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Background and Aims: Oesophageal malignancies tend to have poor prognosis and thus there is a need to identify newer therapeutic targets for their treatment. This study aimed at studying the incidence and histopathological spectrum of oesophageal malignancies with special emphasis on immunohistochemical expression of HER2/Neu in adenocarcinomas. Material and Methods: This study was a retrospective descriptive study conducted in a tertiary care centre in South India. Endoscopic biopsies and resection specimens of oesophageal malignancies were included in the study. Immunohistochemical analysis for HER2/Neu was performed on all oesophageal adenocarcinomas. Results: Squamous cell carcinoma constituted the most common malignancy in this study. Approximately 20% of oesophageal adenocarcinomas showed positivity for HER2/Neu. A prominent association of Barrett's metaplasia with oesophageal adenocarcinoma was noted. [ABSTRACT FROM AUTHOR]

Objective: Genetic polymorphisms of the angiogenesis, inflammatory cascade, or apoptosis genes can influence chronic complications in diabetic patients. Cytokine gene polymorphisms are considered vital in diabetes and diabetic nephropathy (DN) susceptibility. The present study evaluated the role of cytokine gene polymorphism in type 2 diabetes and diabetic nephropathy. Methods: A total number of 648 participants comprising 180 healthy individuals, 164 type 2 diabetes mellitus patients without any complications, 148 individuals with diabetic nephropathy, and 156 with non-diabetic nephropathy were included in this study. The IL-6 (-634 C/G), IL-18 (-607 A/C), IL-4 (-590C/T), and IL-10 (-592 C/A) polymorphism were analyzed using the PCR-RFLP method, and their expression analysis was done using real-time PCR Results: We found a significant difference in the genotype frequency of IL-6 and IL-10 in the diabetic nephropathy group compared to the control, whereas no significant difference was found in IL-18 and IL-4. Conclusion: The IL-6 -634C/G and IL-10-592 C/A polymorphisms were found to be associated with diabetic nephropathy in the West Indian population. The higher transcript level of inflammatory cytokines in patient groups compared to the control group may suggest the essential role of inflammation in the pathogenesis of diabetes and diabetic nephropathy. [ABSTRACT FROM AUTHOR]

Polycystic Ovarian Syndrome (PCOS) is a complex condition affecting 4% to 26% of the world-wide population and is characterized by enlarged ovaries and cysts. These cysts are actually immature ovarian follicles that have failed to mature and release an egg, which is a process known as anovulation. This study aims to explore the potential of miRNA as therapeutic and diagnostic biomarkers for PCOS, focusing on the identification and expression analysis of novel candidates like miR-34a-3p and its target Rapamycin-insensitive companion of mTOR (RICTOR). The objective is to enhance our understanding of the molecular mechanisms associated with PCOS, particularly the roles of miRNAs in its pathogenesis. In future, we plan to test miR-34a-3p mimics/inhibitors and RICTOR downregulation to improve insulin sensitivity and ovarian function. We will also explore combined therapies and conduct trials to assess their efficacy and safety in PCOS patients, aiming to develop practical treatments for PCOS. National Centre for Biotechnology Information (NCBI) database, TargetScan, and miRbase were explored to identify the novel miRNA candidates, resulting in the discovery of miR-34a-3p. Secondary structure was constructed using RNA Fold, and Ct and melt curve analysis assessed its statistical expression levels. Additionally, similar research was conducted to analyze the expression levels of RICTOR, a target of miR-34a-3p. The secondary structure showed miR-34a-3p has a minimum free energy of −47.20 kcal. Additionally shows dysregulation in both miR-34a-3p and RICTOR in individuals with PCOS. Furthermore, overexpression of RICTOR and decrease in miR-34a-3p levels suggest their possible role in the pathogenesis of PCOS. In PCOS, miR-34a-3p is downregulated, and there's an inverse relationship between miR-34a-3p and RICTOR levels. qRT-PCR results showed high RICTOR expression in PCOS patients. RICTOR plays a crucial role in the mTOR pathway, affecting insulin signaling, metabolism, and cellular growth, which are all implicated in PCOS. [ABSTRACT FROM AUTHOR]

Background. Chronic kidney disease (CKD) is defined by gradual deterioration of renal parenchyma and decline of functioning nephrons. The risk of cardiovascular events is drastically increased in patients with CKD. This complicated link of CKD and cardiovascular disease (CVD) is not well understood till date. Objective. We aim to study the influence of genetic variants of matrix Gla protein (MGP) gene rs1800801, rs1800802, and rs4236 and nitric oxide synthase‐3 (NOS3) gene rs1799983 and rs2070744 on the risk of CKD and its associated cardiovascular comorbidity in South Indian Tamils. Methods. One hundred and eighty‐five CKD patients and 185 controls were recruited in this research. Flow‐mediated dilatation (FMD) of brachial artery was measured ultrasonically. Circulating levels of MGP and nitric oxide (NO) were measured by ELISA. Genotyping was done by real‐time PCR. Results. We observed a significant difference in the distribution of TT and CT genotypes of NOS3 (rs2070744), indicating an increase in the risk of CKD. NO level was significantly decreased in CKD cases than controls. We also found a significant difference in the distribution of TTA and CCG haplotypes of MGP polymorphisms (1‐rs4236; 2‐rs1800801; 3‐rs1800802) between the groups, indicating an increase in the risk of CKD. CT genotype of MGP (rs4236) and CT genotype of NOS3 (rs2070744) variants were found to be associated with decreased FMD, indicating endothelial dysfunction, the harbinger of CVD. Conclusion. We conclude that genetic variants of MGP and NOS3 enhance the risk of CKD and its associated cardiovascular comorbidity in South Indian Tamils. [ABSTRACT FROM AUTHOR]

Human epididymis protein 4 (HE4) is a secretory protein encoded by the WFDC2 gene. The potential use of HE4 as a tumor marker has been supported by an increasing number of studies demonstrating an upregulation of HE4 in a range of malignant neoplasm. The aim of the study was to examine the association between the serum levels of HE4 and the clinico-pathological variables and to assess the potential use of circulatory HE4 for the diagnosis of breast cancer. An observational case-control study was carried out in P.G. Department of General Surgery, MLN Medical College, Prayagraj. Forty patients with breast cancer were taken as cases, and thirty healthy individuals were taken as controls. HE4 and CA125 were measured using ELISA test. There was a statistically significant strong positive correlation between CA125 and serum HE4 (rho = 0.7, p < 0.001) with sensitivity for predicting case of 93.33% and a specificity of 80.00% with AUROC of 0.8483. Serum HE4 does not change with progression of stages of malignancy. Serum HE4 had good diagnostic performance, and it can be used as a diagnostic marker of breast malignancy. [ABSTRACT FROM AUTHOR]

Purpose: The mechanisms that control inflammation in scrub typhus are not fully elucidated. The Notch pathways are important regulators of inflammation and infection, but have not been investigated in scrub typhus. Methods: Plasma levels of the canonical Notch ligand Delta-like protein 1 (DLL1) were measured by enzyme immunoassay and RNA expression of the Notch receptors (NOTCH1, NOTCH2 and NOTCH4) in whole blood was analyzed by real-time PCR in patients with scrub typhus (n = 129), in patients with similar febrile illness without O. tsutsugamushi infection (n = 31) and in healthy controls (n = 31); all from the same area of South India. Results: Our main results were: (i) plasma DLL1 was markedly increased in scrub typhus patients at hospital admission with a significant decrease during recovery. (ii) RNA expression of NOTCH4 was decreased at admission in whole blood. (iii) A similar pattern for DLL1 and NOTCH4 was seen in febrile disease controls. (iv) Admission DLL1 in plasma was associated with disease severity and short-term survival. (vi) Regulation of Notch pathways in O. tsutsugamushi-infected monocytes as evaluated by public repository data revealed enhanced canonical Notch activation with upregulation of DLL1 and downregulation of NOTCH4. Conclusion: Our findings suggest that scrub typhus patients are characterized by enhanced canonical Notch activation. Elevated plasma levels of DLL1 were associated with organ dysfunction and poor outcomes in these patients. [ABSTRACT FROM AUTHOR]

Introduction: Colorectal Cancer (CRC) is a significant health problem worldwide, with more than 70,000 new cancer cases recorded in India in 2020. A better understanding of CRC prognosis is needed. The substantial intratumoural heterogeneity among tumours of different stages has entailed the research for new biomarkers to more clearly identify tumour biology and behaviour. Micro Ribonucleic Acids (miRNAs) are non coding RNAs comprised of approximately 20-25 nucleotides and play an important role in epigenetic regulations. Studies have demonstrated that miRNAs play a critical role in tumourigenesis, metastasis, and tumour response to treatment. Comprehensive knowledge of miRNAs as potential markers of colon cancer diagnosis, prognosis, and predictive factors is crucial. Aim: To assess the miRNA signature (miR21, miR31, and miR34a) in colon cancer tumour samples and to evaluate the association of the miRNA signature with the clinicopathological profile and Pathological Tumour/Node/Metastasis (pTNM) stage of CRC patients. Materials and Methods: This cross-sectional and prospective study was conducted at the Departments of Pathology, Molecular Research and Diagnostics and Surgical Oncology of Sri Shankara Cancer Hospital, Bengaluru, Karnataka, India and was comprised of a total of 69 CRC patients who underwent surgery with a curative intent. The study was conducted over an 18-month period from January 2020 to June 2021. miRNA was extracted from Formalin-fixed Paraffin-embedded (FFPE) samples, and quantitative Polymerase Chain Reaction (qPCR) was done to get corresponding ΔCT (Threshold Cycles) values. The expression of miR21, miR31, and miR34a was evaluated, and their association with different clinicopathological parameters like age, sex, tumour stage, grade, Carcinoembryonic Antigen (CEA) levels, Perineural Invasion (PNI), and Lymphovascular Invasion (LVI) status was studied. The expression of the mentioned miRNAs was assigned low and high values on the basis of median values. Spearman's correlation was done to check for any significant associations. Results: All three miRNAs (miR21, miR31, miR34a) were found to have lower values in the >60 years age group compared to the <60 years age group. Higher values of miRNA were found in male patients than in females, with a p-value of 0.022 for miR21. However, miRNA expression (miR21, miR31, miR34a) did not show any statistically significant correlation with tumour location (p-values 0.543, 0.255, 0.255), lymph node status (p-values 0.676, 0.153, 0.930), TNM stage (p-values 0.273, 0.509, 0.898), LVI (p-values 0.233, 0.233, 0.733), PNI (p-values 0.686, 0.263, 0.756), and serum CEA level (p-values 0.543, 0.255, 0.255). Conclusion: The present study showed the possible tumoursuppressive role of miR34a in CRC. Although miR21 acts as an oncogenic miRNA in many cancers, in CRC, its expression differs between males and females, with most tumours in males exhibiting high expression. [ABSTRACT FROM AUTHOR]

