Functional characterization of AVPR2 mutants found in Turkish patients with nephrogenic diabetes insipidus.

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.

Evaluation of Cytogenetic and Genotoxic Effects of Oxalic Acid by the Alkaline Comet Assay and QRT PCR in Human Buccal Epithelial Cells.

Objective: To evaluate the cytogenetic and genotoxic effects of oxalic acid.

Study Design: Buccal epithelial cells were obtained and cells were suspended in phosphate buffered saline. Increasing amounts of oxalic acids were added to cell suspensions and incubated in 37 degrees C, 5% CO2 for 30 minutes.

Identification of a Novel Deletion in AVP-NPII Gene in a Patient with Central Diabetes Insipidus.

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.

AVP-NPII gene mutations and clinical characteristics of the patients with autosomal dominant familial central diabetes insipidus.

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.

Association of VNTR polymorphisms in DRD4, 5-HTT and DAT1 genes with obesity.

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.

Promoter hypermethylation of p16 and APC in gastrointestinal cancer patients.

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.

Association of apolipoprotein E-219T>G promoter polymorphism with primary open angle glaucoma in Turkish population.

Aim: To investigate the association between apolipoprotein E (APOE) -219 T>G promoter polymorphism and primary open angle glaucoma (POAG).

Methods: Patients and healthy subjects were genotyped with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Genotype/allele frequencies were compared between 122 healthy subjects and in 75 POAG patients using Chi-square test.

Assessment of ER Stress and autophagy induced by ionizing radiation in both radiotherapy patients and ex vivo irradiated samples.

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.

A large deletion of the AVPR2 gene causing severe nephrogenic diabetes insipidus in a Turkish family.

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.

Investigation of DNA damage by the alkaline comet assay in 131I-treated thyroid cancer patients.

Objective: To assess the possible applicability of comet assay in the evaluation of DNA damage caused by ionizing radiation. The alkaline comet assay or single-cell gel electrophoresis has been used as a standard method for measuring and analyzing DNA damage.

Study Design: Peripheral blood samples were collected from papillary thyroid cancer patients who received 131I by oral administration.

Mutations in the AVPR2, AVP-NPII, and AQP2 genes in Turkish patients with diabetes insipidus.

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.

Poly(hydroxyethyl methacrylate) based affinity cryogel for plasmid DNA purification.

The aim of this study is to prepare supermacroporous pseudospecific cryogel which can be used for the purification of plasmid DNA (pDNA) from bacterial lysate. N-methacryloyl-(l)-histidine methyl ester (MAH) was chosen as the pseudospecific ligand and/or comonomer. Poly(hydroxyethyl methacrylate-N-methacryloyl-(l)-histidine methyl ester) [PHEMAH] cryogel was produced by free radical polymerization initiated by N,N,N',N'-tetramethylene diamine (TEMED) and ammonium persulfate (APS) pair in an ice bath.