Medicinal sciences
Nahid Rezaie; Teymoor Khosravi; Akram Vahidi; Morteza Oladnabi
Abstract
Neurofibromatosis type 2 (NF2) is an autosomal dominant genetic condition that causes tumorigenicity of bilateral vestibular schwannomas. microRNAs (miRNA) are 22-25 nucleotides single-stranded class of non-coding RNAs that play an essential role in mRNA regulation, mostly negatively, in many human diseases, ...
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Neurofibromatosis type 2 (NF2) is an autosomal dominant genetic condition that causes tumorigenicity of bilateral vestibular schwannomas. microRNAs (miRNA) are 22-25 nucleotides single-stranded class of non-coding RNAs that play an essential role in mRNA regulation, mostly negatively, in many human diseases, like cancer. They are able to augment tumorigenicity (as oncomirs) or suppress the process (as tsmiRNAs). Recent studies have elucidated their multifaceted role in transcriptomics of signaling pathways that lead to establishment, development, and invasiveness of tumors. Dysregulated expression level of miRNAs has been reported in various malignancies, as well. In the present review, we aimed to summarize the role of miRNAs in NF2 tumor homing and progression and address their potential in the patients diagnosis, management, and treatment.
Biological sciences
Saeed Dorgaleleh; Karim Naghipoor; Teymoor Khosravi; Amin Tadayoni Nia; Elham Sheikhi Ghayur; Hamayon abdul Aziz; Morteza Oladnabi
Abstract
Mutations in Ataxia-Telangiectasia Mutated (ATM) gene are prominently responsible for the condition. ATM gene encodes a serine/threonine protein kinase, a crucial component in DNA repair systems. Whole exome sequencing was performed on a nine year old male subject with clinical features of A-T. Alpha ...
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Mutations in Ataxia-Telangiectasia Mutated (ATM) gene are prominently responsible for the condition. ATM gene encodes a serine/threonine protein kinase, a crucial component in DNA repair systems. Whole exome sequencing was performed on a nine year old male subject with clinical features of A-T. Alpha fetoprotein and immunoglobulins levels in the serum sample were also measured by biochemical testing. Sequencing test revealed c.7456C>T (p.Arg2486X) mutation in exon 50 of ATM gene in this patient. This mutation was previously described as a missense pathogenic variant that could lead to truncation or lack of protein.
