keyword
MENU ▼
Read by QxMD icon Read
search

Genetic code

keyword
https://www.readbyqxmd.com/read/29469189/incorporation-of-gsta1-genetic-variations-into-a-population-pharmacokinetic-model-for-iv-busulfan-in-paediatric-hematopoietic-stem-cell-transplantation
#1
T Nava, N Kassir, M A Rezgui, C R S Uppugunduri, P Huezo-Diaz Curtis, M Duval, Y Théoret Y, L E Daudt, C Litalien, M Ansari, M Krajinovic, H Bittencourt
AIMS: To develop a population pharmacokinetic (PopPK) model for intravenous busulfan in children that incorporates variants of GSTA1, gene coding for the main enzyme in busulfan imetabolism. METHODS: Busulfan concentration-time data was collected from 112 children and adolescents (median 5.4 years old, range: 0.1 to 20) who received intravenous busulfan during the conditioning regimen prior to stem cell transplantation. Weight, sex, baseline disease (malignant vs...
February 22, 2018: British Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/29468350/a-novel-mef2c-loss-of-function-mutation-associated-with-congenital-double-outlet-right-ventricle
#2
Cai-Xia Lu, Wei Wang, Qian Wang, Xing-Yuan Liu, Yi-Qing Yang
Congenital heart defect (CHD) represents the most prevalent birth defect, and accounts for substantial morbidity and mortality in humans. Aggregating evidence demonstrates the genetic basis for CHD. However, CHD is a heterogeneous disease, and the genetic determinants underlying CHD in most patients remain unknown. In the present study, a cohort of 186 unrelated cases with CHD and 300 unrelated control individuals were recruited. The coding exons and flanking introns of the MEF2C gene, which encodes a transcription factor crucial for proper cardiovascular development, were sequenced in all study participants...
February 21, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29468337/psychosocial-impact-of-a-positive-gene-result-for-asymptomatic-relatives-at-risk-of-hypertrophic-cardiomyopathy
#3
Carissa Bonner, Catherine Spinks, Christopher Semsarian, Alex Barratt, Jodie Ingles, Kirsten McCaffery
Families with a history of hypertrophic cardiomyopathy (HCM) may be offered genetic testing in addition to clinical surveillance. Asymptomatic family members who are gene positive (silent gene carriers) represent a new group of "patients" who may not develop HCM, with little evidence available to assist clinical management. This study explored experiences of HCM genetic testing to identify potential benefits and harms. Thirty-two individuals previously offered genetic testing for HCM were recruited...
February 22, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29467647/identification-of-a-novel-hemizygous-sqstm1-nonsense-mutation-in-atypical-behavioral-variant-frontotemporal-dementia
#4
Lin Sun, Zhouyi Rong, Wei Li, Honghua Zheng, Shifu Xiao, Xia Li
Frontotemporal dementia includes a large spectrum of neurodegenerative disorders. SQSTM1 , coding for p62 protein, plays a vital role in the pathogenesis of FTD. Here, we report a case of a female patient with SQSTM1 mutation S224X, who was 59 years old when she initially exhibited memory decline, mild personality changes, and subtle atrophy of frontal/temporal lobes in magnetic resonance imaging (MRI). Genetic testing revealed a nonsense mutation of the SQSTM1 gene (S224X), resulting in premature termination of protein synthesis and a predicted truncated protein 217 amino acids shorter than the normal protein...
2018: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/29467190/examination-of-signatures-of-recent-positive-selection-on-genes-involved-in-human-sialic-acid-biology
#5
Jiyun M Moon, David M Aronoff, John A Capra, Patrick Abbot, Antonis Rokas
Sialic acids are nine carbon sugars ubiquitously found on the surfaces of vertebrate cells and are involved in various immune response-related processes. In humans, at least 58 genes spanning diverse functions, from biosynthesis and activation to recycling and degradation, are involved in sialic acid biology. Because of their role in immunity, sialic acid biology genes have been hypothesized to exhibit elevated rates of evolutionary change. Consistent with this hypothesis, several genes involved in sialic acid biology have experienced higher rates of non-synonymous substitutions in the human lineage than their counterparts in other great apes, perhaps in response to ancient pathogens that infected hominins millions of years ago (paleopathogens)...
