Genetic Studies on Multiple Consanguineous Families Segregating Diverse Phenotypes of Microphthalmia Identified Novel and Recurrent Mutations.

Introduction: Anophthalmia/microphthalmia (A/M) and anterior segment dysgenesis (ASD) are severe ocular anomalies impacting eye morphology, occurring in 30 per 100,000 live births. Genetic research has identified over 30 genes linked to A/M anomalies, with their products mainly involved in eye organogenesis.

Aims And Objectives: This study examined two consanguineous A/M families to identify disease-associated pathogenic mutations and predict their functional impact.

Computational analysis on non-synonymous single nucleotide polymorphisms (nsSNPs) in L-type lectin receptor kinases (LECRK) protein in Arabidopsis Thaliana.

L-type lectin receptor kinases (LECRK) plays a significant role in biotic and abiotic stress response against environmental stimuli in plants. In the Arabidopsis model plant, a total of 45 LECRK was identified but function elucidation is still unresolved. This study carried out a comprehensive analysis of the SNPs associated with L-type lectin protein and how these mutations affect the structure and function of the protein.

Identification of candidate nsSNPs of the human FNDC5 gene and their structural and functional consequences using in silico analysis.

Fibronectin type-III domain containing protein-5 (FNDC5), predominantly expressed in skeletal muscles, encodes FNDC5 transmembrane-protein. A segment of this protein is cleaved and secreted into blood as irisin, which promotes browning of white adipose tissue, leading to energy expenditure. It functions synergistically with fibroblast growth factor-21 (FGF21).

Application of bacterioruberin from sp. isolated from Xinjiang desert to extend the shelf-life of fruits during postharvest storage.

Post-harvest losses and rapid fruit ripening at room temperature are major challenges in preserving fruit quality. This study aimed to reduce such losses by applying a red carotenoid pigment, bacterioruberin extracted from an sp. The carotenoid was characterized as bacterioruberin and its derivative tetra anhydrous bacterioruberin (λmax 490 nm), and an / value of 675 and 742 (M+ 1H).

Exploring the genomic potential of Kytococcus schroeteri for antibacterial metabolites against multi-drug resistant Mycobacterium tuberculosis.

The versatile bacterium Kytococcus schroeteri is known for producing putative secondary metabolites. These include antimicrobials and other therapeutically significant compounds. The emergence of antibiotic-resistant pathogens has necessitated the exploration of possible sources for novel drug candidates.

Tetra aniline-based polymers ameliorate BPA-induced cardiotoxicity in Sprague Dawley rats, in silico and in vivo analysis.

Aims: Bisphenol A (BPA), xenoestrogen, is an environmental toxicant, that generates oxidative stress leading to cardiotoxicity. The oxidative stress can be neutralized by natural and synthetic antioxidants. The present study elucidates the highly selective antioxidative potential of synthetic tetra aniline polymers Es-37 and L-37 against Bisphenol A-induced cardiac cellular impairments and the role of miRNA-15a-5p in the regulation of different apoptotic proteins.

Identifying plant-derived antiviral alkaloids as dual inhibitors of SARS-CoV-2 main protease and spike glycoprotein through computational screening.

COVID-19 is currently considered the ninth-deadliest pandemic, spreading through direct or indirect contact with infected individuals. It has imposed a consistent strain on both the financial and healthcare resources of many countries. To address this challenge, there is a pressing need for the development of new potential therapeutic agents for the treatment of this disease.

Computational design of experimentally validated multi-epitopes vaccine against hepatitis E virus: An immunological approach.

Hepatitis E virus (HEV) is one of the leading acute liver infections triggered by viral hepatitis. Patients infected with HEV usually recover and the annual death rate is negligible. Currently, there is no HEV licensed vaccine available globally.

Exploring Novel 1-Hydroxynaphthalene-2-Carboxanilides Based Inhibitors Against C-Jun N-Terminal Kinases Through Molecular Dynamic Simulation and WaterSwap Analysis.

Cancer is a disease of mutation and lifestyle modifications. A large number of normal genes can transform normal cells to cancer cells due to their deregulations including overexpression and loss of expression. Signal transduction is a complex signaling process that involves multiple interactions and different functions.

Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms.

Introduction: Intellectual disability (ID) is a clinically and genetically heterogeneous disorder. It drastically affects the learning capabilities of patients and eventually reduces their IQ level below 70.

Methods: The current genetic study ascertained two consanguineous Pakistani families suffering from autosomal recessive intellectual developmental disorder-5 (MRT5).

Biological Evaluation and Computational Studies of Methoxy-flavones from Newly Isolated Radioresistant Micromonospora aurantiaca Strain TMC-15.