Background: Eighty-five percent of infants with congenital nephrotic syndrome (CNS) and 66% with infantile NS (INS) are likely to have a monogenic etiology. There exists a significant genetic variability between different regions and ethnic groups. This study aimed to determine the genetic defects in children with CNS and INS by establishing a registry in western India. Methods: In this cross-sectional study, pediatric nephrologists from 13 private and government institutions shared relevant clinical data and details of the genetic evaluation of children presenting with NS within the first year of life. Results: The median age at presentation was 9 months (range 1–23, IQR 3–13 months), history of consanguinity between parents existed in 14 patients (34%), family history of similar illness in 6 (15%), and extra-renal manifestations in 17 (41%). Twenty-five (61%) were confirmed to have a monogenic etiology. NPHS1 gene was the most implicated (9/25) followed by PLCE1 (5/25). There were 12 variants of uncertain significance (VUS) involving 10 genes (10/25, 40%), and no definite genetic abnormality was found in 4 (25%). A re-analysis of these VUS attempted 2–3 years later facilitated reclassification of 7/12 (58%); increasing the diagnostic yield from 61 to 68.2%. Conclusions: Consistent with worldwide data, variants in NPHS1 gene were the most common cause of NS in infancy; however, PLCE1 was implicated more frequently in our cohort. NUP93 and COL4A3 were reported in early onset NS for the first time. Reclassification of VUS should be attempted, if feasible, since it may lead to a useful revision of diagnosis. [ABSTRACT FROM AUTHOR]

Animal geneticists and breeders have the impending challenge of enhancing the resilience of Indian livestock to heat stress through better selection strategies. Climate change's impact on livestock is more intense in tropical countries like India where dairy cattle crossbreeds are more sensitive to heat stress. The main reason for this study was to find the missing relative changes in transcript levels in thermo-neutral and heat stress conditions in crossbred cattle through whole-transcriptome analysis of RNA-Seq data. Differentially expressed genes (DEGs) identified based on the minimum log twofold change value and false discovery rate 0.05 revealed 468 up-regulated genes and 2273 down-regulated significant genes. Functional annotation and pathway analysis of these significant DEGs were compared based on Gene Ontology (Biological process), Kyoto Encyclopedia of Genes and Genome (KEGG), and Reactome pathways using g: Profiler, ShinyGO v0.76, and iDEP.951 web tools. On finding network visualization, the most over-represented and correlated pathways were neuronal and sensory organ development, calcium signalling pathway, Mitogen-activated protein kinase (MAPK) and Smad signalling pathway, Ras-proximate-1, or Ras-related protein 1 (Rap 1) signalling pathway, apoptosis, and oxidative stress. Similarly, down-regulated genes were most expressed in mRNA processing, immune system, B-cell receptor signalling pathway, Nucleotide oligomerization domain (NOD)-like receptors (NLRs) signalling pathway and nonsense-mediated decay (NMD) pathway. The heat stress-responsive genes identified in this study will facilitate our understanding of the molecular basis for climate resilience and heat tolerance in Indian dairy crossbreeds. [ABSTRACT FROM AUTHOR]

The study was conducted to evaluate eight germplasms/varieties of wheat during the rabi season (November-April, 2022--23) using a randomized block design with three replications at the research farm of Agricultural Research Sub-Station (ARSS), Nagaur (Rajasthan), India to estimate the variability parameters and characters association for nine characters. The results were revealed that mean sum of squares due to genotypes showed significant differences for all the nine characters under study, suggested that the genotypes were genetically divergent. The phenotypic coefficient of variation values was higher than genotypic coefficient of variation values for all the nine traits which reflect the influence of environment on the expression of traits. Spike length and number of spikelets were showed higher PCV and medium GCV. High heritability estimates were recorded for all the nine characters. High genetic advance as percentage of mean along with high heritability was observed for number of spikelets, spike length, number of effective tillers plant-1, seed yield and number of grains spike-1. This indicated the existence of lesser environmental influence and prevalence of additive gene action in their expression and these traits possessed high selective value. These characters could be further improved through individual plant selection. Grain yield had highly significant and positive genotypic and phenotypic correlations with plant height, number of effective tillers plant-1, spike length, number of spikelets and number of grains spike-1. These characters can be considered as criteria for selection for higher grain yield as these were mutually and directly associated with grain yield. [ABSTRACT FROM AUTHOR]

Papaya ringspot virus (PRSV) is one of the most devastating viruses of papaya that has significantly hampered papaya production across the globe. Although PRSV resistance is known in some of its wild relatives, such as Vasconcellea cauliflora and in some of the improved papaya genotypes, the molecular basis of this resistance mechanism has not been studied and understood. Plant microRNAs are an important class of small RNAs that regulate the gene expression in several plant species against the invading plant pathogens. These miRNAs are known to manifest the expression of genes involved in resistance against plant pathogens, through modulation of the plant's biochemistry and physiology. In this study we made an attempt to study the overall expression pattern of small RNAs and more specifically the miRNAs in different papaya genotypes from India, that exhibit varying levels of tolerance or resistance to PRSV. Our study found that the expression of some of the miRNAs was differentially regulated in these papaya genotypes and they had entirely different miRNA expression profile in healthy and PRSV infected symptomatic plants. This data may help in improvement of papaya cultivars for resistance against PRSV through new breeding initiatives or biotechnological approaches such as genome editing. [ABSTRACT FROM AUTHOR]

Grain-related traits are pivotal in rice cultivation, influencing yield and consumer preference. The complex inheritance of these traits, involving multiple alleles contributing to their expression, poses challenges in breeding. To address these challenges, a multi-locus genome-wide association study (ML-GWAS) utilizing 35,286 high-quality single-nucleotide polymorphisms (SNPs) was conducted. Our study utilized an association panel comprising 483 rice genotypes sourced from a northeast core set and a landraces set collected from various regions in India. Forty quantitative trait nucleotides (QTNs) were identified, associated with four grain-related traits: grain length (GL), grain width (GW), grain aroma (Aro), and length–width ratio (LWR). Notably, 16 QTNs were simultaneously identified using two ML-GWAS methods, distributed across multiple chromosomes. Nearly 258 genes were found near the 16 significant QTNs. Gene annotation study revealed that sixty of these genes exhibited elevated expression levels in specific tissues and were implicated in pathways influencing grain quality. Gene ontology (GO), trait ontology (TO), and enrichment analysis pinpointed 60 candidate genes (CGs) enriched in relevant GO terms. Among them, LOC_Os05g06470, LOC_Os06g06080, LOC_Os08g43470, and LOC_Os03g53110 were confirmed as key contributors to GL, GW, Aro, and LWR. Insights from QTNs and CGs illuminate rice trait regulation and genetic connections, offering potential targets for future studies. [ABSTRACT FROM AUTHOR]

• We report a recurrent intronic homozygous c.1023+5G> A desmin mutation in indian patients. • Second report of recessive desminopathy associated with mixed limb girdle CMS – myofibrillar myopathy. • Partial loss of desmin leading to NMJ dysfunction and CMS phenotype. • Leaky splice site with intron retention leads to partial desmin loss. Recessive desminopathies are rare and often present as severe early-onset myopathy. Here we report a milder phenotype in three unrelated patients from southern India (2 M, 1F) aged 16, 21, and 22 years, who presented with childhood-onset, gradually progressive, fatigable limb-girdle weakness, ptosis, speech and swallowing difficulties, without cardiac involvement. Serum creatine kinase was elevated, and repetitive nerve stimulation showed decrement in all. Clinical improvement was noted with pyridostigmine and salbutamol in two patients. All three patients had a homozygous substitution in intron 5: DES(NM_001927.4):c.1023+5G> A , predicted to cause a donor splice site defect. Muscle biopsy with ultrastructural analysis suggested myopathy with myofibrillar disarray, and immunohistochemistry showed partial loss of desmin with some residual staining, while western blot analysis showed reduced desmin. RT-PCR of patient muscle RNA revealed two transcripts: a reduced normal desmin transcript and a larger abnormal transcript suggesting leaky splicing at the intron 5 donor site. Sequencing of the PCR products confirmed the inclusion of intron 5 in the longer transcript, predicted to cause a premature stop codon. Thus, we provide evidence for a leaky splice site causing partial loss of desmin associated with a unique phenotypic presentation of a milder form of desmin-related recessive myopathy overlapping with congenital myasthenic syndrome. [ABSTRACT FROM AUTHOR]

