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https://www.readbyqxmd.com/read/27915476/translational-research-for-pediatric-lower-urinary-tract-dysfunction
#1
REVIEW
Akihiro Kanematsu
This review provides a comprehensive view of translational research aimed at elucidating the pathophysiology of pediatric lower urinary tract dysfunction (LUTD). A web search was conducted according to combinations of keywords, and the significance of each article was defined by the author. The dramatic evolution of the mass analysis method of genomes, transcripts, and proteins has enabled a comprehensive analysis of molecular events underlying diseases, and these methodologies have also been applied to pediatric LUTD...
November 2016: International Neurourology Journal
https://www.readbyqxmd.com/read/27915454/round-fruit-shape-in-wi7239-cucumber-is-controlled-by-two-interacting-quantitative-trait-loci-with-one-putatively-encoding-a-tomato-sun-homolog
#2
Yupeng Pan, Xinjing Liang, Meiling Gao, Hanqiang Liu, Huanwen Meng, Yiqun Weng, Zhihui Cheng
QTL analysis revealed two interacting loci, FS1.2 and FS2.1, underlying round fruit shape in WI7239 cucumber; CsSUN , a homolog of tomato fruit shape gene SUN , was a candidate for FS1.2. Fruit size is an important quality and yield trait in cucumber, but its genetic basis remains poorly understood. Here we reported QTL mapping results on fruit size with segregating populations derived from the cross between WI7238 (long fruit) and WI7239 (round fruit) inbred cucumber lines. Phenotypic data of fruit length and diameter were collected at anthesis, immature and mature fruit stages in four environments...
December 3, 2016: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/27915449/common-variants-in-cldn14-are-associated-with-differential-excretion-of-magnesium-over-calcium-in-urine
#3
REVIEW
Tanguy Corre, Eric Olinger, Sarah E Harris, Michela Traglia, Sheila Ulivi, Stefania Lenarduzzi, Hendrica Belge, Sonia Youhanna, Natsuko Tokonami, Olivier Bonny, Pascal Houillier, Ozren Polasek, Ian J Deary, John M Starr, Daniela Toniolo, Paolo Gasparini, Peter Vollenweider, Caroline Hayward, Murielle Bochud, Olivier Devuyst
The nature and importance of genetic factors regulating the differential handling of Ca(2+) and Mg(2+) by the renal tubule in the general population are poorly defined. We conducted a genome-wide meta-analysis of urinary magnesium-to-calcium ratio to identify associated common genetic variants. We included 9320 adults of European descent from four genetic isolates and three urban cohorts. Urinary magnesium and calcium concentrations were measured centrally in spot urine, and each study conducted linear regression analysis of urinary magnesium-to-calcium ratio on ~2...
December 3, 2016: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/27915419/necrotizing-meningoencephalitis-caused-by-sarcocystis-falcatula-in-bare-faced-ibis-phimosus-infuscatus
#4
Guilherme Konradt, Matheus Viezzer Bianchi, Ronaldo Viana Leite-Filho, Bruna Zafalon da Silva, Rodrigo Martins Soares, Saulo Petinatti Pavarini, David Driemeier
The infection by S. falcatula is commonly associated with respiratory disease in captive psittacine birds, with a few case reports of this protozoan causing encephalitis in wild birds. We describe the clinical, pathological, and molecular aspects of an infection by S. falcatula in a bare-faced ibis (Phimosus infuscatus). Clinically, wing paralysis and mild motor incoordination were observed. At necropsy, the telencephalic cortex showed multifocal to coalescing yellowish soft areas. Histologically, multifocal to coalescent nonsuppurative necrotizing meningoencephalitis of telencephalic cortex, cerebellum, and brainstem was observed...
December 3, 2016: Parasitology Research
https://www.readbyqxmd.com/read/27915380/proteins-interacting-with-crea-and-creb-in-the-carbon-catabolite-repression-network-in-aspergillus-nidulans
#5
Md Ashiqul Alam, Joan M Kelly
In Aspergillus nidulans, carbon catabolite repression (CCR) is mediated by the global repressor protein CreA. The deubiquitinating enzyme CreB is a component of the CCR network. Genetic interaction was confirmed using a strain containing complete loss-of-function alleles of both creA and creB. No direct physical interaction was identified between tagged versions of CreA and CreB. To identify any possible protein(s) that may form a bridge between CreA and CreB, we purified both proteins from mycelia grown in media that result in repression or derepression...
