Zafer Cetin

SANKO University Faculty of Medicine · Department of Medical Biology

Objectives: The objectives of this study were a) to investigate the effect of targeting the PANoptosome with 3,4-methylenedioxy-β-nitrostyrene (MNS) on PANoptosis in the Renal ischemia-reperfussion (RIR) model b) to investigate the kidney protective effect of MNS toward RIR injury. Methods: Thirty-two rats were divided into four groups randomly. Th...

In present study, biochemical compositions (ash, lipid and protein) of five different macroalgae ((Green Algae (Chaetomorpha linum and Caulerpa prolifera), Red Algae (Pterocladiella capillacea), Brown Algae (Sargassum vulgare and Cystoseira amentacea)) and Angiosperms/Seagrass (Halophila stipulace) collected from Iskenderun Bay (Arsuz and Kale regi...

Numerous studies have been conducted to elucidate the relation of tumor proximity to cancer prognosis and treatment efficacy in colorectal cancer. However, the molecular pathways and prognoses of left- and right-sided colorectal cancers are different, and this difference has not been fully investigated at the genomic level. In this study, a set of...

Abstract Algae biomass could be one of the most important economic values in near future. For this reason, we determined the biochemical compositions and molecular weight profiles (MWPs) of eight macroalgae; Green Algae (Codium fragile, Ulva intestinalis, Chaetomorpha linum, and Codium bursa), Red Algae ( Ellisolandia elongata, Jania rubens, and Am...

The world’s population is ageing at an accelerated pace. Ageing is a natural, physiological but highly complex and multifactorial process that all species in the Tree of Life experience over time. Physical and mental disabilities, and age-related diseases, would increase along with the increasing life expectancy. Ginger (Zingiber officinale) is a p...

Abstract Öz Purpose: The outbreak of SARS-CoV-2 infection has been named as Coronavirus Disease 2019 (Covid-19) by the World Health Organization (WHO). Covid-19 spread rapidly to many countries and was officially declared a pandemic by WHO on March 11, 2020, killing more than 4000 people. The disease is highly contagious and has many symptoms. Amon...

Sargassum vulgare was sampled by free dives in Iskenderun Bay, Hatay, Turkey, in September 2018. Sargassum vulgare is a material with high economic value because it has compounds that can be used in medical applications such as alginic acid and at the same time it contains carbohydrates and vitamins. Alginates were extracted with a sequential extra...

Naturally occurring fatty acids can be classified into three categories based on the number of double bonds in side-chain. These are saturated fatty acids, (no double bonds), monounsaturated fatty acids (MUFAs, a single double bond), and polyunsaturated fatty acids (PUFAs, ≥2 double bonds). Long-chain-PUFAs contain 13–19 carbon atoms whereas very-l...

Cancer is a multicomplex disease brought about uncontrolled proliferation of cells with contribution of hereditary and environmental factors. Although there are more than 100 known types of cancer and standard approaches have been developed for certain types of cancer, cancer is also an individual disease. With the advances in technology, new thera...

Facioscapulohumeral muscular dystrophy (FSHD) is in the top three list of all dystrophies with an approximate 1:8000 incidence. It is not a life-threatening disease; however, progression of the disease extends over being wheel-chair bound. Despite some drug trials have been continuing, including DUX4 inhibition, TGF-ß inhibition and resokine which...

In current study, proximate compositions (ash, lipid and protein) and fatty acid profiles of 5 different brown macroalgae (Stypopodium schimperi, Halopteris scoparia, Cystoseira compressa, Padina pavonica, Sargassum vulgare) collected from Isken-derun Bay (Arsuz and Kale regions) in July 2019 were determined. The highest and lowest ash values were...

Bone marrow mesenchymal stem cells have been investigated for many years, especially for tissue regeneration, and have inherent limitations. One of the rapidly developing fields in the scientific world in recent years is extracellular vesicles. Especially, bone marrow mesenchymal stem cell originated extracellular vesicles are known to have positiv...

Objective: The outbreak of COVID-19 caused by SARS-CoV-2 has promptly spread worldwide. This study aimed to predict mature miRNA sequences in the SARS-CoV-2 genome, their effects on protein-protein interactions in the affected cells, gene-drug relationships to detect possible drug candidates. Methods: Viral hairpin structure prediction and classif...

Background: Coronavirus disease 19 (COVID-19) is a highly contagious and pathogenic viral infection. Research has been stepped up due to the lack of vaccine for this viral infection and no effective treatment against this new virus. In order to control the spread, the effectiveness of algal phlorotannin-derived natural molecules on COVID-19, which...

