Novel mutation and structural characterization in families with optic nerve hypoplasia.

Aim: To detect and segregate causative mutations in congenital families with optic nerve hypoplasia (ONH).

Methods: Two unrelated consanguineous Pakistani families with severe ONH, showing features of micropthalmia, nystagmus, corneal opacity, and keratopathy were included. Genetic analysis was carried out by Target Panel Sequencing, and the nucleotide variant was confirmed by Sanger sequencing.

Role of metabolomic changes in diagnosis and assessment of treatment response in acute myeloid leukemia.

Acute Myeloid Leukemia (AML) is an aggressive cancer characterized by the rapid proliferation of abnormal myeloid cells. Despite advancements in treatment, patient outcomes remain variable, underscoring the need for more accurate diagnostic and prognostic tools. Metabolomics has gained attention for its potential to offer new insights into disease mechanisms and progression.

Quercetin as a multi-targeted therapeutic agent in breast cancer: molecular targets and therapeutic potential.

Breast cancer is a worldwide serious health issue with constantly recurring issues of drug resistance, toxicity, and recurrence. These limitations have prompted research on various drug compounds, particularly those derived from plants. Quercetin is one such compound, a flavonol dietary component.

Identification and evaluation of pyrimidine based CDK6 inhibitors against glioblastoma using integrated computational approaches.

Cyclin-dependent kinases (CDKs) are crucial for controlling the cell cycle, and many malignancies are linked to CDK dysfunction. Therefore, CDKs are desirable targets for cancer treatment. Since abnormal expression of CDK4/6 is the etiology of glioblastoma, it is imperative to investigate the mechanism underlying CDK4/6 selectivity for inhibitors compared to CDK1/2, another member of the family.

Liquid biopsy in breast cancer: clinical implications of ctDNA and CTCs in diagnosis, treatment and monitoring.

One of the leading causes of cancer-related death in women is breast cancer (BC). BC is a heterogeneous tumor. Although tissue biopsy is the gold standard for the diagnosis of BC, often tissue specimens are not informative enough about the tumor heterogeneity.

MUC1 aptamer-functionalized chitosan nanoparticles: Targeted delivery platforms for synergistic cancer therapy and multidrug resistance overcoming.

Recent advances in nanomedicine have paved the way for innovative targeted cancer therapies, particularly through the development of multifunctional nanoscale drug delivery systems. MUC1 aptamer-functionalized chitosan nanoparticles have emerged as a promising platform for the precise delivery of therapeutic agents to MUC1-overexpressing tumors. This review article synthesizes recent studies that employ these engineered nanocarriers to enhance therapeutic efficacy and mitigate multidrug resistance (MDR) in various cancer models.

Multiscale computational evaluation of Vitex trifolia phytochemicals as VEGFR2 inhibitors for targeted breast cancer therapy.

Breast cancer (BC), the second most common cancer, is a genetically heterogeneous disease driven by angiogenesis, cell growth, metastasis, and oxidative stress. VEGFR2, a key angiogenesis regulator, presents a potential target for inhibiting the angiogenic process essential for tumor growth. The present study aimed to investigate the therapeutic potential of phytochemicals of Vitex trifolia to inhibit VEGFR2 for BC.

Therapeutic innovations: targeting ROS production in AML with natural and synthetic compounds.

Reactive oxygen species (ROS) play a dual role in the pathophysiology of acute myeloid leukemia (AML), functioning as both signaling molecules and agents of cellular damage. This review offers an in-depth analysis of ROS production in AML, highlighting their impact on essential cellular pathways that govern cell survival, proliferation, and apoptosis. It explores both natural and synthetic pharmacological agents that modulate ROS generation and enhance oxidative stress, assessing their therapeutic potential and the challenges they present in clinical practice.

Cutting edge: ferroptosis in metabolic dysfunction-associated steatotic liver disease (MASLD) pathogenesis and therapy.

Ferroptosis denotes a distinct form of controlled cell death marked by substantial iron buildup and significant lipid peroxidation, playing a crucial role in several disease processes linked to cell death. Given the liver's essential functions in iron and lipid metabolism and its vulnerability to oxidative damage, more research has investigated the correlation between ferroptosis and numerous hepatic diseases, including metabolic dysfunction-associated steatotic liver disease (MASLD), formerly known as non-alcoholic fatty liver disease (NAFLD). NAFLD has arisen as a worldwide public health concern due to elevated morbidity and high death rates.

Cell death-associated lncRNAs in cancer immunopathogenesis: An exploration of molecular mechanisms and signaling pathways.

Cancer remains one of the foremost causes of mortality worldwide, highlighting the urgent need for novel therapeutic targets due to the insufficient efficacy and adverse side effects associated with existing cancer treatments. Long non-coding RNAs (lncRNAs), defined as RNA transcripts longer than 200 nucleotides, have emerged as pivotal regulators in the initiation and progression of various malignancies. In oncology, programmed cell death (PCD) serves as the primary mechanism for tumor cell elimination, comprising processes such as apoptosis, pyroptosis, autophagy, and ferroptosis.

Adenosine A2AR in viral immune evasion and therapy: unveiling new avenues for treating COVID-19 and AIDS.

Adenosine is a neuro- and immunomodulator that functions via G protein-coupled cell surface receptors. Several microbes, including viruses, use the adenosine signaling pathway to escape from host defense systems. Since the recent research developments in its role in health and disease, adenosine and its signaling pathway have attracted attention for targeting to treat many diseases.

