A5047863829- Sexual Differentiation and Disorders
- Autism Spectrum Disorder Research
- Cancer-related Molecular Pathways
- Microtubule and mitosis dynamics
- Congenital heart defects research
- Hearing, Cochlea, Tinnitus, Genetics
- Pharmaceutical and Antibiotic Environmental Impacts
- Antibiotic Use and Resistance
- Moyamoya disease diagnosis and treatment
- Hormonal and reproductive studies
- Galectins and Cancer Biology
- TGF-β signaling in diseases
- Genetics and Neurodevelopmental Disorders
- Ion Channels and Receptors
- NF-κB Signaling Pathways
- Ocular Disorders and Treatments
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Platelet Disorders and Treatments
- RNA regulation and disease
- Urological Disorders and Treatments
- Inflammatory Bowel Disease
- Cell Adhesion Molecules Research
- Ubiquitin and proteasome pathways
- Genomics and Rare Diseases
- Chromosomal and Genetic Variations
Karadeniz Technical University
2007-2023
In a consanguineous Turkish family, locus for autosomal recessive nonsyndromic hearing impairment (ARNSHI) was mapped to chromosome 2q31.1–2q33.1. Microsatellite marker analysis in the complete family determined critical linkage interval that overlapped with DFNB27, which causative gene has not yet been identified, and DFNB59, recently described auditory neuropathy caused by missense mutations DFNB59 gene. The 352–amino acid (aa) product pejvakin is present hair cells, supporting spiral...
<h3>Aim</h3> This study aimed to identify the underlying genetic defect responsible for anophthalmia/microphthalmia. <h3>Methods</h3> In total, two Turkish families with a total of nine affected individuals were included in study. Affymetrix 250 K single nucleotide polymorphism genotyping and homozygosity mapping used localisation question. Coding region <i>ALDH1A3</i> gene was screened via direct sequencing. cDNA samples generated from primary fibroblast cell cultures expression analysis....
Receptor-interacting serine/threonine kinase 4 (RIPK4) and transforming growth factor-β 1 (TGF-β1) play critical roles in the development maintenance of epidermis. A negative correlation between expression patterns RIPK4 TGF-β signaling during epidermal homeostasis-related events suppression by TGF-β1 keratinocyte cell lines suggest presence a regulatory loop two factors. So far, has been shown to regulate nuclear factor-κB (NF-κB), protein C (PKC), wingless-type MMTV integration site family...
Genetic etiologies of autism spectrum disorders (ASD) are complex, and the genetic factors identified so far very diverse. In complex diseases such as ASD, de novo or inherited chromosomal abnormalities valuable findings for researchers with respect to identifying underlying risk factors. With gene mapping studies on these abnormalities, dozens genes have been associated ASD other neurodevelopmental diseases. present study, we aimed idenitfy causative in patients who an apparently balanced...
Carbapenems are used in the treatment of infections caused by multidrug-resistant bacteria and colistin (polymyxin E) is as last choice antimicrobial agent those resistant to carbapenems. The worldwide increased use colistin, which causes cell death disrupting permeability cytoplasmic membrane gram-negative bacteria, raised problem resistance. transferable resistance enzyme mcr, a phosphoethanolamine transferase that adds lipid A modifies lipopolysaccharides, leading polymyxin aim this study...
Abstract Bartsocas‐Papas syndrome (BPS) is a rare autosomal recessive disorder characterized by popliteal pterygia, syndactyly, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, genital malformations. Most of BPS cases reported to date are fatal either in prenatal or neonatal period. Causative genetic defects were mapped on RIPK4 gene encoding receptor‐interacting serine/threonine kinase 4, which critical for epidermal differentiation development. variants associated...
Objectives: Ulcerative colitis (UC) is an inflammatory disease restricted to the colon's mucosal layer. UC a complex with largely unknown etiology. Mendelian Randomization (MR) method that uses variations in genes have causal effect of modifiable exposure disease, genetic epidemiological studies. Trefoil factor 3 (TFF3) secreted protein expressed mainly colonic mucosa binds mucin 2 protein, forming protective barrier for colon from bacteria and other insults. This study aimed identify if...
Intellectual disability (ID) is a lifelong condition that begins during the developmental period, and characterized by significant limitations in intellectual functioning adaptive behavior including social, conceptual practical skills. In these case series, we aimed to identify genetic etiopathogenesis of two male patients with ID from seven-generation large-Turkish family. Two affected boys syndromic were evaluated. Genome-wide auto zygosity mapping was performed on individuals other...
Aim: Cancers are Turkey's second most common cause of mortality, following cardiovascular diseases.Tobacco and obesity the two major etiological factors for cancer progression, which highly prevalent in Turkey.This study aimed to evaluate new cases Turkey attributable these main risk factors.Materials Methods: The tobacco-related cancers based on International Agency Research Cancer (IARC) monographs were esophagus, oral cavity, gastric, pancreatic, larynx, lung, renal, bladder cancers,...