Kumarasamy Thangaraj
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View article: Revisiting the Evolution of Lactase Persistence: Insights from South Asian Genomes
Revisiting the Evolution of Lactase Persistence: Insights from South Asian Genomes Open
Lactase persistence (LP), the ability to digest lactose from milk into adulthood, is a classic example of natural selection in humans. Multiple mutations upstream of the LCT gene are associated with LP and have been previously shown to be …
View article: Genetic architecture of the Sindhi Indian population: a 19X-STR forensic analysis
Genetic architecture of the Sindhi Indian population: a 19X-STR forensic analysis Open
The X chromosome accounts for approximately 5% of the human genome and serves as a valuable marker in forensic and population genetics due to its uneven and asymmetrical pattern of inheritance. This unique trait enables significant applica…
View article: Investigating the demographic history of Sindhi population inhabited in West Coast India
Investigating the demographic history of Sindhi population inhabited in West Coast India Open
Our new findings suggest that Indian Sindhi settlement from the Thane in Maharashtra in West coast of India derive their genetic ancestry not directly from Pakistani Sindhis but from other groups related to Burusho in Pakistan. The study t…
View article: An efficient protocol to derive primordial germ cell like cells <i>in vitro</i> from murine embryonic stem cells
An efficient protocol to derive primordial germ cell like cells <i>in vitro</i> from murine embryonic stem cells Open
Primordial germ cells (PGCs) are the precursors of germ cells, specified from a subset of epiblast stem cells at the post-implantation stage of mammalian embryonic development. Over the past decade, primordial germ cell-like cells (PGCLCs)…
View article: Unique demographic history and population substructure among the Coorgs of Southern India
Unique demographic history and population substructure among the Coorgs of Southern India Open
The fascinating genetic architecture of today's Indian population is the result of thousands of years of population mixing and eventual isolation. The Coorgs are one such small and religiously/socioculturally homogeneous community in Karna…
View article: Kennedy's disease from India: An Indian Cohort with multisystemic manifestations
Kennedy's disease from India: An Indian Cohort with multisystemic manifestations Open
Background Kennedy's disease (KD) is a rare, insidiously progressive lower motor neuron syndrome characterised by amyotrophy involving the appendicular or bulbar musculature of adult males in their fourth to fifth decade. There are no larg…
View article: Energy-Efficient Fault Data Prediction and Transmission in WSN IoT using Bio-Inspired Optimization and Deep Learning
Energy-Efficient Fault Data Prediction and Transmission in WSN IoT using Bio-Inspired Optimization and Deep Learning Open
Wireless sensor networks (WSNs) are crucial for several applications. WSN nodes frequently function with constrained battery capacity, rendering energy efficiency a critical issue for clustering and routing. Moreover, a principal challenge…
View article: Investigating the demographic history of Sindhi population inhabited in West coast India
Investigating the demographic history of Sindhi population inhabited in West coast India Open
Background South Asian populations are genetically well stratified due to multiple waves of migration, admixture events, and endogamy. India remains a rich resource for population genomics studies with many small and socioculturally homoge…
View article: Maternal genetic affinities of Koṅkaṇī population in the southwest coast of India
Maternal genetic affinities of Koṅkaṇī population in the southwest coast of India Open
Koṅkaṇ region on the west coast of India is a hotspot of culture, folklore and ethnolinguistic diversity. The genetic landscape of this region remains understudied. The present study features Koṅkaṇī population residing along the Koṅkaṇ Ma…
View article: Endogamy and high prevalence of deleterious mutations in India: evidence from strong founder events
Endogamy and high prevalence of deleterious mutations in India: evidence from strong founder events Open
Founder events influence recessive diseases in highly endogamous populations. Several Indian populations have experienced significant founder events and maintained strict endogamy. Genomic studies in Indian populations often lack in addres…
View article: Investigating linguistic and genetic shifts in East Indian tribal groups
Investigating linguistic and genetic shifts in East Indian tribal groups Open
South Asia is home to almost a quarter of the world's total population and is home to significant ethnolinguistic diversity. Previous studies of linguistic and genetic affiliations of Indian populations suggest that the formation of these …
View article: Genetic architecture and adaptation of Ladakh highlanders of trans-Himalayas
Genetic architecture and adaptation of Ladakh highlanders of trans-Himalayas Open
