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https://www.readbyqxmd.com/read/29149730/divergence-of-insulin-superfamily-ligands-receptors-and-igf-binding-proteins-in-marine-versus-freshwater-stickleback-evidence-of-selection-in-known-and-novel-genes
#1
Tim Pellissier, Hend Al Nafea, Sara V Good
Three-spine stickleback (Gasterosteus aculeatus) is a teleost model for understanding genetic, physiological and morphological changes accompanying freshwater (FW) adaptation. There is growing evidence that the insulin superfamily plays important roles in traits involved in marine and FW adaptation. We performed a candidate gene analysis to look for evidence of selection on 33 insulin superfamily ligand-receptor genes and insulin-like growth factor binding proteins (Igfbp's) in stickleback. Using genotype data from 11 marine and 10 FW populations, we calculated the number of SNPs per site in regulatory and intronic regions, the number of synonymous and nonsynonymous mutations in coding regions, Wright's fixation index (Fst), and performed t-tests to identify SNPs with divergent genotype frequencies between marine/FW versus Atlantic/Pacific populations...
November 10, 2017: Comparative Biochemistry and Physiology. Part D, Genomics & Proteomics
https://www.readbyqxmd.com/read/29149369/the-osps1-f-gene-regulates-growth-and-development-in-rice-by-modulating-photosynthetic-electron-transport-rate
#2
Rengasamy Ramamoorthy, Bhushan Vishal, Srinivasan Ramachandran, Prakash P Kumar
Ds insertion in rice OsPS1-F gene results in semi-dwarf plants with reduced tiller number and grain yield, while genetic complementation with OsPS1-F rescued the mutant phenotype. Photosynthetic electron transport is regulated in the chloroplast thylakoid membrane by multi-protein complexes. Studies about photosynthetic machinery and its subunits in crop plants are necessary, because they could be crucial for yield enhancement in the long term. Here, we report the characterization of OsPS1-F (encoding Oryza sativa PHOTOSYSTEM 1-F subunit) using a single copy Ds insertion rice mutant line...
November 17, 2017: Plant Cell Reports
https://www.readbyqxmd.com/read/29149249/human-accelerated-regions-and-other-human-specific-sequence-variations-in-the-context-of-evolution-and-their-relevance-for-brain-development
#3
Anastasia Levchenko, Alexander Kanapin, Anastasia Samsonova, Raul Gainetdinov
The review discusses, in a format of a timeline, the studies of different types of genetic variants, present in Homo sapiens, but absent in all other primate, mammalian or vertebrate species, tested so far. The main characteristic of these variants is that they are found in regions of high evolutionary conservation. These sequence variations include single nucleotide substitutions (called human accelerated regions), deletions and segmental duplications. The rationale for finding such variations in the human genome is that they could be responsible for traits, specific to our species, of which the human brain is the most remarkable...
November 14, 2017: Genome Biology and Evolution
https://www.readbyqxmd.com/read/29149236/mutations-affecting-glycinergic-neurotransmission-in-hyperekplexia-increase-pain-sensitivity
#4
Pascal Henri Vuilleumier, Raphael Fritsche, Jürg Schliessbach, Bernhard Schmitt, Lars Arendt-Nielsen, Hanns Ulrich Zeilhofer, Michele Curatolo
Inhibitory interneurons in the spinal cord use glycine and GABA for fast inhibitory neurotransmission. While there is abundant research on these inhibitory pain pathways in animal models, their relevance in humans remains unclear, largely due to the limited possibility to manipulate selectively these pathways in humans. Hyperekplexia is a rare human disease that is caused by loss-of-function mutations in genes encoding for glycine receptors and glycine transporters. In the present study, we tested whether hyperekplexia patients display altered pain perception or central pain modulation compared with healthy subjects...
November 15, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29149188/orienting-the-causal-relationship-between-imprecisely-measured-traits-using-gwas-summary-data
#5
Gibran Hemani, Kate Tilling, George Davey Smith
Inference about the causal structure that induces correlations between two traits can be achieved by combining genetic associations with a mediation-based approach, as is done in the causal inference test (CIT). However, we show that measurement error in the phenotypes can lead to the CIT inferring the wrong causal direction, and that increasing sample sizes has the adverse effect of increasing confidence in the wrong answer. This problem is likely to be general to other mediation-based approaches. Here we introduce an extension to Mendelian randomisation, a method that uses genetic associations in an instrumentation framework, that enables inference of the causal direction between traits, with some advantages...
