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https://www.readbyqxmd.com/read/28346922/epigenetics-in-gastrointestinal-health-and-disease-spotlight-on-dna-methylation-in-the-intestinal-epithelium
#1
Matthias Zilbauer, Judith Kraiczy
Epigenetics can be defined as stable, potentially heritable changes in cellular phenotype caused by mechanisms other than alterations in the underlying DNA sequence. DNA methylation is amongst the most intensely studied epigenetic mechanisms and has been shown to play a major role in regulating fundamental aspects of cell biology including cellular differentiation, organ development, and cell type-specific gene expression. Importantly, it is becoming increasingly clear that epigenetic mechanisms operate at the interface between the genetic code and our environment and are able to mediate environmental changes into stable phenotypic alterations...
2017: Nestlé Nutrition Institute Workshop Series
https://www.readbyqxmd.com/read/28346670/neospora-caninum-in-beef-herds-in-new-south-wales-australia-2-analysis-of-risk-factors
#2
B J Moloney, C Heuer, P D Kirkland
OBJECTIVE: To determine the influence of farm-level and animal-level factors on the seroprevalence of antibodies to Neospora caninum and associations between seropositivity and reproductive outcomes. METHODS: A questionnaire for a cross-sectional survey was posted to the 63 properties with a herd size ≥50 beef breeding cows that had participated in a previous seroprevalence study. Correspondence analysis, which does not appear to have been used previously in any Australian studies of livestock diseases, was used in conjunction with logistic regression to analyse the data...
April 2017: Australian Veterinary Journal
https://www.readbyqxmd.com/read/28346491/a-genetic-switch-controls-the-production-of-flagella-and-toxins-in-clostridium-difficile
#3
Brandon R Anjuwon-Foster, Rita Tamayo
In the human intestinal pathogen Clostridium difficile, flagella promote adherence to intestinal epithelial cells. Flagellar gene expression also indirectly impacts production of the glucosylating toxins, which are essential to diarrheal disease development. Thus, factors that regulate the expression of the flgB operon will likely impact toxin production in addition to flagellar motility. Here, we report the identification a "flagellar switch" that controls the phase variable production of flagella and glucosylating toxins...
March 27, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28346436/detailed-comparison-of-retroviral-vectors-and-promoter-configurations-for-stable-and-high-transgene-expression-in-human-induced-pluripotent-stem-cells
#4
D Hoffmann, J W Schott, F K Geis, L Lange, F-J Müller, D Lenz, D Zychlinski, D Steinemann, M Morgan, T Moritz, A Schambach
Correction of patient-specific induced pluripotent stem cells (iPSC) upon gene delivery through retroviral vectors offers new treatment perspectives for monogenetic diseases. Gene-modified iPSC clones can be screened for safe integration sites and differentiated into transplantable cells of interest. However, the current bottleneck is epigenetic vector silencing. In order to identify the most suitable retroviral expression system in iPSC, we systematically compared vectors from different retroviral genera, different promoters and their combination with ubiquitous chromatin opening elements (UCOE), and several envelope pseudotypes...
March 27, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28346424/skp2-deficiency-restricts-the-progression-and-stem-cell-features-of-castration-resistant-prostate-cancer-by-destabilizing-twist
#5
D Ruan, J He, C-F Li, H-J Lee, J Liu, H-K Lin, C-H Chan
Castration-resistant prostate cancer (CRPC) remains a major clinical challenge because of the lack of effective targeted therapy for its treatment. The mechanism underlying how CRPC gains resistance toward hormone depletion and other forms of chemotherapy is poorly understood. Research on understanding the factors that drive these processes is desperately needed to generate new therapies to cure the disease. Here, we discovered a fundamental role of S-phase protein kinase 2 (Skp2) in the formation and progression of CRPC...
March 27, 2017: Oncogene
https://www.readbyqxmd.com/read/28346370/de-novo-assembly-annotation-and-characterization-of-root-transcriptomes-of-three-caladium-cultivars-with-a-focus-on-necrotrophic-pathogen-resistance-defense-related-genes
#6
Zhe Cao, Zhanao Deng
Roots are vital to plant survival and crop yield, yet few efforts have been made to characterize the expressed genes in the roots of non-model plants (root transcriptomes). This study was conducted to sequence, assemble, annotate, and characterize the root transcriptomes of three caladium cultivars (Caladium × hortulanum) using RNA-Seq. The caladium cultivars used in this study have different levels of resistance to Pythiummyriotylum, the most damaging necrotrophic pathogen to caladium roots. Forty-six to 61 million clean reads were obtained for each caladium root transcriptome...
