This study in SRF limited a technical textile business organization studies the stress factors for the employees and recommends the solution for minimizing the stress effects. High stress jobs refer to work, which involves hectic schedule... more
This study in SRF limited a technical textile business organization studies the stress factors for the employees and recommends the solution for minimizing the stress effects. High stress jobs refer to work, which involves hectic schedule and complex job responsibilities that result into imbalance between personal and work life. This study is limited within the Low level of employees.
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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 In an unpublished problem collection, Motzkin asked to find maximal upper asymptotic density,... more
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 In an unpublished problem collection, Motzkin asked to find maximal upper asymptotic density, denoted by $\mu(M)$, of $M$-sets. The first published work on $\mu(M)$ is due to Cantor and Gordon in 1973, in which, they found the exact value of $\mu(M)$ when $|M| \leq 2$. In fact, this is the only general case, in which, we have a closed formulae for $\mu(M)$. If $|M| \geq 3$, then the exact value of $\mu(M)$ is not known for the general set $M$. In the past six decades or so, several attempts have been given to study $\mu(M)$ but $\mu(M)$ has been found exactly or estimated only in very few cases. In this paper, we study $\mu(M)$ for the families $M = \{ a,a+1,x \}$ and $M = \{ a,a+1,x,y \}$, where $y-x \leq 2$ and $y \gt x \gt a+1$. Our results in the case of $M = \{ a,a+1,x \}$ also give counterexamples to a conjecture of Carraher. Although, ...
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An innovative theoretical approach for deeper understanding of the ultrafast spectroscopy experiments through solution of the Boltzmann transport equation coupled with various nonlinear scattering mechanisms, overcoming the limitations... more
An innovative theoretical approach for deeper understanding of the ultrafast spectroscopy experiments through solution of the Boltzmann transport equation coupled with various nonlinear scattering mechanisms, overcoming the limitations offered by DFT, RT-TDDFT and molecular based methods, is reported. A clear advantage of the real-time approach is that it does not make a priori assumptions about specific scattering, relaxation mechanisms and has capabilities to capture the full real-time carrier’s dynamics, including the superposition of all electron–electron, electron-lattice and electron–phonon scatterings etc. No such method with advances in theoretical treatments to explain ultrafast spectroscopy has been reported previously as per the author’s knowledge.
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Infection born by Coronavirus SARS-CoV-2 has swept the world within a time of a few months. It has created a devastating effect on humanity with social and economic depressions. Europe and America were the hardest hit continents. India... more
Infection born by Coronavirus SARS-CoV-2 has swept the world within a time of a few months. It has created a devastating effect on humanity with social and economic depressions. Europe and America were the hardest hit continents. India has also lost several lives, making the country fourth most deadly worldwide. However, the infection and death rate per million and the case fatality ratio in India were substantially lower than many of the developed nations. Several factors have been proposed including the genetics. One of the important facts is that a large chunk of Indian population is asymptomatic to the SARS-CoV-2 infection. Thus, the real infection in India is much higher than the reported number of cases. Therefore, the majority of people are already immune in the country. To understand the dynamics of real infection as well as level of immunity against SARS-CoV-2, we have performed antibody testing (serosurveillance) in the urban region of fourteen Indian districts encompassin...
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With the growing evidence on the variable human susceptibility against COVID-19, it is evident that some genetic loci modulate the severity of the infection. Recent studies have identified several loci associated with greater severity.... more
With the growing evidence on the variable human susceptibility against COVID-19, it is evident that some genetic loci modulate the severity of the infection. Recent studies have identified several loci associated with greater severity. More recently, a study has identified a 50 kb genomic segment introgressed from Neanderthal adding a risk for COVID-19, and this genomic segment is present among 16% and 50% people of European and South Asian descent, respectively. Our studies on ACE2 identified a haplotype present among 20% and 60% of European and South Asian populations, respectively, which appears to be responsible for the low case fatality rate among South Asian populations. This result was also consistent with the real-time infection rate and case fatality rate among various states of India. We readdressed this issue using both of the contrasting datasets and compared them with the real-time infection rates and case fatality rate in India. We found that the polymorphism present i...
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An optimized empirical pseudopotential method (EPM) in conjunction with virtual crystal approximation (VCA) and the compositional disorder effect is used for simulation to extract the electronic material parameters of wurtzite nitride... more
An optimized empirical pseudopotential method (EPM) in conjunction with virtual crystal approximation (VCA) and the compositional disorder effect is used for simulation to extract the electronic material parameters of wurtzite nitride alloys to ensure excellent agreement with the experiments. The proposed direct bandgap results of group-III nitride alloys are also compared with the different density functional theories (DFT) based theoretical results. The model developed in current work, significantly improves the accuracy of calculated band gaps as compared to the ab-initio method based results. The physics of carrier transport in binary and ternary nitride materials is investigated with the help of in-house developed Monte Carlo algorithms for solution of Boltzmann transport equation (BTE) including nonlinear scattering mechanisms. Carrier–carrier scattering mechanisms defined through Coulomb-, piezoelectric-, ionized impurity-, surface roughness-scattering with acoustic and inter...