December 3, 2016: Current Genetics
https://www.readbyqxmd.com/read/27915330/mechanism-of-sex-determination-in-humans-insights-from-disorders-of-sex-development
#6
Anu Bashamboo, Ken McElreavey
In this review we will consider the gene mutations responsible for the non-syndromic forms of disorders of sex development (DSD) and how recent genetic findings are providing insights into the mechanism of sex determination. High-throughput sequencing technologies are having a major impact on our understanding of the genetic basis of rare human disorders, including DSD. The study of human DSD is progressively revealing subtle differences in the genetics of the sex-determining system between the mouse and the human...
December 3, 2016: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/27915294/insightful-directed-evolution-of-escherichia-coli-quorum-sensing-promoter-region-of-the-lsracdbfg-operon-a-tool-for-synthetic-biology-systems-and-protein-expression
#7
Pricila Hauk, Kristina Stephens, Ryan Mckay, Chelsea Ryan Virgile, Hana Ueda, Marc Ostermeier, Kyoung-Seok Ryu, Herman O Sintim, William E Bentley
Quorum sensing (QS) regulates many natural phenotypes (e.q. virulence, biofilm formation, antibiotic resistance), and its components, when incorporated into synthetic genetic circuits, enable user-directed phenotypes. We created a library of Escherichia coli lsr operon promoters using error-prone PCR (ePCR) and selected for promoters that provided E. coli with higher tetracycline resistance over the native promoter when placed upstream of the tet(C) gene. Among the fourteen clones identified, we found several mutations in the binding sites of QS repressor, LsrR...
December 1, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27915291/the-landscape-of-microbial-phenotypic-traits-and-associated-genes
#8
Maria Brbić, Matija Piškorec, Vedrana Vidulin, Anita Kriško, Tomislav Šmuc, Fran Supek
Bacteria and Archaea display a variety of phenotypic traits and can adapt to diverse ecological niches. However, systematic annotation of prokaryotic phenotypes is lacking. We have therefore developed ProTraits, a resource containing ∼545 000 novel phenotype inferences, spanning 424 traits assigned to 3046 bacterial and archaeal species. These annotations were assigned by a computational pipeline that associates microbes with phenotypes by text-mining the scientific literature and the broader World Wide Web, while also being able to define novel concepts from unstructured text...
December 1, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27915251/identification-of-a-campylobacter-coli-methyltransferase-targeting-adenines-at-gatc-sites
#9
Vikrant Dutta, Eric Altermann, Maria D Crespo, Jonathan W Olson, Robin M Siletzky, Sophia Kathariou
Campylobacter coli can infect humans and colonize multiple other animals but its host-associated genes or adaptations are poorly understood. Adenine methylation at GATC sites, resulting in MboI resistance of genomic DNA, was earlier frequently detected among C. coli from swine but not among turkey-derived isolates. The underlying genetic basis has remained unknown. Comparative genome sequence analyses of C. coli 6461, a swine-derived strain with MboI-resistant DNA, revealed two chromosomal ORFs, 0059 and 0060, encoding a putative DNA methyltransferase and a conserved hypothetical protein, respectively, which were lacking from the genome of the turkey-derived C...
December 2, 2016: FEMS Microbiology Letters
https://www.readbyqxmd.com/read/27915247/genomic-diversity-of-bacteriophages-infecting-the-fish-pathogen-flavobacterium-psychrophilum
#10
Daniel Castillo, Mathias Middelboe
Bacteriophages infecting the fish pathogen Flavobacterium psychrophilum can potentially be used to prevent and control outbreaks of this bacterium in salmonid aquaculture. However, application of bacteriophages in disease control requires detailed knowledge on their genetic composition. To explore the diversity of F. pyschrophilum bacteriophages we have analyzed the complete genome sequences of 17 phages isolated from two distant geographic areas (Denmark and Chile), including the previously characterized temperate bacteriophage 6H...
December 2, 2016: FEMS Microbiology Letters
https://www.readbyqxmd.com/read/27915089/complete-mitochondrial-genome-of-parasitic-nematode-cylicocyclus-nassatus-and-comparative-analyses-with-cylicocyclus-insigne
#11
Yuan Gao, Jian-Hua Qiu, Bing-Bing Zhang, Xin Su, Xue Fu, Dong-Mei Yue, Chun-Ren Wang
Cylicocyclus nassatus is a common and important parasite in the large intestine of equine. In this study, the complete mitochondrial (mt) genome sequence of C. nassatus was determined and comparatively analysed with Cylicocyclus insigne. The mt genome size of C. nassatus was 13,846 bp, 18 bp longer than that of C. insigne. The circular mt genome includes 12 protein-coding genes, two rRNA genes, 22 tRNA genes and two non-coding regions. All the genes are transcribed in the same direction and gene arrangement is consistent with that of gene arrangement 3 (GA3)...