Introduction: The patterns of microRNA (miRNA) expression have opened up new avenues in the search for prognostic biomarkers and potential therapeutic targets for various tumours. In oral carcinogenesis research, analysing microRNAs expressed in Oral Squamous Cell Carcinoma (OSCC) unveils a complex network of interest. miR-21 is known to be overexpressed in numerous solid tumours and is linked to the progression of malignancies in hepatocellular carcinomas, breast cancer, and colon carcinomas. Aim: To determine the impact of surgical excision on serum miR-21 expression levels in OSCC cases and to establish correlations with clinicopathological parameters. Materials and Methods: The study was an exploratory prospective observational study conducted with proper institutional ethical approval at the Cancer Research Institute (CRI), Himalayan Institute of Medical Sciences (HIMS), Jolly Grant, Dehradun, Uttarakhand, India. Fifty-six histologically confirmed OSCC cases were enrolled along with 25 healthy subjects as controls from May 2021 to June 2023. The relative fold expression change was calculated using the Livak method (2-ΔΔct). Data analysis was performed using software such as Statistical Package for Social Sciences (SPSS) version 20.0 and MS Excel. Non parametric statistical tests such as Wilcoxon signed-rank test, Mann-Whitney test, and Kruskal-Wallis test were utilised. Results: Out of 56 sample included, 28 exhibited high expression of miR-21 (p-value<0.001), while 27 cases showed downregulation postsurgery (p-value<0.001), with one sample showing the same level of expression. In cases where the time difference between pre and postsurgery samples was over 25 days, no significant change was observed (p-value=0.06), and similarly, in cases with a time difference below 25 days, no significant difference was noted (p-value=0.14). A significant negative correlation was found between presurgery serum Albumin to Globulin ratio (A:G ratio) and miR-21 expression (p-value <0.05), while no other parameters showed a significant correlation with miR-21. Conclusion: miR-21 expression decreased significantly in some OSCC cases; however, in the majority of cases, it increased postsurgery. A significant correlation was observed between miR-21 expression and the serum A:G ratio. [ABSTRACT FROM AUTHOR]

The biological behavior and prognosis of breast cancer is often unpredictable with a number of factors contributing to the outcome. Nottingham's Prognostic Factor (NPI) takes into account the tumor size, nodal status, and histological grade of tumor. The receptor status considers the hormone receptor and HER2 status. The aim of the study was to correlate the NPI score with the receptor status expression in Indian women with breast cancer. A total of 78 breast cancer patients who underwent upfront modified radical mastectomy were recruited. NPI score and receptor status assessment was done at histopathological examination of the specimen. Hormone receptor negative breast cancer tended to have a higher NPI score compared to hormone receptor positive patients. However, this difference did not achieve statistical significance. NPI score parameters except for the histological grade are a reflection of the duration or time span of the tumor. On the contrary, the receptor status is indicative of the tumor biology and not of its time duration. A scoring system which incorporates the three parameters of the NPI as well as the receptor status would be the best prognostic index as well as predictive regarding the choice of adjuvant therapy. [ABSTRACT FROM AUTHOR]

Background and aims: India is one of the countries being projected as the salinization hotspots in the near future. To identify novel donors imparting salt tolerance, barley mini-core collection comprising 107 Hordeum vulgare germplasm and 3 wild accessions from the Indian National Genebank were evaluated under salt stress. Methods: Barley accessions were screened under salt stress (200 mM NaCl) at early growth and the adult plant stage based on morpho-physiological traits including salt uptake parameters. Further, the possible role of candidate gene Hordeum vulgare root abundant factor (HvRAF) was studied by deciphering allelic variation and expression analysis in selected salt tolerant and susceptible accessions. Results: Analysis of variance revealed a significant effect of salinity on all traits and elucidated profound genotypic variation. Salinity caused a drastic reduction in growth and severely affected ion homeostasis resulting in decline in grain yield by 65.35% compared to control. Accessions EC0578359, EC0578251, IC0547723, EC0123148, EC0299361, EC0177250 and IC0247671 were identified as the most promising salt-tolerant genotypes. Further investigation of allelic variation in HvRAF revealed a total of 26 SNPs, of which 10 were non-synonymous, 8 were synonymous and 5 were conserved. Haplotype variant analysis indicated two major haplotypic groups (Hap 1 and Hap 2) for HvRAF, of which the Hap 2 was found to be more prevalent than Hap 1. Conclusions: Salt-tolerant phenotype exhibited the physiological basis of tolerance and upregulated expression of HvRAF, although none of the identified Hap groups could be associated with salt tolerance suggesting the governance of trait by multiple loci. [ABSTRACT FROM AUTHOR]

Background: Polycystic ovarian syndrome (PCOS) is a prevailing endocrinopathy affecting a significant population of women of reproductive age across the globe. A myriad set of complex intertwined factors ranging from etiological, genetic, and epigenetic reasons cause this disorder. Out of the different factors, vitamin D shows an imperative aspect in health and fertility of women with polycystic ovary syndrome (PCOS). The importance of vitamin D is facilitated by vitamin D receptor (VDR), a ligand-dependent transcription factor in the steroid/ thyroid hormone receptor superfamily that controls the pleiotropic biological properties of vitamin D. Purpose: The purpose of this study was to evaluate the role of promoter methylation of the VDR gene, a transcription factor with numerous biological utilities, with its relative expression and clinico-pathological findings and outcomes. Methodology: A total of 200 blood samples were collected, 100 from PCOS case subjects, and 100 from the normal healthy controls respectively, which were assessed by qRT-PCR for determining the expression summary. MS-PCR technique was used for analyzing the promoter methylation status of the VDR gene. Blood samples were withdrawn, respectively, for each case and the control study separately experimented for different stages for the given study, of which estimation of vitamin D was also a part. Results: In this test-versus-control study, first, the promoter methylation status of VDR gene was identified which was found more prominent i.e., hyper-methylation of the VDR gene was identified in 84 cases (84%), and in the normal healthy controls, it was found (62%). The promoter methylation status of the VDR gene has remarkably shown the results with a significant difference (p value < 0.0001*). Second, the expression analysis of VDR gene was found to be strongly downregulated in majority (64%) of PCOS case samples analyzed by means fold change of 0.8743 (± 0.06466) (p value 0.0054**). This result is, therefore, indicative of VDR gene role in PCOS pathogenesis as the said gene is downregulated. Moreover, compared to the vitamin D parameter, hyper-methylation and expression analysis of the VDR promoter gene were found to correspond to some associations with PCOS. Certain case-and-control study analyses showed that patients with normal vitamin D levels showed less indicative effects of PCOS and vice versa. Conclusion: Our study, being exclusive from Kashmir, one of the foremost specified that VDR confirms anomalous methylation configuration in PCOS with subsequent downregulation in the gene expression i.e., there is an inverse correlation among VDR gene expression (downregulated) and methylation status (hyper-methylated) from the conclusion of our PCOS case-versus-control study. [ABSTRACT FROM AUTHOR]

• Two contrasting banana genotypes were evaluated for their response towards water deficit stress. • A 3.2 fold increase was observed in the expression of expansin gene (MaEXP) in the drought tolerant cultivar under drought stress as against to the susceptible one. • On the contrary imposing water deficit stress down regulated the aquaporin gene (MaAQP) in the drought tolerant cultivar which showed an upregulation in the non-stressed condition. Farmers in outlying locations who are short on resources often rely on banana production, but this fruit crop is in danger due to drought. Given the difficulties of banana breeding, a molecular understanding of banana's drought tolerance will be invaluable in identifying markers for use in marker-assisted selection and genes for transgenic improvement of drought tolerance. The purpose of this study was to identify the genes and expression markers in banana that confer resistance to drought. Under the greenhouse, both dessert and cooking bananas were grown under ideal and water-restricted conditions and looked at how drought affected the biochemistry, structure, and function of these plants. The cooking cultivar is drought tolerant because it may reduce water loss by partially closing its stomata, as shown by morphological and physiological studies. The stomatal conductance, relative water content, plant height and number of leaves were significantly reduced in both the genotypes under water deficit stress. It was also discovered that MaADH, MaDEH19, MaNAC, MaSPS , and MaWRKY had higher expression levels in samples under water deficit stress when compared to the well watered samples. The expression of genes MaAQP, MaStpkNAK and MaRAV were found to be down regulated under water deficit stress in the drought tolerant cultivar Monthan. However, the expression of MaEXP and MaStpkNAK was non significant in the drought susceptible cultivar Amritsagar under water deficit stress. Present study finds out that MaEXP was exclusively upregulated in the drought tolerant cultivar Monthan under water deficit stress. However, its expression was non-significant in the susceptible cultivar under same condition. It is also revealed that under non stress conditions, MaAQP was upregulated in the drought tolerant cultivar as against to that of susceptible one, however, imposing water deficit stress will downregulate the gene in the tolerant cultivar. The current work proposes that cellular tolerance is founded on differences in the transcript levels of certain genes involved in processes like water transport and osmotic adjustment. [ABSTRACT FROM AUTHOR]

BACKGROUND AND OBJECTIVES: Discrepancy between forward and reverse ABO grouping could be due to several reasons including genetic mutations of the alleles encoding group specific transferase. The healthy donors found with weak A antigen were investigated to ascertain the allele responsible for variation. MATERIALS AND METHODS: Standard serological methods were employed using commercial antisera. The molecular sequencing was performed on DNA with enrichment library prep kit and a custom designed overlapping probe panel. Binary alignment mapping files, generated on board the Illumina MiSeq instrument and aligned to the GRCh37/Hg19 reference genome, were uploaded to the QIAGEN CLC genomics workbench software (version. 20) where variant call files were generated and analyzed. RESULTS: Red blood cells (RBCs) of six healthy donors, showing weak mix-field agglutination by anti-A and anti-A, B and plasma with absence or weakly reacting anti-A, were investigated serologically. The RBCs incubated with anti-A yield positive elution and their saliva lacked A but possessed H antigen thereby classifying as a historical known phenotype Aend. Family study on 4 probands showed inheritance of the trait. Molecular studies revealed presence of ABO*A allele carrying rare novel variant referred to as c.106delinsGG in line with HGVS recommendation that was thought to be responsible for the variant of A. CONCLUSION: Six cases serologically defined as A were found to be associated with novel weak allele ABO*A (c.106delinsGG). The Aweak phenotype with the novel allele has not been displayed on International Society of Blood Transfusion database, though c.106delinsGG is listed in the UCSC genome browser under rs782544248. [ABSTRACT FROM AUTHOR]