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The archipelago of Lakshadweep is considered as a stopover to the maritime route since ancient time. It is not very clear when the human first occupied these islands, however in the long history of the islands, the local legends suggest... more
The archipelago of Lakshadweep is considered as a stopover to the maritime route since ancient time. It is not very clear when the human first occupied these islands, however in the long history of the islands, the local legends suggest that Lakshadweep has been ruled by different kingdoms. To have a better understanding of peopling of Lakshadweep, we have analysed 557 individuals from eight major islands for mitochondrial DNA and 166 individuals for Y chromosome markers. We found a strong founder effect for both paternal and maternal lineages. Moreover, we report a close genetic link of Lakshadweep islanders with the Maldives, Sri Lanka and India. Most of the Lakshadweep islands share the haplogroups specific to South Asia and West Eurasia, except Minicoy Island that also shares haplogroups of East Eurasia. The paternal and maternal ancestries of the majority of island populations suggest their arrival from distinct sources. We found that the maternal ancestry was closer to South I...
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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... more
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 some bounds for the maximal density when the elements of M are generalized Fibonacci numbers of odd order. The generalized Fibonacci sequence of order r is a generalization of the well known Fibonacci sequence, where instead of starting with two predetermined terms, we start with r predetermined terms and each term afterwards is the sum of r preceding terms. We also derive some new properties of the generalized Fibonacci sequence of order r. Furthermore, we discuss some related coloring parameters of distance graphs generated by the set M.
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Both classical and recent genetic studies have unanimously concluded that the genetic landscape of South Asia is unique. At long distances the ‘isolation-by-distance’ model appears to correspond well with the genetic data, whereas at... more
Both classical and recent genetic studies have unanimously concluded that the genetic landscape of South Asia is unique. At long distances the ‘isolation-by-distance’ model appears to correspond well with the genetic data, whereas at short distances several other factors, including the caste, have been shown to be strong determinant factors. In addition with these, tribal populations speaking various languages add yet another layer of genetic complexity. The Kol are the third most populous tribal population in India, comprising communities speaking Austroasiatic languages of the Northern Munda branch. Yet, the Kol have not hitherto undergone in-depth genetic analysis. In the present study, we have analysed two Kol groups of central and western India for hundreds thousands of autosomal and several mitochondrial DNA makers to infer their fine genetic structure and affinities to other Eurasian populations. In contrast, with their known linguistic affinity, the Kol share their more rece...
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Medical genomics research performed in diverse population facilitates a better understanding of the genetic basis of developmental disorders, with regional implications for community genetics. Autosomal recessive mitochondrial complex I... more
Medical genomics research performed in diverse population facilitates a better understanding of the genetic basis of developmental disorders, with regional implications for community genetics. Autosomal recessive mitochondrial complex I deficiency (MCID) accounts for a constellation of clinical features, including encephalopathies, myopathies, and Leigh Syndrome. Using whole-exome sequencing, we identified biallelic missense variants in NDUFV1 that encodes the 51-kD subunit of complex I (NADH dehydrogenase) NDUFV1. Mapping the variants on published crystal structures of mitochondrial complex I demonstrate that the novel c.1118T > C (p.(Phe373Ser)) variant is predicted to diminish the affinity of the active pocket of NDUFV1 for FMN that correlates to an early onset of debilitating MCID symptoms. The c.1156C > T (p.(Arg386Cys)) variant is predicted to alter electron shuttling required for energy production and correlate to a disease onset in childhood. NDUFV1 c.1156C > T (p.(...
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CHARGE syndrome-which stands for coloboma of the eye, heart defects, atresia of choanae, retardation of growth/development, genital abnormalities, and ear anomalies-is a severe developmental disorder with wide phenotypic variability,... more
CHARGE syndrome-which stands for coloboma of the eye, heart defects, atresia of choanae, retardation of growth/development, genital abnormalities, and ear anomalies-is a severe developmental disorder with wide phenotypic variability, caused mainly by mutations in(chromodomain helicase DNA-binding protein 7), known to encode a chromatin remodeler. The genetic lesions responsible formutation-negative cases are unknown, at least in part because the pathogenic mechanisms underlying CHARGE syndrome remain poorly defined. Here, we report the characterization of a mouse model formutation-negative cases of CHARGE syndrome generated by insertional mutagenesis of(family with sequence similarity 172, member A). We show that Fam172a plays a key role in the regulation of cotranscriptional alternative splicing, notably by interacting with Ago2 (Argonaute-2) and Chd7. Validation studies in a human cohort allow us to propose that dysregulation of cotranscriptional alternative splicing is a unifying...
