keyword
MENU ▼
Read by QxMD icon Read
search

Nucleotide performance

keyword
https://www.readbyqxmd.com/read/28527106/a-trans-acting-factor-may-modify-age-at-onset-in-familial-amyloid-polyneuropathy-attrv30m-in-portugal
#1
Miguel Alves-Ferreira, Teresa Coelho, Diana Santos, Jorge Sequeiros, Isabel Alonso, Alda Sousa, Carolina Lemos
Although all familial amyloid polyneuropathy (FAP) ATTRV30M patients carry the same causative mutation, early (<40) and late-onset forms (≥50 years) of FAP may coexist in the same family. However, this variability in age at onset is still unexplained. To identify modifiers closely linked to the TTR locus that may in part be associated with age at onset of FAP ATTRV30M, in particular in a group of very early-onset patients (≤30 years) when compared with late-onset individuals. A clinical genetic study at a referral center comprising a sample of 910 Portuguese individuals includes 589 Val30Met carriers, 102 spouses, and 189 controls from the general population...
May 19, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28527015/a-genome-wide-association-study-identifies-the-genomic-region-associated-with-shell-color-in-yesso-scallop-patinopecten-yessoensis
#2
Liang Zhao, Yangping Li, Yajuan Li, Jiachen Yu, Huan Liao, Shuyue Wang, Jia Lv, Jun Liang, Xiaoting Huang, Zhenmin Bao
The shell color polymorphism widely exists in economic shellfish, which not only results in a better visual perception but also shows great value as an economic trait for breeding. Small numbers of reddish-orange shell Yesso scallops, Patinopecten yessoensis, were found in cultured populations compared to the brown majority. In this study, a genome-wide association study was conducted to understand the genetic basis of shell color. Sixty-six 2b-RAD libraries with equal numbers of reddish-orange and brown shell individuals were constructed and sequenced using the Illumina HiSeq 2000 platform...
May 19, 2017: Marine Biotechnology
https://www.readbyqxmd.com/read/28526559/a-single-nucleotide-polymorphism-of-cyclin-dependent-kinase-inhibitor-1b-p27-kip1-associated-with-human-vein-graft-failure-affects-growth-of-human-venous-adventitial-cells-but-not-smooth-muscle-cells
#3
Richard D Kenagy, Shinsuke Kikuchi, Lihua Chen, Errol S Wijelath, Andrew B Stergachis, John Stamatoyannopoulos, Gale L Tang, Alexander W Clowes, Michael Sobel
BACKGROUND: Cyclin-dependent kinase inhibitor 1B (p27(Kip1)) is a cell-cycle inhibitor whose -838C>A single nucleotide polymorphism (rs36228499; hereafter called p27 SNP) has been associated with the clinical failure of peripheral vein grafts, but the functional effects of this SNP have not been demonstrated. METHODS: Human saphenous vein adventitial cells and intimal/medial smooth muscle cells (SMCs) were derived from explants obtained at the time of lower extremity bypass operations...
May 16, 2017: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/28526081/comprehensive-detection-of-germline-variants-by-msk-impact-a-clinical-diagnostic-platform-for-solid-tumor-molecular-oncology-and-concurrent-cancer-predisposition-testing
#4
Donavan T Cheng, Meera Prasad, Yvonne Chekaluk, Ryma Benayed, Justyna Sadowska, Ahmet Zehir, Aijazuddin Syed, Yan Elsa Wang, Joshua Somar, Yirong Li, Zarina Yelskaya, Donna Wong, Mark E Robson, Kenneth Offit, Michael F Berger, Khedoudja Nafa, Marc Ladanyi, Liying Zhang
BACKGROUND: The growing number of Next Generation Sequencing (NGS) tests is transforming the routine clinical diagnosis of hereditary cancers. Identifying whether a cancer is the result of an underlying disease-causing mutation in a cancer predisposition gene is not only diagnostic for a cancer predisposition syndrome, but also has significant clinical implications in the clinical management of patients and their families. METHODS: Here, we evaluated the performance of MSK-IMPACT (Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets) in detecting genetic alterations in 76 genes implicated in cancer predisposition syndromes...
May 19, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28526070/the-golden-retriever-model-of-duchenne-muscular-dystrophy
#5
REVIEW
Joe N Kornegay
Duchenne muscular dystrophy (DMD) is an X-linked disease caused by mutations in the DMD gene and loss of the protein dystrophin. The absence of dystrophin leads to myofiber membrane fragility and necrosis, with eventual muscle atrophy and contractures. Affected boys typically die in their second or third decade due to either respiratory failure or cardiomyopathy. Despite extensive attempts to develop definitive therapies for DMD, the standard of care remains prednisone, which has only palliative benefits. Animal models, mainly the mdx mouse and golden retriever muscular dystrophy (GRMD) dog, have played a key role in studies of DMD pathogenesis and treatment development...
