Cetin Kocaefe

Cetin Kocaefe
Hacettepe University · Department of Medical Biology

MD, PhD

About

45
Publications
9,741
Reads
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569
Citations
Additional affiliations
May 2005 - present
Hacettepe University
Position
  • Faculty Member, Primary Investigator
February 2004 - May 2005
Novartis
Position
  • Researcher
June 2001 - December 2003
French National Centre for Scientific Research
Position
  • Researcher

Publications

Publications (45)
Article
Full-text available
Therapeutic agents used for non-small cell lung cancer (NSCLC) have limited curative efficacy and may trigger serious adverse effects. Cannabinoid ligands exert antiproliferative effect and induce apoptosis on numerous epithelial cancers. We confirmed that CB1 receptor (CB1R) is expressed in NSCLC cells in this study. Arachidonoylcyclopropylamide (...
Article
Aim: Pathogenic variants within mitochondrial tRNA and rRNA genes negatively affect protein synthesis function and cause oxidative phosphorylation defects. The majority of mitochondrial cytopathies are caused by pathogenic point variants within the mitochondrial tRNA gene for leucine (MT-TL1). This study was designed to evaluate a novel amplificati...
Article
Full-text available
Background: Autosomal recessive osteopetrosis is a genetically and phenotypically heterogeneous disease, caused by defects in osteoclast formation and function. The only available treatment is allogeneic stem cell transplantation that has still high morbidity and mortality. The goal of the present study was to generate iPSCs from bone marrow-deriv...
Poster
The epidemiological studies on mitochondrial disease suggest that the prevalence is at least 1 in 5000. Mitochondrial diseases can be related to mutations of genes encoded by either nuclear DNA or mitochondrial DNA. The majority of “mitochondrial cytopathies” are caused by point mutations in the tRNALeu (UUR)(MTTL1) gene. m.3243A>G mutation in the...
Article
Full-text available
Objective Detection of mtDNA copy number is required for diagnosis of mtDNA depletion. Multiplex quantification of mtDNA in blood samples was claimed via normalizing to a nuclear single copy gene using qPCR. This is not possible in high mtDNA samples due to template abundance. Multiplex qPCR assays cannot be normalized to single copy sequences of t...
Conference Paper
Objectives: Point mutations on mitochondrial tRNA and rRNA genes cause oxidative phosphorylation defects by impairing protein synthesis. The majority of “mitochondrial cytopathies” are caused by point mutations on the tRNA Leu (MT-TL1) gene. The A3243G mutation is identified in 80% of MELAS patients. However, MT-TL1 may harbor T3271C, C3256T, T3291...
Article
Full-text available
Background: Familial hemophagocytic lymphohistiocytosis 2 (FHL2) is the most common familial type of hemophagocytic lymphohistiocytosis with immune dysregulation. FHL2 patients have mutations in the perforin gene which cause overactivation and proliferation of cytotoxic T lymphocytes and natural killer cells. Perforin is the key component of the c...
Article
Full-text available
Background: Neurofibromatosis type 1 (NF1) is a common autosomal dominantly inherited disorder that affects both the skin and the nervous system. NF1 occurs due to the mutations in the NF1 gene. Neurofibromas are the most common Schwann cell-based tumors in NF1 patients, which are mainly categorized into dermal and plexiform neurofibromas. Studies...
Article
The pathological endpoint of congenital and senile myopathies is chronic muscle degeneration characterized by the atrophy of contractile elements, accompanied by fibrosis and fatty infiltration of the interstitium. Tenotomy is the release of preload that causes abrupt shortening of the muscle and models atrophy and fibrosis without prominent inflam...
Article
Full-text available
Mammalian cells are widely used for recombinant protein production in research and biotechnology. Utilization of export signals significantly facilitates production and purification processes. 35 years after the discovery of the mammalian export machinery, there still are obscurities regarding the efficiency of the export signals. The aim of this s...
Article
The transcriptional events and pathways responsible for the acquisition of the myogenic phenotype during regeneration and myogenesis have been studied extensively. The modulators that shape the extracellular matrix in health and disease, however, are less understood. Understanding the components and pathways of this remodeling will aid the restorat...