Introduction: Altered expression of blood group antigens has been reported to be associated with both solid as well as haematological malignancies. This usually results from genetic mutation leading to incomplete as well as abnormal synthesis of antigens. Transitional loss of RBC antigens especially from ABO system is most commonly found in haematological malignancies causing blood group discrepancies and followed by reversal to its historical blood group during remission. Loss of A, B antigens has also been associated to play a role in lung, bladder and colon cancers. However not much data is available regarding haematological malignancies. Methods and Methodology: Retrospective review of blood group discrepancy (Forward group) in patients admitted for haematolymphoid malignancy at our institute was done during a period of 3.5 years (13/3/2020 till 12/9/2023). Blood grouping done by Column agglutination test were repeated by conventional tube method. Further confirmation of the group was done by saliva test and adsorption elution test as indicated. The detail history of the patient was collected from the hospital records and analysed. Results: A total of 7 patients presented with either loss or decrease in antigen expression. Most common diagnosis was Acute Myeloid Leukaemia (AML) with FLT3 mutation and most common antigen affected was A. Conclusion: Haematolymphoid malignancies has been associated with loss of blood group antigens causing group discrepancy. Blood transfusion is an integral part of the supportive care in these patients. Hence, proper work up of blood group discrepancy cases should be done and recorded so as to prevent delay in blood transfusion. [ABSTRACT FROM AUTHOR]

Environmental and genetic factors are associated with development of Pseudoexfoliation syndrome (XFS). Here we intended to elucidate the association of candidate genes in relevance to UV exposure in these patients. This is a case-control study of 309 subjects (N = 219 controls and 90 XFS cases) from India. PCR based direct sequencing was performed for candidate genes (LOXL1, POMP and TMEM136) followed by genotype and haplotype analysis. The promoter methylation status was assessed by Methylation specific PCR based direct sequencing of genomic DNA for all samples. The methylation status was compared with that of primary fibroblasts cultures established from patient's Tenon's tissue samples in subset of these patients. SNPs rs3825942, rs41435250, rs8818 (LOXL1) and rs3737528 (POMP) showed significant association with XFS. LOXL1 gene haplotype GAGC (rs1048661- rs3825942- rs41435250–rs8818) was associated with lower risk for XFS with a p value 4.1961 × 10−6 (OR =0; 95%CI, 0.000–0.003). POMP gene haplotypes for intronic SNPs (rs1340815- rs3737528- rs913797) TCC and TTC were associated with increased risk for the disease (OR > 1.0). Significant correlation for SNPs rs3825942 of LOXL1 (ρ= −0.132) and rs3737528 of POMP (ρ = 0.12) was observed with measure of lifetime UV exposure (CUVAF value). Reduced LOXL1 gene expression was observed in cultured tenon fibroblasts from the patients that correlated with differential methylation of the Sp-1 binding sites at -253, -243bp upstream to the transcription start site of LOXL1 promoter region. Our results suggest a possible interaction for LOXL1 gene haplotype (GAGC) with the measure of ocular UV exposure in pseudoexfoliation syndrome. [ABSTRACT FROM AUTHOR]

The emergence of microorganisms with resistance toward antibiotics has been widely recognized as a growing hazard to public health. Here, we report the whole genome sequence of Klebsiella pneumoniae strain THK, which was isolated from an aquaculture farm in Kerala, India. Standard disc diffusion and strip methods were used for antibiotic susceptibility testing and minimum inhibitory concentration detection. The isolate showed high level of resistance against beta-lactam, aminoglycosides, fluoroquinolones, macrolides, tetracyclines, chloramphenicol, sulfonamides, and cephalosporin class of antibiotics, but were sensitive to carbapenem and polymyxins. The whole genome sequence analysis revealed that the final assembly of THK strain consisted of 30 contigs of 5, 199,186 bp including four plasmid sequences plasmid_690 (1 contig), plasmid_710 (9 contigs), plasmid_1222 (6 contigs), and plasmid_1528 (1 contig). Sequence analysis revealed that the isolate has a number of genes encoding for antibiotic resistance and virulence. The findings indicated that antibiotics present in aquatic environments at sub-inhibitory concentrations increase the selection pressure affecting the cell function of even normal aquatic microorganisms to change the genetic expression of virulence factors or acquire resistance genes through various transfer mechanisms. This strain would be of significant interest for thorough comparative genomic study, given the known vast diversity of pathogenic and antibiotic resistance potentials. [ABSTRACT FROM AUTHOR]

The physicochemical characteristics and digestibility properties of rice are greatly influenced by its genetic variability. In this study, we attempt to understand the overall quality of five traditional and popularly consumed rice varieties of Kerala. The major traits affecting the eating and cooking quality of rice such as amylose content (AC), gel consistency (GC) and gelatinization temperature (GT) were determined and correlated with the expression of the starch-synthesis-related genes (SSRGs). The Wx is a major SSRG, which modulates the amylose content and the eating as well as cooking qualities of rice. The rice varieties including, Jaya, Matta and Rakthashali were found to have intermediate amylose content (Wxa allele) while Kuruva and Pokkali were found to have high Amylose Content (Wxa allele). The glycemic index (GI) of all varieties was found to be in the range of 51.0–58.6. Among the screened rice varieties, Pokkali was found to have the lowest glycemic index and digestibility with appreciable eating and cooking qualities. Pokkali rice, with its low GI (51.0), could be a recommended variety for diabetes management. Furthermore, the rice eating and cooking qualities, and plant breeding techniques coordinated by the expression of the starch synthesis-related gene (Wx), could be a novel approach to improve the valuable germplasm. [ABSTRACT FROM AUTHOR]

[Display omitted] • The present study achieves a large-scale SNP dataset, a total of 512 genomes comprising 487 B. dorsalis and 25 B. carambolae. • B. dorsalis originates from the Southern India with three invasion routes worldwide, mainly facilitated by human activities. • CYP6a9 is identified that enhance the thermal adaptation of B. dorsalis and thus boost its invasion to temperate regions. • The gene function is further verified using the RNAi technology. The oriental fruit fly Bactrocera dorsalis is one of the most destructive agricultural pests worldwide, with highly debated species delimitation, origin, and global spread routes. Our study intended to (i) resolve the taxonomic uncertainties between B. dorsalis and B. carambolae , (ii) reveal the population structure and global invasion routes of B. dorsalis across Asia, Africa, and Oceania, and (iii) identify genomic regions that are responsible for the thermal adaptation of B. dorsalis. Based on a high-quality chromosome-level reference genome assembly, we explored the population relationship using a genome-scale single nucleotide polymorphism dataset generated from the resequencing data of 487 B. dorsalis genomes and 25 B. carambolae genomes. Genome-wide association studies and silencing using RNA interference were used to identify and verify the candidate genes associated with extreme thermal stress. We showed that B. dorsalis originates from the Southern India region with three independent invasion and spread routes worldwide: (i) from Northern India to Northern Southeast Asia, then to Southern Southeast Asia; (ii) from Northern India to Northern Southeast Asian, then to China and Hawaii; and (iii) from Southern India toward the African mainland, then to Madagascar, which is mainly facilitated by human activities including trade and immigration. Twenty-seven genes were identified by a genome-wide association study to be associated with 11 temperature bioclimatic variables. The Cyp6a9 gene may enhance the thermal adaptation of B. dorsalis and thus boost its invasion, which tended to be upregulated at a hardening temperature of 38 °C. Functional verification using RNA interference silencing against Cyp6a9 , led to the specific decrease in Cyp6a9 expression, reducing the survival rate of dsRNA-feeding larvae exposed to extreme thermal stress of 45 °C after heat hardening treatments in B. dorsalis. This study provides insights into the evolutionary history and genetic basis of temperature adaptation in B. dorsalis. [ABSTRACT FROM AUTHOR]

Background: Colorectal cancer (CRC) is the fifth leading cause of death in India. Until now, the exact pathogenesis concerning CRC signaling pathways is largely unknown; however, the diseased condition is believed to deteriorate with lifestyle, aging, and inherited genetic disorders. Hence, the identification of hub genes and therapeutic targets is of great importance for disease monitoring. Objective: Identification of hub genes and targets for identification of candidate hub genes for CRC diagnosis and monitoring. Materials and Methods: The present study applied gene expression analysis by integrating two profile datasets (GSE20916 and GSE33113) from NCBI-GEO database to elucidate the potential key candidate genes and pathways in CRC. Differentially expressed genes (DEGs) between CRC (195 CRC tissues) and healthy control (46 normal mucosal tissue) were sorted using GEO2R tool. Further, Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway analysis were performed using Cluster Profiler in Rv. 3.6.1. Moreover, protein-protein interactions (PPI), module detection, and hub gene identification were accomplished and visualized through the Search Tool for the Retrieval of Interacting Genes, Molecular Complex Detection (MCODE) plug-in of Cytoscape v3.8.0. Further hub genes were imported into ToppGene webserver for pathway analysis and prognostic expression analysis was conducted using Gene Expression Profiling Interactive Analysis webserver. Results: A total of 2221 DEGs, including 1286 up-regulated and 935down-regulated genes mainly enriched in signaling pathways of NOD-like receptor, FoxO, AMPK signalling and leishmaniasis. Three key modules were detected from PPI network using MCODE. Besides, top 20 high prioritized hub genes were selected. Further, prognostic expression analysis revealed ten of the hub genes, namely IL1B, CD44, Glyceraldehyde-3-phosphate dehydrogenase (GAPDH, MMP9, CREB1, STAT1, vascular endothelial growth factor (VEGFA), CDC5 L, Ataxia-telangiectasia mutated (ATM + and CDH1 to be differently expressed in normal and cancer patients. Conclusion: The present study proposed five novel therapeutic targets, i.e., ATM, GAPDH, CREB1, VEGFA, and CDH1 genes that might provide new insights into molecular oncogenesis of CRC. [ABSTRACT FROM AUTHOR]