May 19, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28525970/the-immunoregulatory-role-of-alpha-enolase-in-dendritic-cell-function-during-chlamydia-infection
#6
Khamia Ryans, Yusuf Omosun, Danielle N McKeithen, Tankya Simoneaux, Camilla C Mills, Nathan Bowen, Francis O Eko, Carolyn M Black, Joseph U Igietseme, Qing He
BACKGROUND: We have previously reported that interleukin-10 (IL-10) deficient dendritic cells (DCs) are potent antigen presenting cells that induced elevated protective immunity against Chlamydia. To further investigate the molecular and biochemical mechanism underlying the superior immunostimulatory property of IL-10 deficient DCs we performed proteomic analysis on protein profiles from Chlamydia-pulsed wild-type (WT) and IL-10(-/-) DCs to identify differentially expressed proteins with immunomodulatory properties...
May 19, 2017: BMC Immunology
https://www.readbyqxmd.com/read/28525658/genotyping-of-snps-associated-with-meat-tenderness-comparison-of-two-pcr-based-methods
#7
L E López-Rojas, L Patiño-Cadavid, A López-Herrera, J J Echeverri-Zuluaga
Single nucleotide polymorphisms (SNPs) carried in calpain (CAPN1), calpastatin (CAST), and leptin (LEP) genes are associated with meat tenderness. Due to the economic importance of this meat quality attribute, the development of fast, reliable, and affordable methods to identify bovine carriers of favorable alleles is of great importance for genetic improvement. Currently, PCR-RFLP is accepted as the standard gold method for genotyping SNPs associated with meat tenderness. But these SNPs can be detected by other techniques as high-resolution melting (HRM) analysis - a post-PCR method - that offers several advantages and has great application potential in the meat industry...
May 18, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28525653/predicted-philogeny-secondary-conformational-structure-and-epitope-antigenicity-of-immunological-sequences-in-poultry
#8
L J Lara, A P Peconick, É J Fassani, A M P Júnior, P R B Chalfun, D L Raymundo, T A Barçante, J M de P Barçante
Poultry production is faced with different types of stresses that are responsible for issues of animal welfare as well as for economic losses. Moreover, the immunity decreases when animals are stressed. In silico analyses are important in reducing the cost and in increasing the accuracy of scientific results. A bioinformatics tool was used to perform ontology studies on 15 different immunological sequences of poultry. The mRNA structures and sequences with maximum antigenic residues were also predicted. No homology was found between the sequences of poultry and mammals...
May 18, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28525570/droplet-barcode-sequencing-for-targeted-linked-read-haplotyping-of-single-dna-molecules
#9
David Redin, Erik Borgström, Mengxiao He, Hooman Aghelpasand, Max Käller, Afshin Ahmadian
Data produced with short-read sequencing technologies result in ambiguous haplotyping and a limited capacity to investigate the full repertoire of biologically relevant forms of genetic variation. The notion of haplotype-resolved sequencing data has recently gained traction to reduce this unwanted ambiguity and enable exploration of other forms of genetic variation; beyond studies of just nucleotide polymorphisms, such as compound heterozygosity and structural variations. Here we describe Droplet Barcode Sequencing, a novel approach for creating linked-read sequencing libraries by uniquely barcoding the information within single DNA molecules in emulsion droplets, without the aid of specialty reagents or microfluidic devices...
May 19, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28525297/association-analysis-of-nonsyndromic-congenital-heart-disease-and-tag-single-nucleotide-polymorphisms-of-tbx20-and-genes-in-the-ras-mapk-pathway
#10
Zhiling Luo, Yan Shen, Wei Chen, Xuejuan Ma, Liping Liu, Xiaoqin Huang, Zhaoqing Yang, Hao Sun
AIMS: The present study was performed to determine whether there are variants in TBX20 and genes of the Ras-MAPK pathway associated with nonsyndromic congenital heart disease (ns-CHD). MATERIALS AND METHODS: A total of 223 ns-CHD patients and 273 healthy controls from China were selected as study subjects to perform an association analysis using 22 tag single-nucleotide polymorphisms (tag SNPs) located either in one of three genes in the Ras-MAPK pathway (MAP2K2, BRAF, and RAF1) or the TBX20 gene that have previously been associated with syndromic congenital heart disease...
