A5002759959- Genetics and Neurodevelopmental Disorders
- RNA regulation and disease
- RNA modifications and cancer
- Pancreatic function and diabetes
- Ocular Disorders and Treatments
- Electrospun Nanofibers in Biomedical Applications
- Congenital Diaphragmatic Hernia Studies
- Genomics and Rare Diseases
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Mesenchymal stem cell research
- Cancer-related molecular mechanisms research
- Medical Imaging and Pathology Studies
- Chronic Myeloid Leukemia Treatments
- Osteoarthritis Treatment and Mechanisms
- Bone Tumor Diagnosis and Treatments
- Cleft Lip and Palate Research
- Skin and Cellular Biology Research
- Genomic variations and chromosomal abnormalities
- Hedgehog Signaling Pathway Studies
- MicroRNA in disease regulation
- Kruppel-like factors research
- Tissue Engineering and Regenerative Medicine
- Genetic and Kidney Cyst Diseases
- Neonatal Respiratory Health Research
- Connective tissue disorders research
Hacettepe University
2017-2025
Abstract This work explores the application of Allium sativum (Garlic) extract, in creation novel polymeric core‐sheath fibers for wound therapy applications. The pressurized gyration (CS PG) technology is utilized to mass‐produce with a polycaprolactone (PCL) core and polyethylene oxide (PEO) sheath, loaded garlic extract. produced maintain structural integrity, long‐term stability provide cell‐friendly surface rapid antibacterial activity. physical properties, morphology, therapeutic...
Skeletal dysplasias, characterized by bone, cartilage, and connective tissue abnormalities, often arise due to disruptions in extracellular matrix (ECM) dynamics growth factor-dependent signaling pathways. RSPRY1, a secreted protein with RING SPRY domains, has been implicated bone development, yet its exact role remains be determined. RSPRY1 gene mutations are associated spondyloepimetaphyseal dysplasia (SEMD), rare skeletal disorder severe epiphyseal metaphyseal deformities. This study...
We report a case of multiple suture craniosynostosis in patient with hypochondroplasia. The presented short stature marked by relatively long trunk and extremities. clinical radiological findings were suggestive Additionally, was identified during the evaluation, which is an unusual finding To further investigate, exome sequencing performed, revealing previously reported pathogenic heterozygous variants FGFR3 ERF genes. Exome not only enhances accuracy diagnosing individual cases genetic...
Background: Ectodermal dysplasias (EDs) represent a heterogeneous group of genetic disorders marked by impaired development multiple tissue derivatives originating from the human ectoderm, including teeth, hair, nails, and sweat glands. Advances in next-generation sequencing technology have facilitated identification novel genes, such as TSPEAR, contributing to emergence Dysplasia-14 hair/tooth type (ECTD14) phenotype, primarily characterized hypotrichosis, hypodontia, dysmorphic features....
The concept of preconditioning mesenchymal stem cells (MSCs) under different stress conditions or with bioactive molecules is introduced to optimize their therapeutic potential. This study investigates the physicochemical effect hierarchical TiO 2 nanotube arrays, a versatile and easy-to-prepare nanosurface, on MSC behaviour. By precisely controlling nanotopography through anodization, we demonstrate significant influence surface properties adhesion, proliferation differentiation....
Small cell lung cancer (SCLC) is an aggressive tumor type with early dissemination and distant metastasis capacity. Even though optimal chemotherapy responses are observed initially in many patients, therapy resistance almost inevitable. Accordingly, SCLC has been regarded as archetype for stem (CSC) dynamics. To determine the immune-modulatory influence of CSC SCLC, this study focused on characterization CD44+CD90+ CSC-like subpopulations SCLC. These cells displayed mesenchymal properties,...
Abstract Background Aetiological diagnosis in non‐syndromic intellectual disability (NSID) still poses a diagnostic challenge to clinicians. Methods Screening is currently achieved by chromosomal microarrays followed whole‐exome sequencing (WES). In search for the aetiological yield of WES patients with NSID, 59 unrelated were studied. Results Among patients, 44 (74.6%) from consanguineous unions. Epilepsy was present 11 (37.9%), behavioural problems 12 (41.4%) and autistic features 14...
Abstract Primordial dwarfism (PD) is one of a highly heterogeneous group disorders characterized by severe prenatal/postnatal growth restriction. Defects in various pathways such as DNA repair mechanism, impaired centrioles, abnormal IGF expression, and spliceosomal machinery may cause PD including Seckel syndrome, Silver–Russell syndrome. Microcephalic osteodysplastic primordial (MOPD) types I/III, II, Meier–Gorlin In recent years with the wide application exome sequencing (ES) field PD,...
The combination of gelatin and hydroxyapatite (HA) has emerged as a promising strategy in dental tissue engineering due to its favorable biocompatibility, mechanical properties, ability support cellular activities essential for regeneration, rendering them ideal components hard applications. Besides, precise control over interconnecting porosity is paramount importance materials. Conventional methods creating porous scaffolds frequently encounter difficulties regulating pore size...
Two sisters from a consanguineous couple were seen in genetics department for facial dysmorphic features and glaucoma. They both had broad foreheads, hypertelorism, megalocorneas, thick eyebrows with synophrys, flat malar regions, bulbous noses, mild prognathism. Both glaucoma, younger one also cataracts phthisis bulbi. Other findings included bilateral partial cutaneous syndactyly of 2nd 3rd fingers, history impacted teeth dentigerous cyst the elder one, intellectual disability (mild...
Gorlin syndrome is a rare, autosomal dominant multi-systemic disorder with predisposition to the development of cancers such as medulloblastoma and nevoid basal cell carcinoma. Heterozygous pathogenic variants in
Stromal cells have been widely used in biomedical research and disease modeling studies vitro. The most commonly types of stromal are mesenchymal stem fibroblasts. Their cellular phenotypes differentiation capabilities quite similar there no specific distinction criteria. In order to identify transcriptomic differences between these 2 cell types, we performed next-generation RNA sequencing. Using the global gene expression profile pathway analysis, showed that human primary bone marrow...
Background A number of inborn errors metabolism caused by abnormal protein trafficking that lead to endoplasmic reticulum storage diseases (ERSD) have been defined in the last two decades. One such disorder involves biallelic mutations gene encoding resident co-chaperone DNAJC3 (P58IPK) leads diabetes second decade life, addition multiple endocrine dysfunction and nervous system involvement. Objective The aim this study was define natural history new form diabetes, especially course...
Congenital cataract, which refers to lenticular opacity diagnosed at birth or more commonly during the first year of life, is one leading causes childhood blindness. Molecular understanding disease pathogenesis has evolved thanks many studies based on modern technologies. In this study, we aimed identify and discuss molecular etiology nonsyndromic nonmetabolic bilateral congenital cataract by whole-exome sequencing (WES). Patients with presumed be isolated after metabolic genetic evaluation...
Mowat-Wilson syndrome (MWS) is an autosomal-dominant complex developmental disorder characterized by distinctive facial appearance, intellectual disability, epilepsy, and various clinically heterogeneous abnormalities reminiscent of neurocristopathies. MWS caused haploinsufficiency ZEB2 due to heterozygous point mutations copy number variations.We report on two unrelated affected individuals with novel ZEB2indel mutations, molecularly confirming the diagnosis MWS. Quantitative real-time...