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De novo truncating mutations in Additional sex combs-like 3 (ASXL3) have been identified in individuals with Bainbridge-Ropers Syndrome (BRS), characterized by failure to thrive, global developmental delay, feeding problems, hypotonia,... more
De novo truncating mutations in Additional sex combs-like 3 (ASXL3) have been identified in individuals with Bainbridge-Ropers Syndrome (BRS), characterized by failure to thrive, global developmental delay, feeding problems, hypotonia, dysmorphic features, profound speech delays and intellectual disability. We identified three novel de novo heterozygous truncating variants distributed across ASXL3, outside the original cluster of ASXL3 mutations previously described for BRS. Primary skin fibroblasts established from a BRS patient were used to investigate the functional impact of pathogenic variants. ASXL3 mRNA transcripts from the mutated allele are prone to nonsense-mediated decay and expression of ASXL3 is reduced. We found that ASXL3 interacts with BAP1, a hydrolase that removes mono-ubiquitin from histone H2A lysine 119 (H2AK119Ub1) as a component of the Polycomb repressive deubiquitination (PR-DUB) complex. A significant increase in H2AK119Ub1 was observed in ASXL3 patient fibr...
Research Interests: Genetics, Biology, Intellectual Disability, Medicine, Biological Sciences, and 15 moreHumans, Mutation, Female, Male, Human Molecular Genetics, Developmental disabilities, Chromatin, Histones, Primary Cell Culture, Histone, Gene Expression Regulation, Child preschool, fibroblasts, Language Development Disorders, and Medical and Health Sciences
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Research Interests: Engineering, Genetics, Chemistry, Cardiology, Biology, and 15 moreMedicine, Humans, Internal Medicine, Left Ventricular Assist Device, Female, Male, Left Ventricular Dysfunction, Genotype, Coronary Artery Disease, Ejection Fraction, Clinical Presentation, Cardiac failure, Left Ventricle, left ventricle ejection fraction, and Left Ventricular
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Research Interests: Genetics, Biology, Medicine, Hepatology, Cell line, and 13 moreHumans, Cholesterol, Alternative splicing, Clinical Sciences, Single Nucleotide Polymorphism, Lipoproteins, Linkage Disequilibrium, Alternative Splicing, Allele, Gallstones, Case Control Studies, alleles, and Medical biochemistry and metabolomics
Background:ATP-binding cassette transporter ABCG8 plays an important role in excretion of cholesterol from liver. Common genetic polymorphisms inABCG8gene may genetically predispose an individual to coronary artery disease (CAD) along... more
Background:ATP-binding cassette transporter ABCG8 plays an important role in excretion of cholesterol from liver. Common genetic polymorphisms inABCG8gene may genetically predispose an individual to coronary artery disease (CAD) along with response to atorvastatin therapy. Thus, we aimed to examine the role ofABCG8D19H polymorphism (rs11887534) in susceptibility to CAD and its influence on atorvastatin response.Methodology:The study included 213 CAD patients and 220 controls. Genotyping ofABCG8D19H polymorphism was done by PCR-RFLP.Results:Our results showed that ABCG8 ‘H’ allele was conferring significant risk for CAD in a dominant model (OR = 2.54;p= 0.014). This increased risk for CAD was more pronounced in males (OR = 2.69;p= 0.030). No correlation ofABCG8genotypes with the risk factors (diabetes, hypertension and smoking) of CAD was observed. On atorvastatin treatment there was a significant decrease in the LDL-C levels (p= 0.021). However, stepwise multiple regression analysis...
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Research Interests: Medicine, Humans, Internal Medicine, Female, Male, and 14 moreRisk factors, Phenotype, Clinical Sciences, Middle Aged, Genotype, Coronary Angiography, Single Nucleotide Polymorphism, Odds ratio, Chi Square Distribution, Risk Factors, Coronary Artery Disease, Allele, Logistic Models, and Case Control Studies
ABSTRACTDuring 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... more
ABSTRACTDuring 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 Polycomb transcriptional regulation in this process. ASXL3, which encodes a component of the Polycomb repressive deubiquitination (PR-DUB) complex, has been identified as a high confidence autism spectrum disorder (ASD) risk gene. Genetic inactivation of Asxl3, in a mouse model that carries a clinically relevant ASXL3 frameshift (Asxl3fs) variant, disrupts lateral expansion of NPCs and delays cortical neuron differentiation. Single-cell RNA sequencing analysis implicates Notch signaling, which alters the composition of excitatory neurons and fidelity of cortical layer deposition. Our data provides a new link between extrinsic signaling cues and intrinsic epigenetic regulation that together control the timing of cell fate programs. Furthermore...