Black gram is one of the most important short duration grain legume, which contributes significantly towards nutritional security and environmental sustainability. The virus specific primers confirms the presence of mungbean yellow mosaic India virus (MYMIV) in representative samples. A total of 27 cultivated and two wild species were found as highly resistant (HR) to MYMIV and validated through molecular markers. The start codon target (SCoT) markers analysis revealed that the SCoT loci, namely, SCoT‐4 (2200 bp), SCot‐9 (1150/ 1200 bp), SCoT‐15 (1150/1100 bp), SCoT‐16 (700 bp), SCoT‐24 (2500 bp), SCoT‐25 (700 bp), SCoT‐33 (900/1000 bp), and SCoT‐34 (600 bp), were found unique, able to distinguish HR and highly susceptible (HS) genotypes. Biochemical characterization and gene expression profiling revealed the higher expression of antioxidants and R‐genes just after pathogen inoculation indicated the activation of defence mechanism in both cultivated and its wild relatives, which modulates the resistant responses in cultivated and wild accessions. These information will be really helpful in accelerating resistance breeding in black gram. [ABSTRACT FROM AUTHOR]

This study investigated the effect of supplementing omega fatty acids‐rich oil blend, composed of sunflower oil (1.5% and 3.0%), linseed oil (1.5% and 3.0%), and FineXNV1810 (20 g) on the carcass, meat quality, fatty acid profile, and genes (peroxisome proliferator‐activated receptor‐α, stearoyl‐CoA desaturase, acetyl‐CoA carboxylase, hydroxy‐3‐methylglutaryl coenzyme A, and leptin) of Barbari goats. The goat kids (n = 18) were divided into three groups, namely, group A: basal diet; group B: basal diet + oil blend level 1; and group C: basal diet + oil blend level 2, and subjected to the feeding trial for 120 days followed by slaughter and meat quality studies. No treatment effect was recorded in carcass characteristics, pH, water holding capacity, and proximate composition of meat. However, a significant (p < 0.05) treatment effect was observed in cooking loss, lightness, yellowness, and shear force values of meat. There were significant differences (p < 0.05) in linoleic acid, α‐linolenic acids, conjugated linoleic acid (CLA), polyunsaturated fatty acids (PUFA), n − 3 and n − 6 PUFA, PUFA/saturated fatty acids and n − 6/n − 3 ratios, and thrombogenic index among groups. An upregulation of the studied genes in the supplemented groups was observed. There were upregulations in the studied genes in the supplemented groups. Practical applications: Goat meat is in great demand the world over, especially in tropical countries, including India, and does not carry any social or religious prohibition. Although goat meat has relatively less fat, consumers express their concern over the presence of undesirable fatty acids. The present study shows that the fatty acid configuration of goat meat can be improved by a dietary supplementation of an oil blend rich in omega fatty acids. The amount of n − 3 PUFA, n − 6 PUFA, and CLA in goat meat was significantly increased due to the dietary oil blend making it healthy for the consumers. Moreover, the dietary oil blend at the studied levels did not significantly affect the growth and meat quality parameters of the goats. Thus, the studied approach can be successfully followed to produce healthier goat meat. [ABSTRACT FROM AUTHOR]

Background: Carcinoma breast is the second most common malignancy next to carcinoma cervix in India and abroad. Hence, the expression of IL-10 m-RNA gene in tumour can be a novel prognostic indicator. Method: 30 mastectomy specimens of carcinoma Breast patients aged between 30 to 70 years were studied. 2 to 5 gram of tumour tissue and equivalent sample from normal peri-tumoral breast were taken from resected breast immediately after surgery and preserved in RNA-later solution. IL-10 m-RNA expression was detected and quantified by RT-PCR analysis through TaqMan chemistry, on 30 samples and 30 controls. After fixation with formalin 2 micro sections of 4-5micron thickness were taken from tumor area and corresponding paraffin blocks were prepared, mounted, on albumin coated slide for H & E staining and results were observed and recorded. Results: Histologically, 08 specimens were diagnosed as grade-I (26.5%), 16 were grade-II (53.5%) and 06 were grade-III (20%). 10 specimens (33.5%) had reactive lymph node, and the remaining 20 (66.5%) had metastatic lymph node. Mean RQ values for IL-10 were calculated by the formula for comparative ct (cycle threshold) method. 26 neoplastic tissue specimens (86.5%) showed strong expression of IL-10 mRNA, while only 2 (6.5%) normal peritumoral surrounding tissue showed IL-10 expression. 4 (13.5%) neoplastic tissue and 28 (93.5%) peritumoral tissue showed weak expression of IL-10. All grade 3 tumours showed strong expression of IL-10. Conclusion: Present pragmatic study had evidence that, IL-10 m-RNA gene expression was significant in neoplastic breast tissue and may have potential prognostic significance. [ABSTRACT FROM AUTHOR]

Aim: Oral cancer is one of the top three types of cancer and is of significant public health importance in India. A common post-translational modification in cells is ubiquitination/deubiquitination, and its dysregulation is closely associated with the development of cancer. Studies on the role of ubiquitination in oral squamous cell carcinoma (OSCC) are lacking. Increased expression of usp36 has been observed in various types of cancer, and this study aimed to check the gene expression of usp36 in OSCC patients. In this study, we analyzed the expression of ubiquitin-specific proteases (USPs) 36 in OSCC. Materials and Methods: A total of 15 OSCC patients at different stages of tumor differentiation and age- and sex-matched controls were recruited for the study. The patients were categorized based on their differentiation patterns. RNA was extracted from the tissues, and usp36 gene expression was checked in these samples using a quantitative real-time PCR technique. Results: Our study showed increased expression of usp36 gene in OSCC patients. The usp36 mRNA was 231.8 ± 137.94 folds higher in well-differentiated squamous cell carcinoma patients, 38.18 ± 3.77 folds higher in moderately differentiated squamous cell carcinoma patients, and 25.49 ± 7.30 folds higher in poorly differentiated squamous cell carcinoma patients compared to control tissues. Conclusion: Our study reports, for the first time, an increased gene expression of usp36 in OSCC tissues. [ABSTRACT FROM AUTHOR]

Background: Lymphocyte enhancer-binding factor-1 (LEF1) is responsible for melanocyte proliferation, migration and differentiation and its downregulation may result in depigmentation in vitiligo. Narrowband UVB (NB-UVB) phototherapy is known to enhance melanocyte migration from hair follicles to lesional epidermis; hence, it may have a role in the upregulation of LEF1. Objectives: We intended to assess the expression of LEF1 both before and after NB-UVB therapy and correlate it with the extent of re-pigmentation. Materials and methods: In this prospective cohort study, 30 patients of unstable non-segmental vitiligo were administered NB-UVB phototherapy for 24 weeks. Skin biopsies were obtained from acral and non-acral sites in all patients, both prior to initiation and after completion of phototherapy and LEF1 expression was measured. Results: Amongst the 16 patients who completed the study, at 24 weeks, all patients achieved > 50% re-pigmentation. However, > 75% re-pigmentation was achieved in only 11.1% of acral patches, whereas it was achieved in a significantly higher number of non-acral patches (66.6%) (p = 0.05). A significant increase was observed in the mean fluorescent intensity of the LEF1 gene in both acral as well as non-acral areas at 24 weeks as compared to baseline (p = 0.0078), However, no difference was observed between acral and non-acral lesions in the LEF1 expression at 24 weeks or the change in LEF1 expression from baseline. Conclusion: LEF1 expression modulates the re-pigmentation of vitiligo lesions after treatment with NBUVB phototherapy. [ABSTRACT FROM AUTHOR]

Problem: Recurrent pregnancy loss (RPL) is the spontaneous loss of two or more consecutive pregnancies prior to 20 weeks of gestation, occurring in 1% of the reproductive‐age population. It is a major cause of infertility in India with a staggering 7.46% prevalence rate. Method of study: Blood and product of conception (POCs) from RPL cases (n = 65) were enrolled for this study, along with cases of medically terminated pregnancy (MTP, n = 80) and term delivery cases (n = 90) as control. ELISA for progesterone and progesterone induced blocking factor (PIBF) levels was carried out, followed by mRNA expression analysis of progesterone receptor isoform B (PR‐B) and its downstream immunomodulatory effectors, namely, PIBF, IL‐10 and IL‐12. Screening of PROGINS haplotype of PR gene and PIBF polymorphism were also conducted to correlate with their respective gene expression profiles. Results: Serum progesterone level was found to be comparable in the RPL and MTP cases. Although the mRNA expression of PR‐B was found to be downregulated in the RPL cases, no significant PROGINS haplotype was observed. Presence of a single nucleotide polymorphism (SNP) in the PIBF gene (rs1372000) was more in healthy controls compared to RPL cases. Serum PIBF levels were found to be lower in the RPL cases with a resultant increase in IL‐12 and a decrease in IL‐10 mRNA expression in these cases. Conclusions: This study indicates that progesterone, acting through PIBF, modulates the immunological state of pregnancy to be Th1‐biased in RPL, indicative of a pro‐inflammatory, labour‐like state not desired for a healthy pregnancy. [ABSTRACT FROM AUTHOR]

Black-bone chicken (BBC) meat is popular for its distinctive taste and texture. A complex chromosomal rearrangement at the fibromelanosis (Fm) locus on the 20th chromosome results in increased endothelin-3 (EDN3) gene expression and is responsible for melanin hyperpigmentation in BBC. We use public long-read sequencing data of the Silkie breed to resolve high-confidence haplotypes at the Fm locus spanning both Dup1 and Dup2 regions and establish that the Fm_2 scenario is correct of the three possible scenarios of the complex chromosomal rearrangement. The relationship between Chinese and Korean BBC breeds with Kadaknath native to India is underexplored. Our data from whole-genome resequencing establish that all BBC breeds, including Kadaknath, share the complex chromosomal rearrangement junctions at the fibromelanosis (Fm) locus. We also identify two Fm locus proximal regions (~70 Kb and ~300 Kb) with signatures of selection unique to Kadaknath. These regions harbor several genes with proteincoding changes, with the bactericidal/permeability-increasing-protein-like gene having two Kadaknath-specific changes within protein domains. Our results indicate that protein-coding changes in the bactericidal/permeabilityincreasing-protein-like gene hitchhiked with the Fm locus in Kadaknath due to close physical linkage. Identifying this Fm locus proximal selective sweep sheds light on the genetic distinctiveness of Kadaknath compared to other BBC. [ABSTRACT FROM AUTHOR]