November 17, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29149131/genetics-and-genomics-an-oncology-nurse-s-journey-in-practice
#6
Suzanne M Mahon
BACKGROUND: Cancer genetics and genomics are now an integral component of oncology care. Genetics and genomics guide recommendations not only for cancer prevention and early detection, but also for cancer treatment. 
. OBJECTIVES: This article documents the personal experiences of an oncology nurse who has worked in cancer prevention and early detection since the 1990s and describes the many changes that have occurred in cancer-related genetic and genomic care during that time...
December 1, 2017: Clinical Journal of Oncology Nursing
https://www.readbyqxmd.com/read/29149130/errors-in-genetic-testing-common-causes-and-strategies-for-prevention
#7
Suzanne M Mahon
Genetic testing for hereditary cancer syndromes is an integral component of oncology care. Various types of common errors that occur in the genetic testing process are presented in this article with actual clinical case examples and commentary. Genetic errors are expensive and may result in poor outcomes for the patient and his or her family. Oncology nurses need to be aware of potential sources of error and advocate for comprehensive genetic care.
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December 1, 2017: Clinical Journal of Oncology Nursing
https://www.readbyqxmd.com/read/29149126/pharmacogenomics-principles-and-relevance-to-oncology-nursing%C3%A2
#8
Crystal H Dodson
BACKGROUND: Pharmacogenomics is the fastest growing field in precision medicine. Based on current use, oncology encompasses the largest share of the precision medicine market, necessitating that oncology nurses understand the principles of pharmacogenomics and how it affects clinical practice.
. OBJECTIVES: This article will define precision medicine and pharmacogenomics and will provide examples of pharmacogenomic tests, including those associated with tumor markers, and nursing implications...
December 1, 2017: Clinical Journal of Oncology Nursing
https://www.readbyqxmd.com/read/29149121/ethics-and-genetics-examining-a-crossroads-in-nursing-through-a-case-study%C3%A2
#9
Laura Curr Curr Beamer
BACKGROUND: The field of genetics and genomics is rapidly expanding, particularly in oncology. Genetics and genomics can lead to ethical concerns. Oncology nurses must balance the need for evidence-based oncology care with that of ethical care for patients and their family members. OBJECTIVES: The purpose of this article is to provide an overview of cancer genetics and ethics and their impact on oncology nurses, patients, and families. METHODS: A case study of familial adenomatous polyposis (FAP) is offered to illustrate the impact of a hereditary cancer syndrome on several generations of a family and ethical issues surrounding cancer genetics...
December 1, 2017: Clinical Journal of Oncology Nursing
https://www.readbyqxmd.com/read/29149042/comparative-study-of-biological-activities-of-venom-from-colubrid-snakes-rhabdophis-tigrinus-yamakagashi-and-rhabdophis-lateralis
#10
Yumiko Komori, Toru Hifumi, Akihiko Yamamoto, Atsushi Sakai, Manabu Ato, Kyoko Sawabe, Toshiaki Nikai
Rhabdophis lateralis, a colubrid snake distributed throughout the continent of Asia, has recently undergone taxonomic revisions. Previously, Rhabdophis lateralis was classified as a subspecies of R. tigrinus (Yamakagashi) until 2012, when several genetic differences were discovered which classified this snake as its own species. To elucidate the toxicity of venom from this poorly studied colubrid, various biological activities were compared between the venom from the two snake species. The components of their venom were compared by the elution profiles of reversed-phase HPLC and SDS-PAGE, and gel filtrated fractions were tested for effects on blood coagulation...
November 17, 2017: Toxins
https://www.readbyqxmd.com/read/29149023/antibiotic-susceptibility-genetic-diversity-and-the-presence-of-toxin-producing-genes-in-campylobacter-isolates-from-poultry
#11
Jeeyeon Lee, Jiyeon Jeong, Heeyoung Lee, Jimyeong Ha, Sejeong Kim, Yukyung Choi, Hyemin Oh, Kunho Seo, Yohan Yoon, Soomin Lee
This study examined antibiotic susceptibility, genetic diversity, and characteristics of virulence genes in Campylobacter isolates from poultry. Chicken (n = 152) and duck (n = 154) samples were collected from 18 wet markets in Korea. Campylobacter spp. isolated from the carcasses were identified by PCR. The isolated colonies were analyzed for antibiotic susceptibility to chloramphenicol, amikacin, erythromycin, tetracycline, ciprofloxacin, nalidixic acid, and enrofloxacin. The isolates were also used to analyze genetic diversity using the DiversiLab(TM) system and were tested for the presence of cytolethal distending toxin (cdt) genes...
