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Biochemical Genetics

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https://www.readbyqxmd.com/read/28324194/sex-differences-in-the-blood-concentration-of-tacrolimus-in-systemic-lupus-erythematosus-and-rheumatoid-arthritis-patients-with-cyp3a5-3-3
#1
Ayano Ito, Yuko Okada, Tadahiro Hashita, Tohru Aomori, Keiju Hiromura, Yoshihisa Nojima, Tomonori Nakamura, Takuya Araki, Koujirou Yamamoto
The purpose of this study was to describe the impact of sex and cytochrome P450 3A5 (CYP3A5) variant on the blood concentration of tacrolimus in patients with systemic lupus erythematosus or rheumatoid arthritis. The blood concentration of tacrolimus (ng/mL) divided by the daily dose of tacrolimus (mg/day) and the patient's weight (kg) (C/D) was obtained from 55 patients. The C/D value was analysed according to genetic variation in CYP3A5 or ATP binding cassette subfamily B member 1 (ABCB1), sex, and age. The C/D value in the CYP3A5*3/*3 group was significantly higher than in the CYP3A5*1/*1 and *1/*3 groups (p < 0...
March 21, 2017: Biochemical Genetics
https://www.readbyqxmd.com/read/28315020/novel-biomarkers-for-non-functioning-invasive-pituitary-adenomas-were-identified-by-using-analysis-of-micrornas-expression-profile
#2
Silin Wu, Ye Gu, Yuying Huang, Tyh-Chai Wong, Hailin Ding, Tengfei Liu, Yu Zhang, Xiaobiao Zhang
The microRNAs (miRNAs) are involved in multiple pathological processes among various types of tumors. However, the functions of miRNAs in benign brain tumors are largely unexplored. In order to explore the pathogenesis of the invasiveness in non-functional pituitary adenoma (NFPA), the miRNAs expression profile was analyzed between invasive and non-invasive non-functional pituitary adenoma by miRNAs microarray. Six most significant differentially expressed miRNAs were identified including four upregulated miRNAs hsa-miR-181b-5p, hsa-miR-181d, hsa-miR-191-3p, and hsa-miR-598 and two downregulated miRNAs hsa-miR-3676-5p and hsa-miR-383...
March 17, 2017: Biochemical Genetics
https://www.readbyqxmd.com/read/28303356/the-association-of-plasminogen-activator-inhibitor-type-1-pai-1-level-and-pai-1-4g-5g-gene-polymorphism-with-the-formation-and-the-grade-of-endometrial-cancer
#3
Malik Ejder Yıldırım, Savas Karakuş, Hande Küçük Kurtulgan, Hasan Kılıçgün, Serpil Erşan, Sevtap Bakır
Plasminogen activator inhibitor type 1 (PAI-1) is a serine protease inhibitor (Serpine 1), and it inhibits both tissue plasminogen activator and urokinase plasminogen activator which are important in fibrinolysis. We aimed to find whether there is a possible association between PAI-1 level, PAI-1 4G/5G polymorphism, and endometrial cancer. PAI-1 levels in peripheral blood were determined in 82 patients with endometrial carcinoma and 76 female healthy controls using an enzyme-linked immunoassay (ELISA). Then, the genomic DNA was extracted and screened by reverse hybridization procedure (Strip assay) to detect PAI 1 4G/5G polymorphism...
March 16, 2017: Biochemical Genetics
https://www.readbyqxmd.com/read/28243881/the-value-of-mir-383-an-intronic-mirna-as-a-diagnostic-and-prognostic-biomarker-in-intestinal-type-gastric-cancer
#4
Shirin Azarbarzin, Mohammad Ali Hosseinpour Feizi, Reza Safaralizadeh, Mina Kazemzadeh, Alavieh Fateh
MicroRNAs, a class of gene expression regulatory non-coding RNAs, participate in the pathogenic mechanisms of gastric cancer which is one of the life-treating cancers. Due to its aberrant expression in some types of human cancer, miR-383 has the value of being investigated in relation to cancer treatment and diagnosis. MiR-383 is placed in intron of SGCZ, a protein-coding gene, which is subject to dysregulation in various diseases. The purpose of the current study was to investigate the contribution of miR-383 to intestinal-type gastric adenocarcinoma tumorigenesis...
February 27, 2017: Biochemical Genetics
https://www.readbyqxmd.com/read/28188445/evaluation-of-some-phenological-and-biochemical-characteristics-of-selected-new-late-flowering-dried-apricot-cultivars
#5
Burhanettin İmrak, Ali Küden, Veyis Yurtkulu, Ebru Kafkas, Sezai Ercişli, Salih Kafkas
In this study, promising candidates of six apricot genotypes were compared with our local and major cultivar (Hacıhaliloğlu) based on their phenological, pomological, and biochemical characteristics. Fruit weight, stone weight, flesh firmness, flesh fruit/stone ratio, TSS (Total soluble solids), glucose, fructose, sucrose, total phenols, total antioxidant activity (FRAP and ABTS assays) and bud break, first bloom, full bloom, and harvesting date of apricot cultivar candidates were compared with cultivar Hacıhaliloğlu 'HH...