Simple Summary: In this study, we carried out global proteomic profiling of esophageal squamous cell carcinoma and adjacent non-neoplastic esophageal tissue to identify putative biomarkers and targets. We identified several differentially expressed proteins including PDPN, TOP2A, POSTN and MMP2 that were overexpressed in ESCC. We also identified overexpression of SOX2, TP63, IGF2BP2 and RNF13 that are encoded by 3q26 region, a known hotspot region in ESCC. Synoviolin 1 (SYVN1), a protein involved in endoplasmic reticulum (ER)-associated degradation and other ER stress response proteins were overexpressed in ESCC. SYVN1 could be a potential therapeutic target in ESCC. Esophageal squamous cell carcinoma (ESCC) is a heterogeneous cancer associated with a poor prognosis in advanced stages. In India, it is the sixth most common cause of cancer-related mortality. In this study, we employed high-resolution mass spectrometry-based quantitative proteomics to characterize the differential protein expression pattern associated with ESCC. We identified several differentially expressed proteins including PDPN, TOP2A, POSTN and MMP2 that were overexpressed in ESCC. In addition, we identified downregulation of esophagus tissue-enriched proteins such as SLURP1, PADI1, CSTA, small proline-rich proteins such as SPRR3, SPRR2A, SPRR1A, KRT4, and KRT13, involved in squamous cell differentiation. We identified several overexpressed proteins mapped to the 3q24-29 chromosomal region, aligning with CNV alterations in this region reported in several published studies. Among these, we identified overexpression of SOX2, TP63, IGF2BP2 and RNF13 that are encoded by genes in the 3q26 region. Functional enrichment analysis revealed proteins involved in cell cycle pathways, DNA replication, spliceosome, and DNA repair pathways. We identified the overexpression of multiple proteins that play a major role in alleviating ER stress, including SYVN1 and SEL1L. The SYVN1/SEL1L complex is an essential part of the ER quality control machinery clearing misfolded proteins from the ER. SYVN1 is an E3 ubiquitin ligase that ubiquitinates ER-resident proteins. Interestingly, there are also other non-canonical substrates of SYVN1 which are known to play a crucial role in tumor progression. Thus, SYVN1 could be a potential therapeutic target in ESCC. [ABSTRACT FROM AUTHOR]

Simple Summary: Aseel and Kadaknath are indigenous chicken breeds in India. Due to their distinctiveness, these two breeds are becoming more important. Aseel has a reputation for cockfighting and having high-quality meat. The black flesh of Kadaknath is famous, and it is mostly raised for its meat and eggs. Both breeds have heat and disease tolerances. The chicken interferon-inducible transmembrane protein (chIFITM) genes function by preventing the entry of viruses into host cells, inhibiting viral replication, and controlling the viral load. This research was conducted to ascertain the level of chIFITM gene expression against the Newcastle disease virus (NDV) in chicken embryo fibroblast cells of both breeds. There are five members of the chIFITM gene family: chIFITM1, chIFITM2, chIFITM3, chIFITM5, and chIFITM10. chIFITM1, 2, and 3 have immune-related activity; as a result, these three are referred to as immune-related IFITM (IR-IFITM). All the chIFITM genes were shown to be highly expressed in the CEF cells of both breeds during our investigation. The Kadaknath CEF cells had a significantly low viral load and a high quantity of mRNAs for the chIFITM genes when the breeds were compared. Aseel cells demonstrated an earlier onset of NDV-induced cytopathic changes compared to Kadaknath. Newcastle disease (ND) is highly contagious and usually causes severe illness that affects Aves all over the world, including domestic poultry. Depending on the virus's virulence, it can impact the nervous, respiratory, and digestive systems and cause up to 100% mortality. The chIFITM genes are activated in response to viral infection. The current study was conducted to quantify the mRNA of chIFITM genes in vitro in response to ND viral infection. It also examined its ability to inhibit ND virus replication in chicken embryo fibroblast (CEF) cells of the Aseel and Kadaknath breeds. Results from the study showed that the expression of all chIFITM genes was significantly upregulated throughout the period in the infected CEF cells of both breeds compared to uninfected CEF cells. In CEF cells of the Kadaknath breed, elevated levels of expression of the chIFITM3 gene dramatically reduced ND viral growth, and the viral load was 60% lower than in CEF cells of the Aseel breed. The expression level of the chIFITMs in Kadaknath ranged from 2.39 to 11.68 log2 folds higher than that of control CEFs and was consistently (p < 0.01) higher than Aseel CEFs. Similar to this, theIFN-γ gene expresses strongly quickly and peaks at 13.9 log2 fold at 48 hpi. Based on these cellular experiments, the Kadaknath breed exhibits the potential for greater disease tolerance than Aseel. However, to gain a comprehensive understanding of disease resistance mechanisms in chickens, further research involving in vivo investigations is crucial. [ABSTRACT FROM AUTHOR]

Background: Psoriasis is a chronic immune-mediated inflammatory disease affecting the skin and/or joints. MicroRNAs (miRNA) are single-stranded non-coding RNA molecules that bind to messenger RNA (mRNA) and regulate gene expression. Studies on peripheral blood mononuclear cells (PBMCs) in psoriatic patients showed an upregulation of miRNA 223. Aims and Objectives: a) To estimate and compare the expression of miRNA 223 in cases of chronic plaque psoriasis and controls. b) To correlate the expression of miRNA 223 with the severity of chronic plaque psoriasis. Materials and Methods: This study included 80 subjects (40 with psoriasis and 40 with age- and sex-matched healthy controls) attending the dermatology OPD of a tertiary care hospital from January 2018 to June 2019. A detailed history, determination of Psoriasis Area Severity Index (PASI) score and estimation of miRNA 223 by quantitative real-time polymerase chain reaction (qRT-PCR), was done in all subjects. Results: The expression of miRNA 223 (ΔCt) was higher in cases than in controls. The observed mean ΔCt was higher in severe (12.90 ± 0.46) than in mild (9.81 ± 1.70) and moderate (10.58 ± 1.26) psoriasis. The difference in expression of miRNA with varying severity of psoriasis was significant. The mean difference of ΔCt between mild to severe was (3.09) (P ≤ 0.001) and moderate to severe was (2.31) (P = 0.013). Among cases, the expression of miRNA 223 was higher in those exhibiting Koebner's phenomenon compared to those without Koebner's phenomenon (P = 0.0424). Conclusion: Expression of miRNA 223 was higher in psoriatic patients than in controls and the expression increased with the severity and activity of the disease suggesting the upregulation of miRNA 223 with the progression and activity of the disease. [ABSTRACT FROM AUTHOR]

Background: One of the most important research activities around the world is the screening of various plant components for novel anticancer medicines. The anticancer activities of Aconitum heterophyllum were studied in human breast cancer MDA-MB-231 cells in this study. Since tumorigenesis is thought to be the result of a series of progressive gene alterations, including oncogene activation and tumour suppressor gene in-activation, the expression of genes like p53, p21, STAT, and Bcl-2, which are thought to be important in tumorigenesis and cell death, was determined. In the present study there was an upregulation in the level expression of p53and p21 and down regulation in the expression of BCL2 and STAT. However, there is increase and decrease level of gene expression in Aconitum heterophyllum roots loaded Phyto-Niosomes (nEEAH), when compared to ethanolic root extract of Aconitum heterophyllum EEAH extract treated MDA-MB-231 cell lines. Methods: The enzymatic antioxidants such as CAT, SOD, GR, GST, and GPX as well as non-enzymatic antioxidants such as glutathione, Vitamin E and Vitamin C were estimated in the treated MDA-MB-231 cells at the end of incubation. The RT-PCR technique was performed to study the expression patterns of apoptotic genes such as p53 and p21 and anti-apoptotic genes BCL2 and STAT in the drug treated MDA-MB-231 cells Results: In the present study there was a significant (p<0.05) increase in CAT and glu-tathione levels and a decrease in Vit C, Vit E and SOD, GR, GST, GPX levels in the untreated MDA-MB-231 cells. Increased apoptotic gene expression and decreased anti-apoptotic gene expression suggest the anti-proliferative nature of the drug extract was comparable to the doxorubicin the positive drug used in the present study. Conclusion: It can be concluded that the ethanolic extract of Aconitum heterophyllum roots loaded Phyto-Niosomes (nEEAH), when compared to ethanolic root extract of Aconitum heterophyllum EEAH extract treated MDA-MB-231 cell lines exert its anti-cancer activity by activating the apoptotic genes, suppressing anti-apoptotic genes as well as modulating the antioxidant enzymes. [ABSTRACT FROM AUTHOR]

