A5090116096- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Cystic Fibrosis Research Advances
- Neonatal Health and Biochemistry
- Genomics and Rare Diseases
- RNA modifications and cancer
- Neurogenetic and Muscular Disorders Research
- ATP Synthase and ATPases Research
- RNA and protein synthesis mechanisms
- Neonatal Respiratory Health Research
- Folate and B Vitamins Research
- interferon and immune responses
- RNA regulation and disease
- Trace Elements in Health
- Skin and Cellular Biology Research
- Tracheal and airway disorders
- Wnt/β-catenin signaling in development and cancer
- Muscle Physiology and Disorders
- Hemoglobin structure and function
- Congenital Anomalies and Fetal Surgery
- Neuroscience and Neuropharmacology Research
- Inflammasome and immune disorders
- Erythrocyte Function and Pathophysiology
- Ethics in Clinical Research
- Tissue Engineering and Regenerative Medicine
Hacettepe University
2006-2018
Scientific and Technological Research Council of Turkey
2000-2007
Hacettepe University Hospital
1998-2003
Children's Clinical University Hospital
1998
Children's Hospital of Philadelphia
1980-1981
University of Pennsylvania
1980-1981
We report the genomic localization by homozygosity mapping and identification of a gene for new form non-syndromic autosomal recessive congenital ichthyosis. The phenotype usually presents as non-bullous ichthyosiform erythroderma with fine whitish scaling on an erythrodermal background; larger brownish scales are present buttocks, neck legs. A few patients presented more generalized lamellar Palmoplantar keratoderma was in all cases, whereas only 60% were born collodion babies. Six...
l-2-Hydroxyglutaric aciduria (l-2-HGA) is characterized by progressive deterioration of central nervous system function including epilepsy and macrocephaly in 50% cases, elevated levels l-2-hydroxyglutaric acid urine, blood cerebrospinal fluid (CSF). Nuclear magnetic resonance imaging shows distinct abnormalities. We report the identification a gene for l-2-HGA (MIM 236792) using homozygosity mapping. Nine homozygous mutations three missense mutations, two nonsense splice site deletions were...
Mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) can cause congenital bilateral absence vas deferens (CBAVD) as a primarily genital form cystic fibrosis. The spectrum and frequency CFTR mutations in Turkish males with CBAVD is largely unknown.We investigated 51 who had been diagnosed at Hacettepe University, Ankara, for presence gene by direct sequencing coding region exon/intron boundaries.We identified 27 different on 72.5% alleles. Two-thirds patients harboured...
<h3>Abstract</h3> <h3>Background</h3> Genomic instability promotes evolution and heterogeneity of tumors. Unraveling its mechanistic basis is essential to design appropriate therapeutic strategies. In a recent study we reported an unexpected oncogenic property p21<sup>WAF1/Cip1</sup> showing that chronic expression, in p53-deficient environment, causes genomic by deregulating the replication licensing machinery. <h3>Results</h3> Extending on this work now demonstrate can further fuel...
The antisickling effect of cetiedil, alpha-cyclohexyl-3-thiopheneacetic acid 2-(hexahydro-1H-azepin-1-yl)-ethyl ester, has been investigated. concentration cetiedil required for 50% inhibition erythrocyte sickling was about 140 micro M. An achieved regardless whether added before or after deoxygenation. minimal gelling deoxy Hb S increased by less than 10% in the presence 218 M cetiedil. oxygen equilibrium curves were not significantly affected Erythrocytes treated with high concentrations...
Autosomal recessive spastic ataxia of Charlevoix-Saguenay is an early onset form hereditary paraplegia with a peculiar clinical presentation. In addition to cerebellar findings which manifest first ataxic gait in life and spasticity, on evolutionary basis, there axonal neuropathy, prominent myelinated fibers the optic fundus, evidence atrophy that can be detected by cranial MRI. Intelligence usually normal, however lower IQs have also been documented. This disorder mainly originates from...
<i>Objective:</i> To collect data on the practices of molecular genetic testing (MGT) laboratories for development national and international policies quality assurance (QA). <i>Methods:</i> A web-based survey MGT laboratory directors (n = 827; response rate 63%) in 18 countries 3 continents. QA reporting indices were developed calculated each responding laboratory. <i>Results:</i> Laboratory setting varied among within countries, as did qualifications...
Recent evidence supports a critical role of neurotrophins in the regulation both neuronal survival and synaptic transmission during epileptogenesis. We have examined immunohistochemical expression high‐ (tyrosine kinase receptors, trk) low‐affinity (p75) neurotrophin receptors (NTRs) hippocampal specimens from 18 patients with chronic temporal lobe epilepsy [TLE; 14 sclerosis (HS) four focal lesions (tumours) not involving hippocampus proper]. Nonepileptic autopsy brains ( n = 6) surgical...
Bronchiectasis is characterized by permanent changes in the structure and function of airways. Its cause cannot be identified some cases. A genetic disease can predispose to bronchiectasis our country, where consanguinity parents common. Transporter associated with antigen presentation (TAP) deficiency syndrome recurrent bacterial lower respiratory tract infections, which bronchiectasis. Our aim was document relationship between idiopathic TAP gene polymorphisms. Forty-four patients 100...