A Homozygous c.74A>G Variant in PRKRA Causes DYT-PRKRA: Extensive Familial Segregation and a Variant of Uncertain Significance (VUS) Reclassification.

Background: DYT-PRKRA is a rare, autosomal recessive movement disorder caused by mutations in the PRKRA gene. While PRKRA mutations are recognized in DYT-PRKRA, a significant number of identified variants are still classified as "variant of uncertain significance" (VUS).

Objective: In this study we identified a causative variant previously reported as a VUS.

Subtype-specific expression of lncRNAs SNHG12 and HAGLR as non-invasive biomarkers for diagnosis and prognosis in breast cancer.

Background: Long non-coding RNAs (lncRNAs) SNHG12 and HAGLR have different molecular functions in breast cancer (BC). We investigated their expression profiles in different subtypes of BC, breast tissues, and plasma in association with clinicopathological and reproductive conditions.

Methods: The expression levels of SNHG12 and HAGLR were detected by qRT-PCR in 150 BC tumors including 35 triple-negative BC (TNBC), 30 HER2-enriched, 30 luminal B, and 55 luminal A and their corresponding tumor-adjacent apparently normal (TAN), as well as in truly normal (TN) tissues and plasma samples of 150 cancer-free women.

The promise of gene therapy in common types of dementia.

Dementia is an umbrella term describing different types of diseases that lead to cognitive impairment and memory dysfunction, predominantly affecting older adults. The most common forms include Alzheimer's disease (AD), vascular dementia (VaD), dementia with Lewy bodies (DLB), and frontotemporal dementia (FTD). Despite extensive research, there is no definitive cure for dementia, primarily due to its complex and multifactorial nature, particularly the role of genetic abnormalities.

Next-generation sequencing in cancer diagnosis and treatment: clinical applications and future directions.

Next-generation sequencing (NGS) has emerged as a pivotal technology in the field of oncology, transforming the approach to cancer diagnosis and treatment. This paper provides a comprehensive overview of the integration of NGS into clinical settings, emphasizing its significant contributions to precision medicine. NGS enables detailed genomic profiling of tumors, identifying genetic alterations that drive cancer progression and facilitating personalized treatment plans targeting specific mutations, thereby improving patient outcomes.

MicroRNA frontiers: Illuminating early detection paths in multiple sclerosis.

Multiple sclerosis (MS) manifests as progressive disability stemming from the demyelination of axons within the central nervous system, resulting in neuronal loss and atrophy in the brain and spinal cord. Diagnosis typically entails a thorough assessment of medical history, symptoms, physical examination, and various diagnostic procedures, including magnetic resonance imaging, cerebrospinal fluid analysis, blood tests, and electrophysiology. However, existing biomarkers often fail to reliably correlate with disease progression.

MicroRNAs regulating autophagy: opportunities in treating neurodegenerative diseases.

Neurodegenerative diseases (NDs) are increasingly prevalent in our aging population, imposing significant social and economic burdens. Currently, most ND patients receive only symptomatic treatment due to limited understanding of their underlying causes. Consequently, there is a pressing need for comprehensive research into the pathological mechanisms of NDs by both researchers and clinicians.

Global landscape of vancomycin-resistant enterococci in hematopoietic stem-cell transplantation patients: a systematic review and meta-analysis.

Background: One of the main risks of infection after hematopoietic stem cell transplantation (HSCT) is infection by gram-positive bacteria, including vancomycin-resistant enterococci (VRE). Based on the format of a global review and meta-analysis study, this study aims to investigate the incidence of VRE bloodstream infection (BSI) after HSCT in colonized individuals.

Methods: The keywords of the systematic search included vancomycin-resistant enterococci and HSCT.

Long Non-Coding RNA and as a Promising Diagnostic and Prognostic Biomarker in Glioblastoma Multiforme.

Background: Glioblastoma multiforme (GBM) is one of the most invasive types of brain cancer. LncRNAs can be considered a new prognostic and diagnostic biomarker in GBM. This study comprehensively explored the interaction of lncRNAs with mRNAs in the TCGA database and proposed a novel promising biomarker with favorable diagnostic and prognostic values.

Differential methylation of DNA promoter sequences in peripheral blood mononuclear cells as promising diagnostic biomarkers for colorectal cancer.

Objectives: Previous reports have indicated that the methylation profile in peripheral blood mononuclear cells (PBMCs) in different genes and loci is altered in colorectal cancer (CRC). Regarding the high mortality rate and silent nature of CRC, screening and early detection can meaningfully reduce disease-related deaths. Therefore, for the first time, we aimed to evaluate the early non-invasive diagnosis of CRC via quantitative promoter methylation analysis of RUNX3 and RASSF1A genes in PBMCs.

Effects of miR-330 restoration on pancreatic cancer cells oncogenesis.

Background: Inappropriate expressions of various miRNAs have reported in different human malignancies. Evidence suggested that miR-330 may play as both onco-miR and/or tumor suppressor-miR in different cancers. In the present study, we evaluated effects of miR-330 on proliferation and migration of pancreatic cancer (PC) cells as well as underlying molecular mechanisms.

Hypermethylation of Gene Promoter in Peripheral Blood Mononuclear Cells as a Noninvasive Biomarker for Colorectal Cancer Diagnosis.

Background: Early colorectal cancer (CRC) diagnosis can drastically reduce CRC-related morbidity and mortality. In this regard, increasing attention is now being directed to DNA-based tests, especially the evaluation of methylation levels, to prioritize high-risk suspected persons for colonoscopy examination. Therefore, we aimed to assess the accuracy of gene promoter methylation levels in peripheral blood mononuclear cells (PBMCs) for distinguishing CRC patients from healthy people.