February 10, 2017: Biochemical Genetics
https://www.readbyqxmd.com/read/28097455/leptin-npy-melatonin-and-zinc-levels-in-experimental-hypothyroidism-and-hyperthyroidism-the-relation-to-zinc
#6
Abdulkerim Kasım Baltaci, Rasim Mogulkoc
Since zinc mediates the effects of many hormones or is found in the structure of numerous hormone receptors, zinc deficiency leads to various functional impairments in the hormone balance. And also thyroid hormones have important activity on metabolism and feeding. NPY and leptin are affective on food intake and regulation of appetite. The present study is conducted to determine how zinc supplementation and deficiency affect thyroid hormones (free and total T3 and T4), melatonin, leptin, and NPY levels in thyroid dysfunction in rats...
January 17, 2017: Biochemical Genetics
https://www.readbyqxmd.com/read/28093679/effect-of-single-nucleotide-polymorphisms-of-toll-like-receptor-4-tlr-4-on-reproductive-performance-and-immune-function-in-dairy-cows
#7
Takashi Shimizu, Yurie Kawasaki, Yuka Aoki, Fumie Magata, Chiho Kawashima, Akio Miyamoto
In dairy cows, inflammatory diseases caused by infection with pathogenic bacteria post calving affect ovarian functions. This study examined the relationship between single-nucleotide polymorphisms (SNPs) of Toll-like receptor 4 (TLR4), reproductive performances [the number of artificial insemination (AI) application and days open], and immune cell functions (apoptosis and migration). Two hundred Holstein cows from the Obihiro University farm were included. The SNPs of TLR4 were genotyped by PCR-restriction fragment length polymorphism (PCR-RFLP) method...
January 16, 2017: Biochemical Genetics
https://www.readbyqxmd.com/read/28070694/early-evaluation-and-monitoring-of-critical-patients-with-acute-respiratory-distress-syndrome-ards-using-specific-genetic-polymorphisms
#8
REVIEW
Florin G Horhat, Fuat Gundogdu, Laurentiu V David, Eugen S Boia, Laurentiu Pirtea, Razvan Horhat, Alexandru Cucui-Cozma, Ioana Ciuca, Mircea Diaconu, Razvan Nitu, Monica Licker, Delia I Horhat, Alexandru F Rogobete, Marius L Moise, Calin Tataru
A high percentage of critical patients are found to develop acute respiratory distress syndrome (ARDS). Several studies have reported high mortality rates in these cases which are most frequently associated with multiple organ dysfunctions syndrome. Lately, many efforts have been made to evaluate and monitor ARDS in critical patients. In this regard, the assessment of genetic polymorphisms responsible for developing ARDS present as a challenge and are considered future biomarkers. Early detection of the specific polymorphic gene responsible for ARDS in critically ill patients can prove to be a useful tool in the future, able to help decrease the mortality rates in these cases...
January 9, 2017: Biochemical Genetics
https://www.readbyqxmd.com/read/28070693/micrornas-expression-as-novel-genetic-biomarker-for-early-prediction-and-continuous-monitoring-in-pulmonary-cancer
#9
REVIEW
Razvan Nitu, Alexandru Florin Rogobete, Fuat Gundogdu, Sonia Tanasescu, Ovidiu Boruga, Adriana Sas, Sonia Elena Popovici, Delia Hutanu, Ciprian Pilut, Cristian Andrei Sarau, Adrian Constantin Candea, Adrian Tudor Stan, Liviu Marius Moise
One of the main causes of death in the world is lung cancer. According to the World Health Organization, the annual incidence of lung cancer increases significantly. Moreover, lung cancer accounts for one of the highest mortality rates, mainly due to late detection. Numerous studies have been conducted in order to identify new biomarkers for early diagnosis and for monitoring and evaluation of lung cancer stages. An ideal biomarker candidate is represented by the analysis of microRNAs expression. In this paper, we want to summarize microRNAs expressions in lung cancer...
