Papers by golnaz ensieh kazemi sefat
Clinical significance of CD166 and HER-2 in different types of gastric cancer
Clinical and Translational Oncology
Scientific Reports
Chronic myeloid leukemia (CML) is a model of leukemogenesis in which the exact molecular mechanis... more Chronic myeloid leukemia (CML) is a model of leukemogenesis in which the exact molecular mechanisms underlying blast crisis still remained unexplored. The current study identified multiple common and rare important findings in myeloid blast crisis CML (MBC-CML) using integrated genomic sequencing, covering all classes of genes implicated in the leukemogenesis model. Integrated genomic sequencing via Whole Exome Sequencing (WES), Chromosome-seq and RNA-sequencing were conducted on the peripheral blood samples of three CML patients in the myeloid blast crisis. An in-house filtering pipeline was applied to assess important variants in cancer-related genes. Standard variant interpretation guidelines were used for the interpretation of potentially important findings (PIFs) and potentially actionable findings (PAFs). Single nucleotide variation (SNV) and small InDel analysis by WES detected sixteen PIFs affecting all five known classes of leukemogenic genes in myeloid malignancies includi...
Overexpression of cytoplasmic dynamin 2 is associated with worse outcomes in patients with clear cell renal cell carcinoma
Cancer Biomarkers
BACKGROUND: Dynamin 2 (DNM2) involved in tumor progression in various malignancies. OBJECTIVE: Fo... more BACKGROUND: Dynamin 2 (DNM2) involved in tumor progression in various malignancies. OBJECTIVE: For the first time, we evaluated DNM2 expression pattern, its association with clinicopathological characteristics and survival outcomes in RCC subtypes. METHODS: We evaluated the DNM2 expression pattern in RCC tissues as well as adjacent normal tissue using immunohistochemistry on tissue microarray (TMA) slides. RESULTS: Our findings revealed increased DNM2 expression in RCC samples rather than in adjacent normal tissues. The results indicated that there was a statistically significant difference between cytoplasmic expression of DNM2 among subtypes of RCC in terms of intensity of staining, percentage of positive tumor cells, and H-score (P= 0.024, 0.049, and 0.009, respectively). The analysis revealed that increased cytoplasmic expression of DNM2 in ccRCC is associated with worse OS (log rank: P= 0.045), DSS (P= 0.049), and PFS (P= 0.041). Furthermore, cytoplasmic expression of DNM2 was ...
Additional file 1 of The importance of CDC27 in cancer: molecular pathology and clinical aspects
Additional file 1: Table S1. Protein sequence in exons and TPR motifs of CDC27. CDC27 has 19 exon... more Additional file 1: Table S1. Protein sequence in exons and TPR motifs of CDC27. CDC27 has 19 exons with 14 TPR motifs which are located in two TPR domains. Aminoacid numbers are according to the longest isoform with 830 aminoacids. Six yellow highlighted aminoacids in brackets (at the junction of exon 8 and exon 9) are the difference between the main CDC27 isoform with 824 aminoacids and the second important functional CDC27 isoform with 830 aminoacids. Different exons are colored alternately blue and black. Red colored aminoacids at exon junctions are coded by a codon which has nucleotides on both exons. Purple highlighted aminoacids are common phosphorylation sites in the CDC27 protein which all of them are located between two TPR domains. The structure of the APC3 is consisted of 14 units of the TPR motif, which are organised as follows: dimerization domain (TPR 1 to TPR 7), IR tail binding domain (TPR 8 to TPR 11), and C-terminal domain (TPR 12 to TPR 14).
Additional file 2 of The importance of CDC27 in cancer: molecular pathology and clinical aspects
Additional file 2: Figure S1. The frequency of potentially somatic and germline variants at exons... more Additional file 2: Figure S1. The frequency of potentially somatic and germline variants at exons and introns in CDC27 gene. The frequency is calculated as the number of variants per 100 bases in each exon or intron (Number of variants is divided to the exon or intron length and then multiplied by 100). About 588 CDC27 variants were listed in COSMIC (554 variants on exons). This means that potentially somatic cancer variants may compose more than 25% of detected variants on CDC27 exons.
Cell Journal (Yakhteh), 2016
Objective The phenylalanine hydroxylase (PAH) locus has high linkage disequilibrium. Haplotypes r... more Objective The phenylalanine hydroxylase (PAH) locus has high linkage disequilibrium. Haplotypes related to this locus may thus be considered sufficiently informative for genetic diagnosis and carrier screening using multi-allelic markers. In this study, we present an efficient method for haplotype analysis of PAH locus using multiplexing dyes. In addition, we explain how to resolve the dye shift challenge in multiplex short tandem repeat (STR) genotyping. Materials and Methods One hundred family trios were included in this descriptive study. The forward primer of a tetra-nucleotide STR and the reverse primer of a variable number tandem repeat (VNTR) were labeled with three different non-overlapping dyes 5-carboxyfluorescein (FAM), 6-carboxy-N,N,N’,N’-tetramethylrhodamine (HEX) and 6-carboxy-N,N,N’,N’-tetramethylrhodamine (TAMRA). The polymerase chain reaction (PCR) products from each family trio were multiplexed for capillary electrophoresis and results were analyzed using Peak Scan...
