The known structural variations in hearing loss and their diagnostic approaches: a comprehensive review.

Hearing loss (HL) is the most common sensory disorder, characterized by a wide range of causes, including both environmental and genetic factors. While single-nucleotide variants (SNVs) and small insertions/deletions have been extensively studied, the role of structural variations (SVs) in hearing impairment has gained increasing recognition. This review article aims to provide a comprehensive overview of the importance of SVs in HL, by exploring the SVs associated with HL and their underlying pathogenic mechanisms.

Identification of RN7SK LncRNA as a novel biomarker in Alzheimer's disease using bioinformatics and expression analysis.

Alzheimer's disease (AD) is a degenerative illness that accounts for the common type of dementia among adults over the age of 65. Despite extensive studies on the pathogenesis of the disease, early diagnosis of AD is still debatable. In this research, we performed bioinformatics approaches on the AD-related E-MTAB 6094 dataset to uncover new potential biomarkers for AD diagnosis.

Blood-based microRNAs as the potential biomarkers for Alzheimer's disease: evidence from a systematic review.

Alzheimer's disease (AD) is a neurodegenerative disorder that progresses over time and is identified by the development of neurofibrillary tangles and amyloid deposits in the brain. Mounting evidence has revealed that microRNAs (miRNAs) are significantly involved in AD progression, and may be used as promising biomarkers for diagnosis and prognosis. Nevertheless, the existing body of data regarding dysregulated circulating miRNAs in AD and their therapeutic applications are characterized by a lack of consistency.

An overview on the interaction between non-coding RNAs and CTLA-4 gene in human diseases.

Cytotoxic T lymphocyte antigen 4 (CTLA-4), in conjunction with PD-1 and CD28, plays a pivotal role in the modulation of T-cell activation. Specifically, CTLA-4 exerts its influence by impeding the generation of IL-2 and the proliferation of T cells. CTLA-4, being a receptor with a high affinity, engages in competitive binding with CD28 for the interaction with primary T-cell activator molecules, specifically CD80 and CD86.

The role of mir-7-5p in cancer: function, prognosis, diagnosis, and therapeutic implications.

One of the important and conserved microRNAs (miRNAs), miR-7-5p, is involved in several pathological mechanisms, including cell proliferation, apoptosis, migration, and metastasis. Dysregulation of this miRNA's expression is correlated with multiple diseases, especially cancer. Its role as a tumor suppressor has been demonstrated in various types of cancer, such as colorectal cancer, lung cancer, bladder cancer, breast cancer, and glioblastoma.

The Role of Non-Coding RNAs in Mitochondrial Dysfunction of Alzheimer's Disease.

Although brain amyloid-β (Aβ) peptide buildup is the main cause of Alzheimer's disease (AD), mitochondrial abnormalities can also contribute to the illness's development, as either a primary or secondary factor, as programmed cell death and efficient energy generation depend on the proper operation of mitochondria. As a result, non-coding RNAs (ncRNAs) may play a crucial role in ensuring that nuclear genes related to mitochondria and mitochondrial genes function normally. Interestingly, a significant number of recent studies have focused on the impact of ncRNAs on the expression of nucleus and mitochondrial genes.

A Novel Pathogenic Mutation in WNK1 Gene Causing HSAN Type II in Three Siblings.

Hereditary sensory and autonomic neuropathy (HSAN) is a rare genetic disorder that primarily affects the peripheral nervous system, leading to a progressive loss of the ability to perceive pain, temperature, and touch. This condition can result in severe complications, including injuries and infections due to the inability to feel pain. HSAN is classified into nine types, with types I and VII exhibiting autosomal dominant inheritance, while the others follow an autosomal recessive pattern.

miR-449a: A Promising Biomarker and Therapeutic Target in Cancer and Other Diseases.