Chronic Myeloid Leukemia (CML) is a myeloproliferative neoplasm characterized by presence of the BCR-ABL fusion gene which encodes the constitutively active BCR-ABL chimeric protein. Imatinib is first FDA approved first-line BCR-ABL targeting drug for the treatment of newly diagnosed CML cases. Nowadays there are recently developed and more efficie...

The global pandemic caused by infections ofthe newcoronavirus(COVID-19)makes it necessary to find possible less toxic and easily accessible therapeutic agents. In this study, we used strategies protein-protein docking to analyze phycocyanine against SARS-CoV-2-Spike/ TMPRSS2 and SARS-CoV-2-RBD/ACE2 for the treatment of COVID-19. The evaluation was...

Huntington’s disease (HD) is a neurodegenerative disorder characterized by progressive loss of neurons, which leads to behavioral systems and mental decline. HD is linked to repeat expansions of cytosine, adenine, and guanine in the Huntingtin (HTT) gene that give rise to mutation, leading to the formation of the HTT protein product. Oxidative stre...

Lung cancer is the leading cause of cancer-related death, and NSCLC constitutes nearly 85%-90% of all cases. The IRS proteins function as adaptors and transmit signals from multiple receptors. Upon binding of insulin to the insulin receptor (IR), IRS1 is phosphorylated at several YXXM motifs creating docking sites for the binding of PI3Kp85, which...

Representative results for mutational analysis of: (a) IRS1 detected in tumor samples compared to matched controls

Although the carriers with apparently balanced structural rearrangements have usually normal phenotype, phenotypical abnormalities can be seen in approximately 6% de novo cases. A number of different mechanisms are involved in the appearance of these phenotypic abnormalities, one of which is submicroscopic chromosomal imbalances at chromosomal brea...

A molecularly characterized interstitial deletion encompassing the Ilql4. l-q23.3 region in a case with multiple congenital abnormalities: Interstitial deletion of chromosome 11 long arm is a rare event. In most of the interstitial deletions on the long arm of chromosome 11 both the position and the si/e of these deletions are heterogeneous making...

We here report a prenatal case with de novo pericentric inversion inv(2)(p11.2q13). A 20-years-old G1PO woman was referred for amniocentesis at 17 weeks of gestation, because of a positive second trimester screening test for aneuploidy. A de novo pericentric inversion inv(2)(p11.2q13) was detected during conventional cytogenetic analysis. Array-CGH...

22q11.2 deletion syndrome is a pattern of malformations resulting from abnormalities during cephalic neural crest migration and during the development of the third and fourth branchial arch. It is also known as DiGeorge syndrome, as it is most often associated with a de novo 3 Mb hemizygous 22q11.2 deletion. The recognition of similarities and phen...

Childhood acute lymphoblastic leukemia (ALL) is the most common type of childhood leukemia. Specifically, ALL is a malignant disorder of the lymphoid progenitor cells, with a peak incidence among children aged 2–5 years. The t(12;21)(p13;q22) translocation occurs in 25 % of childhood B cell precursor ALL. In this study, bone marrow samples were obt...

Objective: About 15% of clinically recognized pregnancies result in spontaneous abortion in the first trimester and the vast majority of these are the result of chromosome abnormalities. Studies of chromosomal constitutions of first trimester spontaneous abortions have revealed that at least 50% of the abortions have an abnormal karyotype. In this...

Small deletions on the long arm of distal chromosome 4 do not appear to result in gross congenital malformations, with the most frequently reported clinical findings including mild to moderate intellectual disability, learning disabilities and minor dysmorphic features. Here we report on a cytogenetically detectable familial interstitial chromosome...

Placental mesenchymal dysplasia is an increasingly recognizable abnormality. Early cases have been confused with partial hydatidiform mole. Placental mesenchymal dysplasia is probably under-diagnosed because of being an unfamiliar clinical entity and also mistaken for gestational trophoblastic disease due to the similar sonographic findings of two...

The aim of this study was to present the first case with Down syndrome in conjunction with de novo isochromosomes of both short and long arm of the chromosome 21. Cytogenetics, molecular cytogenetics and molecular genetic analysis were performed on chorionic villus sampling at 12 weeks of gestation of a 42-years-old pregnant woman. According to cyt...

Unlabelled: Objective: The aim of this study was presentation of the ultrasonographic findings and perinatal autopsy of cases with rare chromosomal abnormalities. Material and method: A total of 10125 prenatal cases over 17 years including 8731 amniocentesis, 973 chorionic villus sampling, and 421 fetal blood sampling cases were evaluated for pr...

