A5059789944- Genetic Syndromes and Imprinting
- Genomic variations and chromosomal abnormalities
- Inflammasome and immune disorders
- Acute Myeloid Leukemia Research
- Genetics and Neurodevelopmental Disorders
- Fetal and Pediatric Neurological Disorders
- Congenital Anomalies and Fetal Surgery
- Genetic and Kidney Cyst Diseases
- Bone and Dental Protein Studies
- Hedgehog Signaling Pathway Studies
- Prenatal Screening and Diagnostics
- Hemoglobinopathies and Related Disorders
- Endodontics and Root Canal Treatments
- Blood Coagulation and Thrombosis Mechanisms
- Immune Cell Function and Interaction
- Genomics and Rare Diseases
- Connective tissue disorders research
- Hormonal and reproductive studies
- Genetic factors in colorectal cancer
- Drug Transport and Resistance Mechanisms
- Eosinophilic Disorders and Syndromes
- Cancer-related Molecular Pathways
- Trace Elements in Health
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- RNA modifications and cancer
Medical Genetics Center
2012-2024
Sağlık Bilimleri Üniversitesi
2017-2023
Turkish Armed Forces
2009-2020
New York Academy of Medicine
2013
Gülhane Askerî Tıp Akademisi
2009-2013
Military Medical Academy
2010-2012
Genetikum
2010
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...
To evaluate the cytotoxicity and mineralization effects of iRoot BP in human dental pulp cells (hDPCs) to compare them with those white mineral trioxide aggregate (WMTA).hDPCs were exposed prepared dilutions (1 : 1-1 10) test materials. Cell viability was evaluated using XTT assay after incubation periods 24, 48 or 72 h. The expression mineralization-related genes (bone morphogenic protein, osteonectin, bone sialoprotein, osteopontin, dentine sialophosphoprotein collagen type 1) heme...
Abstract Dubowitz syndrome (DubS) is considered a recognizable characterized by distinctive facial appearance and deficits in growth development. There have been over 200 individuals reported with or “Dubowitz‐like” condition, although no single gene has implicated as responsible for its cause. We performed exome (ES) genome sequencing (GS) 31 clinically diagnosed DubS. After genome‐wide sequencing, rare variant filtering computational Mendelian genomic analyses, presumptive molecular...
The aim of this study was to determine the rate MEFV gene mutations, responsible for familial Mediterranean fever (FMF), in patients with hematolymphoid neoplasm. five most common mutations (M694V, M680I, V726A, M694I and E148Q) determined 46 We found a high frequency carriers multiple myeloma (60%) acute lymphocytic leukaemia (33.3%), whereas chronic (9%) non-Hodgkin lymphoma (5%) had low mutation carrier rate. There is no Hodgkin lymphoma. Furthermore, statistically significant...
Purpose: To compare homocysteine and thrombophilic mutations for the methylenetetrahydrofolate reductase (MTHFR) C677T, factor V Leiden, prothrombin G20210A between retinal vein occlusion (RVO) healthy controls in a Turkish population.Materials methods: Forty-nine subjects with RVO were compared status MTHFR G20210A, Leiden those of 68 controls. Then, groups subdivided into two subgroups according to age (less than 50 years old, equal or more old) further compared.Results: Mean plasma level...
Prader-Willi syndrome (PWS) is a rare and complex genetic disorder caused by the loss of expression paternal copy imprinted genes on chromosome 15q11-q13. A variety findings have been reported phenotypic differences between subtypes PWS. This article compares clinical 57 PWS patients subtype explores possible associations in this context.
Gorlin-Chaudhry-Moss syndrome (OMIM 233500) is a rare congenital malformation with the cardinal manifestations of craniofacial dysostosis, hypertrichosis, underdeveloped genitalia, ocular, and dental anomalies. Since 1960, only six affected individuals have been reported. We report 4-year 6-month-old female patient this phenotype review clinical presentation all patients known so far. Previously unreported malformations extremities, larynx, nose are also described, expanding syndrome....
