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Genetic association

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https://www.readbyqxmd.com/read/29351649/sex-dependent-interactions-between-leptin-wasting-and-humoral-immunity-in-two-ethnic-communities-of-school-aged-children-differentially-exposed-to-schistosoma-haematobium
#1
Emmanuel Hermann, Lobna Gaayeb, Papa S Sow, Modou Seck, Andre B Sagna, Simon Senghor, Lydie Bandagny, Clement Brinkhuizen, Delphine Delcroix-Genete, Anne-Marie Schacht, Gilles Riveau
Background: Leptin is a nutritional hormone whose production is generally higher in females. We investigated how leptin is associated with sex dimorphism during urinary schistosomiasis in relation with wasting. Methods: A cross-sectional study was carried out in three villages in northern Senegal. Ninety-eight school-aged children belonging to the Fulani or Wolof villages were enrolled. We performed parasitic diagnosis and anthropometric measurement to evaluate nutritional status...
January 17, 2018: Transactions of the Royal Society of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/29351643/genetic-dissection-of-the-fuzzless-seed-trait-in-gossypium-barbadense
#2
Qian-Hao Zhu, Yuman Yuan, Warwick Stiller, Yinhua Jia, Pengpeng Wang, Zhaoe Pan, Xiongming Du, Danny Llewellyn, Iain Wilson
Cotton fibres are single-celled trichomes arising from the epidermal cells of the seed coat and may be either long (lint) or very short (fuzz). The dominant fuzzless N1 of Gossypium hirsutum is a defective allele of the At-subgenome homoeolog of MYB25-like, but the genetic components underlying the recessive fuzzless trait from G. barbadense (Gb) are unknown. We have identified five genetic loci, including a major contributing locus containing MYB25-like_Dt, associated with Gb fuzzless seeds based on genotyping of fuzzy and fuzzless near isogenic lines (NILs) from an interspecies cross (G...
January 17, 2018: Journal of Experimental Botany
https://www.readbyqxmd.com/read/29351633/evolutionary-genetics-of-cytoplasmic-incompatibility-genes-cifa-and-cifb-in-prophage-wo-of-wolbachia
#3
Amelia R I Lindsey, Danny W Rice, Sarah R Bordenstein, Andrew W Brooks, Seth R Bordenstein, Irene L G Newton
The bacterial endosymbiont Wolbachia manipulates arthropod reproduction to facilitate its maternal spread through host populations. The most common manipulation is cytoplasmic incompatibility (CI): Wolbachia-infected males produce modified sperm that cause embryonic mortality, unless rescued by embryos harboring the same Wolbachia. The genes underlying CI, cifA and cifB, were recently identified in the eukaryotic association module of Wolbachia's prophage WO. Here, we use transcriptomic and genomic approaches to address three important evolutionary facets of the cif genes...
January 17, 2018: Genome Biology and Evolution
https://www.readbyqxmd.com/read/29351591/could-seasonally-deteriorating-environments-favour-the-evolution-of-autogamous-selfing-and-a-drought-escape-physiology-through-indirect-selection-a-test-of-the-time-limitation-hypothesis-using-artificial-selection-in-clarkia
#4
Simon K Emms, Alisa A Hove, Leah S Dudley, Susan J Mazer, Amy S Verhoeven
Background and Aims: The evolution of selfing from outcrossing may be the most common transition in plant reproductive systems and is associated with a variety of ecological circumstances and life history strategies. The most widely discussed explanation for these associations is the reproductive assurance hypothesis - the proposition that selfing is favoured because it increases female fitness when outcross pollen receipt is limited. Here an alternative explanation, the time limitation hypothesis, is addressed, one scenario of which proposes that selfing may evolve as a correlated response to selection for a faster life cycle in seasonally deteriorating environments...
January 17, 2018: Annals of Botany
https://www.readbyqxmd.com/read/29351432/diurnal-pattern-in-skin-na-and-water-content-is-associated-with-salt-sensitive-hypertension-in-etb-receptor-deficient-rats
#5
Joshua S Speed, Kelly A Hyndman, Malgorzata Kasztan, Jermaine G Johnston, Kaehler J Roth, Jens M Titze, David M Pollock
Impairment in the ability of the skin to properly store Na+ non-osmotically (without water) has recently been hypothesized as contributing to salt-sensitive hypertension. Our lab has shown that endothelial production of endothelin-1 (ET-1) is crucial to skin Na+ handling. Further, it is well established that loss of ETB receptor function impairs Na+ excretion by the kidney. Thus we hypothesized that rats lacking functional ETB receptors (ETB def) will have a reduced capacity of the skin to store Na+ during chronic high salt (HS) intake...