In the regulation of gene expression, epigenetic factors like non-coding RNAs (ncRNAs) play an equal role in genetics. The role of microRNAs (miRNAs), which are members of the ncRNA family, in post-transcriptional gene regulation is well-documented and has important implications for both normal and abnormal biological processes, such as angiogenesis, proliferation, survival, and apoptosis. The purpose of this study was to synthesize previous research on miR-449a by analyzing published results from various databases, as there have been a number of investigations on miR-449's potential involvement in the development of human disorders.

Over-expression of mir-181a-3p in serum of breast cancer patients as diagnostic biomarker.

Background: Recently, the significance of epigenetics, particularly in breast cancer (BC), has become increasingly recognized. MicroRNAs (miRNAs), as an epigenetic factor, are offering valuable insights into various aspects of BC, such as its origins and clinical features. Therefore, studying the disruption of specific miRNAs through microarray and RNA-seq techniques is considered useful.

The role of mir-151a-5p in tumorigenesis; A systematic review.

Background: Highly supported microRNAs (miRNAs) are key players in cancer development. Each of these miRNAs may act as an oncomir, a tumor-suppressor, or both in various cancers. Mir-151a-5p is believed to be one of these miRNAs with diverse roles.

WITHDRAWN: In silico and Experimental Analysis of miR-125b-5 and miR-485-5p Expression in Serum of Patients with Breast Cancer.

Unlabelled: Since the authors are not responding to the editor’s requests to fulfill the editorial requirement, therefore, the article has been withdrawn. Bentham Science apologizes to the readers of the journal for any inconvenience this may have caused. The Bentham Editorial Policy on Article Withdrawal can be found at https://benthamscience.

A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss: in silico analysis of a case.

Background: Hereditary hearing loss (HHL) is a common heterogeneous disorder affecting all ages, ethnicities, and genders. The most common form of HHL is autosomal recessive non-syndromic hearing loss (ARNSHL), in which there is no genotype-phenotype correlation in the majority of cases. This study aimed to identify the genetic causes of hearing loss (HL) in a family with Iranian Azeri Turkish ethnicity negative for gap junction beta-2 (GJB2), gap junction beta-6 (GJB6), and mitochondrially encoded 12S rRNA (MT-RNR1) deleterious mutations.

The worldwide frequency of MYO15A gene mutations in patients with non-syndromic hearing loss: A meta-analysis.

is the third most crucial gene in hereditary sensorineural hearing loss after and . In the present study, we reviewed the prevalence of mutations in patients with autosomal recessive non-syndromic hearing loss (ARNSHL). In this meta-analysis, we conducted a search of PubMed, Web of Science, Excerpta Medica Database, and Scopus, and identified the articles up to September 2019 without any time limit.

Differential Expression Pattern of Epithelial Mesenchymal Transition Gens: AXL, GAS6, Claudin-1, and Cofilin-1, in Different Stages of Epithelial Ovarian Cancer.

Background: Epithelial ovarian cancer (EOC), is the fatal form of gynecological cancer. Almost 70% of ovarian cancer patients are detected at an advanced stage (III-IV) with metastases. Epithelial-mesenchymal transition (EMT) is a critical process associated with metastasis.

The hopeful anticancer role of oleuropein in breast cancer through histone deacetylase modulation.

Breast cancer (BC) is one of the most common cancers among women worldwide. Genetic, epigenetic, and environmental factors play a crucial role in BC development. Because epigenetic imbalance occurs earlier than expression in carcinogenesis and is reversible, epigenetic reprogramming strategies could be more useful for cancer prevention and therapy.

A new insight on serum microRNA expression as novel biomarkers in breast cancer patients.

Breast cancer (BC) is one of the widespread lethal diseases affecting a large number of women worldwide. As such, employing and identifying significant markers for detecting BC in different stages can assist in better diagnosis and management of the disease. Several diverse markers have been introduced for diagnosis, but their limitations, including low specificity and sensitivity, reduce their application.

