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Biochemical Genetics

Kristel Klaassen, Maja Djordjevic, Anita Skakic, Lourdes R Desviat, Sonja Pavlovic, Belen Perez, Maja Stojiljkovic
Treatment with tetrahydrobiopterin (BH4) is the latest therapeutic option approved for patients with phenylketonuria (PKU)-one of the most frequent inborn metabolic diseases. PKU or phenylalanine hydroxylase (PAH) deficiency is caused by mutations in the PAH gene. Given that some PAH mutations are responsive to BH4 treatment while others are non-responsive, for every novel mutation that is discovered it is essential to confirm its pathogenic effect and to assess its responsiveness to a BH4 treatment in vitro, before the drug is administered to patients...
April 13, 2018: Biochemical Genetics
Shahriar Tarighi, Behnam Alipoor, Ali Zare, Hamid Ghaedi, Mehrnoosh Shanaki
Recent genome-wide association studies (GWAS) identified a list of single-nucleotide polymorphisms (SNPs) associated with coronary artery disease (CAD). Replication of GWAS findings in different population corroborated the observed association in the parent GWAS. In this study, we aimed to replicate the association of rs1870634, a GWAS identified SNP, to CAD in an Iranian population. The study population consisted of 267 subjects undergoing coronary angiography coronary angiography including 155 CAD patients and 112 non-CAD age- and gender-matched controls...
April 13, 2018: Biochemical Genetics
Bijan Keikhaei, Pejman Slehi-Fard, Gholamreza Shariati, Abbas Khosravi
Alpha thalassemia is the most prevalent monogenic gene disorder in the world, especially in Mediterranean countries. In the current hematological phenotype of patients with different genotypes, the effects of missense mutations on the protein function and also stability were evaluated in a large cohort study. A total of 1,560 subjects were enrolled in the study and divided into two groups: 259 normal subjects; and 1301 alpha-thalassemia carriers. Genomic DNA was extracted and analyzed using ARMS PCR, Multiplex Gap, and direct sequencing...
April 7, 2018: Biochemical Genetics
Ravi Padma-Malini, Chinniah Rathika, Sivanadham Ramgopal, Vijayan Murali, Pannerselvam Dharmarajan, Subramanian Pushkala, Karuppiah Balakrishnan
The aim of present study was to elucidate the association of CTLA4 +49 A/G and HLA-DRB1*/DQB1* gene polymorphism in south Indian T1DM patients. The patients and controls (n = 196 each) were enrolled for CTLA4 and HLA-DRB1*/DQB1* genotyping by RFLP/PCR-SSP methods. The increased frequencies of CTLA4 'AG' (OR = 1.99; p = 0.001), 'GG' (OR = 3.94; p = 0.001) genotypes, and 'G' allele (OR = 2.42; p = 9.26 × 10-8 ) were observed in patients. Reduced frequencies of 'AA' (OR = 0...
March 30, 2018: Biochemical Genetics
Mohamed Moustafa Rizk, Eman Tayae Elsayed, Ahmed Fathi ElKeraie, Ireny Ramzy
Lupus nephritis (LN) is a major cause of morbidity and mortality in systemic lupus erythematosus (SLE). Previous studies suggest that mutant A20 binding inhibitor of NF-κB 1 (ABIN1) protein encoded by tumor necrosis factor alpha-induced protein 3 interacting protein 1 (TNIP1) gene is associated with LN via NF-κB dysregulation. The aim of the current study was to evaluate the association of TNIP1 gene SNP rs7708392 with SLE and LN in Egyptian patients. 5' nuclease Allelic discrimination was used to evaluate the frequency of TNIP1 SNP rs7708392 in 53 patients with LN, 57 SLE patients without nephritis and 85 healthy controls...
March 27, 2018: Biochemical Genetics
Kateryna Kotsarenko, Valentyna Lylo, Tetiana Ruban, Larysa Macewicz, Lyubov Lukash
The inducible repair enzyme O6 -methylguanine-DNA methyltransferase (MGMT) eliminates O6 -methylguanine adducts in DNA and protects the cells from damaging effects of alkylating agents. We have found that anti-MGMT antibodies recognize both the MGMT protein with a mol. weight ~ 24 kDa and a protein with a mol. weight ~ 48 kDa, which was named MARP (anti-methyltransferase antibody recognizable protein). A number of growth factors and cytokines were shown to regulate the expression of MGMT and MARP proteins...