Chronic myelogenous leukemia (CML) is a clonal hematological disorder, which is characterized by the presence of the classical or variant Philadelphia translocations. During the progression to blastic phase of the disease secondary chromosomal abnormalities may emerge. Such secondary chromosomal abnormalities are nonrandom, the more frequent ones b...

In this report, we describe a patient with azoospermia in conjection with de novo ring chromosome 21 and monosomy 21 mosaicism. Inter-phase fluorescence in situ hybridisation (FISH) studies on uncultured peripheral blood and epithelial cells obtained by buccal smear revealed that 25% of the uncultured blood cells and 11% of the epithelial cells wer...

We report a patient with a de novo telomeric association between chromosomes 19 and Y in conjunction with mixed gonadal dysgenesis. The patient was first admitted to the clinic because of abnormal external genitalia. Laparoscopic evaluation revealed (1) a rudimentary uterus, one fallopian tube, and a small gonad resembling an ovary on the right sid...

Complex chromosomal rearrangements are very rare chromosomal abnormalities. Individuals with a complex chromosomal rearrangement can be phenotypically normal or display a clinical abnormality. It is believed that these abnormalities are due to either microdeletions or microduplications at the translocation breakpoints or as a result of disruption o...

The aim of the study was to examine whether SLC22A12 gene mutations might be influenced in primary gout disease. We included 32 patients with diagnosis of primary gout disease and 100 healthy volunteers. DNA was purified from peripheral blood, and all exons of the SLC22A12 gene were sequenced. We did not find any mutations in the SLC22A12 gene in a...

In this report we describe the first patient ever found to have azoospermia in association with both exceptional complex chromosomal rearrangements and microdeletions at two translocation breakpoints. A 36-year-old male who had been suffering from male factor infertility was admitted to our clinic. The patient also displayed mild dysmorphia. An ana...

Double partial trisomy resulting from 3:1 segregation of the respective chromosomal segments of the chromosomes involved in a balanced translocation in meiosis is rarely reported in the literature. We present here a first patient with multiple congenital malformations associated with double partial trisomy of 10pter-p15 and 14pter-q13 resulting fro...

We report, a newborn presenting multiple congenital abnormalities with karyotype; 47,XY,der(7)t(6;7)(pter-p23::p15-->qter),+der(9)t(7;9)(pter-->p15::q21.2--> pter)t(6;7;9)(p23;p15;q21.2)mat[20]. The mother and her phenotypically normal daughter were carriers of a complex chromosomal rearrangement with karyotypes; 46,XX,t(6;7;9)(p23;p15;q21.2)[20]....

Pure partial trisomy of chromosome 21 is a rare event. The patients with this aberration are very important for setting up precise karyotype-phenotype correlations particularly in Down syndrome phenotype. We present here a patient with Down syndrome with a de novo derivative chromosome 21. Karyotype of the patient was designated as 46,XY,der(21)(p1...

Mosaic Intrachromosomal Triplication of (12)(p11.2p13) in a Patient with Pallister-Killian Syndrome Pallister-Killian syndrome (PKS) is a rare genetic disorder usually characterized by mosaic tetrasomy of isochromosome 12p detected in cultured fibroblast cells. We describe here a patient with PKS and intrachromosomal triplication of the short arm o...

A reciprocal translocation between chromosomes 9 and 22 creates oncogenic BCR/ABL fusion in the breakpoint region of the derivative chromosome 22. The aim of this study was to evaluate the importance of atypical fluorescence in situ hybridization (FISH) signal patterns in pediatric and adult acute lymphoblastic leukemia (ALL) cases. We evaluated t(...

We present here a 16-year-old Turner syndrome patient with a complex karyotype that includes a maternally-inherited balanced translocation between chromosomes 4 and 16 and mosaicism of the isochromosome Xq10. Her karyotype was 45,X,t(4;16) (p15.2;p13.1)[9]/46,X,i(X) (q10),t(4;16)(p15.2;p13.1) [91]. The karyotype of her father was normal, whereas th...

Pure and complete 12p trisomy are rare. Here, we report on a unique patient with trisomy 12p syndrome due to centric fission of maternal chromosome 12. Conventional cytogenetic and fluorescence in situ hybridization (FISH) techniques revealed the proposita's karyotype to be 47,XX,+fis(12)(p10)mat whereas the maternal one was 47,XX,-12,+fis(12)(p10)...

We report here a prenatal case with de novo supernumerary marker chromosome originating from chromosome 17 in non-mosaic form resulting in normal pregnancy outcome. In this case, a 26-year-old pregnant woman was referred for amniocenthesis and microdeletion Fluorescence In Situ Hybridization (FISH) testing at 18 weeks of gestation due to history of...

