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Akin Yilmaz Sevda Menevse Yildirim Bayazit Recep Karamert Volkan Ergin Adnan Menevse 《Biochemical genetics》2010,48(3-4):248-256
Most nonsyndromic hearing losses are caused by mutations in the GJB2 gene, and studies have revealed that the forms and frequencies of these mutations are largely dependent on ethnic origin. In the present study, we aimed to characterize the mutation profiles of 151 patients with hearing loss in Turkey. The entire coding region of the GJB2 was directly sequenced in all patients. We found 35 (23.2%) individuals carrying GJB2 mutations. Seven different mutations were identified, five of which were previously known (35delG, delE120, R184P, M163V, L90P), the remaining two being novel variants (M34V, L205V). The most common mutation was 35delG followed by delE120. The 35delG mutation was homozygous in 22 cases (14.5%) and heterozygous in 4 cases (2.6%). Compound heterozygosity for 35delG was also observed. The delE120 mutation was found in three patients in homozygous form. A homozygous L90P and heterozygous mutations M163V and M34V were found in single cases. 相似文献
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Songül Boy Abdülmelik Aras Fikret Türkan Onur Akyıldırım Murat Beytur Halide Sedef Karaman Sevda Manap Haydar Yüksek 《化学与生物多样性》2021,18(12):e2100433
In the present study, 3-substitued-4-(4-hydroxybenzylidenamino)-4,5-dihydro-1H-1,2,4-triazol-5-ones ( S1-8 ) were synthesized by treating 4-hydroxybenzaldehyde ( B ) with eight different 3-substitued-4-amino-4,5-dihydro-1H-1,2,4-triazole-5-ones ( T1-8 ) in acetic acid medium, separately. The synthesized Schiff bases ( S ) were reacted with formaldehyde and secondary amine such as 4-piperidinecarboxyamide to afford novel heterocyclic bases. 3-Substitued-4-(4-hydroxybenzylidenamino)-4,5-dihydro-1H-1,2,4-triazol-5-ones ( T ) were treated with 4-piperidinecarboxyamide in the presence of formaldehyde to synthesize eight new 1-(4-piperidinecarboxyamide-1-yl - methyl)-3-substitued-4-(4-hydroxybenzylidenamino)-4,5-dihydro-1H-1,2,4-triazol-5-ones ( M1-8 ). The structure characterization of compounds was carried out using 1H-NMR, IR, HR-MS, and 13C-NMR spectroscopic methods. The inhibitory properties of the newly synthesized compounds were calculated against the acetylcholinesterase (AChE), butyrylcholinesterase (BChE), and glutathione S-transferase (GST) enzymes. Ki values were calculated in the range of 20.06±3.11–36.86±6.17 μM for GST, 17.87±2.91–30.53±4.25 μM for AChE, 9.08±0.69–20.02±2.88 μM for BChE, respectively, Besides, IC50 values were also calculated. Best binding scores of -inhibitors against used enzymes were calculated as −12.095 kcal/mol, −12.775 kcal/mol, and −9.336 kcal/mol, respectively. While 5-oxo-triazole piperidine-4-carboxamide moieties have a critical role in the inhibition of AChE and GST enzymes, hydroxy benzyl moiety is important for BChE enzyme inhibition. 相似文献
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BackgroundThe complete blood count (CBC) with differential leukocyte count (DLC) is one of the most common tests requested by physicians. The results of this test are affected by storage temperature and time of incubation. This study was designed to evaluate the stability of hematologic parameters in blood specimens stored for 48 h at three temperatures.MethodsK2-EDTA - blood was collected from 22 healthy adults. The CBC was performed using a hematology analyser immediately; 0 time point and at 4, 8, 12, 16, 20, 24, and 48 h after storage at 4 °C, 10 °C or 23 °C. Changes in values of CBC parameters from the 0 time point were determined and reported as % of the initial value.ResultsRed blood cells, platelet, hemoglobin, and mean corpuscular hemoglobin were found stable during 48 h storage at 4 °C, 10 °C or 23 °C. Hematocrite and mean corpuscular volume increased, while white blood cells decreased at 48 h when stored at 23 °C. Lymphocytes, neutrophils, eosinophils, and basophils showed significant differences after 12 h of storage at 23 °C.ConclusionsRed blood cells, platelet, hemoglobin, and mean corpuscular hemoglobin are the only suitable parameters without refrigeration during 24 h storage. When CBC and DLC are performed, 4 °C can be recommended as the most suitable storage temperature for 12 h storage. 相似文献
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Ozmen Cobanoglu Lou Delval Daniele Ferrari Lucie Deruyter Séverine Heumel Isabelle Wolowczuk Abir Hussein Ayse Nur Menevse David Bernard Philip Beckhove Frauke Alves François Trottein 《Aging cell》2023,22(12):e14007