POU3F3 variants cause developmental delay, behavioral problems, hypotonia and dysmorphic features. We investigated the phenotypic genetic landscape, genotype-phenotype correlations in individuals with POU3F3-related disorders. recruited unpublished through international collaborations obtained updated clinical data on previously published individuals. Trio exome sequencing or single followed by segregation analysis were performed novel cohort. Functional effects of missense 3D protein...
Objectives: The primary purpose of this study was to examine the effects triethylene glycol dimethacrylate (TEGDMA) on odontoclastic differentiation in dental pulp tissue. Material and Methods: different TEGDMA dosages capability cells were analyzed vitro using following methodologies: i) flow cytometry tartrate-resistant acid phosphatase (TRAP) staining; ii) apoptotic Annexin V iii) mRNA expression osteoprotegerin (OPG) receptor activator nuclear factor (NF)-kB ligand (RANKL) genes by...
Abstract Objectives Carbonic anhydrase VA (CAVA) deficiency is a rare autosomal recessive inborn error of metabolism that leads to acute metabolic crises, especially in the neonatal or infantile period. It caused by enzyme CAVA, which encoded CA5A gene. Case presentation Fifteen patients with homozygous pathogenic mutations involving 10 different lesions have been reported literature up date. Main clinical and biochemical features CAVA include lethargy, hyperammonemic encephalopathy,...
Background/Aims Chronic arthritis of familial Mediterranean fever (FMF) involves weight-bearing joints and can occur in patients without a history acute attack. Our aim was to investigate possible causal relationship between FMF osteoarthritis population which is quite common. Methods Patients with late stage primary were enrolled, five MEFV gene mutations investigated. The frequency compared among previous healthy group from our center. Results One hundred 100 controls studied....
Deep venous thrombosis and pulmonary embolism, known as thromboembolism seen a fairly common multifactorial diseases. Differ between populations due to genetic factors, several polymorphisms associated with was conducted. As result of these studies the relationship disease development polymorphism is not clear yet. In this study we aimed investigate role angiotensin converting enzyme insersion/deletion (ACE I/D) plasminogen activator inhibitor-1 4G/5G (PAI-1 4G/5G) in disease.In our study,...
We evaluated the gene expression profiles of human dental pulp cells exposed to iRoot BP using microarray after 24 and 72 h. The results were verified quantitative reverse transcriptase PCR analysis. Of 36,000 transcripts arrayed, 21 up-regulated 15 down-regulated by more than two fold. largest group genes included those involved in nucleobase-containing compound metabolic processes, cell communication, protein developmental biological regulation. groups development, regulation processes. In...
METTL5 gene is one of the members methyltransferase superfamily and biallelic variants cause intellectual disability syndrome (ID) with microcephaly. This article reports three new cases related ID in a consanguineous family.Afghanistan descent family was affected by novel homozygous c.362A > G (p.Asp121Gly) variant. variant predicted to be `pathogenic` multiple in-silico tools. Patients had dysmorphic neurodevelopmental features including disability, microcephaly, poor/absent speech,...
Background and Objective: Patients with Klinefelter Syndrome (KS) have increased cardiometabolic risk however the pathogenesis is not clear. We investigated presence of endothelial dysfunction, insulin resistance inflammation in an unconfounded population KS. Methods: A total 32 patients KS (mean age 21.59 ± 1.66 years) 33 healthy control subjects age: 22.15 1.03 were enrolled. The demographic parameters, Asymmetric dimethylarginine (ADMA), homeostatic model assessment (HOMA-IR) index...
Otodental syndrome has been described as a of sensorineural hearing loss and dental anomalies. In this syndrome, generally autosomal dominant inheritance pattern described. study, we present an 8-year-old girl with bilateral partial anodonty findings in non-consanguineous family without eye involvement. literature, reported only few cases high penetrance variabile expressivity. Therefore, assume that case may be accepted variant form otodental solely neurosensorial loss, deep narrow palate dysplasia