November 30, 2016: Experimental Parasitology
https://www.readbyqxmd.com/read/27915087/genetically-unrelated-multidrug-and-carbapenem-resistant-citrobacter-freundii-detected-in-outpatients-admitted-to-a-portuguese-hospital
#12
Cátia Santos, Elmano Ramalheira, Gabriela Da Silva, Sónia Mendo
OBJECTIVES: Non-clonal, carbapenem- and multidrug-resistant Citrobacter freundii isolates were collected from unrelated outpatients admitted to a Portuguese hospital emergency department. One patient lived in a nursing home and was never hospitalised, whereas the other patient was repeatedly hospitalised in this hospital. The aim of this study was to unveil the molecular mechanisms associated with the carbapenem resistance of these isolates and to assess its potential dissemination. METHODS: Isolate identification was performed by VITEK(®)2 and was confirmed by 16S rDNA sequencing...
November 15, 2016: Journal of Global Antimicrobial Resistance
https://www.readbyqxmd.com/read/27915083/pharmacodynamic-and-cytogenetic-evaluation-in-cyp2c19-2-and-cyp2c19-3-allelomorphism-in-south-indian-population-with-clopidogrel-therapy
#13
Javeed Ahmad Tantray, K Pratap Reddy, Kaiser Jamil, Y Shiva Kumar
BACKGROUND: Genetic factors play a significant role in pathogenesis of most diseases of heart. The present study was undertaken to correlate coronary artery disease with demographical, biochemical alterations, SNPs, gene expression and chromosomal abnormalities and for further enlightening the investigation in this field. METHODS: 150 patients taking clopidogrel drug were selected and single nucleotide polymorphism was done by PCR-RFLP techniques. With the same patients cytogenetic analysis was carried out on leukocyte cultures by karyotyping...
November 11, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/27915035/hyperinsulinaemic-hypoglycaemia-in-children-and-adults
#14
REVIEW
Pratik Shah, Sofia A Rahman, Huseyin Demirbilek, Maria Güemes, Khalid Hussain
Pancreatic β cells are functionally programmed to release insulin in response to changes in plasma glucose concentration. Insulin secretion is precisely regulated so that, under normal physiological conditions, fasting plasma glucose concentrations are kept within a narrow range of 3·5-5·5 mmol/L. In hyperinsulinaemic hypoglycaemia, insulin secretion becomes dysregulated (ie, uncoupled from glucose metabolism) so that insulin secretion persists in the presence of low plasma glucose concentrations. Hyperinsulinaemic hypoglycaemia is the most common cause of severe and persistent hypoglycaemia in neonates and children...
November 30, 2016: Lancet Diabetes & Endocrinology
https://www.readbyqxmd.com/read/27915025/molecular-analysis-of-the-agxt-gene-in-patients-suspected-with-hyperoxaluria-type-1-and-three-novel-mutations-from-turkey
#15
Emel Isiyel, Sevcan A Bakkaloglu Ezgu, Salim Caliskan, Sema Akman, Ipek Akil, Yilmaz Tabel, Nurver Akinci, Elif Bahat Ozdogan, Ahmet Ozel, Fehime Kara Eroglu, Fatih S Ezgu
Primary hyperoxaluria type 1 (PH1) is a rare, autosomal recessive disease, caused by the defect of AGXT gene encoding hepatic peroxisomal alanine glyoxylateaminotransferase (AGT). This enzyme is responsible for the conversion of glyoxylate to glycine. The diagnosis of PH1 should be suspected in infants and children with nephrocalcinosis or nephrolithiasis. Early diagnosis and treatment is crucial in preventing disease progression to end stage kidney disease (ESKD). In this study, AGXT gene sequence analyses were performed in 82 patients who were clinically suspected (hyperoxaluria and nephrolithiasis or nephrocalcinosis with or without renal impairment) to have PH1...