March 27, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28346368/pathophysiological-significance-of-dermatan-sulfate-proteoglycans-revealed-by-human-genetic-disorders
#7
REVIEW
Shuji Mizumoto, Tomoki Kosho, Shuhei Yamada, Kazuyuki Sugahara
The indispensable roles of dermatan sulfate-proteoglycans (DS-PGs) have been demonstrated in various biological events including construction of the extracellular matrix and cell signaling through interactions with collagen and transforming growth factor-β, respectively. Defects in the core proteins of DS-PGs such as decorin and biglycan cause congenital stromal dystrophy of the cornea, spondyloepimetaphyseal dysplasia, and Meester-Loeys syndrome. Furthermore, mutations in human genes encoding the glycosyltransferases, epimerases, and sulfotransferases responsible for the biosynthesis of DS chains cause connective tissue disorders including Ehlers-Danlos syndrome and spondyloepimetaphyseal dysplasia with joint laxity characterized by skin hyperextensibility, joint hypermobility, and tissue fragility, and by severe skeletal disorders such as kyphoscoliosis, short trunk, dislocation, and joint laxity...
March 27, 2017: Pharmaceuticals
https://www.readbyqxmd.com/read/28346228/somatic-mutations-and-progressive-monosomy-modify-samd9-related-phenotypes-in-humans
#8
Federica Buonocore, Peter Kühnen, Jenifer P Suntharalingham, Ignacio Del Valle, Martin Digweed, Harald Stachelscheid, Noushafarin Khajavi, Mohammed Didi, Angela F Brady, Oliver Blankenstein, Annie M Procter, Paul Dimitri, Jerry K H Wales, Paolo Ghirri, Dieter Knöbl, Brigitte Strahm, Miriam Erlacher, Marcin W Wlodarski, Wei Chen, George K Kokai, Glenn Anderson, Deborah Morrogh, Dale A Moulding, Shane A McKee, Charlotte M Niemeyer, Annette Grüters, John C Achermann
It is well established that somatic genomic changes can influence phenotypes in cancer, but the role of adaptive changes in developmental disorders is less well understood. Here we have used next-generation sequencing approaches to identify de novo heterozygous mutations in sterile α motif domain-containing protein 9 (SAMD9, located on chromosome 7q21.2) in 8 children with a multisystem disorder termed MIRAGE syndrome that is characterized by intrauterine growth restriction (IUGR) with gonadal, adrenal, and bone marrow failure, predisposition to infections, and high mortality...
March 27, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28346097/an-optimized-3d-coculture-assay-for-preclinical-testing-of-pro-and-antiangiogenic-drugs
#9
Daniela Unterleuthner, Nina Kramer, Karoline Pudelko, Alexandra Burian, Markus Hengstschläger, Helmut Dolznig
Angiogenesis is a promising target for anticancer therapies, but also for treating other diseases with pathologic vessel development. Targeting the vascular endothelial growth factor (VEGF) pathway did not proof as effective as expected due to emerging intrinsic resistance mechanisms, as well as stromal contributions leading to drug insensitivity. Therefore, alternative strategies affecting the interaction of endothelial cells (ECs) with other stromal cells seem to be more promising. Human preclinical in vitro angiogenesis models successfully recapitulating these interactions are rare, and two-dimensional (2D) cell cultures cannot mimic tissue architecture in vivo...
January 1, 2017: SLAS Discov
https://www.readbyqxmd.com/read/28346094/drug-library-screening-for-the-identification-of-ionophores-that-correct-the-mistrafficking-disorder-associated-with-oxalosis-kidney-disease
#10
Shurong Hou, Franck Madoux, Louis Scampavia, Jo Ann Janovick, P Michael Conn, Timothy P Spicer
Primary hyperoxaluria is the underlying cause of oxalosis and is a life-threatening autosomal recessive disease, for which treatment may require dialysis or dual liver-kidney transplantation. The most common primary hyperoxaluria type 1 (PH1) is caused by genetic mutations of a liver-specific enzyme alanine:glyoxylate aminotransferase (AGT), which results in the misrouting of AGT from the peroxisomes to the mitochondria. Pharmacoperones are small molecules with the ability to modify misfolded proteins and route them correctly within the cells, which may present an effective strategy to treat AGT misrouting in PH1 disorders...
