Publications by authors named "Mergen H"

Article Synopsis
  • Aggregations of misfolded proteins are linked to various diseases, including a rare condition called Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) caused by mutations in the AVP-NPII gene leading to cellular dysfunction due to accumulated proteins in the endoplasmic reticulum (ER).
  • The study aimed to investigate the formation of amyloid-like aggregates from mutant precursor proteins linked to specific mutations found in ADNDI patients, examining factors such as glycosylation patterns and degradation pathways.
  • Results indicated that mutant precursors maintained their glycan structure, were involved in degradation pathways, formed oligomers, and demonstrated fibril formation in bacterial models, providing insights into the mechanisms underlying ADNDI.
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is a member of lactic acid bacteria that improves the quality of fermented foods while also having a positive impact on human health. In this study, F2 was studied for characteristics such as biochemical and genetic identification, metabolite production, antimicrobial activity, and plasmid content. This strain exerts antimicrobial activity against some Gram-positive and Gram-negative pathogens (, , , and ) with inhibition zone diameters ranging between 17.

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Objective: We aimed to evaluate the opinions of individuals aged 18 and above in our country regarding the use of artificial intelligence (AI) and robots in the field of healthcare.

Background: The growing population and patient load, coupled with increasing data, can expedite the diagnosis and treatment process for patients through faster, easier, and more accurate interpretation of information.

Methods: The study encompasses voluntary participants aged 18 and above, who have either undergone surgery in a hospital or have accompanied a family member during a surgical procedure and possess internet access as well as the capability to participate in online surveys.

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The human intestine is a habitat for microorganisms and, recently, the composition of the intestinal microbiota has been correlated with the etiology of diseases such as inflammations, sores, and tumors. Although many studies have been conducted to understand the composition of that microbiota, expanding these studies to more samples and different backgrounds will improve our knowledge. In this work, we showed the colon microbiota composition and diversity of healthy subjects, patients with inflammatory bowel disease (IBD), and colon cancer by metagenomic sequencing.

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Phlebotomus tobbi is a widely distributed sand fly species in Turkey and is the proven vector of Leishmania infantum and several Phleboviruses. Information regarding the genetic basis of phenotypic plasticity is crucial for managing vector-borne diseases, as the changing environmental conditions have consequences for the survival of arthropods and the disease agents they transmit. However, limited data is available on the impacts of environmental conditions on the traits associated with sand fly survival, reproduction, and vectorial competence.

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Early diagnosis and effective treatment of cancer are significant issues that should be focused on since it is one of the most deadly diseases. Multifunctional nanomaterials can offer new cancer diagnoses and treatment possibilities. These nanomaterials with diverse functions, including targeting, imaging, and therapy, are being studied extensively in a way that minimize overcoming the limitations associated with traditional cancer diagnosis and treatment.

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Purpose: Familial neurohypophyseal diabetes insipidus (FNDI), a rare disorder, which is clinically characterized by polyuria and polydipsia, results from mutations in the arginine vasopressin-neurophysin II (AVP-NPII) gene. The aim of this study was to perform functional analyses of three different mutations (p.G45C, 207_209delGGC, and p.

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We describe the rate and spectrum of spontaneous mutations for the social amoeba , a key model organism in molecular, cellular, evolutionary and developmental biology. Whole-genome sequencing of 37 mutation accumulation lines of after an average of 1,500 cell divisions yields a base-substitution mutation rate of 2.47 × 10 per site per generation, substantially lower than that of most eukaryotic and prokaryotic organisms, and of the same order of magnitude as in the ciliates and Known for its high genomic AT content and abundance of simple sequence repeats, we observe that base-substitution mutations in are highly A/T biased.

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Background The prevalence of obstructive sleep apnea (OSA) is high in the obese population. In this study, it was aimed to fulfill the STOP-Bang questionnaire which is a concise and easy-to-use questionnaire for OSA screening in obese patients. Materials & methods This is a retrospective study where the patients, who planned polysomnography, were referred to sleep clinic.

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Nephrogenic Diabetes Insipidus is a rare disorder which is characterized by severe water imbalance in the body. The disease can be acquired or inherited. AVPR2 (arginine vasopressin type 2 receptor) mutations are responsible for genetical type of the disorder.

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The water channel aquaporin 2 (AQP2) is responsible for water reabsorption by kidney collecting duct cells. A substitution of amino acid leucine 137 to proline in AQP2 (AQP2-L137P) causes Nephrogenic Diabetes Insipidus (NDI). This study aimed to determine the cell biological consequences of this mutation on AQP2 function.

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Background: One of the most important factors affecting the quality of life of chronic kidney disease (CKD) patients is nutrition. Prevention of malnutrition increases patients' quality and length of life. In this study, we aimed to determine the frequency of malnutrition, quality of life, and the relationship between them in patients with end-stage renal disease (ESRD).

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Objective: Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disorder characterized by a renal insensitivity to arginine vasopressin (AVP). In the majority of the cases, CNDI is caused by mutations in the arginine vasopressin receptor 2 () gene. Our objective is to report a novel mutation in the gene causing CNDI in a 6-year-old boy, presenting with growth failure and dull normal cognitive functions.

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Diabetes insipidus is a rare disorder characterized by an impairment in water balance because of the inability to concentrate urine. While central diabetes insipidus is caused by mutations in the , the reason for genetically determined nephrogenic diabetes insipidus can be mutations in or After release of AVP from posterior pituitary into blood stream, it binds to AVPR2, which is one of the receptors for AVP and is mainly expressed in principal cells of collecting ducts of kidney. Receptor activation increases cAMP levels in principal cells, resulting in the incorporation of AQP2 into the membrane, finally increasing water reabsorption.

