A clinical and genotype-phenotype analysis of MACF1 variants.

Microtubule-actin cross-linking factor 1 (MACF1) is a large protein of the spectraplakin family, which is essential for brain development. MACF1 interacts with microtubules through the growth arrest-specific 2 (Gas2)-related (GAR) domain. Heterozygous MACF1 missense variants affecting the zinc-binding residues in this domain result in a distinctive cortical and brain stem malformation.

Dual RNA-seq reveals the global transcriptome of Phytoplasma and Sesame ( L.) shoot apical meristem during phyllody development.

Unlabelled: Sesame ( L.), a significant oilseed crop, is highly valued for its rich oil content and the remarkable stability of its oil. Sesame production faces numerous harvest and post-harvest challenges including vulnerability to biotic infections.

Targeting Oxidative Stress With Combination Treatment of Alpha-Lipoic Acid and Antiseizure Drugs in Rodent Model: A Systematic Review.

Epilepsy is a chronic neurological disease marked by repeated seizures due to excessive neuronal activity, frequently linked to oxidative stress. Treatment in epilepsy involves chronic use of antiseizure drugs (ASDs) which further exacerbates oxidative stress. Given its role in epilepsy, oxidative stress has been a target for therapeutic intervention, with antioxidants being explored as potential agents to mitigate oxidative damage.

Signatures of omicron-like adaptation in early SARS-CoV-2 variants and chronic infection.

Persistent severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections are a source of new variants and can provide insight into evolutionary trajectories. Here, we observe upper airway-specific evolution of SARS-CoV-2, demonstrating a fusion peptide (FP) domain mutation (S:P812S) adjacent to the S2' cleavage site that emerged during a chronic infection. Indeed, this mutation had emerged previously and been transmitted in a delta variant lineage.

RICTOR regulates an interspecies crosstalk that influences longevity through a novel methionine cycle-mitophagy axis.

Adaptive modulation of physiological traits in response to environmental variability, particularly dietary fluctuations, is essential for organismal fitness. Such adaptability is governed by complex gene-diet interactions, yet the molecular circuits integrating microbe-derived metabolites with host metabolic and stress response pathways remain less explored. Here, we identify the conserved mechanistic target of rapamycin complex 2 (mTORC2) component, RICTOR, as a critical regulator of dietary plasticity in , specifically in response to bacterially derived vitamin B12 (B12).

Thermodynamics and Binding Mechanism of Insulin-like Growth Factor Binding Protein 1 (IGF2BP1) and Y3 RNA Interaction.

Y3 RNA is a conserved noncoding RNA involved in RNA-protein interactions, stress responses, and post-transcriptional regulation. It interacts with various RNA-binding proteins, including Insulin-like growth factor 2 mRNA-binding protein 1 (IGF2BP1), which regulates mRNA stability, localization, and translation. However, the molecular basis of Y3 RNA recognition by IGF2BP1 remains unclear.

Gut dysbiosis influences the pathophysiology of multiple sclerosis: A case-control study from North India.

Background And Objectives: Alterations in gut microbiota have been linked to pathophysiology of immune-mediated diseases like multiple sclerosis (MS). This study was undertaken to characterise the gut microbiome profile in North Indian MS patients and to evaluate gut health using biomarkers like zonulin (intestinal permeability) and calprotectin (intestinal inflammation).

Methods: 84 Patients with relapsing-remitting MS patients (RRMS) of 18-75 years of age with an expanded disability status scale (EDSS) score less than or equal to 5.

Genomic insights into bacteriophages: a new frontier in AMR detection and phage therapy.

The misuse and overprescription of antibiotics have accelerated the rise of antimicrobial resistance (AMR), rendering many antibiotics ineffective and leading to significant clinical challenges. The conventional treatment methods have become progressively challenging, posing a threat of evolving into an impending silent pandemic. The long track record of bacteriophages combating bacterial infections has renewed hope into the potential therapeutic benefits of bacteriophages.

Temporal TCR dynamics and epitope diversity mark recovery in severe COVID-19 patients.

Introduction: Severe COVID-19 is characterized by immune dysregulation, with T cells playing a central role in disease progression and recovery. However, the longitudinal dynamics of the T cell receptor (TCR) repertoire during the course of severe illness remain unclear.

Methods: To investigate temporal changes in adaptive immunity, we analyzed peripheral blood samples from the ICU-admitted severe COVID-19 patients (n = 36) collected at three time points: Day 1 (T1), Day 4 (T2), and Day 7 (T3).

Mutation Analysis for Hemoglobinopathies in Eastern Jharkhand.

Thalassemia is the commonest monogenic disorder worldwide and India is home to significant proportion of these patients. The prevalence of beta-thalassemia trait varies around the country ranging from 0.35 to 37.

A comprehensive analysis of the inherited lncRNA and circRNA repertoire of zebrafish.

Motivation: Inherited non-coding RNAs can be the third major component of epigenetic information transfer from one generation to the next. Here, we present a comprehensive resource of lncRNAs and circular RNAs that are inherited, compiled from meta-analysis of zebrafish transcriptomics data and comparative genomics with mouse and human. Maternal and paternal inheritance of mRNA into the zygote is accepted to be an important regulator of embryonic development as well as adult characteristics.

Understanding the prevalence of germline oncogenic biomarker variants across the Indian population.

Genomic biomarkers are essential aspects of personalized medicine. They offer an opportunity for early detection and appropriate intervention, thereby leading to improved patient outcomes and cost-effective treatment. However, different populations have varied genetic landscapes, and thus, may have unique biomarkers.

Suboptimal dengue genome leverages non-canonical translation mechanisms.