January 1, 2017: SLAS Discov
https://www.readbyqxmd.com/read/28346058/promising-pharmacogenetic-targets-for-treating-alcohol-use-disorder-evidence-from-preclinical-models
#11
Jennifer A Rinker, Patrick J Mulholland
Inherited genetic variants contribute to risk factors for developing an alcohol use disorder, and polymorphisms may inform precision medicine strategies for treating alcohol addiction. Targeting genetic mutations linked to alcohol phenotypes has provided promising initial evidence for reducing relapse rates in alcoholics. Although successful in some studies, there are conflicting findings and the reports of adverse effects may ultimately limit their clinical utility, suggesting that novel pharmacogenetic targets are necessary to advance precision medicine approaches...
March 27, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28346055/a-to-i-editing-in-disease-is-not-fake-news
#12
Prajakta Bajad, Michael F Jantsch, Liam Keegan, Mary O'Connell
Adenosine deaminases acting on RNA (ADARs) are zinc-containing enzymes that deaminate adenosine bases to inosines within dsRNA regions in transcripts. In short, structured dsRNA hairpins individual adenosine bases may be targeted specifically and edited with up to one hundred percent efficiency, leading to the production of alternative protein variants. However, the majority of editing events occur within longer stretches of dsRNA formed by pairing of repetitive sequences. Here, many different adenosine bases are potential targets but editing efficiency is usually much lower...
March 27, 2017: RNA Biology
https://www.readbyqxmd.com/read/28345823/mutation-analysis-of-isocitrate-dehydrogenase-idh1-2-and-dna-methyltransferase-3a-dnmt3a-in-thai-patients-with-newly-diagnosed-acute-myeloid-leukemia
#13
Tanasan Sirirat, Suporn Chuncharunee, Pimjai Nipaluk, Teerapong Siriboonpiputtana, Takol Chareonsirisuthigul, Nittaya Limsuwannachot, Budsaba Rerkamnuaychoke
Acute myeloid leukemia (AML) is a clonal hematopoietic stem/progenitor cell disorder which features several genetic mutations. Recurrent genetic alterations identified in AML are recognized as causes of the disease, finding application as diagnostic, prognostic and monitoring markers, with potential use as targets for cancer therapy. Here, we performed a pyrosequencing technique to investigate common mutations of IDH1, IDH2 and DNMT3A in 81 newly diagnosed AML patients. The prevalences of IDH1, IDH2 and DNMT3A mutations were 6...
February 1, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/28345639/genomic-characterization-of-nontuberculous-mycobacteria
#14
Tarcisio Fedrizzi, Conor J Meehan, Antonella Grottola, Elisabetta Giacobazzi, Giulia Fregni Serpini, Sara Tagliazucchi, Anna Fabio, Clotilde Bettua, Roberto Bertorelli, Veronica De Sanctis, Fabio Rumpianesi, Monica Pecorari, Olivier Jousson, Enrico Tortoli, Nicola Segata
Mycobacterium tuberculosis and Mycobacterium leprae have remained, for many years, the primary species of the genus Mycobacterium of clinical and microbiological interest. The other members of the genus, referred to as nontuberculous mycobacteria (NTM), have long been underinvestigated. In the last decades, however, the number of reports linking various NTM species with human diseases has steadily increased and treatment difficulties have emerged. Despite the availability of whole genome sequencing technologies, limited effort has been devoted to the genetic characterization of NTM species...
March 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28345383/pulmonary-fibrosis-part-i-epidemiology-pathogenesis-and-diagnosis
#15
Keith C Meyer
Many forms of interstitial lung disease (ILD) can progress to extensive fibrosis and respiratory failure. Idiopathic pulmonary fibrosis (IPF), which generally has a poor prognosis, has been thoroughly studied over the past two decades, and many important discoveries have been made that pertain to genetic predisposition, epidemiology, disease pathogenesis, diagnosis, and management. Additionally, non-IPF forms of ILD can have radiologic and histopathologic manifestations that mimic IPF, and making an accurate diagnosis is key to providing personalized medicine to patients with pulmonary fibrosis...