This study aims to determine UV-B resistance and to investigate computational analysis and antioxidant potential of methoxy-flavones of Micromonospora aurantiaca TMC-15 isolated from Thal Desert, Pakistan. The cellular extract was purified through solid-phase extraction and UV-Vis spectrum analysis indicated absorption peaks at λ 250 nm, 343 nm, and 380 nm that revealed the presence of methoxy-flavones named eupatilin and 5-hydroxyauranetin. The flavones were evaluated for their antioxidant as well as protein and lipid peroxidation inhibition potential using di(phenyl)-(2,4,6-trinitrophenyl) iminoazanium (DPPH), 2,4-dinitrophenyl hydrazine (DNPH), and thiobarbituric acid reactive substances (TBARS) assays, respectively.

Repurposing FIASMAs against Acid Sphingomyelinase for COVID-19: A Computational Molecular Docking and Dynamic Simulation Approach.

Over the past few years, COVID-19 has caused widespread suffering worldwide. There is great research potential in this domain and it is also necessary. The main objective of this study was to identify potential inhibitors against acid sphingomyelinase (ASM) in order to prevent coronavirus infection.

Evaluation of Novel Honokiol Derivatives against Breast Cancer Target Protein .

Background: Breast cancer is characterized by uncontrolled cell growth in the breast tissue and is a leading cause of death globally. Cytotoxic effects and reduced efficacy of currently used therapeutics insist to look for new chemo-preventive strategies against breast cancer. gene has recently been categorized as a tumor suppressor gene where its inactivation can cause sporadic carcinomas in various tissues.

A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.

Background: Isolated growth hormone deficiency (IGHD) is caused by a severe shortage or absence of growth hormone (GH), which results in aberrant growth and development. Patients with IGHD type IV (IGHD4) have a short stature, reduced serum GH levels, and delayed bone age.

Objectives: To identify the causative mutation of IGHD in a consanguineous family comprising four affected patients with IGHD4 (MIM#618157) and explore its functional impact .

Immunoinformatics Approach to Design a Multi-Epitope Vaccine against Cutaneous Leishmaniasis.

Cutaneous Leishmaniasis (CL), a neglected vector-borne disease caused by protozoan parasite Leishmania major (), is a major public health concern, and the development of new strategies to reduce the disease incidence has become a top priority. Advances in immunoinformatics and in-silico epitope prediction could be a promising approach to designing a finest vaccine candidate. In this study, we aimed to design a peptide-based vaccine against CL using computational tools and identified ten B-cell-derived T-cell epitopes from the glycoprotein gp63 of .

drug design for the novel Karachi-NF001 strain of brain-eating amoeba: .

() is a free-living thermophilic amoeba of fresh water and soil. The amoeba primarily feeds on bacteria but can be transmitted to humans upon contact with freshwater sources. Furthermore, this brain-eating amoeba enters the human body through the nose and travels to the brain to cause primary amebic meningoencephalitis (PAM).

Computational Based Designing of a Multi-Epitopes Vaccine against .

The emergence of antibiotic resistance in bacterial species is a major threat to public health and has resulted in high mortality as well as high health care costs. is one of the etiological agents of health care-associated infections. As no licensed vaccine is available against the pathogen herein, using reverse vaccinology, bioinformatics, and immunoinformatics approaches, a multi-epitope-based vaccine against was designed.

Pan-Genome-Assisted Computational Design of a Multi-Epitopes-Based Vaccine Candidate against .

is a Gram-negative bacterium from the family and genus . The pathogen is a causative agent of gastroenteritis, cellulitis, and bacteremia. The increasing antibiotic resistance pattern of the pathogen prompts the efforts to develop a vaccine to prevent dissemination of the bacteria and stop the spread of antibiotic resistance (AR) determinants.

Effect of on Gastrointestinal Protection and Toxicology in Rodents Investigating H/K-ATPase, Calcium Channels, and PDE Mediated Signaling.

This present study aims to delineate crude extract (Rd.Cr), n-Hexane, ethyl acetate, aqueous fractions (Rd.n-Hex, Rd.

Design of Multi-Epitope Vaccine for : Pan-Genome and Reverse Vaccinology Approach.

Staphylococcus saprophyticus is a Gram-positive coccus responsible for the occurrence of cystitis in sexually active, young females. While effective antibiotics against this organism exist, resistant strains are on the rise. Therefore, prevention via vaccines appears to be a viable solution to address this problem.

An Evolutionary Insight Into the Heterogeneous Severity Pattern of the SARS-CoV-2 Infection.

The ongoing pandemic of COVID-19 has elaborated an idiosyncratic pattern of SARS-CoV-2-induced symptoms in the human host. Some populations have succumbed to the SARS-CoV-2 infection in large numbers during this pandemic, whereas others have shown a resilient side by manifesting only milder or no symptoms at all. This observation has relayed the onus of the heterogeneous pattern of SARS-CoV-2-induced critical illness among different populations to the host genetic factors.