Background: Labeo rohita is the most preferred freshwater carp species in India. The concern of increasing salinity concentration in freshwater bodies due to climate change may greatly impact the aquatic environment. Gills are one of the important osmoregulatory organs and have direct contact with external environment. Hence, the current study is conducted to understand the gill transcriptomic response of L. rohita under hypersalinity environment. Results: Comprehensive analysis of differentially expressed long non-coding RNAs (lncRNAs), microRNAs (miRNAs) and mRNAs was performed in gills of L. rohita treated with 2, 4, 6 and 8ppt salinity concentrations. Networks of lncRNA-miRNA-mRNA revealed involvement of 20, 33, 52 and 61 differentially expressed lncRNAs, 11, 13, 26 and 21 differentially expressed miRNAs in 2, 4, 6 and 8ppt groups between control and treatment respectively. These lncRNA-miRNA pairs were regulating 87, 214, 499 and 435 differentially expressed mRNAs (DE mRNAs) in 2, 4, 6 and 8ppt treatments respectively. Functional analysis of these genes showed enrichment in pathways related to ion transportation and osmolyte production to cope with induced osmotic pressure due to high salt concentration. Pathways related to signal transduction (MAPK, FOXO and phosphatidylinositol signaling), and environmental information processing were also upregulated under hypersalinity. Energy metabolism and innate immune response pathways also appear to be regulated. Protein turnover was high at 8ppt as evidenced by enrichment of the proteasome and aminoacyl tRNA synthesis pathways, along with other enriched KEGG terms such as apoptosis, cellular senescence and cell cycle. Conclusion: Altogether, the RNA-seq analysis provided valuable insights into competitive endogenous (lncRNA-miRNA-mRNA) regulatory network of L. rohita under salinity stress. L. rohita is adapting to the salinity stress by means of upregulating protein turnover, osmolyte production and removing the damaged cells using apoptotic pathway and regulating the cell growth and hence diverting the essential energy for coping with salinity stress. [ABSTRACT FROM AUTHOR]

This Scientometric study aimed to provide state-of-the-art information on research growth and trends, areas of potential growth and development in genomics in India, and identify the key players (organizations or institutions, and funding agencies). It was found that the number of publications and citations related to genomics research has been steadily increasing over the years, indicating a growing interest and investment in the field as the Indian Council of Agricultural Research was the leading contributor to the field. Among the 159 contributing countries from 2012 to 2021, India contributed 4.46% of publications. The Department of Biotechnology (Ministry of Science and Technology, India) provided the most funds for genomics research. In the last decade, research was primarily focused on "Genetic Diversity," "Polymorphism," "Comparative Genomics," "Phylogeny," " Random amplification of polymorphic DNA (RAPD)," "Single nucleotide polymorphism (SNP)," "Polymerase chain reaction (PCR)," "Gene Expression," etc. The study's findings may shed light on the strengths and weaknesses of the country's research infrastructure, as well as the effectiveness of government policies and funding mechanisms. [ABSTRACT FROM AUTHOR]

Background: Breast cancer is the most common malignant tumor and the leading cause of female mortality. Its incidence and prevalence are rapidly increasing worldwide. Age <35 years, multiple nodal involvements, ad increased size and grade are the bad prognostic factors indicating a higher risk of recurrence. Early diagnosis of breast cancer is one of the best approaches to prevent this disease. Aim: The aim of this study is to develop an understanding of the relationship between cytokeratin (CK) 5/6 and CK 8/18 expression and the Bloom–Richardson (BR) grading of carcinoma breast. Materials and Methods: The present observational, analytical, and cross-sectional study investigated CK 5/6 and CK 8/18 expression in relation to the BR grade in 50 cases of infiltrating ductal carcinoma. Hematoxylin and eosin staining for BR grade and immunohistochemistry for CK 5/6 and CK 8/18 was carried out in the histopathology and immunohistochemistry sections of the Department of Pathology, Jawaharlal Nehru Medical College, Sawangi (M). Results: Out of 50 cases, CK 5/6 expression was observed in the majority of BR Grade III cases (87.50%) indicating a basal phenotype, and CK 8/18 expression was seen in the majority of BR Grade I cases (92.86%) signifying a luminal phenotype. The P value interpretation was found to be statistically significant (<0.05). Conclusions: CKs along with BR grading can be used as an alternative tool for predicting the endocrine status of carcinoma breast instead of employing an expensive panel of markers. [ABSTRACT FROM AUTHOR]

Introduction: In India, OVCa is women's third most common and lethal cancer type, accounting for 6.7% of observed cancer incidences. The contribution of somatic mutations, aberrant expression of gene and splice forms in determining the cell fate, gene networks, tumour-specific variants, and the role of immune fraction infiltration have been proven essential in understanding tumorigenesis. However, their interplay in OVCa in a histotype-specific manner remains unclear in the Indian context. In the present study, we aimed to unravel the Indian population histotype-specific exome variants, differentially expressed gene modules, splice events and immune profiles of OVCa samples. Methods: We analysed 10 tumour samples across 4 ovarian cancer histotypes along with 2 normal patient samples. This included BCFtool utilities and CNVkit for exome, WGCNA and DESeq2 for obtaining differential module hub genes and dysregulated miRNA targets, CIBERSORTx for individual immune profiles and rMATS for tumour specific splice variants. Result: We identified population-specific novel mutations in Cancer Gene Census Tier1 and Tier2 genes. MUC16, MUC4, CIITA, and NCOR2 were among the most mutated genes, along with TP53. Transcriptome analysis showed significant overexpression of mutated genes MUC16, MUC4, and CIITA, whereas NCOR2 was downregulated. WGCNA revealed histotype-specific gene hubs and networks. Among the significant pathways, alteration in the immune system was one of the pathways, and immune profiling using CIBERSORTx revealed histotype-specific immune cell fraction. miRNA analysis revealed miR-200 family, miR-200a and miR-429 were upregulated in HGSOCs.Splice factor abrasion caused splicing perturbations, with the most abundant alternative splice event being exon skipping and the most spliced gene, SNHG17. Pathway analysis of spliced genes revealed translational elongation and Base excision repair as the pathways altered in OVCa. Conclusion: Integrated exome, transcriptome, and splicing patterns revealed different population-specific molecular signatures of ovarian cancer histotypes in the Indian Cohort. [ABSTRACT FROM AUTHOR]

An investigation was carried out on Deoni animals of western India to study the allelic and genotypic frequencies in coding region of TYR gene as well as gene expression profile. The animals were grouped according to age, gender, strain and intensity of partial albinism (low, medium and high). The present study revealed that the genotypic frequency of TYR gene across different strains, gender, age group and level of partial albinism was found to be non-significant for both exon-I and exon-II. The AB genotype in Balankya (0.70) was observed highest genotypic frequency followed by Wanera (0.55) and Shewara (0.55) strains. The genotypic frequency of AB and BB genotypes were observed highest in male and female, respectively. In exon-I, genotype frequency of AA genotype was found highest (0.55) in low level of partial albinism. The allelic frequencies in Shewara strain, male and low level of partial albinism were 0.75, 0.63 and 0.73, respectively. However, in exon-II genotype frequency of AB and BB was observed highest (0.70) in Wanera and Balankya strains followed by AA genotype in Shewara (0.50). The highest genotypic frequency of AA (0.87) and BB (0.50) were in male and female, respectively. The genotype frequency of AB genotype was found highest in all level of partial albinism. The allelic frequency was highest (0.85 for B allele) in Wanera strain, male (0.80 for A allele) and high level (0.60 for A allele) of particle albinism. The highly significant (p = 0.002) expression of tyrosinase gene was observed in young animals as compared to adult animals. The TYR gene expression was significantly (p = 0.047) higher in animals with low intensity of partial albinism followed by in the animals with medium and high intensity. Therefore, it is inferred that the TYR gene expression in young animals were high and as compared to the old animals of Deoni cattle breed. [ABSTRACT FROM AUTHOR]

BACKGROUND: miRNAs play a crucial role in the genesis of cancer, either as tumor suppressor genes or as oncogenes. Single Nucleotide Polymorphisms (SNPs) in the seed region of microRNAs (miRNAs) can dysregulate their levels in the tissues and thereby affect carcinogenesis. The association of SNP in miR-146a (rs2910164) with the risk of oral squamous cell carcinoma (OSCC) has not been understood. OBJECTIVE: In the present study, we have determined the association and functional significance of miR-146a (rs2910164) SNP with susceptibility to OSCC predisposition. METHODS: In the present case-control study, we enrolled 430 subjects from central India (215 OSCC cases and 215 healthy controls). We performed genotyping by Kompetitive Allele Specific PCR (KASP), and their correlation with OSCC susceptibility was analyzed. miRNA expression profiling in tumor tissues and adjacent normal tissues from six OSCC patients was done by a NanoString n-Counter-based assay. Subsequently, gene ontology and pathway analysis were performed with FunRich version 3.13. RESULTS: The CC genotype of rs2910164 miR-146a was significantly associated with the increased risk for OSCC (CC vs GC, OR = 2.62; 95% CI: 1.48–4.66; p value = 0.001). However, the GC genotype was protective with GC vs CC (OR = 0.38, 95%CI = 0.21–0.67, p -value = 0.001), and GC vs GG (OR = 0.58, 95%CI = 0.37–0.89, p -value = 0.01). CONCLUSION: Our finding suggests that SNP rs2910164 of miR-146a may be a genetic risk factor for OSCC susceptibility in the Central India population. However, more extensive multicenter studies are required to validate these findings. [ABSTRACT FROM AUTHOR]

The bakanae disease of rice, or foolish seedling disease, is a well-known pathogen infecting rice hosts. Several studies have characterized Fusarium fujikuroi isolates collected from distant geographical regions and within similar geographical areas for secondary metabolite production, population structure, and diversity analysis, but none have attempted to characterize the isolates for virulence in a differential set of rice genotypes. Based on the disease response, a set of five rice genotypes with differing resistance levels were selected as a differential set for further characterization of the pathogen. Ninety-seven Fusarium fujikuroi isolates collected from different rice-growing areas of the country during the years 2011 to 2020 were characterized and evaluated for bakanae disease. Rice genotypes PB1509 and C101A51 were found to be highly susceptible and highly resistant, respectively. Further, based on the disease response, the isolates were grouped into 15 pathotypes. Pathotype 1, with the maximum isolates (19), was observed to be most prevalent, followed by pathotypes 2 and 3. Pathotype 8 was classified as highly virulent, as all the genotypes were susceptible, except for C101A51. When we compared the pathotype distribution in different states, pathotypes 11 and 15 were found to have originated from the state of Punjab. A positive correlation could be established between six pathotype groups and the gene expression of virulence-related genes such as acetylxylan (FFAC), exopolygalacturanase (FFEX), and pisatin demethylase (FFPD). The present study provides the distribution profiles of different pathotypes in Basmati-growing states of India, which will be further helpful for the deployment of breeding strategies and bakanae disease management. [ABSTRACT FROM AUTHOR]

