A5011318873- Hearing, Cochlea, Tinnitus, Genetics
- Connexins and lens biology
- RNA regulation and disease
- Genetics and Neurodevelopmental Disorders
- Hereditary Neurological Disorders
- Vestibular and auditory disorders
- Autoimmune Bullous Skin Diseases
- Sexual Differentiation and Disorders
- Chromosomal and Genetic Variations
- Genetic Neurodegenerative Diseases
- Neurogenetic and Muscular Disorders Research
- Genomic variations and chromosomal abnormalities
- Cell Adhesion Molecules Research
- Genomics and Rare Diseases
- Cancer-related Molecular Pathways
- Microtubule and mitosis dynamics
- Ion Channels and Receptors
- Neuroscience of respiration and sleep
- Moyamoya disease diagnosis and treatment
- Ocular Disorders and Treatments
- Reconstructive Facial Surgery Techniques
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Ear Surgery and Otitis Media
- Congenital Ear and Nasal Anomalies
- TGF-β signaling in diseases
Karadeniz Technical University
2008-2022
Radboud University Nijmegen
2005-2008
Radboud University Medical Center
2005-2008
In two large Turkish consanguineous families, a locus for autosomal recessive nonsyndromic hearing loss (ARNSHL) was mapped to chromosome 6p21.3 by genome-wide linkage analysis in an interval overlapping with the loci DFNB53 (COL11A2), DFNB66, and DFNB67. Fine mapping excluded subsequently homozygous mutations were identified lipoma HMGIC fusion partner-like 5 (LHFPL5) gene, also named tetraspan membrane protein of hair cell stereocilia (TMHS) which recently shown be mutated "hurry scurry"...
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...
Congenital forms of hearing impairment can be caused by mutations in the estrogen related receptor beta (ESRRB) gene. Our initial linkage studies suggested ESRRB locus is linked to high caries experience humans. We tested for association between and dental 1,731 subjects, if was expressed whole saliva, associated with microhardness enamel, during enamel development mice. Two families recessive DFNB35 showed more extensive destruction caries. Expression levels saliva samples differences...
Mutations in the transmembrane channel-like gene 1 (TMC1) cause prelingual autosomal recessive (DFNB7/11) and postlingual progressive dominant (DFNA36) nonsyndromic hearing loss. To determine genetic causes of loss (ARNSHL) northeast east Turkey, 65 unrelated families without mutations protein coding region GJB2 (GJB2-negative) were analyzed. A genomewide scan for homozygosity linkage analysis one these revealed a 13.2 cM critical between D9S273 D9S153 at chromosome 9p13.2-q21.31 with...
Recent studies have revealed a new type of variation in the human genome encompassing relatively large genomic segments ( approximately 100 kb-2.5 Mb), commonly referred to as copy number (CNV). The full nature and extent CNV its frequency different ethnic populations is still largely unknown. In this study we surveyed set 12 CNVs previously detected by array-CGH. More than 300 individuals from five populations, including three distinct European, one Asian African population, were tested for...
Abstract Myosin XVA is an unconventional myosin which has been implicated in autosomal recessive nonsyndromic hearing impairment (ARNSHI) humans. In Myo15 A mouse models, vestibular dysfunction accompanies the loss. Genomewide homozygosity mapping and subsequent fine two Turkish families with ARNSHI revealed significant linkage to a critical interval harboring known deafness gene MYO15A on chromosome 17p13.1‐17q11.2. Subsequent sequencing of led identification novel missense mutation,...
<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....
Studies on the biochemical and molecular mechanisms underlying obesity have shown that expression of some proteins was decreased with in rat adipose tissue. One these is carbonic anhydrase III (CA III) which constitutes 24% cytosolic protein content its function unclear. A freshly isolated cell culture model used to examine effect leptin insulin CA expression. It found while increased it suggests decrease observed tissue may be related hyperleptinemia.
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...
Mutations in the GJB2 gene have been shown to be major cause of autosomal recessively inherited, prelingual, non-syndromic hearing loss. 35delG was found most frequent mutation among Caucasians. In this study, we performed haplotype analysis two large families with recessive loss (totally 33 affected, 37 unaffected) from Trabzon (a city Eastern Black Sea region) by using polymorphic markers close region, and identified a common haplotype, 2-6-4. The frequency mutant chromosomes having 2-6-4...
We describe a 34-year-old patient who was admitted with episodic diplopia, ptosis, and swallowing difficulties of 6 months duration. He also had some muscle cramps aggravated by exercise since the age 20. Bilateral ptosis eyelids, normal gaze, rare fasciculations tongue, easy fatigability ocular bilateral proximal limb muscles, atrophy testes, gynecomastia were found on neurologic examination. Repetitive nerve stimulation studies jitter measurement disclosed defect neuromuscular junction...
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...