Genetic study of the PAH locus in the Iranian population: familial gene mutations and minihaplotypes
Metabolic Brain Disease, 2017
Phenylketonuria (PKU), one of the most common inborn errors of amino acid metabolism, is caused b... more Phenylketonuria (PKU), one of the most common inborn errors of amino acid metabolism, is caused by mutations in the phenylalanine hydroxylase (PAH) gene (PAH). PKU has wide allelic heterogeneity, and over 600 different disease-causing mutations in PAH have been detected to date. Up to now, there have been no reports on the minihaplotype (VNTR/STR) analysis of PAH locus in the Iranian population. The aims of the present study were to determine PAH mutations and minihaplotypes in Iranian families with PAH deficiency and to investigate the correlation between them. A total of 81 Iranian families with PAH deficiency were examined using PCR-sequencing of all 13 PAH exons and their flanking intron regions to identify sequence variations. Fragment analysis of the PAH minihaplotypes was performed by capillary electrophoresis for 59 families. In our study, 33 different mutations were found accounting for 95% of the total mutant alleles. The majority of these mutations (72%) were distributed across exons 7, 11, 2 and their flanking intronic regions. Mutation c.1066-11G > A was the most common with a frequency of 20.37%. The less frequent mutations, p.Arg261Gln (8%), p.Arg243Ter (7.4%), p.Leu48Ser (7.4%), p.Lys363Asnfs*37 (6.79%), c.969 + 5G > A (6.17%), p.Pro281Leu (5.56), c.168 + 5G > C (5.56), and p.Arg261Ter (4.94) together comprised about 52% of all mutant alleles. In this study, a total of seventeen PAH gene minihaplotypes were detected, six of which associated exclusively with particular mutations. Our findings indicate a broad PAH mutation spectrum in the Iranian population, which is consistent with previous studies reporting a wide range of PAH mutations, most likely due to ethnic heterogeneity. High prevalence of c.1066-11G > A mutation linked to minihaplotype 7/250 among both Iranian and Mediterranean populations is indicative of historical and geographical links between them. Also, strong association between particular mutations and minihaplotypes could be useful for prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD) in affected families.
Classic Phenylketonuria and Changes in Immune Responses: A Systematic Review
Molecular Reproduction and Development, 2015
Vitamin D exerts important roles during pregnancy, and its deficiency may be associated with seve... more Vitamin D exerts important roles during pregnancy, and its deficiency may be associated with several pregnancy complications, including pregnancy loss, yet no data are available for molecules involved in vitamin D metabolism in patients with unexplained recurrent spontaneous abortion. In this study, we investigated possible difference in endometrial expression of vitamin D3 receptor (VDR), 1a-hydroxylase (CYP27B1), and 24-hydroxylase (CYP24A1) in women with recurrent spontaneous abortion (n ¼ 8) and healthy controls (n ¼ 8). Gene expression of VDR, CYP27B1, and CYP24A1 was determined by real-time PCR, while VDR and CYP27B1 proteins were localized by immunohistochemistry and their abundance was validated by Western blot. We found that both patient and control groups expressed comparable levels of endometrial VDR, CYP27B1, and CYP24A1 transcripts. In line with the gene-expression results, CYP27B1 and different isoforms of VDR protein were present at the same abundance in the endometria of both groups. No significant alteration in VDR and CYP27B1 immunoreactivity pattern was found in the endometrium of patients compared to fertile controls, however. The results of the present study, therefore, do not support the hypothesis of differential expression of key molecules involved in vitamin D3 metabolism in the endometrium of recurrent spontaneous abortion patients and fertile controls.
Toll-like receptor (TLR)-4 and Hepatitis C Virus (HCV): a systematic review
Frontiers in Immunology, 2013
Journal of reproduction & infertility, 2009
The cells expressing Indoleamine 2, 3-dioxygenase (IDO) in feto-maternal interface mediate trypto... more The cells expressing Indoleamine 2, 3-dioxygenase (IDO) in feto-maternal interface mediate tryptophan catabolism, hence protect allogeneic fetus from lethal rejection by maternal immune responses. In this study, we report immuno-localization of IDO(+) cells in murine reproductive tract and placenta throughout mouse pregnancy by immunohistochemistry. Syngeneic pregnant mice were examined for vaginal plug to discover about their state of pregnancy. A total of three pregnant mice were examined at each stage.The examination was further confirmed by the detection of sperm in vaginal smear. On the gestational days of 2(nd), 12(th) and 18(th), the uterus and oviduct were removed and expression of IDO was investigated in the endometrium, placenta and oviduct by immunohistochemistry. Our results showed that IDO is expressed consistently in feto-maternal interface throughout pregnancy. In endometrium, expression of IDO was predominantly confined to luminal and glandular epithelial cells. Cell...
