Sevcan Tuğ Bozdoğan
A5033895827- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- RNA modifications and cancer
- Sexual Differentiation and Disorders
- Prenatal Screening and Diagnostics
- Genetics and Neurodevelopmental Disorders
- Congenital heart defects research
- Neurogenetic and Muscular Disorders Research
- Ubiquitin and proteasome pathways
- BRCA gene mutations in cancer
- Hemoglobinopathies and Related Disorders
- Cardiomyopathy and Myosin Studies
- Iron Metabolism and Disorders
- Protease and Inhibitor Mechanisms
- Acute Myocardial Infarction Research
- Cancer Genomics and Diagnostics
- Neuroblastoma Research and Treatments
- Genetics, Bioinformatics, and Biomedical Research
- Mitochondrial Function and Pathology
- Genetic Syndromes and Imprinting
- Lysosomal Storage Disorders Research
- Neurofibromatosis and Schwannoma Cases
- Cancer-related gene regulation
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Neuroendocrine regulation and behavior
Cukurova University
2017-2024
Mersin Üniversitesi
2014-2019
Bülent Ecevit University
2008-2009
Medical Genetics Center
2006
Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder that presents with extensive phenotypic variability, including facial dysmorphism, developmental delay/intellectual disability (DD/ID), abnormal extremities, and hirsutism. About 65% of patients harbor mutations in genes encode subunits or regulators the cohesin complex, NIPBL, SMC1A, SMC3, RAD21, HDAC8. Wiedemann-Steiner (WDSTS), which shares CdLS features, caused by lysine-specific methyltransferase 2A (KMT2A). Here,...
Multilocus variation-pathogenic variants in two or more disease genes-can potentially explain the underlying genetic basis for apparent phenotypic expansion cases which observed clinical features extend beyond those reported association with a "known" gene.Analyses focused on 106 patients, 19 whom was previously attributed to variation at known genes. We performed retrospective computational reanalysis of whole-exome sequencing data using stringent Variant Call File filtering criteria...
Arthrogryposis, defined as congenital joint contractures in 2 or more body areas, is a clinical sign rather than specific disease diagnosis. To date, 400 different disorders have been described that present with arthrogryposis, and variants of 220 genes associated these disorders; however, the underlying molecular etiology remains unknown considerable majority cases.We performed whole exome sequencing (WES) 52 patients presentation arthrogryposis from 48 families.Affected individuals 17...
Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by combination of neurological, psychiatric, and cognitive decline associated with calcium deposition on imaging. To date, mutations in five genes have been linked to PFBC. However, more than 50% individuals affected PFBC no molecular diagnosis. We report four unrelated families presenting initial learning difficulties seizures later psychiatric symptoms, cerebellar ataxia, extrapyramidal signs,...
Klippel–Feil syndrome is a rare disorder represented by subgroup of segmentation defects the vertebrae and characterized fusion cervical vertebrae, low posterior hairline, short neck with limited motion. Both autosomal dominant recessive inheritance patterns were reported in families Klippel–Feil. Mutated genes for both ( GDF6 GDF3 ) MEOX1 forms have been shown to be involved somite development via transcription regulation signaling pathways. Heterotaxy arises from proteins that function...
β-Thalassemia and hemoglobinopathies are common genetic disorders in Turkey this retrospective study our aim was to determine the frequency of β-thalassemia Adana, which is one biggest cities located southern part Turkey.Data from 3000 individuals admitted Seyhan Hereditary Blood Disorders Center Adana were evaluated. The blood samples collected into EDTA-containing tubes hematological parameters analyzed using an automatic cell counter. High performance liquid chromatography technique used...
Genetic heterogeneity, reduced penetrance, and variable expressivity, the latter including asymmetric body axis plane presentations, have all been described in families with congenital limb malformations (CLMs). Interfamilial intrafamilial heterogeneity highlight complexity of underlying genetic pathogenesis these developmental anomalies. Family-based genomics by exome sequencing (ES) rare variant analyses combined whole-genome array-based comparative genomic hybridization were implemented...