Research Interests: Neuroscience and Biology
Skin inflammation and photosensitivity are common in patients with cutaneous lupus erythematosus (CLE) and systemic lupus erythematosus (SLE), yet little is known about the mechanisms that regulate these traits. Here we investigate the... more
Skin inflammation and photosensitivity are common in patients with cutaneous lupus erythematosus (CLE) and systemic lupus erythematosus (SLE), yet little is known about the mechanisms that regulate these traits. Here we investigate the role of interferon kappa (IFN-κ) in regulation of type I interferon (IFN) and photosensitive responses and examine its dysregulation in lupus skin. mRNA expression of type I IFN genes was analysed from microarray data of CLE lesions and healthy control skin. Similar expression in cultured primary keratinocytes, fibroblasts and endothelial cells was analysed via RNA-seq. knock-out (KO) keratinocytes were generated using CRISPR/Cas9. Keratinocytes stably overexpressing IFN-κ were created via G418 selection of transfected cells. IFN responses were assessed via phosphorylation of STAT1 and STAT2 and qRT-PCR for IFN-regulated genes. Ultraviolet B-mediated apoptosis was analysed via TUNEL staining. In vivo protein expression was assessed via immunofluoresce...
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PurposeCHARGE syndrome is an autosomal-dominant, multiple congenital anomaly condition characterized by vision and hearing loss, congenital heart disease, and malformations of craniofacial and other structures. Pathogenic variants in... more
PurposeCHARGE syndrome is an autosomal-dominant, multiple congenital anomaly condition characterized by vision and hearing loss, congenital heart disease, and malformations of craniofacial and other structures. Pathogenic variants in CHD7, encoding adenosine triphosphate-dependent chromodomain helicase DNA binding protein 7, are present in the majority of affected individuals. However, no causal variant can be found in 5-30% (depending on the cohort) of individuals with a clinical diagnosis of CHARGE syndrome.MethodsWe performed whole-exome sequencing (WES) on 28 families from which at least one individual presented with features highly suggestive of CHARGE syndrome.ResultsPathogenic variants in CHD7 were present in 15 of 28 individuals (53.6%), whereas 4 (14.3%) individuals had pathogenic variants in other genes (RERE, KMT2D, EP300, or PUF60). A variant of uncertain clinical significance in KDM6A was identified in one (3.5%) individual. The remaining eight (28.6%) individuals were ...
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Covalent histone modifications play an essential role in gene regulation and cellular specification required for multicellular organism development. Monoubiquitination of histone H2A (H2AUb1) is a reversible transcriptionally repressive... more
Covalent histone modifications play an essential role in gene regulation and cellular specification required for multicellular organism development. Monoubiquitination of histone H2A (H2AUb1) is a reversible transcriptionally repressive mark. Exchange of histone H2A monoubiquitination and deubiquitination reflects the succession of transcriptional profiles during development required to produce cellular diversity from pluripotent cells. Germ-line pathogenic variants in components of the H2AUb1 regulatory axis are being identified as the genetic basis of congenital neurodevelopmental disorders. Here, we review the human genetics findings coalescing on molecular mechanisms that alter the genome-wide distribution of this histone modification required for development.
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The iron-sulfur (Fe-S) cluster (ISC) biogenesis pathway is indispensable for many fundamental biological processes and pathogenic variations in genes encoding several components of the Fe-S biogenesis machinery, such as NFU1, BOLA3, IBA57... more
The iron-sulfur (Fe-S) cluster (ISC) biogenesis pathway is indispensable for many fundamental biological processes and pathogenic variations in genes encoding several components of the Fe-S biogenesis machinery, such as NFU1, BOLA3, IBA57 and ISCA2 are already implicated in causing four types of multiple mitochondrial dysfunctions syndromes (MMDS) among other human diseases. MMDS are clinically characterized by neurodevelopmental delay, neurological deterioration, lactic acidosis, extensive white matter abnormalities and early death. We report on two unrelated families, with two affected children each with neurodevelopmental delay, regression of developmental milestones, seizures, extensive white matter abnormalities, cortical migrational abnormalities, lactic acidosis and early demise. Exome sequencing of two affected individuals, one from each family, revealed a homozygous c.259G>A variant in ISCA1 and Mendelian segregation was confirmed in both families. ISCA1 is a specialized...
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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... more
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 population disease susceptibility. The haplotype-based genetic sharing and structure of TMPRSS2 among global populations have not been studied so far. Therefore, in the present work, we used this approach with a focus on South Asia to study the haplotypes and their sharing among various populations worldwide. We have used next-generation sequencing data of 393 individuals and analysed the TMPRSS2 gene. Our analysis of genetic relatedness for this gene showed a closer affinity of South Asians with the West Eurasian populations therefore, host disease susceptibility and severity particularly in the context of TMPRSS2 will be more akin to West Eurasian instead of East Eurasian. This is in contrast to our prior study on ACE2 gene which shows South Asian h...