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https://www.readbyqxmd.com/read/29673008/a-gwas-meta-analysis-from-5-population-based-cohorts-implicates-ion-channel-genes-in-the-pathogenesis-of-irritable-bowel-syndrome
#1
F Bonfiglio, M Henström, A Nag, F Hadizadeh, T Zheng, M C Cenit, E Tigchelaar, F Williams, A Reznichenko, W E Ek, N V Rivera, G Homuth, A A Aghdassi, T Kacprowski, M Männikkö, V Karhunen, L Bujanda, J Rafter, C Wijmenga, J Ronkainen, P Hysi, A Zhernakova, M D'Amato
BACKGROUND: Irritable bowel syndrome (IBS) shows genetic predisposition, however, large-scale, powered gene mapping studies are lacking. We sought to exploit existing genetic (genotype) and epidemiological (questionnaire) data from a series of population-based cohorts for IBS genome-wide association studies (GWAS) and their meta-analysis. METHODS: Based on questionnaire data compatible with Rome III Criteria, we identified a total of 1335 IBS cases and 9768 asymptomatic individuals from 5 independent European genotyped cohorts...
April 19, 2018: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/29672822/identification-of-novel-diagnostic-biomarkers-for-deep-venous-thrombosis
#2
Ashfaque A Memon, Kristina Sundquist, Mirnabi PirouziFard, Johan L Elf, Karin Strandberg, Peter J Svensson, Jan Sundquist, Bengt Zöller
The combination of a negative D-dimer and a Wells score can rule out, but not confirm, a diagnosis of deep venous thrombosis (DVT). We aimed to identify new diagnostic biomarkers for DVT and to investigate their relationship with hypercoagulability markers [D-dimer and activated protein C-protein C inhibitor (APC-PCI) complex]. We screened 92 cardiovascular-specific proteins in plasma samples from 45 confirmed DVT patients and 45 age- and sex-matched non-DVT patients selected from a prospective multicentre diagnostic management study (SCORE) by Proseek Multiplex CVDIII96×96 ...
April 19, 2018: British Journal of Haematology
https://www.readbyqxmd.com/read/29672680/cognitive-correlates-of-%C3%AE-4%C3%AE-2-nicotinic-acetylcholine-receptors-in-mild-alzheimer-s-dementia
#3
Osama Sabri, Philipp M Meyer, Susanne Gräf, Swen Hesse, Stephan Wilke, Georg-Alexander Becker, Michael Rullmann, Marianne Patt, Julia Luthardt, Gudrun Wagenknecht, Alexander Hoepping, Rene Smits, Annegret Franke, Bernhard Sattler, Solveig Tiepolt, Steffen Fischer, Winnie Deuther-Conrad, Ulrich Hegerl, Henryk Barthel, Peter Schönknecht, Peter Brust
In early Alzheimer's dementia, there is a need for PET biomarkers of disease progression with close associations to cognitive dysfunction that may aid to predict further cognitive decline and neurodegeneration. Amyloid biomarkers are not suitable for that purpose. The α4β2 nicotinic acetylcholine receptors (α4β2-nAChRs) are widely abundant in the human brain. As neuromodulators they play an important role in cognitive functions such as attention, learning and memory. Post-mortem studies reported lower expression of α4β2-nAChRs in more advanced Alzheimer's dementia...
April 17, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29671924/effects-of-syn1-q555x-mutation-on-cortical-gray-matter-microstructure
#4
Jean-François Cabana, Guillaume Gilbert, Laurent Létourneau-Guillon, Dima Safi, Isabelle Rouleau, Patrick Cossette, Dang Khoa Nguyen
A new Q555X mutation on the SYN1 gene was recently found in several members of a family segregating dyslexia, epilepsy, and autism spectrum disorder. To describe the effects of this mutation on cortical gray matter microstructure, we performed a surface-based group study using novel diffusion and quantitative multiparametric imaging on 13 SYN1Q555X mutation carriers and 13 age- and sex-matched controls. Specifically, diffusion kurtosis imaging (DKI) and neurite orientation and dispersion and density imaging (NODDI) were used to analyze multi-shell diffusion data and obtain parametric maps sensitive to tissue structure, while quantitative metrics sensitive to tissue composition (T1, T2* and relative proton density [PD]) were obtained from a multi-echo variable flip angle FLASH acquisition...
April 19, 2018: Human Brain Mapping
https://www.readbyqxmd.com/read/29670627/sex-differences-in-adipose-tissue-cd8-t-cells-and-regulatory-t-cells-in-middle-aged-mice
#5
Hilda Ahnstedt, Meaghan Roy-O'Reilly, Monica S Spychala, Alexis S Mobley, Javiera Bravo-Alegria, Anjali Chauhan, Jaroslaw Aronowski, Sean P Marrelli, Louise D McCullough
The prevalence of cardiovascular disease has increased among middle-aged women in the United States, yet has declined in middle-aged men. In experimental stroke, middle-aged females have larger strokes and greater inflammation than age-matched males or younger females. The mechanism underlying this shift from an "ischemia-protected" to an "ischemia-sensitive" phenotype in aging females is unknown. One potential factor is an age-related increase in systemic factors that induce inflammation...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29669571/sex-differences-in-pulmonary-arterial-hypertension-role-of-infection-and-autoimmunity-in-the-pathogenesis-of-disease
#6
REVIEW
Kyle A Batton, Christopher O Austin, Katelyn A Bruno, Charles D Burger, Brian P Shapiro, DeLisa Fairweather
Registry data worldwide indicate an overall female predominance for pulmonary arterial hypertension (PAH) of 2-4 over men. Genetic predisposition accounts for only 1-5% of PAH cases, while autoimmune diseases and infections are closely linked to PAH. Idiopathic PAH may include patients with undiagnosed autoimmune diseases based on the relatively high presence of autoantibodies in this group. The two largest PAH registries to date report a sex ratio for autoimmune connective tissue disease-associated PAH of 9:1 female to male, highlighting the need for future studies to analyze subgroup data according to sex...
