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Browsing Moleküler Biyoloji ve Genetik by Title

Browsing Moleküler Biyoloji ve Genetik by Title

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  • From genome scan to disease gene identification 
    Uğur, Sibel Aylin. (Thesis (Ph.D.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2008., 2008.)
    In the framework of this study, genome wide linkage scans of the following five inherited disorders were evaluated with parametric programs and suggestive loci were subsequently investigated with fine-mapping studies and ...
  • From mutations to disease mechanism in Rett Syndrome, breast cancer, and congenital hypothyroidism 
    Barış, İbrahim. (Thesis (Ph.D.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2008., 2008.)
    Epidemiological studies provide the correlative data to understand the etiology of human inherited diseases and develop efficient genetic testing assays. Additionally, the accumulated data of genetic and epigenetic findings, ...
  • Functional analysis of a splice site mutation in BABRG2 gene and its effect on GABAA receptor 
    Kaplan, Öyküm. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2014., 2014.)
    Epilepsy is a group of diseases produced by non-controlled discharge of neurons affecting more than 2% of the population and some forms include genetic determinants. The principal group of inherited epilepsy is Genetic ...
  • Functional and morphological evaluation of drosophila CMT models 
    Gökerküçük, Elif Begüm. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2015., 2015.)
    Charcot-Marie-Tooth (CMT) disease is the most frequent inherited peripheral neuropathy in humans with a prevalence of 1 in 2500. It comprises a large group of genetically heterogeneous hereditary motor and sensory neuropathies ...
  • Functional and structural insights into a novel insect G protein-coupled receptor, allatostatin receptor type C of pine processionary moth 
    Shahraki, Aida. (Thesis (Ph.D.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2020., 2020.)
    Insect neuropeptides regulate di erent aspects of insect physiology. They exert their function via binding to their cognate receptor belonging to Class A G protein coupled receptors (GPCRs). Neuropeptide receptors are ...
  • Functional characterization of a novel hexosaminidase, CG7985, in DROSOPHILA eye development 
    Kıral, Ferdi Rıdvan. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2015., 2015.)
    CG7985 is one of the four hexosaminidases encoded by the Drosophila genome. Although the other three hexosaminidases have been well-characterized in terms of their enzymatic activities and metabolic pathways in which they ...
  • Functional enrichment methodology for analyzing omics data to study the aetiology of rare diseases 
    Saygı, Ceren. (Thesis (Ph.D.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2018., 2018.)
    Rare diseases (RDs) are a large and diverse group of disorders and defined by low prevalence, in other words, it is any disease that affects a small percentage of the population. According to OMIM and Orphanet, ~7000 ...
  • Functional study of common bean isoliquiritigenin 2'-0- methyltransferase gene under salt stress 
    Niron, Harun. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2015., 2015.)
    Soil salinity has been one of the major problems in agriculture for many years. Nearly 20% of all cultivated land and half of irrigated land of world soil are saline and these levels are expected to rise in the future which ...
  • Functional study of certain genes selected from SSH library of common bean under salinity stress 
    Canher, Balkan. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2014., 2014.)
    Considering that one third of Earth’s arable lands are affected by soil salinity, understanding how plants respond to salinity stress and creation of stress tolerant crops is of outmost importance. Phaseolus vulgaris (common ...
  • Further characterization of heart - and skeletal muscle-specific mitochondrial aspartyle -tRNA synthetase (DARS2) knockout mouse 
    Kartal, Özlem. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2022., 2022)
    Mitochondrial respiratory chain defects are the primary cause of mitochondrial disorders. Mitochondria have developed various adaptive responses to counteract the effects of these defects. In this study, the heart- and ...
  • Gene hunt in four inherited diseases 
    Çetinkaya, Murat. (Thesis (Ph.D.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2010., 2010.)
    Genetic linkage analysis is applied to identify loci that harbor gene or genes associated with a disease. It is possible to map disease loci by observing alleles the segregation of microsatellite or SNP markers with the ...
  • Gene localization studies in two neurological disorders 
    Duru, Nadire. (Thesis (M.S.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2006., 2006.)
    Autozygosity mapping is a frequently used powerful method for discovering loci for autosomal recessive diseases resulting from consanguineous marriages. Gene localization is an initial step for the identification of genes ...
  • Generation of CRISPR/Cas-mediated mutants of IROC genes and protein tagging for endogenous expression analysis in drosophila 
    Çayıroğlu, Ecem. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2019., 2019.)
    In the olfactory system, correct olfactory receptor neuron (ORN) development depends on proper olfactory receptor (OR) gene expression and proper projection of axons to higher brain centers. Thus, during development, ORNs ...
  • Genetic analyses in Seckel syndrome and azoospermia 
    Korur, Serdar. (Thesis (M.S.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2004., 2004.)
    The autosomal recessive genetic disorders Seckel syndrome and azoospermia were studied. In Seckel syndrome, the two known loci were tested for linkage in 15 Seckel families. In addition, four ATR interacting and fifteen ...
  • Genetic analysis in three inherited disorders 
    Bozoğlu, Tarık. (Thesis (M.S.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2008., 2008.)
    Genes responsible for inherited disorders can be localized on the genome by genetic linkage analysis. Mapping of a disease locus is accomplished by genotyping the family members with polymorphic markers in order to identify ...
  • Genetic and molecular analyses of Turkish patients with pelizaeus - merzbacher disease 
    Bilir, Birdal. (Thesis (Ph.D.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2007., 2007.)
    Pelizaeus-Merzbacher disease (PMD) is a rare inherited leukodystrophy with Xlinked recessive segregation. About 80 per cent of patients with PMD have been associated with mutations of the PLP1 gene on Xq21.3-Xq22 which ...
  • Genetic diversity of almonds (Prunus dulcis) of Datça 
    Kaptan, Damla. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2012., 2012.)
    Anatolia’s agricultural biodiversity, which has evolved with the contributions of many different cultures over thousands of years, is today being rapidly eroded as a result of climate change, population growth, globalization ...
  • Genetic factors contributing to ALS in Turkey: ATXN2 polyQ repeat expansions and SNP/CNV associations 
    Ömür, Özgül. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2013., 2013.)
    ALS is the most frequent motor neuron disorder and so far no cure has been developed for this devastating disease. ALS is characterized by the selective loss of both the upper motor neurons of the motor cortex and the lower ...
  • Genetically accurate models of SOD1-based ALS in Drosophila melanogaster 
    Deniz, Pınar. (Thesis (M.S.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2011., 2011.)
    ALS is a late onset, rapidly progressive and ultimately fatal neurodegenerative disease, caused by the loss of motor neurons in the brain and spinal cord. Generally, 5-10% of ALS patients have a family history (fALS), ...
  • Genetically accurate models of SOD1-based ALS in drosophila: validation and characterization 
    İskender, Ceren. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2013., 2013.)
    SOD1 has been a unique target of ALS research as the first identified gene of the disease; since 20 years, SOD1 has not been related to any other disease unlike other ALScausing genes. There are more than 160 mutations ...

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