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https://www.readbyqxmd.com/read/27915480/genetic-and-epigenetic-alterations-in-bladder-cancer
#1
REVIEW
Hong-Tao Li, Christopher E Duymich, Daniel J Weisenberger, Gangning Liang
Bladder cancer is one of the most common cancers worldwide, with a high rate of recurrence and poor outcomes as a result of relapse. Bladder cancer patients require lifelong invasive monitoring and treatment, making bladder cancer one of the most expensive malignancies. Lines of evidence increasingly point to distinct genetic and epigenetic alteration patterns in bladder cancer, even between the different stages and grades of disease. In addition, genetic and epigenetic alterations have been demonstrated to play important roles during bladder tumorigenesis...
November 2016: International Neurourology Journal
https://www.readbyqxmd.com/read/27915479/trends-in-next-generation-sequencing-and-a-new-era-for-whole-genome-sequencing
#2
REVIEW
Sang Tae Park, Jayoung Kim
This article is a mini-review that provides a general overview for next-generation sequencing (NGS) and introduces one of the most popular NGS applications, whole genome sequencing (WGS), developed from the expansion of human genomics. NGS technology has brought massively high throughput sequencing data to bear on research questions, enabling a new era of genomic research. Development of bioinformatic software for NGS has provided more opportunities for researchers to use various applications in genomic fields...
November 2016: International Neurourology Journal
https://www.readbyqxmd.com/read/27915476/translational-research-for-pediatric-lower-urinary-tract-dysfunction
#3
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/27915475/how-precisely-can-prostate-cancer-be-managed
#4
REVIEW
Liyan Zhuang, Matthew T Johnson
Progress has been made in applying genetic information to disease management in the postgenomic era, and precision medicine is emerging in prostate cancer management. The prostate health index, the 4-kallikrein (4K) score, and the PCA3, TMPRSS2- ERG, and Prostarix tests have potential for refining prostate cancer screening in conjunction with traditional prostate-specific antigen testing. The Confirm MDx and PCA3 tests have shown promise in identifying men who need be rebiopsied after a primary negative biopsy...
November 2016: International Neurourology Journal
https://www.readbyqxmd.com/read/27915474/racial-differences-in-the-diagnosis-and-treatment-of-prostate-cancer
#5
REVIEW
Giuliano Di Pietro, Ganna Chornokur, Nagi B Kumar, Chemar Davis, Jong Y Park
Disparities between African American and Caucasian men in prostate cancer (PCa) diagnosis and treatment in the United States have been well established, with significant racial disparities documented at all stages of PCa management, from differences in the type of treatment offered to progression-free survival or death. These disparities appear to be complex in nature, involving biological determinants as well as socioeconomic and cultural aspects. We present a review of the literature on racial disparities in the diagnosis of PCa, treatment, survival, and genetic susceptibility...
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
#6
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
#7
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/27915441/ovarian-metastasis-from-uveal-melanoma-with-mlh1-pms2-protein-loss-in-a-patient-with-germline-mlh1-mutated-lynch-syndrome-consequence-or-coincidence
#8
João Lobo, Carla Pinto, Micaela Freitas, Manuela Pinheiro, Rámon Vizcaino, Esther Oliva, Manuel R Teixeira, Carmen Jerónimo, Carla Bartosch
Currently, uveal melanoma is not considered within the Lynch syndrome tumor spectrum. However, there are studies suggesting a contribution of microsatellite instability in sporadic uveal melanoma tumorigenesis. We report a 45-year-old woman who was referred for genetic counseling due to a family history of Lynch syndrome caused by a MLH1 mutation. She originally underwent enucleation of the right eye secondary to a uveal spindle cell melanoma diagnosed at age 25. The tumor recurred 22 years later presenting as an ovarian metastasis and concurrently a microscopic endometrial endometrioid carcinoma, grade 1/3 was diagnosed...
December 3, 2016: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/27915419/necrotizing-meningoencephalitis-caused-by-sarcocystis-falcatula-in-bare-faced-ibis-phimosus-infuscatus
#9
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/27915389/insertion-sequences-enrichment-in-extreme-red-sea-brine-pool-vent
#10
Ali H A Elbehery, Ramy K Aziz, Rania Siam
Mobile genetic elements are major agents of genome diversification and evolution. Limited studies addressed their characteristics, including abundance, and role in extreme habitats. One of the rare natural habitats exposed to multiple-extreme conditions, including high temperature, salinity and concentration of heavy metals, are the Red Sea brine pools. We assessed the abundance and distribution of different mobile genetic elements in four Red Sea brine pools including the world's largest known multiple-extreme deep-sea environment, the Red Sea Atlantis II Deep...