March 27, 2018: Biochemical Genetics
Jiawei Xu, Teng Wang, Zhiyang Su, Xinyao Zhou, Yuqian Xiang, Lin He, Candong Li, Zhaoyang Yang, Xinzhi Zhao
The μ-opioid receptor (OPRM1) plays an important role in opiate addiction. The OPRM1 gene promoter showed hypermethylation in lymphocytes of opiate addicts as well as opioid medications users, while the methylation status displayed ethnic diversity. The purpose of the study was to investigate the methylation pattern of OPRM1 promoter in the Han Chinese population. We analyzed 22 CpG sites located in OPRM1 promoter in 186 former opiate addicts (94 males and 92 females) and 184 healthy controls (102 males and 82 females)...
March 21, 2018: Biochemical Genetics
Xiao-Long Dong, Cai-Xia Pan, Min-Juan Zhang
Carotenoids are the precursors of Vitamin A. They are cleaved by carotenoid oxygenase and then isomerized by retinoid isomerase. In this study, we identified a gene, Bombyx mori Carotenoid Oxygenases and Retinal Isomerase (BmCORI), which was the homolog of β-carotene 15,15'-monooxygenase and the retinal pigment epithelium protein of 65 kD. Further analysis indicated that the expression of BmCORI in silkworms was significantly higher in females than in males. We also found that the β-carotene content in BmCORI-expressed human embryonic kidney 293 cells was significantly lower than in the controls, while the lutein content showed a slight difference...
March 13, 2018: Biochemical Genetics
Shweta Lawania, Navneet Singh, Digambar Behera, Siddharth Sharma
The present study investigated the role of Xeroderma pigmentosum group A (XPA) polymorphism (A23G and G709A) with lung cancer risk and its association with overall survival in North Indians. 370 cases and 370 controls were investigated to evaluate association between XPA polymorphism (A23G and G709A) with lung cancer risk using logistic regression analysis. A follow-up study was also conducted for 291 lung cancer cases illustrating correlation between overall survival in lung cancer patients and XPA variants...
March 7, 2018: Biochemical Genetics
Surendra Neupane, Qin Ma, Febina M Mathew, Adam J Varenhorst, Ethan J Andersen, Madhav P Nepal
Disease-resistant genes (R genes) encode proteins that are involved in protecting plants from their pathogens and pests. Availability of complete genome sequences from soybean and common bean allowed us to perform a genome-wide identification and analysis of the Toll interleukin-1 receptor-like nucleotide-binding site leucine-rich repeat (TNL) proteins. Hidden Markov model (HMM) profiling of all protein sequences resulted in the identification of 117 and 77 regular TNL genes in soybean and common bean, respectively...
March 2, 2018: Biochemical Genetics
Narjes Tabkhkar, Babak Rabiei, Habibollah Samizadeh Lahiji, Maryam Hosseini Chaleshtori
Drought is one of the major abiotic stresses, which hampers the production of rice worldwide. Informative molecular markers are valuable tools for improving the drought tolerance in various varieties of rice. The present study was conducted to evaluate the informative simple sequence repeat (SSR) markers in a diverse set of rice genotypes. The genetic diversity analyses of the 83 studied rice genotypes were performed using 34 SSR markers closely linked to the major quantitative trait loci (QTLs) of grain yield under drought stress (qDTYs)...
February 24, 2018: Biochemical Genetics
Elisabete F Dias, Norbert Kilian, Luís Silva, Hanno Schaefer, Mark Carine, Paula J Rudall, Arnoldo Santos-Guerra, Mónica Moura
The phylogenetic relationships and phylogeography of two relatively rare Macaronesian Lactuca species, Lactuca watsoniana (Azores) and L. palmensis (Canary Islands), were, until this date, unclear. Karyological information of the Azorean species was also unknown. For this study, a chromosome count was performed and L. watsoniana showed 2n = 34. A phylogenetic approach was used to clarify the relationships of the Azorean endemic L. watsoniana and the La Palma endemic L. palmensis within the subtribe Lactucinae...
February 24, 2018: Biochemical Genetics
Bo Gao, Wei Wang, Han Wu, Cai Chen, Dan Shen, Saisai Wang, Wei Chen, Li Zhang, Shuheng Chan, Chengyi Song
Insulin-like growth factor (IGF-I) is an important growth factor in mammals, but the functions of the local muscle-specific isoform of insulin-like growth factor 1 (mIGF-1) to skeletal muscle development have rarely been reported. To determine the effect of pig mIGF-1 on body development and muscle deposition in vivo and to investigate the molecular mechanisms, the transgenic mouse model was generated which can also provide experimental data for making transgenic pigs with pig endogenous IGF1 gene. We constructed a skeletal muscle-specific expression vector using 5'- and 3'-regulatory regions of porcine skeletal α-actin gene...