Mango is flavour-rich fruit and considered as king of fruit in India. About 578 volatile compounds have so far been identified in various cultivars. These are believed to accumulate differentially during the course of ripening. In order to understand the molecular mechanism of aroma in mango, de novo transcriptome assembly and analysis of Mangifera indica (Dashehari) were performed by Illumina sequencing. Mining of transcriptome data led to identification of major genes related to most of the genes of terpenoid, carotenoid, flavonoid, lactone, lipoxygenase, aromatic amino acid, alkaloid, and phenylpropanoid pathways, which are potentially involved in aroma biosynthesis. Comparative mRNA expression analysis in five Mango varieties (Dashehari, Banganpalli, Ratna, Mallika, and Alphonso) revealed varietal and ripening-related differences. To gain further insight into the terpenoid pathway, these genes were further studied in different tissues and developmental stages in Dashehari mango. This study is stepping stone to understand aroma pathways in different varieties of mango fruit. [ABSTRACT FROM AUTHOR]

The present study was conducted at Institute of Biotechnology (IBT), Rajendranagar, Hyderabad, Telangana, India in kharif, 2022 (July‒October) to characterize yield enhancing genes in rice by in Silico Approach. Increasing the rice grain yield is a major constraint to feed the present burgeoning population which is anticipated to reach nine billion by 2050. In this regard many yield enhancing genes have been characterized for improving the yield potential in rice. Present study was undertaken on eight yield enhancing genes of rice for their structural and functional characterization by in silico approach. The conserved motif sequences shared across eight yield enhancing genes were identified and their positions on the genome were reported. The Spatio-temporal expression pattern of the yield genes in different stages of rice was studied, of which Gn1a and SPL14 genes shown higher level of expression at embryo and inflorescence stages respectively. Further, the expression patterns of these genes to different hormonal exposures were recorded in which Gn1a gene showed higher level of expression to cytokinin hormone in root and shoot tissues. The structure analysis for the above eight genes recorded the exon number between 2‒10 along with their positions on the gene. Along with the protein characters of the above eight proteins, their potential interacting partners were identified, which shown their interactions to proteins controlling the flowering time, floral organ formation and regulating the grain size in rice. [ABSTRACT FROM AUTHOR]

Spot blotch caused by Bipolaris sorokiniana is an economically significant disease of wheat that can cause yield losses up to 70%. It is a disease of great concern, especially in South Asia and Latin American countries, where warm-humid conditions persist during the wheat cropping season. In eastern parts of India, it is a major issue which sometimes occurs up to epidemic proportions. Lacking suitable resistant genes in high-yielding cultivars further add to the problem and reason of huge yield losses. Resistant gene analog (RGAs) are a class of resistant genes with conserved modules provides resistance against such devastating pathogens. They resist a plethora of disease-causing pathogen and orchestrated a response via activating numerous downstream cascades of pathogenesis ultimately leads to survival under biotic encounter. Here, we postulated that expression of these genes are modulated upon infection in resistant cultivar (BHU-35) compared to known susceptible cultivar i.e., Sonalika at seedling stage upon artificial infestation of two diverse isolates PUSA2 and HD3069, individually. Moreover, these sequences act as a genic marker in the cultivar and could be used to differentiate resistant from the susceptible ones. This study about RGAs genes provides a novel genic marker-assisted differential gene expression in contrasting cultivars and thus, use to generate resistance in susceptible cultivars by stacking these classes of genes using molecular breeding/biotechnological approaches. An increasing proportion of such devastating diseases in wheat-growing regions necessitated the development of resistant varieties to tackle the disease. [ABSTRACT FROM AUTHOR]

Background: Type 2 diabetes mellitus (T2DM) is the most common metabolic disorder. The aim of the present investigation was to identify gene signature specific to T2DM. Methods: The next generation sequencing (NGS) dataset GSE81608 was retrieved from the gene expression omnibus (GEO) database and analyzed to identify the differentially expressed genes (DEGs) between T2DM and normal controls. Then, Gene Ontology (GO) and pathway enrichment analysis, protein-protein interaction (PPI) network, modules, miRNA (micro RNA)-hub gene regulatory network construction and TF (transcription factor)-hub gene regulatory network construction, and topological analysis were performed. Receiver operating characteristic curve (ROC) analysis was also performed to verify the prognostic value of hub genes. Results: A total of 927 DEGs (461 were up regulated and 466 down regulated genes) were identified in T2DM. GO and REACTOME results showed that DEGs mainly enriched in protein metabolic process, establishment of localization, metabolism of proteins, and metabolism. The top centrality hub genes APP, MYH9, TCTN2, USP7, SYNPO, GRB2, HSP90AB1, UBC, HSPA5, and SQSTM1 were screened out as the critical genes. ROC analysis provides prognostic value of hub genes. Conclusion: The potential crucial genes, especially APP, MYH9, TCTN2, USP7, SYNPO, GRB2, HSP90AB1, UBC, HSPA5, and SQSTM1, might be linked with risk of T2DM. Our study provided novel insights of T2DM into genetics, molecular pathogenesis, and novel therapeutic targets. [ABSTRACT FROM AUTHOR]

Introduction: Antifungal therapy for aspergillosis is becoming problematic because of the toxicity of currently available drugs, biofilm formation on host surface, and increasing prevalence of azole resistance in Aspergillus fumigatus. Plants are rich source of bioactive molecules and antimicrobial activity of aromatic bioactive compounds draws attention because of its promising biological properties. The present study elucidated the antibiofilm activity of 4-allyl-2-methoxyphenol (eugenol) against azole-resistant environmental A. fumigatus isolates. Methods: Soil samples were collected from agricultural fields across India; azoleresistant A. fumigatus (ARAF) were isolated followed by their molecular identification. Antibiofilm activity of eugenol was calculated via tetrazolium based-MTT assay. The expression of the multidrug efflux pumps genes MDR1, MDR4, transporters of the MFS gene, erg11A gene encoding 14a demethylase, and transcription regulatory genes, MedA, SomA and SrbA, involved in biofilm formation of A. fumigatus were calculated by quantitative real time PCR. Results: Out of 89 A. fumigatus isolates, 10 were identified as azole resistant. Eugenol exhibited antibiofilm activity against ARAF isolates, ranging from 312 to 500 µg/mL. Confocal laser scanning microscopy analysis revealed absence of extracellular matrix of ARAF biofilm after eugenol treatment. The gene expression indicated significantly low expression of efflux pumps genes MDR1, MDR4, erg11Aand MedA in eugenol treated ARAF isolates when compared with untreated isolates. Conclusions: Our results demonstrate that eugenol effects the expression of efflux pump and biofilm associated genes as well as inhibits biofilm formation in azole resistant isolates of A. fumigatus. [ABSTRACT FROM AUTHOR]

Background: FOXO3, a member of the FOX transcription factor family, is frequently described as being deregulated in cancer. Additionally, notable role of FOXO3 can be easily recognized in the process of ageing and survival. Even though various studies have been done to acknowledge the tumour-suppressive or oncogenic role of FOXO3 in cancer, still there exist a lack of understanding in terms of cancer prognosis and treatment. Therefore, to provide better insight, our study aims to evaluate the role and function of FOXO3 in breast cancer in Indian female patients. We examined the FOXO3 expression levels in breast cancer samples by analyzing mRNA and protein expression along with its clinicopathological parameters. Results: A total of 127 cases of breast cancer with equal normal cases (n=127) were assessed with methylation (MS-PCR), Immunohistochemistry (IHC), mRNA expression using Real-time PCR was analysed and 66.14% cases at mRNA level were found to be downregulated, while 81.10% of cases had little or very little protein expression. Our data state, the promoter hypermethylation of the FOXO3 gene and the downregulated protein expression are significantly correlated (p=0.0004). Additionally, we found a significant correlation between the level of FOXO3 mRNA with ER (p=0.04) and status of lymph node (p=0.01) along with this. Conclusion: Data suggests the prognostic significance and the tumour-suppressive role of FOXO3 in breast cancer cases studied in India. However, there is a need for the extended research targeting FOXO3 to measure its clinical potential and develop well-defined therapeutic strategies. [ABSTRACT FROM AUTHOR]

Manipulation of flowering time for adaptation through natural or genetic approaches may combat heat-stress damage that occurs at the reproductive stages in production conditions. HD2733, a popular wheat variety of the eastern plains of India, is largely sensitive to heat stress. Therefore, the current study aims to improve heat tolerance of HD2733 by introgression of QTLs associated with early anthesis and high kernel weight linked to markers Xbarc186 and Xgwm190, respectively, through marker-assisted backcross breeding (MABB) from a tolerant donor, WH730. A total of 124 simple sequence repeat (SSR) markers distributed evenly across the genome were used for the background selection. The alleles of Xbarc186 and Xgwm190 were fixed in BC2F1 and BC1F2 generations by selecting individual plants heterozygous for both marker loci and backcrossed with HD2733 and simultaneously selfed to generate BC2F1 and BC1F2 populations, respectively. Furthermore, the selected BC1F2 were selfed to generate the BC1F4 population. By background screening, a total of 39 BC2F3 and 21 BC1F4 families homozygous for the targeted QTLs with 90.9-97.9% and 86.8-88.3% RPG recoveries were selected. The best performing 17 BC2F3 and 10 BC1F4 lines were evaluated for various morpho-physiological traits. Phenotypic evaluation and multi-location trials of the introgressed lines under late sown conditions led to the selection of three promising lines with early anthesis and higher grain yield. The improved lines will serve as an excellent genetic material for functional genomics and expression studies to understand the molecular mechanisms and pathways underlying the stress tolerance. [ABSTRACT FROM AUTHOR]