December 3, 2016: Extremophiles: Life Under Extreme Conditions
https://www.readbyqxmd.com/read/27915380/proteins-interacting-with-crea-and-creb-in-the-carbon-catabolite-repression-network-in-aspergillus-nidulans
#11
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
#12
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
#13
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
#14
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/27915288/modification-of-orthogonal-trnas-unexpected-consequences-for-sense-codon-reassignment
#15
Wil Biddle, Margaret A Schmitt, John D Fisk
Breaking the degeneracy of the genetic code via sense codon reassignment has emerged as a way to incorporate multiple copies of multiple non-canonical amino acids into a protein of interest. Here, we report the modification of a normally orthogonal tRNA by a host enzyme and show that this adventitious modification has a direct impact on the activity of the orthogonal tRNA in translation. We observed nearly equal decoding of both histidine codons, CAU and CAC, by an engineered orthogonal M. jannaschii tRNA with an AUG anticodon: tRNA(Opt) We suspected a modification of the tRNA(Opt)AUG anticodon was responsible for the anomalous lack of codon discrimination and demonstrate that adenosine 34 of tRNA(Opt)AUG is converted to inosine...
December 1, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27915266/systematic-ajmaline-challenge-in-patients-with-long-qt-3-syndrome-caused-by-the-most-common-mutation-a-multicentre-study
#16
Stephan Hohmann, Boris Rudic, Torsten Konrad, David Duncker, Thorben König, Erol Tülümen, Thomas Rostock, Martin Borggrefe, Christian Veltmann
AIMS: Overlap syndromes of long QT 3 syndrome (LQT3) and the Brugada syndrome (BrS) have been reported. Identification of patients with an overlapping phenotype is crucial before initiation of Class I antiarrhythmic drugs for LQT3. Aim of the present study was to elucidate the yield of ajmaline challenge in unmasking the Brugada phenotype in patients with LQT3 caused by the most common mutation, SCN5A-E1784K. METHODS AND RESULTS: Consecutive families in tertiary referral centres diagnosed with LQT3 caused by SCN5A-E1784K were included in the study...
December 2, 2016: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/27915251/identification-of-a-campylobacter-coli-methyltransferase-targeting-adenines-at-gatc-sites
#17
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
#18
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/27915218/parental-bonding-and-hoarding-in-obsessive-compulsive-disorder
#19
David Chen, O Joseph Bienvenu, Janice Krasnow, Ying Wang, Marco A Grados, Bernadette Cullen, Fernando S Goes, Brion Maher, Benjamin D Greenberg, Nicole C McLaughlin, Steven A Rasmussen, Abby J Fyer, James A Knowles, James T McCracken, John Piacentini, Dan Geller, David L Pauls, S Evelyn Stewart, Dennis L Murphy, Yin-Yao Shugart, Mark A Riddle, Gerald Nestadt, Jack Samuels
BACKGROUND: Hoarding behavior may indicate a clinically and possibly etiologically distinct subtype of obsessive-compulsive disorder (OCD). Empirical evidence supports a relationship between hoarding and emotional over-attachment to objects. However, little is known about the relationship between hoarding and parental attachment in OCD. METHOD: The study sample included 894 adults diagnosed with DSM-IV OCD who had participated in family and genetic studies of OCD...
November 14, 2016: Comprehensive Psychiatry
https://www.readbyqxmd.com/read/27915167/examining-fkbp5-mrna-expression-in-human-ipsc-derived-neural-cells
#20
Richard Lieberman, Henry R Kranzler, Eric S Levine, Jonathan Covault
In peripheral blood leukocytes, FKBP5 mRNA expression is upregulated following glucocorticoid receptor activation. The single nucleotide polymorphism rs1360780 in FKBP5 is associated with psychiatric illness and has functional molecular effects. However, examination of FKBP5 regulation has largely been limited to peripheral cells, which may not reflect regulation in neural cells. We used 27 human induced pluripotent stem cell lines (iPSCs) derived from 20 subjects to examine FKBP5 mRNA expression following GR activation...
November 24, 2016: Psychiatry Research
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