February 22, 2018: Biochemical Genetics
Menha Swellam, Maha Hashim, Magda Sayed Mahmoud, Amal Ramadan, Naglaa M Hassan
Acute lymphoblastic leukemia (ALL) is a heterogeneous cancer commonly affecting children due to dysregulation of miRNA expression. In the current study, authors investigated the expression profile for miRNA-125b-1 and miRNA-203 among childhood ALL. Blood samples were collected from newly diagnosed childhood ALL and healthy control children. The expression profile for candidate miRNAs was detected using quantitative RT-PCR analysis. Statistical analysis were performed using receiver operating characteristic curve (ROC) to examine the diagnostic efficacy of the two miRNA and their levels among ALL clinicopathological factors and phenotypes...
February 19, 2018: Biochemical Genetics
Saurabh Yadav, Abhijit Chandra, Ashok Kumar, Balraj Mittal
Gallbladder carcinoma (GBC) is one of the common malignancy of the biliary tract. Several genome wide and candidate gene studies have reported associations between multiple cancer types and single-nucleotide polymorphisms on 5p15.33 and 8q24.21 loci. However, predisposition potential of these genetic variants has not been assessed in GBC. We performed the present study to assess the potential of five polymorphisms on 5p15.33 and one on 8q24.21 locus in GBC risk and treatment response in patients undergoing chemoradiotherapy...
February 15, 2018: Biochemical Genetics
Luís Silva
No abstract text is available yet for this article.
February 14, 2018: Biochemical Genetics
Divya Mishra, Kiranmala Naorem, Kallur Nava Saraswathy
Studies have investigated the association between angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism and cardiometabolic risk factors (CMRFs), however with varying results, which could be due to ethnicity differences. Therefore, the present study was conducted among Bhil tribal population (a mendelian population with the common gene pool and same sociocultural attributes), residing in two different environmental settings. The study attempts to understand the distribution and extent of association of ACE I/D gene polymorphism with cardiometabolic risk factors among Bhils from rural and urban settings...
February 13, 2018: Biochemical Genetics
Masumeh Maleki Behzad, Saeid Shahrabi, Kaveh Jaseb, Jessika Bertacchini, Neda Ketabchi, Najmaldin Saki
Chronic myeloid leukemia (CML) is a hematopoietic stem cell malignancy characterized by the expression of the BCR-ABL1 fusion gene with different chimeric transcripts. Despite the crucial impact of constitutively active tyrosine kinase in CML pathogenesis, aberrant DNA methylation of certain genes plays an important role in disease progression and the development of drug resistance. This article reviews recent findings relevant to the effect of DNA methylation pattern of regulatory genes on various cellular activities such as cell proliferation and survival, as well as cell-signaling molecules in CML...
January 31, 2018: Biochemical Genetics
Juan Hao, Kaili Jiao, Chenliang Yu, Hong Guo, Yujia Zhu, Xiao Yang, Siyang Zhang, Lei Zhang, Shangguo Feng, Yaobin Song, Ming Dong, Huizhong Wang, Chenjia Shen
Taxus media is an important species in the family Taxaceae with high medicinal and commercial value. Overexploitation and illegal trade have led T. media to a severe threat of extinction. In addition, T. media and other Taxus species have similar morphological traits and are easily misidentified, particularly during the seedling stage. The purpose of this study is to develop a species-specific marker for T. media. Through a screening of 36 start codon targeted (SCoT) polymorphism primers, among 15 individuals of 4 Taxus species (T...
January 31, 2018: Biochemical Genetics
Niraj Singh, Ashish K Pal, R K Roy, S K Tewari, Sushma Tamta, T S Rana
Estimation of variability and genetic relationships among breeding materials is one of the important strategies in crop improvement programs. Morphological (plant height, spike length, a number of florets/spike), physiological (chlorophyll content, chlorophyll fluorescence, and rapid light curve parameters) and Directed amplification of minisatellite DNA (DAMD) markers were used to investigate the relationships among 50 Gladiolus cultivars. Cluster analysis based on morphological data, physiological characteristics, molecular markers, and cumulative data discriminated all cultivars into seven, five, seven, and six clusters in the unweighted pair-group method using arithmetic mean (UPGMA) dendrogram, respectively...
April 2018: Biochemical Genetics
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