January 9, 2017: Biochemical Genetics
https://www.readbyqxmd.com/read/27904983/vdbp-cyp27b1-and-25-hydroxyvitamin-d-gene-polymorphism-analyses-in-a-group-of-sicilian-multiple-sclerosis-patients
#10
L Agnello, C Scazzone, B Lo Sasso, C Bellia, G Bivona, S Realmuto, F Brighina, R Schillaci, P Ragonese, G Salemi, Marcello Ciaccio
Multiple sclerosis (MS) is a chronic demyelinating disease of central nervous system regarded as one of the most common causes of neurological disability in young adults. The exact etiology of MS is not yet known, although epidemiological data indicate that both genetic susceptibility and environmental exposure are involved. A poor vitamin D status has been proposed as the most attractive environmental factor. Several evidence have highlighted the importance of mutations in vitamin D-regulating genes for vitamin D status...
April 2017: Biochemical Genetics
https://www.readbyqxmd.com/read/27900488/additive-antiatherogenic-effects-of-cetp-rs708272-on-serum-ldl-subfraction-levels-in-patients-with-chd-under-statin-therapy
#11
Deniz Kanca, Uzay Gormus, Bengu Tokat, Allison P Eronat, Zehra Bugra, Oğuz Ozturk, Hulya Yilmaz-Aydogan
Recently, subfraction analysis of serum low density lipoprotein (LDL) is considered to be a better predictor of the risk of coronary heart disease (CHD) compared to the other lipid parameters. The aim of this study was to examine the effects of the HDL-associated Taq1B (rs708272) SNP of cholesterol ester transfer protein (CETP) gene on serum LDL subfractions in patients with CHD. Serum lipid levels were measured enzymatically and LDL subfraction analysis was carried out by the Lipoprint System (Quantimetrix, CA, USA)...
April 2017: Biochemical Genetics
https://www.readbyqxmd.com/read/27885437/association-of-stat5a-gene-variants-with-milk-production-traits-in-agerolese-cattle
#12
Maria Selvaggi, Sara Albarella, Cataldo Dario, Vincenzo Peretti, Francesca Ciotola
Two polymorphisms at STAT5A gene were investigated in a sample of Agerolese cows. The aims of the present study were to estimate the allele and genotype frequencies and to investigate the relationship among genotypes and milk production traits. Milk production traits were analyzed for each animal in the first, second, third, and fourth lactation. No genetic variability was found at STAT5A/AvaI locus. At STAT5A/MslI locus, the frequencies of T and C alleles were 0.875 and 0.125, respectively. Significant differences between genotypes were found: TT cow produced a milk with a higher content of fat and protein when compared with TC...
April 2017: Biochemical Genetics
https://www.readbyqxmd.com/read/27807680/genetics-of-congenital-heart-disease-past-and-present
#13
REVIEW
Iolanda Muntean, Rodica Togănel, Theodora Benedek
Congenital heart disease is the most common congenital anomaly, representing an important cause of infant morbidity and mortality. Congenital heart disease represents a group of heart anomalies that include septal defects, valve defects, and outflow tract anomalies. The exact genetic, epigenetic, or environmental basis of congenital heart disease remains poorly understood, although the exact mechanism is likely multifactorial. However, the development of new technologies including copy number variants, single-nucleotide polymorphism, next-generation sequencing are accelerating the detection of genetic causes of heart anomalies...
April 2017: Biochemical Genetics
https://www.readbyqxmd.com/read/27766440/the-effect-of-pleistocene-climate-fluctuations-on-distribution-of-european-abalone-haliotis-tuberculata-revealed-by-combined-mitochondrial-and-nuclear-marker-analyses
#14
Valérie Roussel, Alain Van Wormhoudt
The genetic differentiation among the populations of the European abalone Haliotis tuberculata was investigated using different markers to better understand the evolutionary history and exchanges between populations. Three markers were used: mitochondrial cytochrome oxidase I (COI), the sperm lysin nuclear gene, and eight nuclear microsatellites. These markers present different characteristics concerning mutation rate and inheritance, which provided complementary information about abalone history and gene diversity...
April 2017: Biochemical Genetics
https://www.readbyqxmd.com/read/27743221/gddom-an-online-tool-for-calculation-of-dominant-marker-gene-diversity
#15
Mazen Abuzayed, Nourhan El-Dabba, Anne Frary, Sami Doganlar
Gene diversity (GD), also called polymorphism information content, is a commonly used measure of molecular marker polymorphism. Calculation of GD for dominant markers such as AFLP, RAPD, and multilocus SSRs is valuable for researchers. To meet this need, we developed a free online computer program, GDdom, which provides easy, quick, and accurate calculation of dominant marker GD with a commonly used formula. Results are presented in tabular form for quick interpretation.