Molecular pathways in the development of HPV-induced oropharyngeal cancer.

Oropharyngeal cancer, a subset of head and neck cancer, is increasingly recognized as a unique clinical entity primarily influenced by high-risk human papillomavirus (HPV) infections, particularly HPV-16. This review delves into the viral life cycle of HPV-16 and its interactions with host cells, with a specific focus on the crucial roles played by the viral oncoproteins E6 and E7. These oncoproteins drive cellular proliferation by targeting critical tumor suppressor proteins like p53 and Rb, resulting in uncontrolled cell growth and genomic instability.

Identification and Functional Characterization of Mutation in in Families with Congenital Cataract.

Congenital cataract (CC) causes a third of the cases of treatable childhood blindness worldwide. CC is a disorder of the crystalline lens which is established as clinically divergent and has complex heterogeneity. This study aimed to determine the genetic basis of CC.

Oxidative stress affects the beginning of the growth of cancer cells through a variety of routes.

Oxidative stress is a physiological condition that occurs when there is an imbalance between the production of reactive oxygen species (ROS) and the cell's antioxidant defense system. ROS are highly reactive molecules that can cause damage to cellular structures such as DNA, proteins, and lipids. the regulation of ROS levels and the antioxidant defense system is crucial for cancer prevention and treatment.

The pathological role of C-X-C chemokine receptor type 4 (CXCR4) in colorectal cancer (CRC) progression; special focus on molecular mechanisms and possible therapeutics.

Colorectal cancer (CRC) is comprised of transformed cells and non-malignant cells including cancer-associated fibroblasts (CAF), endothelial vasculature cells, and tumor-infiltrating cells. These nonmalignant cells, as well as soluble factors (e.g.

Gold Nanoparticles Inhibit PMA-Induced MMP-9 Expression via microRNA-204-5p Upregulation and Deactivation of NF-κBp65 in Breast Cancer Cells.

Objective: Breast cancer (BC) is the most common malignancy in females globally. Matrix metalloproteinase-9 (MMP-9) is crucial to the invasion, progression and spread of BC. Gold nanoparticles (AuNPs) have an anti-tumorigenic role, but their therapeutic role in microRNAs (miRNAs) regulation has not been explored.

Functional role of circRNAs in osteogenesis: A review.

The extracellular matrixes (ECM), as well as the microenvironmental signals, play an essential role in osteogenesis by regulating intercellular pathways. Recently, it has been demonstrated that a newly identified RNA, circular RNA, contributes to the osteogenesis process. Circular RNA (circRNA), the most recently identified RNA, is involved in the regulation of gene expression at transcription to translation levels.

CDKN2B-AS1 as a novel therapeutic target in cancer: Mechanism and clinical perspective.

Long non-coding RNAs (lncRNA) have been identified as essential components having considerable modulatory impactson biological activities through altering gene transcription, epigenetic changes, and protein translation. Cyclin-dependent kinase inhibitor 2B antisense RNA 1 (CDKN2B-AS1), a recently discovered lncRNA, was shown to be substantially elevated in various cancers.Furthermore, via modulation ofvarious signalingaxes, it is effectively connected to the control of critical cancer-associatedbiological pathways likecell proliferation, apoptosis, cell cycle, epithelial-mesenchymal transition(EMT), invasion, and migration.

Biological Role of Zinc in Liver Cirrhosis: An Updated Review.

Liver cirrhosis is a complication usually due to the consequence of persistent chronic liver disease. It is associated with different mechanisms, including hypoalbuminemia, impaired amino acid turnover, and micronutrient deficiencies. Consequently, cirrhotic patients can develop progressive complications like ascites, hepatic encephalopathy, and hepatocellular carcinoma.

Estimation of serum iron, serum lipids and serum liver enzymes in celiac disease patients of Saudi Arabia.

Objectives: To evaluate the serum biochemical levels in celiac disease (CD) patients.

Methods: It was a cross-sectional study carried out on 70 subjects, including 40 patients with CD and 30 healthy controls. This study was conducted at Jouf University from November, 2020 to October, 2021.

Adenosine A receptor as a potential target for improving cancer immunotherapy.

The adenosine nucleoside performs a wide range of actions on various human tissues by activating four cell surface receptors. Adenosine A receptors (ARs) are widely expressed in the striatum, olfactory bulb, platelets, leukocytes, spleen, and thymus. They promote vasodilatation, platelet antiaggregatory effect, protection from ischemic damage, and regulation of sensorimotor neurons in basal ganglia.

Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.

Oculocutaneous albinism (OCA) is an autosomal recessive syndromic and non-syndromic defect with deficient or a complete lack of the melanin pigment. The characteristics of OCA appears in skin, hair, and eyes with variable degree of pigmentation. Clinical manifestations of OCA include nystagmus, photophobia, reduced visual acuity, hypo-plastic macula, and iris trans-illumination.

Delineating Novel and Known Pathogenic Variants in , and Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families.

Oculocutaneous albinism (OCA) is associated with a wide range of clinical presentations and has been categorized with syndromic and non-syndromic features. The most common causative genes in non-syndromic OCA are TYR and OCA2 and HSP1 is in the syndromic albinism. The objective of this study was to identify pathogenic variants in congenital OCA families from Pakistan.