Downregulation of HDAC2 and HDAC3 via oleuropein as a potent prevention and therapeutic agent in MCF-7 breast cancer cells.

Breast cancer is the most common malignancy in the world with the highest rate of morbidity and mortality. Due to the several side effects of chemotherapy and radiotherapy, recent studies have focused on the use of herbal medicines. Epidemiological reports have shown the inverse relationship between breast cancer risk and intake of olive.

Targeted Mutation Analysis of the SLC26A4, MYO6, PJVK and CDH23 Genes in Iranian Patients with AR Nonsyndromic Hearing Loss.

Background: Hearing loss (HL) is the most prevalent sensory disorder. The over 100 genes implicated in autosomal recessive nonsyndromic hearing loss (ARNSHL) makes it difficult to analyze and determine the accurate genetic causes of hearing loss. We sought to de?ne the frequency of seven hearing loss-Causing causing genetic Variants in four genes in an Iranian population with hearing loss.

Narrower insight to SIRT1 role in cancer: A potential therapeutic target to control epithelial-mesenchymal transition in cancer cells.

The epithelial-mesenchymal transition (EMT) is a highly networked cellular process which involves cell transition from the immotile epithelial to the motile mesenchymal phenotype, whereby cells lose their cell-cell adhesion and cell polarity. This important process is one of the underlying mechanisms for enabling invasion and metastasis of cancer cells which is considered as malignant phase of tumor progression. However, the molecular mechanisms of this process are not fully clarified.

HDACis (class I), cancer stem cell, and phytochemicals: Cancer therapy and prevention implications.

Epigenetics is independent of the sequence events that physically affect the condensing of chromatin and genes expression. The unique epigenetic memories of various cells trigger exclusive gene expression profiling. According to different studies, the aberrant epigenetic signatures and impaired gene expression profiles are master occurrences in cancer cells in which oncogene and tumor suppressor genes are affected.

Restoration of correct splicing in IVSI-110 mutation of β-globin gene with antisense oligonucleotides: implications and applications in functional assay development.

Objectives: The use of antisense oligonucleotides (AOs) to restore normal splicing by blocking the recognition of aberrant splice sites by the spliceosome represents an innovative means of potentially controlling certain inherited disorders affected by aberrant splicing. Selection of the appropriate target site is essential in the success of an AO therapy. In this study, in search for a splice model system to facilitate the evaluation of AOs to redirect defective splicing of IVSI-110 β-globin intron, an EGFP-based IVSI-110 specific cellular reporter assay system has been developed and a number of AOs were tested in this cellular splicing assay.

An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.

Autosomal-recessive genes are responsible for about 80% of the hereditary non-syndromic hearing loss (NSHL) cases. In Iran, due to consanguineous marriages, NSHL is the second most frequent disability after intellectual disability, occurring one in 16 individuals. Enormous heterogeneity in the genetic pathology of hearing loss causes a major challenge in identification of responsible genes.

Molecular analysis of glycogen storage disease type Ia in Iranian Azeri Turks: identification of a novel mutation.

Glycogen storage diseases (GSDs) are caused by abnormalities in enzymes that are involved in the regulation of gluconeogenesis and glycogenolysis. GSD I, an autosomal recessive metabolic disorder, is the most common GSD and has four subtypes. Here, we examined GSD Ia caused by the defective glucose-6-phosphatase catalytic (G6PC) gene.

Genotyping of Intron Inversions and Point Mutations in Exon 14 of the FVIII Gene in Iranian Azeri Turkish Families with Hemophilia A.

Hemophilia A (HA) is an inherited X-linked bleeding disorder caused by a variety of mutations that are distributed throughout the large gene (F8). The most common mutations in studied populations with severe HA are introns 22 and 1 inversions, gross exon deletions and point mutations in exon 14. The aim of this study was to define the frequency of these common mutations in Iranian population of Azeri Turkish in North West of Iran.