May 19, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28525288/inference-of-the-genetic-polymorphisms-of-cyp2d6-in-six-subtribes-of-the-malaysian-orang-asli-from-whole-genome-sequencing-data
#11
Choo Yee Yu, Geik Yong Ang, Vinothini Subramaniam, Richard Johari James, Aminuddin Ahmad, Thuhairah Abdul Rahman, Fadzilah Mohd Nor, Syahrul Azlin Shaari, Lay Kek Teh, Mohd Zaki Salleh
AIMS: CYP2D6 is one of the major enzymes in the cytochrome P450 monooxygenase system. It metabolizes ∼25% of prescribed drugs and hence, the genetic diversity of CYP2D6 gene has continued to be of great interest to the medical and pharmaceutical industries. This study aims to perform a systematic analysis of the CYP2D6 gene in six subtribes of the Malaysian Orang Asli. METHODS: Genomic DNAs were extracted from the blood samples followed by whole-genome sequencing...
May 19, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28524801/association-of-ugt2b7-ugt1a9-abcg2-and-il23r-polymorphisms-with-rejection-risk-in-kidney-transplant-patients
#12
Heloísa Lizotti Cilião, Rossana Batista Oliveira Camargo-Godoy, Marilesia Ferreira de Souza, Mariana Bisarro Dos Reis, Lorena Iastrenski, Vinicius Daher Alvares Delfino, Silvia Regina Rogatto, Ilce Mara de Syllos Cólus
Despite advances in testing compatibility between donor and recipient, graft rejection remains a current concern. Single-nucleotide polymorphisms (SNPs) that codify altered enzymes of metabolism, drug transport, and the immune system may contribute to graft rejection in transplant patients. This study examined the association between SNPs present in genes of these processes and occurrence of graft rejection episodes in 246 kidney transplant patients, 35% of which were diagnosed with rejection. Genotype-gene expression associations were also assessed...
May 19, 2017: Journal of Toxicology and Environmental Health. Part A
https://www.readbyqxmd.com/read/28521758/genome-wide-association-study-for-feed-efficiency-and-growth-traits-in-u-s-beef-cattle
#13
Christopher M Seabury, David L Oldeschulte, Mahdi Saatchi, Jonathan E Beever, Jared E Decker, Yvette A Halley, Eric K Bhattarai, Maral Molaei, Harvey C Freetly, Stephanie L Hansen, Helen Yampara-Iquise, Kristen A Johnson, Monty S Kerley, JaeWoo Kim, Daniel D Loy, Elisa Marques, Holly L Neibergs, Robert D Schnabel, Daniel W Shike, Matthew L Spangler, Robert L Weaber, Dorian J Garrick, Jeremy F Taylor
BACKGROUND: Single nucleotide polymorphism (SNP) arrays for domestic cattle have catalyzed the identification of genetic markers associated with complex traits for inclusion in modern breeding and selection programs. Using actual and imputed Illumina 778K genotypes for 3887 U.S. beef cattle from 3 populations (Angus, Hereford, SimAngus), we performed genome-wide association analyses for feed efficiency and growth traits including average daily gain (ADG), dry matter intake (DMI), mid-test metabolic weight (MMWT), and residual feed intake (RFI), with marker-based heritability estimates produced for all traits and populations...
May 18, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28521061/extracellular-camp-activates-molecular-signalling-pathways-associated-with-sperm-capacitation-in-bovines
#14
Carlos Agustín I Alonso, Claudia E Osycka-Salut, Luciana Castellano, Andreína Cesari, Nicolás Di Siervi, Adrián Mutto, Anders Johannisson, Jane M Morrell, Carlos Davio, Silvina Perez-Martinez
STUDY QUESTION: Is extracellular cAMP involved in the regulation of signalling pathways in bovine sperm capacitation? SUMMARY ANSWER: Extracellular cAMP-induced sperm capacitation through the activation of different signalling pathways that involve phospholipase C (PLC), PKC/ERK1-2 signalling and an increase in sperm Ca2+ levels, as well as soluble AC and cAMP/protein kinase A (PKA) signalling. WHAT IS KNOWN ALREADY: In order to fertilize the oocyte, ejaculated spermatozoa must undergo a series of changes in the female reproductive tract, known as capacitation...
May 18, 2017: Molecular Human Reproduction
https://www.readbyqxmd.com/read/28518213/relationship-between-toll-like-receptor-2-r753q-and-t16934a-polymorphisms-and-staphylococcus-aureus-nasal-carriage
#15
Maciej Żukowski, Olga Taryma-Leśniak, Mariusz Kaczmarczyk, Katarzyna Kotfis, Łukasz Szydłowski, Andrzej Ciechanowicz, Mirosław Brykczyński, Agnieszka Żukowska
BACKGROUND: The association among specific single-nucleotide polymorphisms (SNPs) in TLR2 R753Q (rs5743708) and T16934A (rs4696480) and the nasal carriage of Staphylococcus aureus was studied in adults before CABG. METHODS: The TLR2 polymorphisms were genotyped in 299 consecutive patients prepared for a CABG operation. Genotyping was performed using restriction fragment length polymorphism (RFLP) analysis of PCR-amplified fragments. Two nasal swab cultures were taken within 2 weeks before the operation...