February 21, 2018: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29467187/-drosophila-larval-brain-neoplasms-present-tumour-type-dependent-genome-instability
#6
Fabrizio Rossi, Camille Stephan-Otto Attolini, Jose Luis Mosquera, Cayetano Gonzalez
Single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) are found at different rates in human cancer. To determine if these genetic lesions appear in Drosophila tumours we have sequenced the genomes of 17 malignant neoplasms caused by mutations in l(3)mbt, brat, aurA , or lgl We have found CNVs and SNPs in all the tumours. Tumour-linked CNVs range between 11 and 80 per sample, affecting between 92 and 1546 coding sequences. CNVs are in average less frequent in l(3)mbt than in brat lines. Nearly half of the CNVs fall within the 10 to 100Kb range, all tumour samples contain CNVs larger that 100 Kb and some have CNVs larger than 1Mb...
February 21, 2018: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29465286/genetic-association-of-single-nucleotide-polymorphisms-of-fzd4-and-bdnf-genes-with-retinopathy-of-prematurity
#7
Zora Lasabova, Andrea Stanclova, Marian Grendar, Silvia Mikolajcikova, Andrea Calkovska, Nina Lenhartova, Peter Ziak, Katarina Matasova, Martin Caprnda, Peter Kruzliak, Mirko Zibolen
BACKGROUND: Retinopathy of prematurity (ROP) is a multifactorial disease occurring in preterm neonates, caused by incorrect development of retinal blood vessels. It has been suggested that, in addition to gestational age, weight, and oxygen supplementation, genetic factors can play a role in the pathogenesis of ROP. METHODS: In the present prospective study, 97 neonates were enrolled based on the gestational age and weight, and genomic DNA from patients diagnosed with ROP and premature newborns without ROP was collected...
February 21, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29464939/genome-analysis-of-two-novel-pseudomonas-strains-exhibiting-differential-hypersensitivity-reactions-on-tobacco-seedlings-reveals-differences-in-nonflagellar-t3ss-organization-and-predicted-effector-proteins
#8
Caetanie F Tchagang, Renlin Xu, Cyr Lézin Doumbou, James T Tambong
Multilocus sequence analysis (MLSA) of two new biological control strains (S1E40 and S3E12) of Pseudomonas was performed to assess their taxonomic position relative to close lineages, and comparative genomics employed to investigate whether these strains differ in key genetic features involved in hypersensitivity responses (HRs). Strain S3E12, at high concentration, incites HRs on tobacco and corn plantlets while S1E40 does not. Phylogenies based on individual genes and 16S rRNA-gyrB-rpoB-rpoD concatenated sequence data show strains S1E40 and S3E12 clustering in distinct groups...
February 21, 2018: MicrobiologyOpen
https://www.readbyqxmd.com/read/29464044/the-transcriptional-and-mutational-landscapes-of-lipid-metabolism-related-genes-in-colon-cancer
#9
Lara P Fernández, Ricardo Ramos-Ruiz, Jesús Herranz, Roberto Martín-Hernández, Teodoro Vargas, Marta Mendiola, Laura Guerra, Guillermo Reglero, Jaime Feliu, Ana Ramírez de Molina
Metabolic alterations encountered in tumors are well recognized and considered as a hallmark of cancer. In addition to Warburg Effect, epidemiological and experimental studies support the crucial role of lipid metabolism in colorectal cancer (CRC). The overexpression of four lipid metabolism-related genes ( ABCA1, ACSL1, AGPAT1 and SCD genes) has been proposed as prognostic marker of stage II CRC (ColoLipidGene signature). In order to explore in depth the transcriptomic and genomic scenarios of ABCA1 , ACSL1 , AGPAT1 and SCD genes, we performed a transcriptomic meta-analysis in more than one thousand CRC individuals...
January 19, 2018: Oncotarget
https://www.readbyqxmd.com/read/29463900/modifications-and-functional-genomics-of-human-transfer-rna
#10
Tao Pan
Transfer RNA (tRNA) is present at tens of millions of transcripts in a human cell and is the most abundant RNA in moles among all cellular RNAs. tRNA is also the most extensively modified RNA with, on an average, 13 modifications per molecule. The primary function of tRNA as the adaptor of amino acids and the genetic code in protein synthesis is well known. tRNA modifications play multi-faceted roles in decoding and other cellular processes. The abundance, modification, and aminoacylation (charging) levels of tRNAs contribute to mRNA decoding in ways that reflect the cell type and its environment; however, how these factors work together to maximize translation efficiency remains to be understood...
