Genomes and Genes
Affiliation: Marmara University
- Novel growth hormone receptor gene mutation in a patient with Laron syndromeAhmet Arman
The Faculty of Engineering, Marmara University, Turkey
J Pediatr Endocrinol Metab 23:407-14. 2010..We are reporting a mutation (W104R) at exon 5 of GHR gene that is not previously reported, and it is a novel mutation...
- Novel growth hormone-releasing hormone receptor gene mutations in Turkish children with isolated growth hormone deficiencyAhmet Arman
Marmara University Faculty of Medicine, Department of Medical Genetics, Istanbul, Turkey E ma il
J Clin Res Pediatr Endocrinol 6:202-8. 2014..However, genetic defects on GHRHR causing IGHD in the Turkish population have not yet been reported. To identify mutations on GHRHR gene in a population of Turkish children with IGHD...
- Lack of association between IL-6 gene polymorphisms and rheumatoid arthritis in Turkish populationA Arman
The Faculty of Engineering, Molecular Genetics and Cell Culture Laboratory, Marmara University, Goztepe Campus, 34722 Istanbul, Turkey
Rheumatol Int 32:2199-201. 2012..230). There was also no relationship between -572 (P = 0.150) and -597 (P = 0.912) gene polymorphism and RA. Our results suggested that IL-6 gene promoter polymorphisms have no association with RA in Turkish population...
- Association between sporadic Parkinson disease and interleukin-1 beta -511 gene polymorphisms in the Turkish populationAhmet Arman
The Faculty of Engineering, Marmara University, Istanbul, Turkey
Eur Cytokine Netw 21:116-21. 2010..Furthermore, the 2/2 (T/T) genotype of IL-1 beta (-511) may protect individuals from PD...
- Multiple sclerosis: association with the interleukin-1 gene family polymorphisms in the Turkish populationNihal Isik
1Department of Neurology, Medeniyet University Göztepe Training and Research Hospital, Istanbul, Turkey
Int J Neurosci 123:711-8. 2013..It involves inflammation and demyelination. Since cytokines play an important role in the development of MS, genes encoding cytokines such as the Interleukin (IL)-1 family are candidate genes for MS susceptibility...
- Interleukin-1B (-511) gene polymorphism is associated with acute coronary syndrome in the Turkish populationOzer Soylu
The Department of Cardiology, Dr Siyami Ersek Hospital, Istanbul, Turkey
Eur Cytokine Netw 19:42-8. 2008..The purpose of this study was to determine the relationship between IL-1 gene family polymorphisms (IL-1RN, IL-1B in positions -511 and +3953) and ACS in the Turkish population...
- Novel splice site mutation in the growth hormone receptor gene in Turkish patients with Laron-type dwarfismAhmet Arman
Faculty of Engineering, Marmara University, Istanbul
J Pediatr Endocrinol Metab 21:47-58. 2008..These results imply that the splicing occurs arthe GT site in intron 2, leaving the extra inserted G residue at the end of exon 2, thus changing the open reading frame of GHR resulting in a premature termination codon in exon 3...
- Interleukin-1 receptor antagonist gene VNTR polymorphism is associated with coronary artery diseaseAhmet Arman
Departamento de Cardiologia, Faculdade de Engenharia, Universidade Marmara, Istambul, Turquia
Arq Bras Cardiol 91:293-8. 2008..Atherosclerosis is an inflammatory disease. Cytokine gene variations such as those associated with the IL1 family are involved in the pathogenesis of atherosclerosis...
- Assessment of interleukin-1 gene cluster polymorphisms in lone atrial fibrillation: new insight into the role of inflammation in atrial fibrillationBaris Gungor
Department of Cardiology, Siyami Ersek Thoracic and Cardiovascular Surgery Center, Training and Research Hospital, Istanbul, Turkey
Pacing Clin Electrophysiol 36:1220-7. 2013..The role of inflammation has been shown previously. Interleukin (IL) system is the main modulator of the inflammatory responses and genetic polymorphisms of IL-1 cluster genes are associated with increased risk for inflammatory diseases...
- Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic featuresAhmet Arman
The Department of Pediatric Endocrinology, Marmara University, Istanbul, Turkey
Orphanet J Rare Dis 9:60. 2014..To characterize cathepsin K (CTSK) mutations in a group of patients with pycnodysostosis, who presented with either short stature or atypical fractures to pediatric endocrinology or dysmorphic features to pediatric genetics clinics...