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Biomedical subjects

Sirous Naeimi

Publications and source records attributed to Sirous Naeimi.

2 recordsLinked to original sources
PubMed2026

Comprehensive bioinformatics analysis identifies candidate ciliogenesis-related genes preferentially associated with N0-stage lung squamous cell carcinoma.

PURPOSE: There is few research on which genes play an important role in tumors without lymph metastasis. This study aimed to identify candidate molecular alterations preferentially associated with N0-stage LUSC. METHODS: we conducted a comprehensive bioinformatics analysis using publicly available The Cancer Genome Atlas (TCGA) data. Differentially expressed genes (DEGs) were identified separately by comparing N0 tumors and N+ tumors with normal lung tissues. Genes dysregulated in both N0 and N+ tumors were excluded to identify candidate N0-associated genes PPI networks were constructed using STRING and Cytoscape, with module analysis performed via MCODE. Hub genes were identified using multiple Cytohubba algorithms. Functional enrichment analyses were conducted using GO, and KEGG pathways using DAVID. Gene interaction networks were further explored using GeneMANIA. Immune cell infiltration was evaluated with TIMER. Associations with pathological stage and patient survival were assessed using GEPIA and other relevant tools. RESULTS: A total of 1103 candidate N0-associated DEGs were identified, including 748 upregulated and 355 downregulated genes. The PPI network contained five major MCODE clusters. One cluster (MCODE 4) included TTC30A, TTC30B, BBS7, and KIF3B genes implicated in ciliogenesis. TTC30B showed significant differential expression across pathological stages in the overall LUSC cohort. Seven consensus hub genes (ERBB2, CHUK, CASP8, NOTCH1, HNF4A, CREBBP, and IRS1) were identified based on their consistent ranking across multiple CytoHubba algorithms. Upregulated candidate N0-associated genes were primarily enriched in immune-related processes, including B-cell-mediated immunity and humoral responses, whereas downregulated genes were enriched in lysosomal and trans-Golgi network-related pathways. Exploratory immune infiltration analyses identified associations between the four ciliogenesis-related genes and several immune cell populations. CONCLUSIONS: This study identified candidate molecular signatures preferentially associated with N0-stage LUSC, including ciliogenesis-related genes and consensus hub genes. These findings provide hypotheses regarding molecular features of N0-stage LUSC and warrant further validation in independent cohorts and experimental studies.

Humans↗
PubMed2024

Genetic evidence for predisposition to acute leukemias due to a missense mutation (p.Ser518Arg) in ZAP70 kinase: a case-control study.

BACKGROUND: The apparent lack of additional missense mutations data on mixed-phenotype leukemia is noteworthy. Single amino acid substitution by these non-synonymous single nucleotide variations can be related to many pathological conditions and may influence susceptibility to disease. This case-control study aimed to unravel whether the ZAP70 missense variant (rs104893674 (C > A)) underpinning mixed-phenotype leukemia. METHODS: The rs104893674 was genotyped in clients who were mixed-phenotype acute leukemia-, acute lymphoblastic leukemia- and acute myeloid leukemia-positive and matched healthy controls, which have been referred to all major urban hospitals from multiple provinces of country- wide, IRAN, from February 11' 2019 to June 10' 2023, by amplification refractory mutation system-polymerase chain reaction method. Direct sequencing for rs104893674 of the ZAP70 gene was performed in a 3130 Genetic Analyzer. RESULTS: We found that the AC genotype of individuals with A allele at this polymorphic site (heterozygous variant-type) contribute to the genetic susceptibility to acute leukemia of both forms, acute myeloid leukemia and acute lymphoblastic leukemia as well as with a mixed phenotype. In other words, the ZAP70 missense variant (rs104893674 (C > A)) increases susceptibility of distinct cell populations of different (myeloid and lymphoid) lineages to exhibiting cancer phenotype. The results were all consistent with genotype data obtained using a direct DNA sequencing technique. CONCLUSION: Of special interest are pathogenic missense mutations, since they generate variants that cause specific molecular phenotypes through protein destabilization. Overall, we discovered that the rs104893674 (C > A) variant chance in causing mixed-phenotype leukemia is relatively high.

Humans↗