Signaling pathways activated by epidermal growth factor receptors (EGFRs) are important in lung carcinogenesis. New treatment strategies with EGFR-targeting drugs provided improvements in management of lung cancer. However, molecular mechanisms underlying resistance to these drugs need to be evaluated. Surgically resected samples were obtained from...

Isochromosome 18p (i(18p)), is a rare chromosomal disorder that occurs once in about every 140,000 live births and affects males and females equally. Most of the cases are due to a de novo formation but in the literature familial cases were reported. Here, we report a young female with dysmorphic features as microcephaly, frontal bossing, strabismu...

The aim of the present study was to evaluate the relations between T(-786)C and Glu298Asp polymorphisms of the endothelial nitric oxide synthase (eNOS) gene and BMD in postmenopausal Turkish women. The T(-786)C and Glu298Asp polymorphisms were genotyped by PCR-RFLP method in 311 postmenopausal osteoporotic women (OP) and in 305 age-matched postmeno...

The aim of the study was to examine whether the TGF-beta1 T(861-20)-C gene polymorphism might be useful in identifying individuals with increased susceptibility to postmenopausal bone loss within the Turkish women population. T(861-20)-C polymorphism was genotyped in 616 postmenopausal women selected from the Turkish population: 311 postmenopausal...

Prenatal diagnosis of a de novo supernumerary marker chromosome originating from chromosome 16: A 37 year old pregnant woman was referred for amniocentesis at 18 weeks of gestation due to advanced maternal age and abnormal serum biochemistry. A nonsatellited, monocentric marker chromosome was observed with a frequency of 57% in cultured amniocytes....

beta-Thalassemia is an autosomal recessive disease characterized by defective beta-globin chain production. Osteoporosis is an important cause of morbidity in patients with beta-thalassemia major. The pathogenesis of reduced bone mineral density (BMD) is multifactorial. A range of genetics factors have been implicated in other populations of patien...

To evaluate the effects of hormone replacement therapy (HRT) on bone mineral density (BMD) in patients with or without COL1A1 Sp1 binding site polymorphism. Non-smoking otherwise healthy postmenopausal women (n=111), who had not received any kind of HRT for at least 3 years (between 2002 and 2005) at the onset of menopause, were included. All patie...

We describe a male neonate with a duplication of 4(q31.3qter) due to unbalanced segregation of a maternal translocation (4;5)(31.3;p15.1). He has a high broad nasal bridge, large, low-set ears, epicanthal folds, long philtrum, retrognathia, high arched palate, wide-spaced nipples, bilateral single transverse palmar creases, bilateral clinodactyly o...

Despite its rarity, donor cell leukemia (DCL) is a most intriguing entity. We report here the case of a 5 year-old girl with juvenile myelomonocytic leukemia and normal female karyotype who developed acute myeloblastic leukemia with a karyotype of 46, X, t(X; 7) (p21; p11.2), der(7) t(3; 7) (q13.3; q22) 5 months after peripheral blood hematopoietic...

To describe novel cytogenetic findings in four leukaemia patients. Conventional cytogenetic (CC) and fluorescence in situ hybridization (FISH) analyses were performed on bone marrow samples of four leukaemia patients. In this study, t(3;10)(q11;q25) and t(2;22)(p21;q11.2) were detected as novel translocations. t(8;16;21)(q22.1;q13;q22) and t(1;6;9;...

Until recently, presence of de novo marker or derivative chromosomes was quite problematic for genetic counseling especially in prenatal diagnosis, because characterization of marker and derivative chromosomes by conventional cytogenetic techniques was nearly impossible. However, recently developed molecular cytogenetic technique named Multicolor F...

Fanconi anaemia (FA) is an autosomal recessive chromosomal breakage syndrome diagnosed specifically on the basis of hypersensitivity to crosslinking agents. Fanconi anaemia patients are at high risk for developing several types of cancer, particularly acute myeloblastic leukaemia (AML). It suggested that chromosomal breaks, observed in these patien...

To assess the trends in the frequency and the medical effects of consanguinity in the south coast of Turkish population using local and national data in the last 11 years. This cross-sectional study was carried out in Manavgat province, which is a major tourism center on the Mediterranean coast of Turkey. The authors studied consanguineous marriage...

Aim: To evaluate the effects of hormone replacement therapy (HRT) on bone mineral density (BMD) in patients with or without COL1A1 Sp1 binding site polymorphism. Methods: Non-smoking otherwise healthy postmenopausal women (n = 111), who had not received any kind of HRT for at least 3 years (between 2002 and 2005) at the onset of menopause, were inc...