Article
Full-text available
The discovery of the structure of DNA and, consequently, of gene sequences accelerated efforts towards the implementation of genome technologies for the advancement of human health. Despite remarkable progress in biotechnology, human genetic diseases are still untreatable at present. Advancement in gene transfer technologies in the 90s initiated th...
Article
Full-text available
Regenerative response to central nervous system damage in mammals is limited because of inhibitor signals which consist of myelin associated inhibitor proteins and chondroitin sulfate proteoglycans. Inhibitor signals mainly affect cytoskeleton elements which are important for axonal sprouting and neurite outgrowth. Coronin 1A is an actin cytoskelet...
Data
##Assembly-Data-START## Assembly Method :: Clustal Omega v. 1.2.1 Sequencing Technology :: Sanger dideoxy sequencing ##Assembly-Data-END##
Data
##Assembly-Data-START## Assembly Method :: Clustal Omega v. 1.2.1 Sequencing Technology :: Sanger dideoxy sequencing ##Assembly-Data-END##
Data
##Assembly-Data-START## Assembly Method :: Clustal Omega v. 1.2.1 Sequencing Technology :: Sanger dideoxy sequencing ##Assembly-Data-END##
Article
Full-text available
Anti-TNFα treatment has become an important part of our systemic treatment in chronic inflammatory arthritis. Local application to the joint produces transient clinical improvement since the drug quickly leaves the joint.
Data
Full-text available
The most novel approach utilizing IL-10 in sepsis is IL-10 gene delivery in experimental model of sepsis. In our study, we aimed to compare kinetics of intravenous versus intraperitoneal delivery of IL-10 gene transfer in early stages of sepsis. This is a prospective controlled experimental study. Six groups were gathered with 20 Swiss-Albino femal...
Article
Full-text available
Human umbilical cord stromal mesenchymal stem cells (hUCS-MSCs) have the potential to differentiate into numerous cell types including epithelial cells, neurons and hepatocytes in vitro, in addition to mesenchyme-derived cells such as osteocytes, chondrocytes and adipocytes. One important property of these cells is the lack of type II major histoco...
Article
Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC) is a rare autosomal recessive disease presenting with increased head circumference at birth or in early infancy. MLC1 (MIM 605908) mutations are responsible for this disorder. In this study, we sequenced the entire coding region of the MLC1 gene in 13 patients and detected five novel...
Article
Full-text available
The mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) is a rare and life-threatening, autosomal recessive, multisystem disorder, caused by the mutations in the thymidine phosphorylase gene. Herein, we report a case of a 21 year-old male with a long history of intestinal pseudo-obstruction who was diagnosed with MNGIE syndrome a...
Article
The real time PCR technique requires the normalization of the gene of interest to reference genes that are accepted to be ubiquitously expressed. The choice of the reference gene(s) needs to be determined by researchers according to the particular tissue or model of interest. The best normalization gene is not easy to decide, particularly if the in...
Article
Full-text available
Selenoproteins are enzymes containing selenium in their structure and are involved in cellular processes such as defense against oxidative stress and cell survival. The aim of this study is to investigate the expression of four selenoproteins (GPX1, TRXR1, SELP and SELW) in the hippocampus of intractable mesial temporal lobe epilepsy (MTLE) patient...
Article
Malignant infantile osteopetrosis (MIOP) is a disorder of osteoclasts characterized by defective bone resorption and death in infancy. The multipotent mesenchymal stromal cells (MSC) and their progeny (osteoblasts) are major components of the bone marrow (BM) microenvironment and are found in close contact with cells of hematopoietic origin, includ...
Article
Spinal muscular atrophy is an autosomal recessive motor neuron disease that is caused by mutation of the survival motor neuron gene (SMN1) but all patients retain a nearly identical copy, SMN2. The disease severity correlates inversely with increased SMN2 copy. Currently, the most promising therapeutic strategy for spinal muscular atrophy is induct...