Dengue is a notable example of vector-borne RNA virus responsible for severe hemorrhagic fever. Its compact genome necessitates reliance on the host's translational machinery for replication. This study investigates the plausible adaptive strategies employed by dengue serotypes for effective translation within the human host.

Epigenetic Echoes: Decoding the Acetylation Journey from Neural Crest to Melanocyte.

Epigenetic mechanisms influence early developmental events, shaping gene expression in exciting ways that go beyond the DNA blueprint. The state of chromatin is governed by an interplay between various histone modifications, variants, nucleosome remodeling complexes, and other chromatin modifiers that work in sync to prime the chromatin for specific biological outcomes. In this chapter, we explore neural crest cells (NCCs), a critical progenitor population that retains the extensive developmental potential of their blastula origins.

Assessment of the wheat growth-promoting potential of strain NSC through genomic and physiological characterization.

Background: species have attracted significant interest for their biofertilizer and biocontrol capabilities, particularly in promoting the growth of crops such as , , and . However, their potential in supporting wheat cultivation remains largely unexplored.

Methods: A culture-dependent approach was employed to isolate a strain from the wheat rhizosphere.

Methionine cycle in C. elegans serotonergic neurons regulates diet-dependent behaviour and longevity through neuron-gut signaling.

The folate and methionine cycles (Met-C) are regulated by vitamin B12 (B12), obtained exclusively from diet and microbiota. Met-C supports amino acid, nucleotide, and lipid biosynthesis and provides one-carbon moieties for methylation reactions. While B12 deficiency and polymorphisms in Met-C genes are clinically attributed to neurological and metabolic disorders, less is known about their cell-non-autonomous regulation of systemic physiological processes.

Integrative Genetic and Transcriptomic Subtyping Improves Prognosis Prediction in B-Lineage Acute Lymphoblastic Leukemia.

Whole-transcriptomic sequencing (WTS) has remarkably advanced our understanding of B-lineage acute lymphoblastic leukemia (B-ALL), allowing for detailed gene expression profiling and discovery of novel therapeutically relevant subtypes. The aim of this study was to evaluate the diagnostic and prognostic relevance of combining WTS with traditional genetic methods in risk-stratifying B-ALL. In a cohort of 394 patients (301 children and 93 adults), conventional techniques such as fluorescence in situ hybridization, cytogenetics, and reverse-transcription PCR identified sentinel chromosomal abnormalities like BCR::ABL1, TCF3::PBX1, ETV6::RUNX1, and KMT2A-R (rearranged), and ploidy status.

Clinico-genomic study reveals association of dengue virus genome high frequency mutations with dengue disease severity.

Transmission of the dengue virus (DENV) places a huge burden on public health in several endemic regions. Like other RNA viruses, mutations in the DENV genome greatly governs its virulence, transmissibility, and interaction with the host immune system. Present study focuses on integrated analysis of mutation and clinical data accompanied at the onset of dengue fever.

Wag31, a membrane tether, is crucial for lipid homeostasis in mycobacteria.

The mycobacterial cytoskeletal protein Wag31 is necessary for maintaining cell shape and directing cellular growth and elongation. Wag31 has a characteristic N-terminal DivIVA-domain and a C-terminal coiled-coil domain. While the role of Wag31 in polar elongation is known, there is limited mechanistic insight on how it orchestrates growth and elongation.

Inter-host diversity associated with age, sex, and menstrual cycle modulates clinical manifestations in DENV-2 patients.

Dengue virus (DENV-2) remains a global threat, yet the influence of age, sex, and menstrual status on its epidemiology and genetic diversity is underexplored. We analyzed 2136 hospitalized DENV-2 patients (ages 0-86) using whole-genome sequencing (WGS) to examine how these host factors shape interhost viral diversity and clinical manifestations. Young adult males (19-35 years) had the highest prevalence with sex-based clinical differences where females exhibited severe hematological changes, while males showed increased hepatic injury.

Thermodynamic insights into N6-methyladenosine-modified ribonucleic acids and their interactions with the RNA recognition motif of heterogeneous nuclear ribonucleoprotein C.

N6-methyladenosine (m6A) is a prevalent RNA modification that regulates key functions such as splicing, transport, translation, and stability across various RNA types, including mRNA, tRNA, rRNA, and lncRNA. Transcriptome-wide studies reveal that approximately one-third of mammalian mRNAs carry 3-5 m6A modifications, enriched in the consensus motif RRA*CH. While some studies suggest m6A induces structural changes in RNA to facilitate protein binding through an "m6A switch" mechanism, others propose it primarily primes RNA for enhanced protein interactions, emphasizing the need for further exploration of m6A's role.

Pathogenic variants in PSENEN and NCSTN genes cause 'follicular' Dowling-Degos disease: Report of five unrelated Indian families.

Background Follicular Dowling-Degos disease (DDD) is a rare clinically and histologically distinct genodermatosis. However, its genetic basis has not been well-studied. Objective To describe the clinical, histological, and mutational spectrum of follicular DDD in 10 patients from five unrelated Indian families.

CRISPR/Cas9-engineering of Kell null erythrocytes to unveil host targeted irresistible antimalarial.

Malaria elimination faces challenges from drug resistance, stemming from mutations within the parasite's genetic makeup. Genetic adaptations in key erythrocyte proteins offer malaria protection in endemic regions. Emulating nature's approach, and implementing methodologies to render indispensable host proteins inactive, holds the potential to reshape antimalarial therapy.

promotes wheat growth by enhancing nutrient assimilation and rhizosphere microbiota modulation.

Background: has gained considerable attention for its biocontrol and biofertilizer potential in promoting plant growth. It could be employed to enhance wheat yield to ensure food security for the growing population. However, its biofertilizer potential in field conditions and its impact on wheat rhizosphere microbiota must be assessed before its employment in agriculture practices to increase wheat production.