G proteinleri bağlayan moleküllerin ligand seçiciliklerinin SVM yöntemiyle belirlenmesi

G proteinleriyle birlikte çal

Prenatal Expressions of Hyperpolarization-activated Cyclic-Nucleotide-Gated Channel (HCN) Genes in Dysplastic Hippocampi in Rats

AIM: Hyperpolarization-activated cyclic nucleotide-gated (HCN or h-channel) channels mediate hyperpolarization-activating currents in the hippocampus and neocortex. The aim of this study is to present prenatal h-channel gene expressions (HCN1 and HCN2; HCN1-Entrez-Gene ID: 84390; HCN2- Entrez Gene ID: 114244) in dysplastic hippocampal pyramidal neurons induced by in utero irradiation in rats

Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database

The last decade has proven that amyotrophic lateral sclerosis (ALS) is clinically and genetically heterogeneous, and that the genetic component in sporadic cases might be stronger than expected. This study investigates 1,200 patients to revisit ALS in the ethnically heterogeneous yet inbred Turkish population. Familial ALS (fALS) accounts for 20% of our cases. The rates of consanguinity are 30% in fALS and 23% in sporadic ALS (sALS). Major ALS genes explained the disease cause in only 35% of fALS, as compared with similar to 70% in Europe and North America. Whole exome sequencing resulted in a discovery rate of 42% (53/127). Whole genome analyses in 623 sALS cases and 142 population controls, sequenced within Project MinE, revealed well-established fALS gene variants, solidifying the concept of incomplete penetrance in ALS. Genome-wide association studies (GWAS) with whole genome sequencing data did not indicate a new risk locus. Coupling GWAS with a coexpression network of disease-associated candidates, points to a significant enrichment for cell cycle- and division-related genes. Within this network, literature text-mining highlightsDECR1, ATL1, HDAC2, GEMIN4, andHNRNPA3as important genes. Finally, information on ALS-related gene variants in the Turkish cohort sequenced within Project MinE was compiled in the GeNDAL variant browser (www.gendal.org).Bogazici University; Suna and Inan Kirac Foundatio

Project MinE : study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

The most recent genome-wide association study in amyotrophic lateral sclerosis (ALS) demonstrates a disproportionate contribution from low-frequency variants to genetic susceptibility to disease. We have therefore begun Project MinE, an international collaboration that seeks to analyze whole-genome sequence data of at least 15 000 ALS patients and 7500 controls. Here, we report on the design of Project MinE and pilot analyses of successfully sequenced 1169 ALS patients and 608 controls drawn from the Netherlands. As has become characteristic of sequencing studies, we find an abundance of rare genetic variation (minor allele frequency < 0.1%), the vast majority of which is absent in public datasets. Principal component analysis reveals local geographical clustering of these variants within The Netherlands. We use the whole-genome sequence data to explore the implications of poor geographical matching of cases and controls in a sequence-based disease study and to investigate how ancestry-matched, externally sequenced controls can induce false positive associations. Also, we have publicly released genome-wide minor allele counts in cases and controls, as well as results from genic burden tests

Prevalence and predictors of gestational diabetes mellitus: a nationwide multicentre prospective study

Cetinkaya, Esra/0000-0003-2415-1236; Taskiran, Bengur/0000-0003-4842-450X; MELEKOGLU, RAUF/0000-0001-7113-6691; pekkolay, zafer/0000-0002-5323-2257; Ozer, Alev/0000-0002-0934-0226; kilinc, faruk/0000-0002-0198-2558; Aygun, Elif Ganime/0000-0003-3737-7250; KARAKILIC, ERSEN/0000-0003-3590-2656; Aydin, Hasan/0000-0003-4246-0681WOS: 000457530200011PubMed: 30402933Aim Prevalence rates of gestational diabetes mellitus (GDM) show considerable variation among different countries and regions of the world. The primary aim of this study was to determine the nationwide prevalence and predictors of GDM in Turkey. Methods We conducted prospective nationwide screening among pregnant women. Between August 2016 and November 2017, a total of 2643 pregnant women from 51 centres in 12 different regions were enrolled. A two-step screening method and Carpenter and Coustan criteria were used in the diagnosis of GDM. Clinical and biochemical data were obtained using electronic database software. Results The national prevalence of GDM was found to be 16.2% [95% confidence intervals (CI) 15.0% to 17.4%] without a significant difference between urban and rural regions. Women with GDM were older (mean age: 32 +/- 5 vs. 28 +/- 5 years, P < 0.001) and heavier (mean BMI: 27.2 +/- 5.1 vs. 24.7 +/- 4.7 kg/m(2), P < 0.001) than their counterparts without GDM. The prevalence of GDM tended to increase with age (< 25 years, 6.9%; 26-35 years, 15.6%; and 36-45 years, 32.7%; P < 0.001). Maternal age, maternal BMI, history of previous GDM and family history of diabetes mellitus were independent predictors of developing GDM (P < 0.05 for all). Low-risk women (age < 25 years, BMI < 25 kg/m(2), no family history of diabetes) comprised 10.7% of the total population and the prevalence of GDM in these women was 4.5% (95% CI 2.4% to 7.8%). Conclusion The results of this nationwide study indicate that GDM is very common, affecting one in seven pregnancies in Turkey. Implementation of international guidelines on screening and management of this public health problem is required