December 13, 2017: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
https://www.readbyqxmd.com/read/29351296/hybrid-genome-assembly-and-annotation-of-paenibacillus-pasadenensis-strain-r16-reveals-insights-on-endophytic-life-style-and-antifungal-activity
#6
Alessandro Passera, Luca Marcolungo, Paola Casati, Milena Brasca, Fabio Quaglino, Chiara Cantaloni, Massimo Delledonne
Bacteria of the Paenibacillus genus are becoming important in many fields of science, including agriculture, for their positive effects on the health of plants. However, there are little information available on this genus compared to other bacteria (such as Bacillus or Pseudomonas), especially when considering genomic information. Sequencing the genomes of plant-beneficial bacteria is a crucial step to identify the genetic elements underlying the adaptation to life inside a plant host and, in particular, which of these features determine the differences between a helpful microorganism and a pathogenic one...
2018: PloS One
https://www.readbyqxmd.com/read/29351227/differential-association-of-cx37-and-cx40-genetic-variants-in-atrial-fibrillation-with-and-without-underlying-structural-heart-disease
#7
Sebastian Carballo, Anna Pfenniger, David Carballo, Nicolas Garin, Richard W James, François Mach, Dipen Shah, Brenda R Kwak
Atrial fibrillation (AF) appears in the presence or absence of structural heart disease. The majority of foci causing AF are located near the ostia of pulmonary veins (PVs), where cardiomyocytes and vascular smooth muscle cells interdigitate. Connexins (Cx) form gap junction channels and participate in action potential propagation. Genetic variants in genes encoding Cx40 and Cx37 affect their expression or function and may contribute to PV arrhythmogenicity. DNA was obtained from 196 patients with drug-resistant, symptomatic AF with and without structural heart disease, who were referred for percutaneous catheter ablation...
January 19, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29351172/a-systematic-review-and-meta-analysis-of-genetic-risk-factors-for-neuropathic-pain
#8
Abirami Veluchamy, Harry L Hébert, Weihua Meng, Colin N A Palmer, Blair H Smith
Neuropathic pain (NP) is an increasingly common chronic pain state and a major health burden, affecting approximately 7-10% of the general population. Emerging evidence suggests that genetic factors could partially explain individual susceptibility to NP and the estimated heritability in twins is 37%. The aim of this study was to systematically review and summarize the studies in humans that have investigated the influence of genetic factors associated with NP. We conducted a comprehensive literature search and performed meta-analyses of all the potential genetic variants associated with NP...
January 18, 2018: Pain
https://www.readbyqxmd.com/read/29351036/crouzon-with-acanthosis-nigricans-and-odontogenic-tumors-a-rare-form-of-syndromic-craniosynostosis
#9
Wen Xu, Donna M McDonald-McGinn, Alexandra J Melchiorre, Elaine H Zackai, Scott P Bartlett, Jesse A Taylor
Crouzon syndrome with acanthosis nigricans (CAN) is caused by a mutation in the fibroblast growth factor receptor ( FGFR) 3 gene that presents clinically as Crouzonoid craniofacial features in association with other anomalies such as acanthosis nigricans and benign odontogenic tumors. Diagnosis through the use of genetic mutational analysis is critical, as it alerts the surgeon to the need for careful screening for jaw tumors so that timely treatment in the form of curettage or segmental resection can be provided...
February 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29351011/a-migratory-divide-in-the-painted-bunting-passerina-ciris
#10
C J Battey, Ethan B Linck, Kevin L Epperly, Cooper French, David L Slager, Paul W Sykes, John Klicka
In the painted bunting (Passerina ciris), a North American songbird, populations on the Atlantic coast and interior southern United States are known to be allopatric during the breeding season, but efforts to map connectivity with wintering ranges have been largely inconclusive. Using genomic and morphological data from museum specimens and banded birds, we found evidence of three genetically differentiated painted bunting populations with distinct wintering ranges and molt-migration phenologies. In addition to confirming that the Atlantic coast population remains allopatric throughout the annual cycle, we identified an unexpected migratory divide within the interior breeding range...