May 18, 2017: Anaesthesiology Intensive Therapy
https://www.readbyqxmd.com/read/28515913/promoter-polymorphisms-of-the-vascular-endothelial-growth-factor-gene-are-associated-with-metabolic-syndrome-susceptibility-in-koreans
#16
Young Ree Kim, Seung-Ho Hong
Vascular endothelial growth factor (VEGF) is a potent regulator of angiogenesis. Patients with metabolic syndrome (MetS) have elevated plasma VEGF levels. The aim of the present study was to investigate the association between promoter polymorphisms (the -2578C>A and -1154G>A) of the VEGF gene and MetS susceptibility. A total of 640 subjects were enrolled in the study including 320 patients with MetS and 320 healthy controls. Genotyping of the VEGF single nucleotide polymorphisms was performed by polymerase chain reaction-restriction fragment length polymorphism analysis...
May 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28515798/epigenome-wide-association-of-myocardial-infarction-with-dna-methylation-sites-at-loci-related-to-cardiovascular-disease
#17
Masahiro Nakatochi, Sahoko Ichihara, Ken Yamamoto, Keiko Naruse, Shigeki Yokota, Hiroyuki Asano, Tatsuaki Matsubara, Mitsuhiro Yokota
BACKGROUND: Development of cardiovascular disease (CVD), including coronary artery disease, arrhythmia, and ischemic stroke, depends on environmental and genetic factors. To investigate the epigenetic basis of myocardial infarction (MI), we performed an epigenome-wide association study for this condition in elderly Japanese subjects. A total of 192 case subjects with MI and 192 control subjects were recruited from hospital attendees and the general population, respectively. Genome-wide DNA methylation (DNAm) profiles for DNA isolated from whole blood were obtained by analysis with an Infinium HumanMethylation450 BeadChip...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28515770/high-level-expression-of-recombinant-human-growth-hormone-in-escherichia-coli-crucial-role-of-translation-initiation-region
#18
Mahsa Ghavim, Khalil Abnous, Fatemeh Arasteh, Sahar Taghavi, Maryam Sadat Nabavinia, Mona Alibolandi, Mohammad Ramezani
For high-throughput production of recombinant protein in Escherichia coli (E. coli), besides important parameters such as efficient vector with strong promoter and compatible host, other important issues including codon usage, rare codons, and GC content specially at N-terminal region should be considered. In the current study, the effect of decreasing the percentage of GC nucleotides and optimizing codon usage at N-terminal region of human growth hormone (hGH) cDNA on the level of its expression in E. coli were investigated...
April 2017: Research in Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28515069/mendelian-randomization-shows-sex-specific-associations-between-long-chain-pufa-related-genotypes-and-cognitive-performance-in-danish-schoolchildren
#19
Lotte Lauritzen, Louise B Sørensen, Laurine B Harsløf, Christian Ritz, Ken D Stark, Arne Astrup, Camilla B Dyssegaard, Niels Egelund, Kim F Michaelsen, Camilla T Damsgaard
Background: Dietary and endogenously formed long-chain polyunsaturated fatty acids (LCPUFAs) are hypothesized to improve cognitive development, but results are inconclusive, with suggestions of sex specificity. One study suggested that single-nucleotide polymorphisms (SNPs) rs1535 and rs174448 in the fatty acid desaturase (FADS) gene cluster have opposite effects on erythrocyte LCPUFAs at 9 mo.Objective: To explore whether SNPs in FADS and elongase (ELOVL) genes were associated with school performance in a sex-specific manner, we performed a Mendelian randomization study using data from the Optimal well-being, development and health for Danish children through a healthy New Nordic Diet (OPUS) School Meal Study with 765 Danish schoolchildren 8-11 y old...
May 17, 2017: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28514846/natural-mutagenesis-enabled-global-proteomic-study-of-metabolic-and-carbon-source-implications-in-mutant-thermoacidophillic-archaeon-sulfolobus-solfataricus-pbl2025
#20
Wen Qiu, Trong Khoa Pham, Xin Zou, Saw Yen Ow, Phillip C Wright
The thermoacidophilic crenarchaeon Sulfolobus solfataricus has been widely used as a model organism for archaeal systems biology research. Investigation using its spontaneous mutant PBL2025 provides an effective metabolic baseline to study subsequent mutagenesis-induced process shifts as well as changes in feedback inhibitions. Here, an untargeted metabolic investigation using quantitative proteomics and metabolomics was performed to correlate changes in S. solfataricus strains P2 against PBL2025 and under both glucose and tryptone...
May 17, 2017: Journal of Proteome Research
keyword
keyword
77354
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"