagnosis is key for both survival and quality of life of children with CHARGE syndrome (coloboma, heart defects, atresia of choanae, retardation of growth/development, genital abnormalities, and ear anomalies). Such …
On the Maximal Density of Integral Sets Whose Differences Avoiding the Weighted Fibonacci Numbers Open
See the abstract in the attached pdf.