February 2018: American Naturalist
https://www.readbyqxmd.com/read/29350705/direct-to-consumer-genetic-testing-helping-patients-make-informed-choices%C3%A2
#11
Suzanne M Mahon
Using direct-to-consumer genetic testing (DTCGT), individuals can order a genetic test, collect and submit a saliva sample, and obtain results about their genetic risk for a variety of traits and health conditions without involving a healthcare provider. Potential benefits of DTCGT include personal control over genetic information and health management decisions, whereas potential risks include misinterpretation of results, psychosocial distress, and lack of informed consent. Oncology nurses can provide education, support, and advocacy to enable patients to truly understand the positives and negatives associated with DTCGT...
February 1, 2018: Clinical Journal of Oncology Nursing
https://www.readbyqxmd.com/read/29350590/human-genetics-and-molecular-mechanisms-of-vein-of-galen-malformation
#12
Daniel Duran, Philipp Karschnia, Jonathan R Gaillard, Jason K Karimy, Mark W Youngblood, Michael L DiLuna, Charles C Matouk, Beverly Aagaard-Kienitz, Edward R Smith, Darren B Orbach, Georges Rodesch, Alejandro Berenstein, Murat Gunel, Kristopher T Kahle
Vein of Galen malformations (VOGMs) are rare developmental cerebrovascular lesions characterized by fistulas between the choroidal circulation and the median prosencephalic vein. Although the treatment of VOGMs has greatly benefited from advances in endovascular therapy, including technical innovation in interventional neuroradiology, many patients are recalcitrant to procedural intervention or lack accessibility to specialized care centers, highlighting the need for improved screening, diagnostics, and therapeutics...
January 19, 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29350495/the-current-landscape-of-3d-in-vitro-tumor-models-what-cancer-hallmarks-are-accessible-for-drug-discovery
#13
REVIEW
Darren Rodenhizer, Teresa Dean, Elisa D'Arcangelo, Alison P McGuigan
Cancer prognosis remains a lottery dependent on cancer type, disease stage at diagnosis, and personal genetics. While investment in research is at an all-time high, new drugs are more likely to fail in clinical trials today than in the 1970s. In this review, a summary of current survival statistics in North America is provided, followed by an overview of the modern drug discovery process, classes of models used throughout different stages, and challenges associated with drug development efficiency are highlighted...
January 19, 2018: Advanced Healthcare Materials
https://www.readbyqxmd.com/read/29350476/investigating-the-mechanisms-underlying-phytoprotection-by-plant-growth-promoting-rhizobacteria-in-spartina-densiflora-under-metal-stress
#14
K Paredes-Páliz, R Rodríguez-Vázquez, B Duarte, M A Caviedes, E Mateos-Naranjo, S Redondo-Gómez, Isabel Caçador, Ignacio D Rodríguez-Llorente, E Pajuelo
Pollution of coasts by toxic metals and metalloids is a worldwide problem for which phytoremediation using halophytes and associated microbiomes is getting relevance. Metal(loid)s excess is a constraint for plant establishment and development, and plant growth promoting rhizobacteria (PGPR) mitigate plant stress under these conditions. However, mechanisms underlying this effect remain elusive. In this paper, the effect of toxic metal(loid)s on the activity of ROS-scavenging enzymes in roots of the halophyte Spartina densiflora grown on real polluted sediments in a green house experiment, was investigated...
January 19, 2018: Plant Biology
https://www.readbyqxmd.com/read/29350448/clinical-and-genetic-associations-for-carboplatin-related-ototoxicity-in-children-treated-for-retinoblastoma-a-retrospective-noncomparative-single-institute-experience
#15
Sameh E Soliman, Crystal N D'Silva, Helen Dimaras, Irakli Dzneladze, Helen Chan, Brenda L Gallie
BACKGROUND: Children with retinoblastoma treated with carboplatin chemotherapy risk moderate to severe, irreversible hearing loss. Based on published evidence, we hypothesized that ototoxicity risk is associated with clinical parameters and variants in candidate genes in drug metabolism pathways (methyltransferases [thiopurine S-methyltransferase, TPMT] and [catechol-O-methyltransferase, COMT], and drug transporter ABCC3). PROCEDURE: We retrospectively reviewed clinical records of patients with retinoblastoma treated with carboplatin chemotherapy regarding age (at diagnosis and chemotherapy initiation), chemotherapy sessions (cycles number, drug doses, and cumulative carboplatin dose), and hearing loss (defined as ototoxicity ≥grade 2 by at least one classification system)...