November 1, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27914989/transcriptome-analysis-of-adult-and-fetal-trabecular-meshwork-cornea-and-ciliary-body-tissues-by-rna-sequencing
#16
Megan Ulmer Carnes, R Rand Allingham, Allison Ashley-Koch, Michael A Hauser
PURPOSE: To characterize the transcriptional landscape of human adult and fetal trabecular meshwork (TM), cornea, and ciliary body (CB) tissues, and to evaluate the expression level of candidate genes selected from genetic association studies of primary-open angle glaucoma, central corneal thickness, intraocular pressure, vertical cup to disc ratio, and optic nerve parameters. METHODS: Deep RNA sequencing was performed on the selected human tissues. Transcriptome analyses were performed to 1) characterize the total number of expressed genes, 2) identify the most highly expressed genes, 3) estimate the number of novel transcripts, and 4) evaluate the expression of candidate genes in each tissue...
November 30, 2016: Experimental Eye Research
https://www.readbyqxmd.com/read/27914959/virulence-traits-and-different-nle-profiles-in-cattle-and-human-verotoxin-producing-escherichia-coli-o157-h7-strains-from-argentina
#17
Juliana González, Andrea Mariel Sanso, Jimena Soledad Cadona, Ana Victoria Bustamante
Verotoxin-producing E. coli (VTEC) O157:H7 is the dominant serotype isolated from patients with HUS and, Argentina has the highest rate of HUS in the world. Molecular typing had allowed to identify subpopulations related to the origin and virulence of O157:H7 strains. Our aim was to perform a genetic characterization of 43 O157:H7 strains isolated in Argentine mostly from cattle and humans in order to establish the potential public health risk. For it, we used a combination of molecular subtyping methods in order to identify clade 8_rhsA (C3468G), LSPA-6 and virulence profiles and, a cytotoxicity assay on Vero cell...
November 30, 2016: Microbial Pathogenesis
https://www.readbyqxmd.com/read/27914919/expressing-a-moth-abcc2-gene-in-transgenic-drosophila-causes-susceptibility-to-bt-cry1ac-without-requiring-a-cadherin-like-protein-receptor
#18
Tristan Stevens, Sisi Song, John B Bruning, Amanda Choo, Simon W Baxter
Bt toxins ingested by insect pests can bind to midgut receptors and cause death, although several steps in this process remain unclear. Multiple Bt toxin receptors have been identified in Lepidoptera, including a cadherin-like protein (CaLP), which is central to several models explaining Bt toxins' mode of action. Mutations in the Plutella xylostella ATP-dependent binding cassette transporter C2 (Px-abcc2), rather than CaLP, are genetically linked with Bt Cry1Ac resistance. Here we expressed Px-abcc2 in Drosophila and performed larval bioassays to determine whether this protein acts as an effective Bt receptor...
November 30, 2016: Insect Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/27914912/identification-of-foxj1-effectors-during-ciliogenesis-in-the-foetal-respiratory-epithelium-and-embryonic-left-right-organiser-of-the-mouse
#19
Michael Stauber, Marina Weidemann, Oliver Dittrich-Breiholz, Katharina Lobschat, Leonie Alten, Michaela Mai, Anja Beckers, Michael Kracht, Achim Gossler
Formation of motile cilia in vertebrate embryos is essential for proper development and tissue function. Key regulators of motile ciliogenesis are the transcription factors FOXJ1 and NOTO, which are conserved throughout vertebrates. Downstream target genes of FOXJ1 have been identified in a variety of species, organs and cultured cell lines; in murine embryonic and foetal tissues, however, FOXJ1 and NOTO effectors have not been comprehensively analysed and our knowledge of the downstream genetic programme driving motile ciliogenesis in the mammalian lung and ventral node is fragmentary...
November 30, 2016: Developmental Biology
https://www.readbyqxmd.com/read/27914838/lacrimal-gland-involvement-in-blepharophimosis-ptosis-epicanthus-inversus-syndrome
#20
Ana Filipa Duarte, Patricia M S Akaishi, Greice A de Molfetta, Salomão Chodraui-Filho, Murilo Cintra, Alcina Toscano, Wilson Araujo Silva, Antonio A V Cruz
PURPOSE: To describe the involvement of the lacrimal gland (LG) in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). DESIGN: Observational, cross-sectional study. PARTICIPANTS: Twenty-one patients with BPES (10 female, 11 male) aged on average 15 years (range, 2-39 years), from 3 Brazilian medical centers and 1 Portuguese medical center. METHODS: Patients had their ocular surface evaluated with slit-lamp biomicroscopy, and tear production quantified with the Schirmer test I...
November 30, 2016: Ophthalmology
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