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    Autosomal recessive variants in TUBGCP2 alter the ?-tubulin ring complex leading to neurodevelopmental disease
    (Cell Press, 2021) Gungor, Serdal; Oktay, Yavuz; Hiz, Semra; Aranguren-Ibanez, Alvaro; Kalafatcilar, Ipek; Yaramis, Ahmet; Karaca, Ezgi
    Microtubules help building the cytoskeleton of neurons and other cells. Several components of the gamma-tubulin (gamma-tubulin) complex have been previously reported in human neurodevelopmental diseases. We describe two siblings from a consanguineous Turkish familywith dysmorphic features, developmental delay, brain malformation, and epilepsy carrying a homozygous mutation (p.Glu311Lys) in TUBGCP2 encoding the gamma-tubulin complex 2 (GCP2) protein. This variant is predicted to disrupt the electrostatic interaction of GCP2 with GCP3. In primary fibroblasts carrying the variant, we observed a faint delocalization of gamma-tubulin during the cell cycle but normal GCP2 protein levels. Through mass spectrometry, we observed dysregulation of multiple proteins involved in the assembly and organization of the cytoskeleton and the extracellular matrix, controlling cellular adhesion and of proteins crucial for neuronal homeostasis including axon guidance. In summary, our functional and proteomic studies link TUBGCP2 and the gamma-tubulin complex to the development of the central nervous system in humans.
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    Inflammation and anemia in simple febrile seizures and complex febrile seizures
    (2021) Polat, Ipek; Karaoglu, Pakize; Ayanoglu, Muge; Cirali, Ceren; Bayram, Erhan; Yis, Uluc; Hiz, Semra
    Aim: This is a unique study that aimed to determine anemia and inflammatory status in simple febrile seizure vs complex febrile seizure patients. Neutrophil/lymphocyte ratio and platelet/lymphocyte ratio are positively correlated with inflammatory markers including TNF alpha and IL-6. They are practical, inexpensive, and valuable tools for evaluating inflammation. Materials and Methods: Patients presenting with first febrile seizures were enrolled retrospectively. We investigated hemoglobin, hematocrit, mean corpuscular volume, mean corpuscular hemoglobin concentration and red blood cell distribution width values and white blood cell count, neutrophil, lymphocyte count, neutrophil/lymphocyte ratio, platelet/lymphocyte ratio, and mean platelet volume, C - reactive protein. Results: Our study showed that higher neutrophil/lymphocyte ratio, platelet/lymphocyte ratio, and lower mean platelet volume values in complex febrile seizure cases than simple febrile seizure cases. We determined cut-off values for neutrophil/lymphocyte ratio, platelet/lymphocyte ratio, and mean platelet volume of 2.5, 10523.3, and 7.3 respectively. Conclusion: High neutrophil/lymphocyte ratio, platelet/lymphocyte ratio, and low mean platelet volume values can help distinguish simple febrile seizure and complex febrile seizure patients and predict the clinic. The optimal cut-off values that we determined may guide clinicians.
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    y COL4A1-related autosomal recessive encephalopathy in 2 Turkish children
    (Lippincott Williams & Wilkins, 2020) Yaramis, Ahmet; Lochmueller, Hanns; Topf, Ana; Sonmezler, Ece; Yilmaz, Elmasnur; Hiz, Semra; Yis, Uluc
    Objective This study presents the neurologic phenotypes of 2 brothers with a novel homozygous COL4A1 mutation that was identified in a large Turkish consanguineous cohort of neurogenetic diseases. Methods Whole-exome sequencing and bioinformatic analysis of consanguineous families with children affected by early-onset, neurogenetic disorders was performed using the RD-Connect Genome-Phenome Analysis Platform. We also performed clinical, EEG, and neuroimaging analyses in unaffected siblings and parents. Results We have identified a homozygous missense mutation in COL4A1 (p.Gly1278Ser, NM_ 001845.5:c.3832G>T) in 2 siblings affected by small vessel brain disease with periventricular leukoencephalopathy and ocular defects. Presenting symptoms included mild weakness, hemiparetic gait, pyramidal findings, and seizures, whereas their intellectual and behavioral functions were normal. Both parents and 5 of the siblings (3 boys and 2 girls) were heterozygous for the variant. They did not show any clinical or laboratory signs of small vessel disease. Conclusions COL4A1 has previously been associated with dominant small vessel disease of the brain and other organs, manifesting with high penetrance in heterozygous mutation carriers. Our findings provide evidence that COL4A1-related encephalopathy can be inherited in an autosomal recessive manner, which is important for counseling, prognosis, and treatment. Genotypephenotype correlations remain to be established.