Article
Experimental studies suggest an enhanced endothelial and platelet nitric oxide (NO) generation after statin treatment, possibly due to increased endothelial NO synthase (eNOS) activity and protein levels. In parallel with experimental research, statins were shown to increase the forearm blood flow independently of serum cholesterol in humans. Howev...
Article
Full-text available
It has been previously demonstrated that human umbilical cord stroma-derived stem cells (HUCSCs) are competent to differentiate into adipocytes. However, controversies have arisen as to whether HUCSCs can become mature adipocytes or not, and to what extent these cells can be induced in adipogenic pathway. Here, we extensively analyzed their adipoge...
Article
Full-text available
Polycystic ovary syndrome (PCOS) is the most common endocrine disorder of the women of reproductive age. Familial clustering of PCOS has been consistently reported suggesting that genetic factors play a role in the development of the syndrome although PCOS cases do not exhibit a clear pattern of Mendelian inheritance. It is now well established tha...
Article
Full-text available
The aim of this study was to determine the effect of immunoregulatory cytokine interleukin-10 (IL-10) gene therapy on multiple organ injury (MOI) induced by a cecal ligation and puncture (CLP) model of sepsis in mice. Male Balb/c mice subjected to CLP were treated with either an hIL-10-carrying vector or an empty control vector. We assessed the deg...
Article
Interleukin 10 (IL-10) has been considered to alleviate the inflammatory cytokine response in various models of sepsis. Although being regarded as a key immunomodulator molecule to be beneficial for the treatment of sepsis, recombinant IL-10 treatment is limited by efficacy and tolerability. We tested a novel approach and conducted i.p. liposomal I...
Article
To determine and compare androgen receptor (AR) immunostaining and AR messenger ribonucleic acid (mRNA) expression in cremaster muscles associated with descended or undescended testis. Eight boys with descended testis but with inguinal hernia and 8 boys with undescended testis were evaluated. Serum follicle-stimulating hormone (FSH), luteinizing ho...
Article
MyoD exerts a master transcriptional control over the myogenic differentiation cascade. Here, we study different approaches to induce myogenic transdifferentiation in mature adipocytes utilizing MyoD gene transfer. Organotypic cultures of fat tissue and a long-term culture of in vitro differentiated adipocytes deduced that MyoD provoked morphologic...
Article
Mitochondrial cytopathies are a group of heterogeneous disorders characterized by multisystem involvement. Renal involvement in mitochondrial cytopathies is usually manifested as tubular dysfunction owing to impaired energy metabolism; however, a few cases with glomerular changes have also been reported. Herein we report the case of a 4-month-old T...
Article
The aim of this study was to investigate the expression pattern and cellular source of matrix metalloproteinases (MMP) in vasculitic neuropathy. Matrix metalloproteinases are endopeptidases degrading components of extracellular matrix proteins, and they have been implicated in the pathogenesis of inflammatory demyelination. They are induced by cyto...
Article
Full-text available
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) is a rare autosomal recessive neurologic disorder characterised by multiple mitochondrial DNA deletions. In this study, five Turkish MNGIE patients are investigated for mtDNA deletions and TP gene mutations. The probands presented all the clinical criteria of the typical MNGIE p...
Article
The relaxant effect of sumatriptan, a 5-HT(1B/1D) receptor agonist, on the rat anococcygeus muscle was investigated. Sumatriptan induced concentration-dependent relaxations of the phenylephrine-precontracted rat anococcygeus muscle. N(G)-nitro-L-arginine, methylene blue, glibenclamide, tetrodotoxin, indomethacin, GR 113808, GR 55562, methysergide,...

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Projects

Projects (2)
Project
We aim to design CRISPR/Cas and/or lentiviral constructs and test these on previously developed Griscelli Syndrom Type 2 (GS-2) induced pluripotent stem cell (iPSCs) lines, to develop gene therapy for GS-2.