February 20, 2018: Cell Research
https://www.readbyqxmd.com/read/29463883/frequent-and-differential-mutations-of-the-cyld-gene-in-basal-cell-salivary-neoplasms-linkage-to-tumor-development-and-progression
#11
Miguel Rito, Yoshitsugu Mitani, Diana Bell, Fernanda Viviane Mariano, Salman T Almalki, Kristen B Pytynia, Isabel Fonseca, Adel K El-Naggar
Basal cell salivary neoplasms display similar cyto-morphologic features and are classified into adenoma and adenocarcinoma based on the presence or absence of tumor invasion at diagnosis. These neoplasms also share considerable phenotypic resemblance and co-exist with certain dermal adnexal tumors harboring the CYLD gene mutations inferring common genetic association. We sequenced the CYLD gene in both basal cell adenomas and adenocarcinomas and correlated the findings with CYLD, NF-κB, and β-catenin expression levels and clinicopathologic factors...
February 20, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29463655/-de-novo-assembly-and-phasing-of-dikaryotic-genomes-from-two-isolates-of-puccinia-coronata-f-sp-avenae-the-causal-agent-of-oat-crown-rust
#12
Marisa E Miller, Ying Zhang, Vahid Omidvar, Jana Sperschneider, Benjamin Schwessinger, Castle Raley, Jonathan M Palmer, Diana Garnica, Narayana Upadhyaya, John Rathjen, Jennifer M Taylor, Robert F Park, Peter N Dodds, Cory D Hirsch, Shahryar F Kianian, Melania Figueroa
Oat crown rust, caused by the fungus Pucinnia coronata f. sp. avenae , is a devastating disease that impacts worldwide oat production. For much of its life cycle, P. coronata f. sp. avenae is dikaryotic, with two separate haploid nuclei that may vary in virulence genotype, highlighting the importance of understanding haplotype diversity in this species. We generated highly contiguous de novo genome assemblies of two P. coronata f. sp. avenae isolates, 12SD80 and 12NC29, from long-read sequences. In total, we assembled 603 primary contigs for 12SD80, for a total assembly length of 99...
February 20, 2018: MBio
https://www.readbyqxmd.com/read/29463568/an-exome-wide-sequencing-study-of-lipid-response-to-high-fat-meal-and-fenofibrate-in-caucasians-from-the-goldn-cohort
#13
Xin Geng, Marguerite R Irvin, Bertha Hidalgo, Stella Aslibekyan, Vinodh Srinivasasainagendra, Ping An, Alexis Frazier-Wood, Hemant K Tiwari, Tushar Dave, Kathleen Ryan, Jose M Ordovas, Robert J Straka, Mary F Feitosa, Paul N Hopkins, Ingrid Borecki, Michael A Province, Braxton D Mitchell, Donna K Arnett, Degui Zhi
Our understanding of genetic influences on the response of lipids to specific interventions is limited. In this study, we sought to elucidate effects of rare genetic variants on lipid response to a high-fat meal challenge and fenofibrate (FFB) therapy in the Genetics of Lipid Lowering Drugs and Diet Network (GOLDN) cohort using an exome-wide sequencing-based association study. Our results showed that the rare coding variants in ITGA7, SIPA1L2, and CEP72 are significantly associated with fasting low-density lipoprotein cholesterol (LDL-C) response to FFB (P=1...
February 20, 2018: Journal of Lipid Research
https://www.readbyqxmd.com/read/29463216/long-non-coding-rna-hotair-polymorphism-and-susceptibility-to-cancer-an-updated-meta-analysis
#14
Juan Li, Zhigang Cui, Hang Li, Xiaoting Lv, Min Gao, Zitai Yang, Yanhong Bi, Baosen Zhou, Zhihua Yin
BACKGROUND: An increasing number of publications are drawing attention to the associations between six common polymorphisms in HOX transcript anti-sense RNA (HOTAIR) and the risk of cancers, while these results have been controversial and inconsistent. We conducted an up-to-date meta-analysis to pool eligible studies and to further explore the possible relationships between HOTAIR polymorphisms (rs920778, rs7958904, rs12826786, 4,759,314, rs874945, and rs1899663) and cancer risk. METHODS: A systematic retrieval was conducted up to 1 July 2017 in the PubMed, Web of Science, and CNKI databases...
February 20, 2018: Environmental Health and Preventive Medicine
https://www.readbyqxmd.com/read/29462795/positive-zip-coding-in-small-protein-translocation
#15
Yukari Okamoto, Sojin Shikano
Most newly synthesized proteins destined for the secretory pathway contain a signal peptide (SP) that triggers cotranslational translocation into the endoplasmic reticulum (ER). However, how small polypeptides undergo ER translocation is not fully understood. In this issue of JBC , Guo et al. describe a mechanism for posttranslational translocation of small secretory proteins featuring a positive charge within the SP N-terminal region. Defects in this element disrupt proper secretion and explain the effects of genetic mutations associated with one type of diabetes...