Expression assay of the in a family with congenital myasthenic syndrome and symptomatic carriers.

Congenital myasthenic syndromes-5 (CMS5) is a rare autosomal recessive heterogeneous disorder, caused by pathogenic variants in the that lead to skeletal muscle weakness and abnormal fatigability. The onset is usually from birth to childhood. Disease-causing variants in the collagen-like tail subunit are the most explained etiology in synaptic CMS, causing defected acetylcholinesterase.

Advances in siRNA delivery approaches in cancer therapy: challenges and opportunities.

Advancements in the clinical applications of small interfering RNA (siRNA) in cancer therapy have opened up new possibilities for precision medicine. siRNAs, as powerful genetic tools, have shown potential in targeting and suppressing the expression of specific genes associated with cancer progression. Their effectiveness has been further enhanced by incorporating them into nanoparticles, which protect siRNAs from degradation and enable targeted delivery.

Knockdown of SIX4 inhibits pancreatic cancer cells via apoptosis induction.

Sine oculis homeobox 4 (SIX4), a critical transcription factor modulating organ development, potentially participates in tumorigenesis through numerous pathways. Here, we investigated siRNA-mediated knockdown effects of SIX4 on pancreatic cancer cells and underlying molecular mechanisms. The expression of SIX4 in pancreatic cancer and adjacent tissues were investigated in clinical tissue samples and bioinformatically approved by gene expression omnibus (GEO) database.

Methylation in Peripheral Blood Cells as a Biomarker for Diagnosis of Colorectal Cancer.

Background: Several case-control studies have suggested that global and loci-specific deoxyribonucleic acid (DNA) methylation in peripheral blood mononuclear cells (PBMCs) of DNA might be potential biomarkers of cancer diagnosis and prognosis. In this study, for the first time, we intended to assess the diagnostic power of the methylation level of tumor suppressor candidate 3 () gene promoter in patients with colorectal cancer (CRC).

Materials And Methods: In the current study, we quantitatively assessed the promoter methylation level of in PBMCs of 70 CRC cases and 75 non-cancerous subjects via methylation quantification of endonuclease-resistant DNA (MethyQESD) method.

Significant hypomethylation of gene promoter in patients with systemic lupus erythematosus.

Objective: Scholars are exploring novel diagnostic and prognostic biomarkers with higher sensitivity and specificity for systemic lupus erythematosus (SLE). In this regard, DNA methylation alterations have aroused attention. The association between the dysfunction of and genes and SLE has been previously demonstrated.

Oleanolic acid increases the anticancer potency of doxorubicin in pancreatic cancer cells.

Combination therapy is a novel cancer therapy approach that combines two or more chemotherapy drugs. This treatment modality enhances the efficacy of chemotherapy by targeting key pathways in an additive or synergistic manner. Therefore, we investigated the efficacy of combination therapy by widely used chemotherapy drug doxorubicin (DOX) and oleanolic acid (OA) to induction of apoptosis for pancreatic cancer (PC) therapy.

The obesity associated FTO gene polymorphism and the risk of preeclampsia in Iranian women: A case-control study.

Background: Preeclampsia (PE) is one of the leading disorders in pregnant women with maternal and fetal complications. Obesity is considered an important risk factor for the development of PE. Genetic variations in fat mass and obesity associated (FTO) gene may play a role in the development of PE.

Importance of STAT3 Polymorphisms on the Risk and Clinical Characteristics of Rheumatoid Arthritis.

Signal transducer and activator of transcription 3 (STAT3) has been introduced as one of the critical genetic factors in the pathogenesis of rheumatoid arthritis (RA). Single nucleotide polymorphisms (SNPs) in microRNA binding sites, known as miRSNPs, are a class of common variants in the 3' untranslated regions of genes targeted by miRNAs. miRSNPs unbalance gene expression by disrupting the binding regions of microRNAs.

Chimeric antigen receptor T (CAR-T) cells: Novel cell therapy for hematological malignancies.

Over the last decade, the emergence of several novel therapeutic approaches has changed the therapeutic perspective of human malignancies. Adoptive immunotherapy through chimeric antigen receptor T cell (CAR-T), which includes the engineering of T cells to recognize tumor-specific membrane antigens and, as a result, death of cancer cells, has created various clinical benefits for the treatment of several human malignancies. In particular, CAR-T-cell-based immunotherapy is known as a critical approach for the treatment of patients with hematological malignancies such as acute lymphoblastic leukemia (ALL), multiple myeloma (MM), chronic lymphocytic leukemia (CLL), acute myeloid leukemia (AML), Hodgkin lymphoma (HL), and non-Hodgkin's lymphoma (NHL).

DNA methylation alterations in systemic lupus erythematosus: A systematic review of case-control studies.

Background: Traditionally, the diagnosis and monitoring of disease activity in systemic lupus erythematosus (SLE) are contingent upon clinical manifestations and serological markers. However, researchers are struggling to find biomarkers with higher sensitivity and specificity. DNA methylation has been the most studied epigenetic feature in SLE.

Anti-proliferation effects of Apatinib in combination with Curcumin in breast cancer cells.

Objectives: Despite remarkable development of new therapeutic strategies to improve survival rates and treatment of patients with cancer, there are still many limitations in management of patients with distant metastasis breast cancer. Therefore, the aim of this study was to investigate a novel method to enhance therapeutic efficacy of Apatinib (as a chemotherapeutic agent) by co-administration of Curcumin (as a bioactive herbal compound) in breast cancer treatment.

Methods: Effects of Apatinib, Curcumin, and their combinations (Apa-Cur) was evaluated on viability and proliferation of breast cell line (MCF7) by MTT assay.