January 19, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29350440/abrupt-burial-imparts-persistent-changes-to-the-bacterial-diversity-of-turbidite-associated-sediment-profiles
#16
B K Harrison, A Myrbo, B E Flood, J V Bailey
The emplacement of subaqueous gravity-driven sediment flows imposes a significant physical and geochemical impact on underlying sediment and microbial communities. Although previous studies have established lasting mineralogical and biological signatures of turbidite deposition, the response of bacteria and archaea within and beneath debris flows remains poorly constrained. Both bacterial cells associated with the underlying sediment and those attached to allochthonous material must respond to substantially altered environmental conditions and selective pressures...
January 19, 2018: Geobiology
https://www.readbyqxmd.com/read/29350312/genesurance-counseling-patient-perspectives
#17
Chelsea Wagner, Lauren Murphy, Jacqueline Harkenrider, Sandra Darilek, Eleazar Soto-Torres, Quinn Stein, Jennifer Hoskovec
Genetic counselors (GCs) have reported an increase in discussion of insurance-related, or "genesurance," topics during genetic counseling sessions. Despite increasing frequency, there have been no studies examining patient expectations of GCs in these discussions. This study aimed to explore patient expectations of GCs in these discussions, as well as examine factors that may impact expectations. A 38-item survey was administered prior to patients receiving prenatal or cancer genetic counseling at 11 clinic sites across UTHealth, Baylor College of Medicine, and Sanford Health, with 360 responses analyzed...
January 19, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29350269/exome-analysis-in-34-sudden-unexplained-death-sud-victims-mainly-identified-variants-in-channelopathy-associated-genes
#18
Jacqueline Neubauer, Maria Rita Lecca, Giancarlo Russo, Christine Bartsch, Argelia Medeiros-Domingo, Wolfgang Berger, Cordula Haas
Sudden cardiac death (SCD) is one of the major causes of mortality worldwide, mostly involving coronary artery disease in the elderly. In contrary, sudden death events in young victims often represent the first manifestation of undetected genetic cardiac diseases, which remained without any symptoms during lifetime. Approximately 30% of these sudden death cases have no definite cardiac etiology after a comprehensive medicolegal investigation and are therefore termed as sudden unexplained death (SUD) cases. Advances in high-throughput sequencing approaches have provided an efficient diagnostic tool to identify likely pathogenic variants in cardiovascular disease-associated genes in otherwise autopsy-negative SUD cases...
January 19, 2018: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/29350248/natural-variation-and-genetic-make-up-of-leaf-blade-area-in-spring-barley
#19
Ahmad M Alqudah, Helmy M Youssef, Andreas Graner, Thorsten Schnurbusch
GWAS analysis for leaf blade area (LA) revealed intriguing genomic regions associated with putatively novel QTL and known plant stature-related phytohormone and sugar-related genes. Despite long-standing studies in the morpho-physiological characters of leaf blade area (LA) in cereal crops, advanced genetic studies to explore its natural variation are lacking. The importance of modifying LA in improving cereal grain yield and the genes controlling leaf traits have been well studied in rice but not in temperate cereals...
January 19, 2018: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/29350171/the-dna-copy-number-landscape-of-a-collision-tumor
#20
Hugh Kearney, Jane B Cryan, Seamus Looby, Francesca M Brett, Michael A Farrell, Patrick G Buckley
Intracranial collision tumors are composed of two histologically distinct but merging components, and are rare. Their genetic profile has rarely been described. Comparative genome hybridization of a combined meningioma and oligodendroglioma demonstrated deletion of chromosome 22q and of 19q in both tumors. Somatic deletion of chromosome 22q and 19q is associated with development of an intracranial collision tumor.
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January 19, 2018: Clinical Neuropathology
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