A5089469331- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Reproductive Biology and Fertility
- Genomics and Rare Diseases
- Hemoglobinopathies and Related Disorders
- Cancer-related gene regulation
- Sperm and Testicular Function
- Epigenetics and DNA Methylation
- Cancer Genomics and Diagnostics
- Ovarian function and disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Congenital Anomalies and Fetal Surgery
- Chromosomal and Genetic Variations
- Immunodeficiency and Autoimmune Disorders
- RNA Research and Splicing
- Metabolism and Genetic Disorders
- Connective tissue disorders research
- Pediatric Hepatobiliary Diseases and Treatments
- Mitochondrial Function and Pathology
- Parvovirus B19 Infection Studies
- Tumors and Oncological Cases
- Microbial infections and disease research
- Genomics and Chromatin Dynamics
- Medical Imaging and Pathology Studies
- Graphene and Nanomaterials Applications
Intergen (Turkey)
2017-2024
Yüksek İhtisas Üniversitesi
2020-2023
King's College London
2013-2016
Zübeyde Hanim Maternity Hospital
2015
Istanbul Yeni Yüzyıl University
2015
Genetic studies have identified common variants within the intergenic region (HBS1L-MYB) between GTP-binding elongation factor HBS1L and myeloblastosis oncogene MYB on chromosome 6q that are associated with elevated fetal hemoglobin (HbF) levels alterations of other clinically important human erythroid traits. It is unclear how these noncoding sequence affect multiple erythrocyte characteristics. Here, we determined several HBS1L-MYB regulatory elements occupied by key transcription factors...
MXene QDs (MQDs) have been effectively used in several fields of biomedical research. Considering the role hyperactivation immune system infectious diseases, especially COVID-19, MQDs stand as a potential candidate nanotherapeutic against viral infections. However, efficacy SARS-CoV-2 infection has not tested yet. In this study, Ti3 C2 are synthesized and their mitigating is investigated. Physicochemical characterization suggests that enriched with abundance bioactive functional groups such...
The transition nuclear protein 1 (TNP1) gene is a member of the TNP family and abundantly expressed during spermatogenesis. Protamine (PRM1), another sperm protein, abundant in many species. present study aimed to evaluate protamine (PRM1) expression infertile male patients with low high DNA fragmentation (SDF). Semen samples (n=100) were obtained from participants undertaking treatment intracytoplasmic injection. levels TNP1 PRM1 measured using real-time quantitative polymerase chain...
Mandibuloacral dysplasia (MAD) is an autosomal recessive disorder characterized by acroosteolysis (resorption of terminal phalanges), skin changes (hyperpigmentation), clavicular hypoplasia, craniofascial anomalies, a hook nose and prominent eyes, delayed closures the cranial sutures, lipodystrophy, alopecia, skeletal anomalies. MAD patients are classified according to lipodystrophy patterns: type A B. The vast majority cases caused LMNA gene mutations. with (MADA) have been reported R527H,...
In 1993, we described an English family with beta‐thalassaemia that was not linked to the beta‐globin locus. Whole genome sequence analyses revealed potential causative mutations in 15 different genes, of which 4 were consistently and uniquely associated phenotype all 7 affected members, also confirmed by genetic linkage analysis. Of are present a centromeric region chromosome 1, ASH 1L proposed as through functional mRNA knock‐down chromatin‐immunoprecipitation studies human erythroid...
Abstract Study question Is ultra-rapid vitrification and thawing superior to standard in terms of preserving oocyte viability, embryo competence enhancing pregnancy outcomes? Summary answer Ultra-rapid preserves viability quality as confirmed by their euploidy, non-invasive biomarkers the culture media, favorable outcomes. What is known already Cryopreservation protocols for oocytes embryos have varying cooling rates, cryoprotectant chemical composition concentration. While avoids...
Complex chromosome rearrangements (CCRs) involve more than 2 chromosomal breakpoints and cause the exchanges of segments between two or chromosomes. The carriers CCRs have normal phenotypes, but they a higher risk reproductive failure.This paper presents couple with history affected children, one spontaneous abortion, three in vitro fertilization (IVF) failures, healthy boy who were referred to our laboratory for preimplantation genetic testing (PGT). wife had been evaluated as carrier...
14q duplications caused by parental pericentric inversion of chromosome 14 are rarely reported and no clear genotype-phenotype correlation has been determined yet. Here we a 7 years old female patient with recombinant characterized q duplication originated from maternal 14. Principal clinical findings the child include developmental delay, microcephaly, hypertelorism, low set ears, clinodactyly fifth fingers, hypotonia, telecanthus cardiac malformation. Her final karyotype was...
SLC35D1 gene encodes UDP-glucuronic acid/UDP-n-acetylgalactosamine dual transporter protein and transports organic or inorganic molecules across cellular membranes. pathogenic variants causes Schneckenbecken dysplasia (SHNKND) which is a rare lethal autosomal recessive disorder characterized by the snail-like pelvis, flattening of vertebral bodies, short broad long bones with dumbbell-like appearance, thoracic hypoplasia. Only six cases homozygous have been reported to date, all these were...
Background: Mitochondrial diseases are a clinically heterogeneous group of rare hereditary disorders that defined by genetic defect predominantly affecting mitochondrial oxidative phosphorylation.Mitochondrial caused mutations genes encoded either nuclear DNA or DNA.Hundreds different point and large-scale rearrangements have been shown to cause including Kearns-Sayre syndrome, Leber's optic neuropathy, Leigh myoclonic epilepsy with ragged-red fibers, encephalopathy lactic acidosis...