Trans-Himalayan Ladakh has witnessed complex cultural movements and demographic changes since the Neolithic period, which is still continue despite the harsh, inhospitable and cold climate. Although geographically isolated from mainland So…
View article: P684: Identification and functional characterization of novel and ultra-rare MC1R variants in Indian population
P684: Identification and functional characterization of novel and ultra-rare MC1R variants in Indian population Open
The melanocortin 1 receptor (MC1R) is one of the fundamental molecules to regulate the skin color and hair color in mammals. Upon binding with alpha MSH, MC1R activates a complex signaling cascade leading to the production of eumelanin, re…
View article: Cognitive and sleep evaluation of Myotonic dystrophy type I: A protocol for a case‐control study
Cognitive and sleep evaluation of Myotonic dystrophy type I: A protocol for a case‐control study Open
Background Myotonic dystrophy type 1 (DM1) is one of the most common inherited muscular dystrophies in adults. It is caused by CTG repeat expansions in the 3' untranslated region (UTR) of the DMPK gene on Chromosome 19. Apart from muscle, …
View article: Genetic Affinities and Adaptation of the South-West Coast Populations of India
Genetic Affinities and Adaptation of the South-West Coast Populations of India Open
Evolutionary event has not only altered the genetic structure of human populations but also associated with social and cultural transformation. South Asian populations were the result of migration and admixture of genetically and culturall…
View article: CCDC 2280443: Experimental Crystal Structure Determination
CCDC 2280443: Experimental Crystal Structure Determination Open
An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available …
View article: CCDC 2280444: Experimental Crystal Structure Determination
CCDC 2280444: Experimental Crystal Structure Determination Open
An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available …
View article: Characterization and identification of rice genotypes based on the microsatellite SSR marker for varietal purity assessment
Characterization and identification of rice genotypes based on the microsatellite SSR marker for varietal purity assessment Open
Microsatellite markers prove highly valuable for both assessing genetic purity and diversity. Moreover, efforts have been made to identify an alternative to the Grow-Out-Test, a traditional but laborious and time-consuming method used for …
View article: Novel MYBPC3 Mutations in Indian Population with Cardiomyopathies
Novel MYBPC3 Mutations in Indian Population with Cardiomyopathies Open
The present comprehensive study on MYBPC3 has revealed both single and compound mutations in MYBPC3 and their association with disease in Indian Population with Cardiomyopathies. Our findings may perhaps help in initiating diagnostic strat…
View article: Neuromuscular disease genetics in under-represented populations: increasing data diversity
Neuromuscular disease genetics in under-represented populations: increasing data diversity Open
Neuromuscular diseases (NMDs) affect ∼15 million people globally. In high income settings DNA-based diagnosis has transformed care pathways and led to gene-specific therapies. However, most affected families are in low-to-middle income cou…
View article: Deciphering the West Eurasian Genetic Footprints in Ancient South India
Deciphering the West Eurasian Genetic Footprints in Ancient South India Open
Since 2006, Pattanam coastal village of the Ernakulam District in Kerala, India, has witnessed multi-disciplinary archaeological investigations in collaboration with leading research institutions across the world. The results confirm that …
View article: Deciphering the West Eurasian Genetic Footprints in Ancient South India
Deciphering the West Eurasian Genetic Footprints in Ancient South India Open
Multi-disciplinary archaeological investigations have been conducted since 2006 at the Pattanam coastal village of Ernakulam District in Kerala. The archaeological investigations have confirmed that Pattanam is an integral part of the lege…
View article: Generation of a new human induced pluripotent stem cell (hiPSC) line from a South Asian Indian with a MYBPC3Δ variant
Generation of a new human induced pluripotent stem cell (hiPSC) line from a South Asian Indian with a MYBPC3Δ variant Open
Myosin binding protein C3 (MYBPC3) is a thick filament contractile protein that interacts with myosin, titin and actin and regulates cardiac muscle contraction. Genetic variations in the MYBPC3 gene are known causal factors for cardiomyopa…
View article: Genetic affinities and sub-structuring in Coorg population of Southern India
Genetic affinities and sub-structuring in Coorg population of Southern India Open
The Coorgs, also known as Kodavas, are one of the smallest religious and socio-culturally homogenous communities in the world, currently residing in the state of Karnataka, India. Due to a stark contrast with the surrounding subpopulations…