Pontocerebellar hypoplasia (PCH) constitutes a heterogeneous neurodegenerative/neurodevelopmental disorder of the pons and cerebellum with onset in prenatal period. Our study aimed to present different clinical radiological manifestations our genetically diagnosed PCH patients. Six patients were enrolled this from September 2018 March 2021. All genetic investigations done at Cukurova University Medical School.Five children categorized under one types (type 10,7,11). Homozygous mutations CLP1...
Heterogeneity in symptoms associated with COVID-19 infected patients remains unclear. ACE2 and TMPRSS2 gene variants are considered possible risk factors for COVID-19. In this study, a retrospective comparative genome analysis of the from 946 whole-exome sequencing data was conducted. Allele frequencies all were calculated filtered to remove allele lower than 0.003 prioritize functional coding variants. The majority detected intronic, only two three nonsynonymous analyzed cohort. main that...
Thrombotic and microangiopathic effects have been reported in COVID-19 patients. This study examined the contribution of hereditary thrombophilia factors Prothrombin (FII) Factor V Leiden (FVL) genotypes to severity disease development thrombosis. investigated FII FVL alleles a cohort 9508 patients (2606 male 6902 female) with thrombophilia. It was observed that 930 these had infected by SARS-CoV-2 causing COVID-19. The demographic characteristics their medical history were recorded....
BCAS3 microtubule-associated cell migration factor (BCAS3) is a large, highly conserved cytoskeletal protein previously proposed to be critical in angiogenesis and implicated human embryogenesis tumorigenesis. Here, we established loss-of-function variants as causative for neurodevelopmental disorder. We report 15 individuals from eight unrelated families with germline bi-allelic BCAS3. All probands share global developmental delay accompanied by pyramidal tract involvement, microcephaly,...
Abstract Mucolipidosis type‐II (ML‐II) is an ultra‐rare disorder caused by deficiency of N‐acetylglucosaminyl‐1‐phosphotransferase enzyme due to biallelic pathogenic variants in GNPTAB gene. There are a few known about the natural history ML‐II. In this study, we presented course 24 patients diagnosed with Mean age at diagnosis was 9.3 ± 5.7 months. All had coarse face, developmental delay, and hypotonia. The mean survival time 3.01 1.4 years. oldest patient 6.5 years old. Twelve died lung...
Abstract The post-transcriptional modification of tRNAs plays a key role in tRNA folding and function to ensure proper levels protein synthesis during growth development. Pathogenic variants enzymes have been implicated diverse human neurodevelopmental neurological disorders. However, the molecular basis for many these disorders remains unknown, thereby limiting our understanding potential treatment pathologies linked modification. Here, we describe an extensive cohort 31 individuals from 24...
<i>Background:</i> The contribution of genetic factors in hypertension cannot be denied. <i>Methods:</i> In this study we evaluated the relationship between vitamin D receptor (VDR) gene polymorphisms (<i>Bsm</i>-I, <i>Apa</i>-I and <i>Fok</i>-I), target organ damage 74 patients (female/male 49/25, mean age 49.2 ± 8 years) with essential hypertension. VDR genotypes were by polymerase chain reaction digestion amplified products...
The frequency of hemoglobinopathies is still high in Adana, the biggest city Cukurova Region that located southern part Turkey. Our aim was to identify concomitant mutations α- and β-globin genes which lead complex establish an appropriate plan action for each subject, particularly when prenatal diagnosis necessary.We studied association between gene α-thalassemia genotypes. reverse hybridization technique employed perform molecular analysis, results were confirmed by amplification...
Autism spectrum disorder (ASD) is a neurodevelopmental characterized by impairment in social skills and communication with repetitive behaviors. Etiology still unclear although it thought to develop interaction of genes environmental factors. Oxytocin has extensive effects on intrauterine brain development. Vitamin D, affects neural development differentiation contributes the regulation around 900 including oxytocin receptor gene. In present study, contribution D vitamin gene polymorphisms...