November 17, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29148887/wild-birds-as-a-potential-source-of-known-and-novel-multilocus-sequence-types-of-antibiotic-resistant-enterococcus-faecalis
#12
Dagmara Stępień-Pyśniak, Tomasz Hauschild, Anna Nowaczek, Agnieszka Marek, Marta Dec
We assessed the antibiotic resistance and genetic diversity of 27 Enterococcus faecalis isolates from 25 wild bird species in Poland. Resistance to lincomycin (100%) was most common followed by tetracycline (48%), erythromycin (44%), and ciprofloxacin (22%). High-level resistance to streptomycin and kanamycin was observed in 19 and 15% of isolates, respectively. One isolate (4%) exhibited low-level resistance to penicillin and vancomycin, and all isolates were susceptible to gentamicin and chloramphenicol. Antibiotic resistance was linked to the tet(M), tet(L), erm(A), erm(B), msr(A/B), ant(6)-Ia, and aph(3')-IIIa genes...
November 17, 2017: Journal of Wildlife Diseases
https://www.readbyqxmd.com/read/29148569/exome-sequence-analysis-and-follow-up-genotyping-implicates-rare-ulk1-variants-to-be-involved-in-susceptibility-to-schizophrenia
#13
Mariam M Al Eissa, Alessia Fiorentino, Sally I Sharp, Niamh L O'Brien, Kate Wolfe, Giovanni Giaroli, David Curtis, Nicholas J Bass, Andrew McQuillin
Schizophrenia (SCZ) is a severe, highly heritable psychiatric disorder. Elucidation of the genetic architecture of the disorder will facilitate greater understanding of the altered underlying neurobiological mechanisms. The aim of this study was to identify likely aetiological variants in subjects affected with SCZ. Exome sequence data from a SCZ cas-control sample from Sweden was analysed for likely aetiological variants using a weighted burden test. Suggestive evidence implicated the UNC-51-like kinase (ULK1) gene, and it was observed that four rare variants that were more common in the Swedish SCZ cases were also more common in UK10K SCZ cases, as compared to obesity cases...
November 17, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/29148538/molecular-testing-for-braf-mutations-to-inform-melanoma-treatment-decisions-a-move-toward-precision-medicine
#14
Liang Cheng, Antonio Lopez-Beltran, Francesco Massari, Gregory T MacLennan, Rodolfo Montironi
Approximately one-half of advanced (unresectable or metastatic) melanomas harbor a mutation in the BRAF gene, with V600E being the most common mutation. Targeted therapy with BRAF and MEK inhibitors is associated with significant long-term treatment benefit in patients with BRAF V600-mutated melanoma. Therefore, molecular testing for BRAF mutations is a priority in determining the course of therapy. A literature search was performed using MEDLINE/PubMed and scientific congress databases using the terms 'BRAF,' 'mutation,' and 'cancer/tumor...
November 17, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29148534/genetic-testing-of-complement-and-coagulation-pathways-in-patients-with-severe-hypertension-and-renal-microangiopathy
#15
Christopher P Larsen, Jon D Wilson, Alejandro Best-Rocha, Marjorie L Beggs, Randolph A Hennigar
A diagnosis of thrombotic microangiopathy on kidney biopsy in a patient presenting with hypertensive emergency has historically elicited the diagnosis of malignant hypertension-associated thrombotic microangiopathy. Recent studies, however, have raised awareness that a number of these patients may actually represent atypical hemolytic uremic syndrome. To further investigate this premise, we performed next-generation sequencing to interrogate the coding regions of 29 complement and coagulation cascade genes associated with atypical hemolytic uremic syndrome in 100 non-elderly patients presenting with severe hypertension, renal failure and a kidney biopsy showing microangiopathic changes limited to the classic accelerated hypertension-associated lesion of arterial intimal edema ('mucoid intimal hyperplasia') in isolation and without accompanying glomerular microthrombi...