Fertility and Sterility, 2011
Objective: To investigate immunomodulatory effect of 1,25(OH)2 vitamin D3 (1,25(OH)2D3) on cytoki... more Objective: To investigate immunomodulatory effect of 1,25(OH)2 vitamin D3 (1,25(OH)2D3) on cytokine production by endometrial cells of women with unexplained recurrent spontaneous abortion (URSA). Design: In vitro study. Setting: Academic research center. Patient(s): Patients with URSA and healthy controls. Intervention(s): Treatment with 1,25(OH)2D3. Main Outcome Measure(s): Production of interferon g (IFN-g), interleukin-10 (IL-10), transforming growth factor b (TGF-b), IL-17, IL-6, and IL-8 by whole endometrial cells (WECs) and endometrial stromal cells in the presence and absence of 1,25(OH)2D3 and 1a-hydroxylase activity of these cell populations were measured in patients with URSA and healthy controls. Result(s): 1,25(OH)2D3 interfered with production of cytokines by WECs of the control and URSA groups, except IL-8 which was increased in URSA group. In endometrial stromal cells, 1,25(OH)2D3 down-regulated cytokine production as well with stimulatory effect on the production of TGF-b in patients with URSA. Cytokine profile of WECs from patients with URSA skewed toward TH2 phenotype after treatment with 1,25(OH)2D3. Endometrial cells of both groups had comparable capacity to produce 1,25(OH)2D3. Conclusion(s): Considering the complex network of immunoregulation at the fetomaternal interface, potential beneficial effects of vitamin D3 in patients with URSA need to be investigated in clinical practice. Comparable levels of 1,25(OH)2D3 production and similar trend of cytokine expression by WECs of URSA and control groups after vitamin D3 treatment reflect the same local metabolic machinery of this hormone. (Fertil Steril Ò 2011;96: 751-7. Ó2011 by American Society for Reproductive Medicine.
American Journal of Reproductive Immunology, 2010
Citation Moravej A, Jeddi‐Tehrani M, Salek‐Moghaddam AR, Dokouhaki P, Ghods R, Rabbani H, Kazemi‐... more Citation Moravej A, Jeddi‐Tehrani M, Salek‐Moghaddam AR, Dokouhaki P, Ghods R, Rabbani H, Kazemi‐Sefat GE, Shahbazi M, Zarnani AH. Evaluation of thyroglobulin expression in murine reproductive organs during pregnancy. Am J Reprod Immunol 2010; 64: 97–103Problem In pregnant women with antithyroglobulin antibody, prevalence of abortion is 2–4 fold higher compared to normal controls. Direct effect of such harmful autoantibodies on female reproductive organs may serve a role in pregnancy loss.Method of study Expression of thyroglobulin in decidua, placenta, and ovary of pregnant Balb/c mice ((Balb/c×Balb/c and Balb/c×C57BL/6) during early, middle, and late stages of pregnancy was evaluated. Expression of thyroglobulin was investigated in these tissues by semi‐quantitative RT‐PCR. In addition, polyclonal antithyroglobulin antibody was produced, and expression of thyroglobulin protein in aforesaid tissues was evaluated by immunohistochemistry and dot‐blot analysis.Results The results s...
Cancer Cell International, 2021
BackgroundCDC27 is one of the core components of Anaphase Promoting complex/cyclosome. The main r... more BackgroundCDC27 is one of the core components of Anaphase Promoting complex/cyclosome. The main role of this protein is defined at cellular division to control cell cycle transitions. Here we review the molecular aspects that may affect CDC27 regulation from cell cycle and mitosis to cancer pathogenesis and prognosis.Main textIt has been suggested that CDC27 may play either like a tumor suppressor gene or oncogene in different neoplasms. Divergent variations inCDC27DNA sequence and alterations in transcription ofCDC27have been detected in different solid tumors and hematological malignancies. ElevatedCDC27expression level may increase cell proliferation, invasiveness and metastasis in some malignancies. It has been proposed thatCDC27upregulation may increase stemness in cancer stem cells. On the other hand, downregulation ofCDC27may increase the cancer cell survival, decrease radiosensitivity and increase chemoresistancy. In addition,CDC27downregulation may stimulate efferocytosis a...
Uploads
Papers by golnaz ensieh kazemi sefat