March 26, 2017: Expert Review of Respiratory Medicine
https://www.readbyqxmd.com/read/28345224/involvement-of-multiple-chlamydia-suis-genotypes-in-porcine-conjunctivitis
#16
R Chahota, H Ogawa, K Ohya, T Yamaguchi, K D E Everett, H Fukushi
Chlamydia suis has been detected in numerous disease conditions of pigs, particularly in eye infections. This study examined recurring conjunctivitis cases in five commercial pig farms in Japan. 40.5% of the cases were identified as Chlamydia positive using impression cytology of ocular smears and a genus-specific direct fluorescent antibody. C. suis was detected in 59.5% of the samples using PCR tests targeting 16S-23S rRNA intergenic spacer region (ISR) and ompA gene. Genetic analysis of PCR amplicons revealed nine sequence variants of 16S-23S rRNA ISR and 20 sequence variants within ompA gene...
March 27, 2017: Transboundary and Emerging Diseases
https://www.readbyqxmd.com/read/28345177/pharmacogenomics-of-off-target-adrs
#17
REVIEW
Sarah L Garon, Rebecca K Pavlos, Katie D White, Nancy J Brown, Cosby A Stone, Elizabeth J Phillips
Off-target adverse drug reactions (ADRs) are associated with significant morbidity and costs to the healthcare system and their occurrence is not predictable based on the known pharmacological action of the drug's therapeutic effect. Off-target ADRs may or may not be associated with immunological memory although they can manifest with a variety of shared clinical features including maculopapular exanthema, severe cutaneous adverse reactions (SCARs), angioedema, pruritus, and bronchospasm. Discovery of specific genes associated with a particular ADR phenotype is a foundational component of clinical translation into screening programs for their prevention...
March 26, 2017: British Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28345121/outcomes-of-a-randomized-controlled-trial-of-genomic-counseling-for-patients-receiving-personalized-and-actionable-complex-disease-reports
#18
Kevin Sweet, Amy C Sturm, Tara Schmidlen, Joseph McElroy, Laura Scheinfeldt, Kandamurugu Manickam, Erynn S Gordon, Shelly Hovick, J Scott Roberts, Amanda Ewart Toland, Michael Christman
There has been very limited study of patients with chronic disease receiving potentially actionable genomic based results or the utilization of genetic counselors in the online result delivery process. We conducted a randomized controlled trial on 199 patients with chronic disease each receiving eight personalized and actionable complex disease reports online. Primary study aims were to assess the impact of in-person genomic counseling on 1) causal attribution of disease risk, 2) personal awareness of disease risk, and 3) perceived risk of developing a particular disease...
March 27, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28345042/human-genetic-and-metabolite-variation-reveals-that-methylthioadenosine-is-a-prognostic-biomarker-and-an-inflammatory-regulator-in-sepsis
#19
Liuyang Wang, Emily R Ko, James J Gilchrist, Kelly J Pittman, Anna Rautanen, Matti Pirinen, J Will Thompson, Laura G Dubois, Raymond J Langley, Sarah L Jaslow, Raul E Salinas, D Clayburn Rouse, M Arthur Moseley, Salim Mwarumba, Patricia Njuguna, Neema Mturi, Thomas N Williams, J Anthony G Scott, Adrian V S Hill, Christopher W Woods, Geoffrey S Ginsburg, Ephraim L Tsalik, Dennis C Ko
Sepsis is a deleterious inflammatory response to infection with high mortality. Reliable sepsis biomarkers could improve diagnosis, prognosis, and treatment. Integration of human genetics, patient metabolite and cytokine measurements, and testing in a mouse model demonstrate that the methionine salvage pathway is a regulator of sepsis that can accurately predict prognosis in patients. Pathway-based genome-wide association analysis of nontyphoidal Salmonella bacteremia showed a strong enrichment for single-nucleotide polymorphisms near the components of the methionine salvage pathway...
March 2017: Science Advances
https://www.readbyqxmd.com/read/28344932/mutation-in-tnxb-gene-causes-moderate-to-severe-ehlers-danlos-syndrome
#20
Carolyn S Kaufman, Merlin G Butler
We report a 28-year-old female who presented with severe joint pain, chronic muscle weakness, Raynaud's phenomenon, and hypermobility. She was found to have a 6074A > T nucleotide transition in the TNXB gene causing an amino acid protein change at Asp2025Val classified as likely pathogenic. We add this clinical report to the literature and classical human disease gene catalogs to identify this specific mutation as disease-causing. This gene variant was reported previously in a different 36-year-old patient who shared our patient's symptoms of joint hypermobility, skeletal and joint pain, skin elasticity and musculoskeletal problems, thereby causing a more severe presentation than seen in the hypermobility type of Ehlers-Danlos syndrome (EDS)...
May 27, 2016: World J Med Genet
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