Knockout Mice as an Experimental Model to Study the Biology of Inositol Pyrophosphates.

Knockout mice have served as excellent model systems to investigate the functions of specific mammalian proteins at the organismal level. Several studies on tissue-specific or whole-body depletion of individual IP6 kinase (IP6K) paralogs have shed light on myriad roles for their product, the inositol pyrophosphate 5-InsP, in different physiological processes and pathological states. The loss of Ip6k1, Ip6k2, or Ip6k3 leads predominantly to nonoverlapping phenotypes in mice, reflecting their differential tissue, cell type, and subcellular distribution.

Protocol for analyzing chromatin dynamics in macrophage-internalized Candida glabrata cells using micrococcal nuclease digestion.

Chromatin dynamics plays an important role in medical mycology. Here, we present a protocol to identify nucleosome occupancy and positioning in the fungal pathogen Candida glabrata (Nakaseomyces glabratus). This process involves micrococcal nuclease (MNase) digestion of the chromatin of C.

Programmed cell revival from imminent cell death enhances tissue repair and regeneration.

Cell recovery from near-death states is a critical yet poorly understood aspect of cell biology. Here, we describe a tightly-regulated programmed cell revival process after exposure of cells to cell death-inducing lysosomotropic agents, such as L-leucyl-L-leucine methyl ester (LLOMe). In the initial stage of cell recovery, we observe increased chromatin accessibility and upregulation of genes and pathways associated with embryonic development, regeneration, stemness, and inflammation.

Outlier maternal haplogroups N5 and X2 and their potential role in elevated tuberculosis prevalence among the Sahariya tribe.

India bears the largest burden of tuberculosis (TB) cases in the world. Prior studies have highlighted significantly higher pulmonary TB among the Sahariya tribal population in Central India. The disease susceptibility of a population to disease may be influenced by genetic ancestry.

A Decade of Prenatal Genetic Diagnostics: Insights From 1949 Cases at a Medical Genetics Facility in South India.

Objective: Our objective was to report on the performance of prenatal diagnostic procedures for genetic testing in a developing country.

Method: This retrospective study involved a review of medical records of women who underwent prenatal diagnostic procedures from 2014 to 2024 at a Medical Genetics facility in South India. Data on the type of procedure, indication for testing, types of tests, outcomes, and complications of procedures were recorded and analyzed using descriptive statistics.

Characterisation of β-thalassemia mutations in a tertiary care referral hospital in southern India- A descriptive study.

Purpose: Thalassemia is the most prevalent autosomal single-gene disorder. More than 250 mutations that impact β-globin gene expression levels through diverse mechanisms are known to cause β-thalassemia. Regional variations in β-thalassemia mutations are common.

Evaluating the 'ARID' landscape of SWI/SNF complexes with relevance to cancer.

ARID domain containing proteins function as essential structural and functional elements of the SWI/SNF (also known as BAF) chromatin remodelling complex. Dysregulation of the ARID proteins, occurring at both the transcriptional and translational levels, is linked to a range of diseases including developmental disorders and cancer. Recent studies have revealed several forms of ARID protein perturbations that occur through mutations, chromosomal alterations and epigenetic and post-translational modifications.

Mangiferin modulates lipid metabolism via AKR1B1 in response to advanced glycation end products.

Background And Purpose: Dysregulation of lipid metabolism is a hallmark of diabetic peripheral neuropathy (DPN). We hypothesised that AKR1B1, a gene upregulated under hyperglycaemic conditions in DPN, promotes lipid droplet formation in neuroblastoma cells.

Experimental Approach: We explored the role of AKR1B1 in lipid metabolism and its regulation by advanced glycation end products (AGEs) using transcriptomic analysis and human neuroblastoma (IMR-32) cell models.

A fine balancer: commemorating 40 years of the 's revival.

The , started by William Bateson in 1910, played a distinguished role in the early years of genetics. However, it stopped publishing in 1978. The Indian Academy of Sciences revived it in 1985, and has published it regularly since then.

Antifungal drug resistance in Candida glabrata: role of cellular signaling and gene regulatory networks.

Nakaseomyces glabratus (Candida glabrata) is an opportunistic human fungal pathogen of high priority that shares an ancestor with the non-pathogenic yeast Saccharomyces cerevisiae. Candida glabrata causes infections of the mucosal surfaces as well as fatal deep-seated tissue infections in immunocompromised individuals. The co-resistance to two commonly used antifungal drug classes, azoles and echinocandins, is increasingly being reported in clinical isolates of C.

Kennedy's disease from India: An Indian Cohort with multisystemic manifestations.

BackgroundKennedy'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 large series from the Indian subcontinent describing the clinical-genetic and laboratory spectrum of KD.AimTo describe the clinical, electrophysiologic, metabolic and genetic profile of patients with KD.

Core histones govern echinocandin susceptibility in .