The age-related decline in immunity reduces the effectiveness of vaccines in older adults. Immunosenescence is associated with chronic, low-grade inflammation, and the accumulation of senescent cells. The latter express Bcl-2 family members (providing resistance to cell death) and exhibit a pro-inflammatory, senescence-associated secretory phenotype (SASP). Preexisting senescent cells cause many aging-related disorders and therapeutic means of eliminating these cells have recently gained attention. The potential consequences of senescent cell removal on vaccine efficacy in older individuals are still ignored. We used the Bcl-2 family inhibitor ABT-263 to investigate the effects of pre-vaccination senolysis on immune responses in old mice. Two different ovalbumin (OVA)-containing vaccines (containing a saponin-based or a CpG oligodeoxynucleotide adjuvant) were tested. ABT-263 depleted senescent cells (apoptosis) and ablated the basal and lipopolysaccharide-induced production of SASP-related factors in old mice. Depletion of senescent cells prior to vaccination (prime/boost) had little effect on OVA-specific antibody and T-cell responses (slightly reduced and augmented, respectively). We then used a preclinical melanoma model to test the antitumor potential of senolysis before vaccination (prime with the vaccine and OVA boost by tumor cells). Surprisingly, ABT-263 treatment abrogated the vaccine's ability to protect against B16 melanoma growth in old animals, an effect associated with reduced antigen-specific T-cell responses. Some, but not all, of the effects were age-specific, which suggests that preexisting senescent cells were partly involved. Hence, depletion of senescent cells modifies immune responses to vaccines in some settings and caution should be taken when incorporating senolytics into vaccine-based cancer therapies. 相似文献
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The involvement of immune cells in prion capture and transport to lymphoid tissues still remains unclear. To investigate the role of dendritic cells (DC), we used DTR+/+ mice, a transgenic model designed to trigger short-term ablation of DC. Transient depletion of DC around the time of intraperitoneal infection delayed prion replication in the spleen, as followed by PrPsc amount, a specific hallmark of prion diseases. Consequently, neuroinvasion and incubation time of prion disease were delayed. In contrast, no differences were observed after oral infection. These results suggest that DC act as vectors for prions from the peripheral entry site to the spleen. 相似文献
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Tellioglu AT Menevse GT Uregen SE 《Plastic and reconstructive surgery》2007,119(3):1120-1; author reply 1122
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Aslan SC Randall DC Donohue KD Knapp CF Patwardhan AR McDowell SM Taylor RF Evans JM 《American journal of physiology. Regulatory, integrative and comparative physiology》2007,292(3):R1146-R1157
We investigated autonomic control of cardiovascular function in able-bodied (AB), paraplegic (PARA), and tetraplegic (TETRA) subjects in response to head-up tilt following spinal cord injury. We evaluated spectral power of blood pressure (BP), baroreflex sensitivity (BRS), baroreflex effectiveness index (BEI), occurrence of systolic blood pressure (SBP) ramps, baroreflex sequences, and cross-correlation of SBP with heart rate (HR) in low (0.04-0.15 Hz)- and high (0.15-0.4 Hz)-frequency regions. During tilt, AB and PARA effectively regulated BP and HR, but TETRA did not. The numbers of SBP ramps and percentages of heartbeats involved in SBP ramps and baroreflex sequences increased in AB, were unchanged in PARA, and declined in TETRA. BRS was lowest in PARA and declined with tilt in all groups. BEI was greatest in AB and declined with tilt in all groups. Low-frequency power of BP and the peak of the SBP/HR cross-correlation magnitude were greatest in AB, increased during tilt in AB, remained unchanged in PARA, and declined in TETRA. The peak cross-correlation magnitude in HF decreased with tilt in all groups. Our data indicate that spinal cord injury results in decreased stimulation of arterial baroreceptors and less engagement of feedback control as demonstrated by lower 1) spectral power of BP, 2) number (and percentages) of SBP ramps and barosequences, 3) cross-correlation magnitude of SBP/HR, 4) BEI, and 5) changes in delay between SBP/HR. Diminished vasomotion and impaired baroreflex regulation may be major contributors to decreased orthostatic tolerance following injury. 相似文献
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Sengul Yildizhan Sengul Hakan S. Bakim Bahadir Yucekaya Sevda K. Yucel Selma Akgun Mucella 《Sleep and biological rhythms》2015,13(1):76-84
Sleep and Biological Rhythms - Many studies have investigated the association between headache and sleep disorders, but few have focused on migraine. The goal of this study was to evaluate sleep... 相似文献
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