February 9, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29462666/sca-tethering-pcr-a-rapid-genetic-test-for-the-diagnosis-of-sca1-3-6-and-7-by-pcr-and-capillary-electrophoresis
#16
Claudia Cagnoli, Alessandro Brussino, Cecilia Mancini, Marina Ferrone, Laura Orsi, Paola Salmin, Patrizia Pappi, Elisa Giorgio, Elisa Pozzi, Simona Cavalieri, Eleonora Di Gregorio, Marta Ferrero, Alessandro Filla, Giuseppe De Michele, Cinzia Gellera, Caterina Mariotti, Suran Nethisinghe, Paola Giunti, Giovanni Stevanin, Alfredo Brusco
Spinocerebellar ataxias (SCA) type 1, 2, 3, 6, and 7, associated with a (CAG)n repeat expansion in coding sequences, are the most prevalent autosomal dominant ataxias worldwide (approximately 60% of the cases). In addition, the phenotype of SCA2 expansions has been now extended to Parkinson's disease and amyotrophic lateral sclerosis. Their diagnosis is presently based on a PCR to identify small expanded alleles, followed by a second-level test whenever the suspect of false normal homozygous, or a CAT interruption in SCA1 needs to be verified...
February 17, 2018: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/29462191/higher-serum-choline-and-betaine-levels-are-associated-with-better-body-composition-in-male-but-not-female-population
#17
Xiang Gao, Edward Randell, Haicheng Zhou, Guang Sun
BACKGROUND: Animal studies proved that choline and betaine have beneficial effect on reducing body fat. However, evidence in humans is scarce. We aim to investigate the association between serum choline and betaine levels with body composition in general population. METHODS: This is an observational cross-sectional study performed in 1081 subjects from the CODING (Complex Disease in Newfoundland population: Environment and Genetics) study. Serum choline and betaine levels were measured based on liquid chromatography coupled with tandem mass spectrometry technology...
2018: PloS One
https://www.readbyqxmd.com/read/29462190/divergent-bornaviruses-from-australian-carpet-pythons-with-neurological-disease-date-the-origin-of-extant-bornaviridae-prior-to-the-end-cretaceous-extinction
#18
Timothy H Hyndman, Catherine M Shilton, Mark D Stenglein, James F X Wellehan
Tissue samples from Australian carpet pythons (Morelia spilota) with neurological disease were screened for viruses using next-generation sequencing. Coding complete genomes of two bornaviruses were identified with the gene order 3'-N-X-P-G-M-L, representing a transposition of the G and M genes compared to other bornaviruses and most mononegaviruses. Use of these viruses to search available vertebrate genomes enabled recognition of further endogenous bornavirus-like elements (EBLs) in diverse placental mammals, including humans...
February 20, 2018: PLoS Pathogens
https://www.readbyqxmd.com/read/29460184/circulatory-white-spot-syndrome-virus-in-south-west-region-of-bangladesh-from-2014-to-2017-molecular-characterization-and-genetic-variation
#19
Mohammad Anwar Siddique, Md Inja-Mamun Haque, Santonu Kumar Sanyal, Anwar Hossain, Shuvro Prokash Nandi, A S M Rubayet Ul Alam, Munawar Sultana, Mahmud Hasan, M Anwar Hossain
White Spot Syndrome Virus (WSSV), the etiological agent of White Spot Disease (WSD) is a major impediment for shrimp aquaculture in the worldwide. A critical threshold level of WSSV load in infected shrimp is an important trait for disease manifestation and WSSV transmission in cultured shrimp and subsequently make outbreaks. The present study investigated 120 naturally infected cultured shrimp samples by SYBR Green based qPCR assay for WSD diagnosis and quantification of WSSV load. Among them, 94 samples resulted a variable count of WSSV load ranging from 2...
February 20, 2018: AMB Express
https://www.readbyqxmd.com/read/29460062/non-syndromic-single-suture-craniosynostosis-in-triplets
#20
David Chesler, Richard Bram, Prince Antwi, Andrew T Timberlake, Michael L DiLuna, Kristopher T Kahle
INTRODUCTION: Craniosynostosis is the premature fusion of one or more cranial sutures. The cause of non-syndromic craniosynostosis has been attributed to a complex interaction among genetic, epigenetic, and environmental factors. Increased concordance rates in monozygotic twins support a genetic etiology while a concordance rate less than 100% suggests environmental and/or epigenetic influences. Here, we describe the first reported occurrence of all three children in a triplet set with non-syndromic single-suture craniosynostosis...
February 19, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
keyword
keyword
52716
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"