November 17, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29148115/the-actionability-of-exome-sequencing-testing-results
#16
Tanya Stivers, Stefan Timmermans
Genomic tests such as exome sequencing have recently become an option for diagnosing patients. The tests allow clinical geneticists to sequence the majority of patients' disease causing genetic variants. As a new technology, exome sequencing confronts the question of what the benefit is of this increased genetic information. Against a narrow perspective of clinical utility that emphasises tangible improvements in a patient's disease management, professional organisations have argued that genomic sequencing should be considered beneficial if it helps families and society...
November 2017: Sociology of Health & Illness
https://www.readbyqxmd.com/read/29148080/genetic-risk-factors-for-perception-of-symptoms-in-gerd-an-observational-cohort-study
#17
A Patel, S Hasak, B D Nix, G S Sayuk, R D Newberry, C P Gyawali
BACKGROUND: Genetic polymorphisms in G-protein beta-3 subunit (GNβ3) and beta-2 adrenergic receptor (ADRB2) are associated with pain and gut hypersensitivity, which can overlap with gastroesophageal reflux disease (GERD). AIM: To evaluate relationships between single nucleotide polymorphisms (SNPs) within GNβ3 and ADRB2 systems, and reflux symptom burden, GERD phenotypes from ambulatory reflux monitoring, and quality of life. METHODS: Symptomatic adults undergoing ambulatory reflux testing were recruited and phenotyped based on acid burden and symptom reflux association; major oesophageal motor disorders and prior foregut surgery were exclusions...
November 17, 2017: Alimentary Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/29147896/genetic-diagnosis-before-surgery-has-an-impact-on-surgical-decision-in-brca-mutation-carriers-with-breast-cancer
#18
Sungmin Park, Jeong Eon Lee, Jai Min Ryu, Issac Kim, Soo Youn Bae, Se Kyung Lee, Jonghan Yu, Seok Won Kim, Seok Jin Nam
BACKGROUND: The first aim of our study was to evaluate surgical decision-making by BRCA mutation carriers with breast cancer based on the timing of knowledge of their BRCA mutation status. The second aim was to evaluate breast cancer outcome following surgical treatment. METHODS: This was a retrospective study of 164 patients diagnosed with invasive breast cancer, tested for BRCA mutation, and treated with primary surgery between 2004 and 2015 at Samsung Medical Center in Seoul, Korea...
November 16, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/29147890/food-allergy-in-children-an-overview
#19
REVIEW
Jaidev M Devdas, Christopher Mckie, Adam T Fox, Vinod H Ratageri
The estimated prevalence of food allergy amongst children in the west is around 6-8% but there is paucity of data in the Indian population. There is a complex interplay of environmental influences and genetic factors in the immuno-pathogenesis and manifestations of food allergy. A reliable thorough clinical history, combined with positive skin prick tests or food-specific IgE, is essential for a more precise diagnosis of food allergy. Currently there is no cure for food allergy. The management of food allergy usually includes strict avoidance, patient education and provision of emergency medication (adrenaline-autoinjectors)...
November 17, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29147782/common-functional-variants-of-the-glutamatergic-system-in-autism-spectrum-disorder-with-high-and-low-intellectual-abilities
#20
Andreas G Chiocchetti, Afsheen Yousaf, Hannah S Bour, Denise Haslinger, Regina Waltes, Eftichia Duketis, Tomas Jarczok, Michael Sachse, Monica Biscaldi, Franziska Degenhardt, Stefan Herms, Sven Cichon, Jörg Ackermann, Ina Koch, Sabine M Klauck, Christine M Freitag
The genetic architecture underlying Autism spectrum disorder (ASD) has been suggested to differ between individuals with lower (IQ ≤ 70; LIQ) and higher intellectual abilities (IQ > 70; HIQ). Among the identified pathomechanisms, the glutamatergic signalling pathway is of specific interest in ASD. We investigated 187 common functional variants of this neurotransmitter system for association with ASD and with symptom severity in two independent samples, a German (German-ALL: N = 583 families) and the Autism Genome Project cohort (AGP-ALL: N = 2001 families), split into HIQ, and LIQ subgroups...
November 16, 2017: Journal of Neural Transmission
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