Unlabelled: The dynamic chromatin structure regulates many biological processes including gene expression, DNA repair, and genome stability in eukaryotic cells. However, its role in governing antifungal drug susceptibility in medically important fungi is just beginning to be deciphered. Chromatin architecture is maintained by a complex interplay among histone protein stoichiometry sustainment, post-translational modifications of histone proteins, and the activity of chromatin remodeling complexes.

CEP72 Emerges as a Key Centriolar Satellite Protein in Health and Disease.

Centriolar satellites are membrane-less granules that are now accepted as core structural and functional components of the centrosomes and the cilia. While initially associated with centrosome assembly and primary cilia formation, these complexes and their dynamic structures seem to be involved in various other cellular processes, including protein homeostasis, autophagy, and responses to cellular stress. Since the identification of the first centriolar satellite protein, PCM1, substantial progress has been made in understanding the molecular composition and biological functions of centriolar satellites.

Countering the effector functions of ESAT-6 protein in Mycobacterium tuberculosis: strategies for developing antimycobacterial therapeutics.

Tuberculosis is an infectious disease primarily caused by the bacterium Mycobacterium tuberculosis. This bacterium infects about 10 million and kills about 1.6 million people annually.

A Novel Variant c.149G>A in CDK5 Gene Causing Lissencephaly Type 7.

Lissencephaly is a genetically heterogeneous condition caused by aberrant neuronal migration. Cerebellar hypoplasia has been commonly associated in some subtypes of lissencephaly, notably the tubulinopathies. CDK5 is a microtubule-associated protein, and its defective function has been implicated in various neurodevelopmental and neurodegenerative disorders.

Drosophila grainyhead gene and its neural stem cell specific enhancers show epigenetic synchrony in the cells of the central nervous system.

Enhancers are the epicentres of tissue-specific gene regulation. In this study, we have used the central nervous system (CNS) specific expression of the Drosophila grainyhead (grh) gene to make a case for deleting the enhancers in a sensitised background of other enhancer deletion, to functionally validate their role in tissue-specific gene regulation. We identified novel enhancers for grh and subsequently deleted two of them, to establish their collective importance in regulating grh expression in CNS.

Exploration of membrane-bound ecto-phosphatase to identify potential therapeutic target for leishmaniasis.

Leishmaniasis, caused by leishmanial parasites, is a major health concern worldwide that emphasizes on the exploration of novel therapeutic targets. Membrane-bound ecto-phosphatase of Leishmania donovani (LdMAcP) is essential for parasite virulence and absence of its ortholog in human makes it an attractive drug target. Hence, LdMAcP was cloned and purified to homogeneity that exhibited optimal catalytic efficiency at acidic pH.

Molecular signatures that translate across omics layers and crops under high aluminium and low phosphorus stress facilitate the identification of reliable molecular targets for genotyping in lentil.

Aluminium toxicity and phosphorus deficiency are co-existing characteristics of low pH stress that significantly affect the grain yield of crops. The increasing acidity of Indian soils potentially limits the cultivable area for lentil (Lens culinaris), the third most widely consumed pulse. Breeding for tolerance requires an understanding of interdependent biological responses, but the molecular characterization of integrated tolerance remains elusive.

Neurospora : lure and lore.

The mutant has a unique phenotype. It arrests sexual development when the fruiting bodies (perithecia) attain only 40% of their normal diameter, regardless of whether the mutant participates in a cross with the wild type ( x ) as the male or female parent. I first learnt about when this journal invited me to review '' by D.

A bioactivity matrix for antimicrobial activities of chitosans: A review.

Chitosans have prominent antimicrobial activities, inhibiting growth of both bacteria and fungi, but molecular structure-function relationships of these activities are still only partially understood. Structurally, chitosans differ in their degree of polymerization (DP), fraction of acetylation (F), and pattern of acetylation (PA). How these structural parameters are influencing antimicrobial activities is still a matter of debate.

Consumption of sucrose-water rewires macronutrient uptake and utilization mechanisms in a tissue specific manner.

Consumption of sugar-sweetened beverages (SSBs) have been linked to metabolic dysfunction, obesity, diabetes and enhanced risk of cardiovascular diseases across all age-groups globally. Decades of work that have provided insights into pathophysiological manifestations of sucrose overfeeding have employed paradigms that rarely mimic human consumption of SSBs. Thus, our understanding of multiorgan cross-talk and molecular and/or cellular mechanisms, which operate across scales and drive physiological derangement is still poor.

Reanalysis of Exome Sequencing Data in the Indian Undiagnosed Diseases Program: Improving Diagnostic Yield and Ending Diagnostic Odyssey.

In 2021, the Indian Undiagnosed Diseases Program was initiated for patients without a definite diagnosis despite extensive evaluation in four participating sites. Between February 2021 and March 2023, a total of 88 patients were recruited and underwent deep phenotyping. A uniform methodology for data re-analysis was implemented as the first step prior to conducting additional genomic testing.