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Browsing Moleküler Biyoloji ve Genetik by Author "Battaloğlu, Esra."

Browsing Moleküler Biyoloji ve Genetik by Author "Battaloğlu, Esra."

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  • Aberrant global DNA methylation in neurodegeneration: ALS and trinucleotide repeat disorders 
    Hamzeiy, Hamid. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2016., 2016.)
    Amyotrophic lateral sclerosis (ALS) is a late onset neurodegenerative disease of the motor neurons, leading to death within two-three years of onset. Extensive studies have thus far helped identify many genetic causes for ...
  • Analysis of the Cx32, MPZ and PMP22 mutations in the Turkish Charcot-Marie-Tooth patients 
    Maracı, Nazmiye Öncü. (Thesis (M.S.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2006., 2006.)
    Charcot-Marie-Tooth disease is the most common hereditary peripheral neuropathy with a prevalence rate of one in 2500. Although the disease is classified as demyelinating and axonal CMT based on clinical investigations, ...
  • Detection of DNA duplications in charcot-marie-tooth type 1 (CMT1) patients by DNA analysis 
    Bissar-Tadmouri, Nisrine. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 1997., 1997.)
    Charcot-Marie-Tooth neuropathy (CMT), also known as Hereditary Motor and Sensory Neuropathy (HMSN), is a heterogeneous group of inherited diseases of peripheral nerves. It is estimated that 112500 persons have a form of ...
  • Development and molecular analysis of CMT4B1 drosophila model 
    Kılınç, Merve. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2013., 2013.)
    Charcot-Marie-Tooth (CMT) disease is the most common inherited disorder of the peripheral nervous system. Among about 40 genes associated with the disease, MTMR2 loss-of-function mutations are classified as CMT4B1 subtype. ...
  • Development of a drosophila CMT model via overexpression and knocking-in of GDAP1 gene 
    Akyüz, Hüseyin Kaya. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2013., 2013.)
    Charcot-Marie-Tooth (CMT) disease is one of the most common inherited disorders of the nervous system. Known also as hereditary motor and sensory neuropathy, this disease is characterized by distal sensory loss, muscle ...
  • Development of a drosophila CMT4A model using imago approach 
    Yıldırım, Kerem. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2013., 2013.)
    Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathy. So far, approximately 50 genes and loci have been associated with CMT. Mutations in ganglioside-induced differentiation-associated protein ...
  • Does blocking of firoblast growth factor-1 and its receptors affect mouse peripheral nerve myelination? 
    Şimşek, Büşra. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2015., 2015.)
    Bi-directional communication between axon and Schwann cell is vital to the peripheral nervous system (PNS) myelination process. Disruption of this highly regulated communication is the main underlying reason of peripheral ...
  • Evaluation of exome sequencing data & mutation screening in GDAP1, GJB1, MPZ, NDRG1 and PMP22 genes in Turkish CMT patients 
    Sıvacı, Merve. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2013., 2013.)
    Charcot-Marie-Tooth (CMT) disease which is an inherited peripheral neuropathy is an excellent candidate to be analyzed by exome sequencing because of its locus heterogeneity and low prevalence. Protein-coding regions, ‘the ...
  • Exclusion of autosomal recessive hereditary spastic paraplegia loci in Turkish families 
    Özeş, Burçak. (Thesis (M.S.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2011., 2011.)
    Hereditary spastic paraplegias (HSPs), also known as Strümpell-Lorrain disease, describe a heterogeneous group of genetic neurodegenerative disorders. The main feature of the disease is progressive spasticity in the lower ...
  • Expression analysis and behavioral assays in drosophila CMT models 
    Küey, Cansu. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2015., 2015.)
    Charcot–Marie–Tooth (CMT) disease is the most common inherited disorder of the peripheral nervous system. It is characterized by progressive distal sensory loss and weakness, muscle atrophy in hands and lower legs, 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 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 ...
  • 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 ...
  • Genetics of hereditary sensory and autonomic neuropathy (HSAN) 
    Tezel, Seden. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2020., 2020.)
    Hereditary Sensory Neuropathy (HSN), predominantly affects sensory nerves and is characterized by sensory loss in addition to muscle weakness, wasting and painless injuries. Autonomic symptoms are commonly associated with ...
  • GJB1 mutation screening and in vitro investigation of its upstream mutations 
    Arı, Oğuz. (Thesis (M.A.) - Bogazici University. Institute for Graduate Studies in the Social Sciences, 2017., 2017.)
    Charcot-Marie-Tooth Type 1X (CMTX1) is the X chromosome linked form of the disease and caused by mutations in the gap junction protein 1 (GJB1) gene. This gene is the second most commonly mutated gene in all CMT forms after ...
  • Identification on new loci, genes, and mutations responsible for hereditary spastic paraplegia 
    Özeş, Burçak. (Thesis (Ph.D.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2018., 2018.)
    Hereditary Spastic Paraplegia (HSP), characterized by lower limb spasticity and progressive weakness, is a group of inherited neurodegenerative disorders. 47 of the 63 genes responsible for HSP, have been associated with ...
  • Investigation of motor neuron diseases by wes: genetic dissection of a Turkish ALS cohort 
    Akçimen, Fulya. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2017., 2017.)
    Amyotrophic lateral sclerosis (ALS), the most common motor neuron disease, is characterized by muscle weakness and atrophy due to the degeneration of motor neurons in the motor cortex, brain stem and spinal cord. Both ...
  • Investigation of novel recessive causative genes and gene / allele frequency for CMT disease in Turkey 
    Candayan, Ayşe. (Thesis (Ph.D.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2021., 2021.)
    Inherited peripheral neuropathies are a group of genetic disorders of the periph eral nervous system. The most common type is called Charcot-Marie-Tooth (CMT) disease that constitutes an interesting research focus due to ...
  • Is FGF1 acting as a promoter of remyelination in peripheral nervous system? 
    Özkan, Nazmiye. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2018., 2018.)
    Bidirectional and continuous communication between Schwann cells (SCs) and axons are crucial for peripheral nervous system (PNS) myelin development, maintenance, and repair after injury. Disruption of SCs-axon interaction ...
  • Molecular and cellular development of cortical projection neurons: specification, diversity, and directed differentiation from endogenous progenitors for functional circuit repair 
    Özkan, Abdulkadir. (Thesis (Ph.D.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2016., 2016.)
    Responsible for perception, integration of sensory information, cognitive function, motor control, and consciousness, the complex, yet highly organized, six-layered mammalian neocortex contains distinct classes of neurons. ...

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