April 2017: Biochemical Genetics
https://www.readbyqxmd.com/read/27704307/association-of-the-common-catalase-gene-polymorphism-rs1001179-with-glycated-hemoglobin-and-plasma-lipids-in-hyperlipidemic-patients
#16
Antonis Goulas, Dimitrios Agapakis, Athanassios Apostolidis, Dimitra Gouda, Sotirios Anastassiadis, Christina Trakatelli, Christos Savopoulos, Apostolos I Hatzitolios
Catalase represents perhaps the most effective antioxidant defense in the body under conditions of increased oxidative stress, and rs1001179 (CAT-262C >T) is its most extensively studied gene polymorphism. Using an established PCR-RFLP method for genotyping, we examined the association of rs1001179 with glycated hemoglobin (HbA1c) and plasma lipids using univariate analyses with age, sex, body mass index (BMI), smoking, and alcohol abuse as covariates, in a group of dyslipidemic patients from northern Greece...
February 2017: Biochemical Genetics
https://www.readbyqxmd.com/read/27612681/the-use-of-exosomes-as-biomarkers-for-evaluating-and-monitoring-critically-ill-polytrauma-patients-with-sepsis
#17
REVIEW
Marian Ticlea, Lavinia Melania Bratu, Florian Bodog, Ovidiu Horea Bedreag, Alexandru Florin Rogobete, Zorin Petrisor Crainiceanu
Regarding genetic biomarkers for early assessment and monitoring the clinical course in polytrauma patients with sepsis, in recent years a remarkable evolution has been highlighted. One of the main representatives is the exosome miRNAs. In this paper, we would like to present in more details the various methods of using exosome miRNAs as a biomarker for monitoring polytrauma patients with sepsis, as well as establishing a belated outcome by aggregating the entire clinical aspects. The use of exosome miRNAs for late evaluating and monitoring the clinical evolution of polytrauma patients can bring significant improvements in current clinical practice through the optimization and modulation of intensive care according to the needs of each patient individually...
February 2017: Biochemical Genetics
https://www.readbyqxmd.com/read/27604272/molecular-characterization-of-cyclamen-species-collected-from-different-parts-of-turkey-by-rapd-and-srap-markers
#18
Ozhan Simsek, Pembe Curuk, Fatma Aslan, Melda Bayramoglu, Tolga Izgu, Jaime A Teixeira da Silva, Yildiz Aka Kacar, Yesim Yalcin Mendi
The genus Cyclamen (family Myrsinaceae) contains about 20 species, most of which occur in the Mediterranean region. Turkey has critically important Cyclamen genetic resources. Molecular characterization of plant materials collected from different regions of Turkey in which Cyclamen species grow naturally, namely Adana, Antalya, Aydın, Muğla, İzmir, Denizli, Kahramanmaraş, Osmaniye, Eskişehir, Trabzon, and Rize provinces, was performed using RAPD and SRAP markers. DNA was successfully amplified by 30 RAPD primers and 14 SRAP primer pairs...
February 2017: Biochemical Genetics
https://www.readbyqxmd.com/read/27586707/evaluation-of-5-ht7-receptor-trafficking-on-in-vivo-and-in-vitro-model-of-lipopolysaccharide-lps-induced-inflammatory-cell-injury-in-rats-and-lps-treated-a549-cells
#19
Gulsen Ayaz, Zekai Halici, Abdulmecit Albayrak, Emre Karakus, Elif Cadirci
This study aimed to investigate the effects of the 5-HT7 receptor agonist (LP44) and antagonist (SB269970) on LPS-induced in vivo tissue damage and cell culture by molecular methods. This study was conducted in two steps. For in vivo studies, 24 female rats were divided into four groups. Group I: healthy; II (2nd h): LPS 5 mg/kg administered intraperitoneally (i.p.); III (4th h): LPS 5 mg/kg administered i.p.; IV (8th h): LPS 5 mg/kg administered i.p. For in vitro studies, we used the A549 cell line. Groups: I control (healthy) (2-4 h); II LPS: 1 µg/ml E...
February 2017: Biochemical Genetics
https://www.readbyqxmd.com/read/27578295/in-vitro-functional-characterisation-of-cytochrome-p450-cyp-2c19-allelic-variants-cyp2c19-23-and-cyp2c19-24
#20
Pui Shen Lau, Kenny Voon Gah Leong, Chin Eng Ong, Amelia Nathania Hui Min Dong, Yan Pan
Cytochrome P450 (CYP) 2C19 is essential for the metabolism of clinically used drugs including omeprazole, proguanil, and S-mephenytoin. This hepatic enzyme exhibits genetic polymorphism with inter-individual variability in catalytic activity. This study aimed to characterise the functional consequences of CYP2C19*23 (271 G>C, 991 A>G) and CYP2C19*24 (991 A>G, 1004 G>A) in vitro. Mutations in CYP2C19 cDNA were introduced by site-directed mutagenesis, and the CYP2C19 wild type (WT) as well as variants proteins were subsequently expressed using Escherichia coli cells...
February 2017: Biochemical Genetics
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