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Objective: To prove reliability and validity of the Turkish version of diabetes distress scale.

Methods: The cross-sectional study was conducted at Tepecik Training and Research Hospital, Izmir, Turkey, from July 2011 to February 2012, and comprised diabetics whose ages ranged from 25 to 86 years who voluntarily participated in the study. Descriptive statistics, exploratory and confirmatory factor analyses were used for reliability and validity evaluations.

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Central Diabetes Insipidus (CDI) is caused by a deficiency of antidiuretic hormone and characterized by polyuria, polydipsia and inability to concentrate urine. Our objective was to present the results of the molecular analyses of AVP-neurophysin II (AVP-NPII) gene in a large familial neurohypophyseal (central) DI pedigree. A male patient and his family members were analyzed and the prospective clinical data were collected.

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Background: Familial central diabetes insipidus (DI), usually an autosomal dominant disorder, is caused by mutations in arginine vasopressin-neurophysin II (AVP-NPII) gene that leads to aberrant preprohormone processing and gradual destruction of AVP-secreting cells.

Objective: To determine clinical and molecular characteristics of patients with familial central DI from two different Turkish families.

Materials And Methods: The diagnosis of central DI was established by 24-h urine collection, water deprivation test, and desmopressin challenge.

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Objective: To assess levels of anxiety, depression, loneliness, burnout and job satisfaction among paediatric Residents, and how they influence each other.

Methods: The cross-sectional study was conducted at Necmettin Erbakan University, Meram, and Konya Meram Education and Research Hospital, Turkey from January to June 2011, and comprised paediatric Residents and their counterparts from other departments who formed the control group. While maintaining confidentiality, a questionnaire was used to collect data that had elements of the University of California, Los Angeles, Loneliness Scale, Hospital Anxiety and Depression Scale, Maslach Burnout Inventory and Minnesota Job Satisfaction Questionnaire.

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Objective: To investigate the association between VNTR polymorphisms of DRD4, DAT1 and 5-HTT genes and obesity.

Material And Methods: Peripheral blood samples of 234 obese (BMI ≥ 30) and 148 healthy individuals (BMI ≤ 25) were objected to PCR to detect the VNTR of the 2nd intron of 5-HTT, 3rd exon of DRD4 and 3'UTR of DAT1 genes.

Results: The association between obesity and genotype distributions of 5-HTT, DAT1 and DRD4 genes and between obesity and distributions of allele frequencies were tested by Chi Square (χ(2)) test and were not found statistically significant.

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Background/aims: Cancer is a consequence of the disruption of cellular regulation. Epigenetic is one of the reasons of this disruption. Epigenetic factors play a role in the carcinogenesis by affecting proto-oncogenes and tumor suppressor genes and it is one of the most popular research areas in recent years.

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Acute radiation leads to several toxic clinical states and triggers some molecular pathways. To shed light on molecular mechanisms triggered by ionizing radiation (IR), we examined the expression profiles of endoplasmic reticulum (ER) stress and autophagy-related genes in individuals who were exposed to IR. Blood samples were collected from 50 cancer patients before radiotherapy and on the 5th, 15th, and 25th days of the treatment.

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X-linked nephrogenic diabetes insipidus (NDI) is a rare hereditary disease caused by mutations in arginine vasopressin type 2 receptor (AVPR2) and characterized by the production of large amounts of urine and an inability to concentrate urine in response to the antidiuretic hormone vasopressin. We have identified a novel 388 bp deletion starting in intron 1 and ending in exon 2 in the AVPR2 gene in a patient with NDI and in his family. We have revealed that this mutation is a de novo mutation for the mother of the proband patient.

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The aim of this study was to identify mutations in three different genes, the arginine-vasopressin-neurophysin II (AVP-NPII) gene, the arginine-vasopressin receptor 2 (AVPR2) gene, and the vasopressin-sensitive water channel aquaporin-2 (AQP2) gene in Turkish patients affected by central diabetes insipidus or nephrogenic diabetes insipidus. This study included 15 patients from unrelated families. Prospective clinical data were collected for all patients including the patients underwent a water deprivation-desmopressin test.

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The aim of our study is to determine smoking behavior and its correlates among the faculty of education students. 2509 students, out of 3200, participated in the smoking questionnaire survey in the Faculty of Education of Celal Bayar University, in Manisa, Turkey at the beginning of 2007 educational year. General smoking percentage in school was 45.

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Objective: In this study, we sought to investigate the serum levels of high sensitivity C-reactive protein (Hs-CRP), N-terminal pro-brain natriuretic peptide (NT proBNP), erythrocyte sedimentation rate, leukocyte, thyroid hormone and fibrinogen levels in patients with coronary slow flow phenomenon (CSFP).

Methods: A total of 82 patients with angiographically proven normal coronary arteries and slow coronary flow in all three coronary vessels (45 males and 37 females, mean age 59±11 years) and 34 patients with normal coronary arteries and normal coronary flow (19 males and 15 females, mean age 56±10 years) with similar risk profiles were included in this cross-sectional observational study. Coronary flow rates of all patients and control subjects were documented by Thrombolysis In Myocardial Infarction (TIMI) frame count, serum level of Hs-CRP, NT proBNP, sedimentation, leukocyte, free triiodothyronine (FT3), free thyroxine (FT4), thyroid stimulating hormone (TSH) and fibrinogen levels were measured.

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