April 18, 2018: Biology of Sex Differences
https://www.readbyqxmd.com/read/29668927/elevated-dual-specificity-protein-phosphatase-4-in-cardiomyopathy-caused-by-lamin-a-c-gene-mutation-is-primarily-erk1-2-dependent-and-its-depletion-improves-cardiac-function-and-survival
#7
Jason C Choi, Wei Wu, Elizabeth Phillips, Robin Plevin, Fusako Sera, Shunichi Homma, Howard J Worman
Mutations in the lamin A/C gene (LMNA) encoding the nuclear intermediate filament proteins lamins A and C cause a group of tissue-selective diseases, the most common of which is dilated cardiomyopathy (herein referred to as LMNA cardiomyopathy) with variable skeletal muscle involvement. We previously showed that cardiomyocyte-specific overexpression of dual specificity protein phosphatase 4 (DUSP4) is involved in the pathogenesis of LMNA cardiomyopathy. However, how mutations in LMNA activate Dusp4 expression and whether it is necessary for the development of LMNA cardiomyopathy are currently unknown...
April 16, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29666585/binding-specificity-of-two-pbps-in-the-yellow-peach-moth-conogethes-punctiferalis-guen%C3%A3-e
#8
Xing Ge, Tofael Ahmed, Tiantao Zhang, Zhenying Wang, Kanglai He, Shuxiong Bai
Pheromone binding proteins (PBPs) play an important role in olfaction of insects by transporting sex pheromones across the sensillum lymph to odorant receptors. To obtain a better understanding of the molecular basis between PBPs and semiochemicals, we have cloned, expressed, and purified two PBPs (CpunPBP2 and CpunPBP5) from the antennae of Conogethes punctiferalis . Fluorescence competitive binding assays were used to investigate binding affinities of CpunPBP2 and CpunPBP5 to sex pheromone and volatiles. Results indicate both CpunPBP2 and CpunPBP5 bind sex pheromones E 10-16:Ald, Z 10-16:Ald and hexadecanal with higher affinities...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/29666581/sex-and-tissue-specific-expression-profiles-of-odorant-binding-protein-and-chemosensory-protein-genes-in-bradysia-odoriphaga-diptera-sciaridae
#9
Yunhe Zhao, Jinfeng Ding, Zhengqun Zhang, Feng Liu, Chenggang Zhou, Wei Mu
Bradysia odoriphaga is an agricultural pest insect affecting the production of Chinese chive and other liliaceous vegetables in China, and it is significantly attracted by sex pheromones and the volatiles derived from host plants. Despite verification of this chemosensory behavior, however, it is still unknown how B. odoriphaga recognizes these volatile compounds on the molecular level. Many of odorant binding proteins (OBPs) and chemosensory proteins (CSPs) play crucial roles in olfactory perception. Here, we identified 49 OBP and 5 CSP genes from the antennae and body transcriptomes of female and male adults of B...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/29666332/expression-profiles-of-amh-and-foxl2-in-schizothorax-kozlovi-and-their-response-to-temperature-during-the-early-developmental-stage
#10
Yongfeng He, Xuge Wang, Xingbing Wu, Yongjiu Zhu, Deguo Yang
To elucidate the role of amh and foxl2 in sex differentiation of the teleost fish Schizothorax kozlovi, the full-length cDNAs were cloned from the mature testis and ovary by rapid amplification of cDNA ends (RACE), and their relative mRNA expression levels were determined by quantitative real-time polymerase chain reaction among tissues and temperature groups. The complete amh and foxl2 cDNAs of S. kozlovi were 2060 bp and 1750 bp, which encoded 568 and 306 amino acids, respectively. The amh were expressed only in gonads, while foxl2 was expressed in the gills, brain and gonads, both exhibiting relatively high tissue specificity...
March 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29661540/mif-functional-polymorphisms-794-catt-5-8-and-173-g-c-are-associated-with-mif-serum-levels-severity-and-progression-in-male-multiple-sclerosis-from-western-mexican-population
#11
V A Castañeda-Moreno, U De la Cruz-Mosso, N Torres-Carrillo, M A Macías-Islas, O Padilla-De la Torre, M A Mireles-Ramírez, O González-Pérez, J L Ruiz-Sandoval, M Huerta, X Trujillo, D Ortuño-Sahagún, Muñoz-Valle Jf
Macrophage migration inhibitory factor (MIF) is a cytokine associated with tissue damage in multiple autoimmune diseases such as systemic lupus erythematosus, rheumatoid arthritis and psoriatic arthritis. The role of MIF in multiple sclerosis (MS) and the contribution of its polymorphisms are unknown in our population. Therefore, we decided to investigate the genetic association of -794 CATT5-8 (rs5844572) and -173 G>C (rs755622) MIF polymorphisms with MS, clinical variables and MIF serum levels in the population of western Mexico...
April 10, 2018: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/29659599/profiling-extracellular-vesicle-release-by-the-filarial-nematode-brugia-malayi-reveals-sex-specific-differences-in-cargo-and-a-sensitivity-to-ivermectin
#12
Hiruni Harischandra, Wang Yuan, Hannah J Loghry, Mostafa Zamanian, Michael J Kimber
The filarial nematode Brugia malayi is an etiological agent of Lymphatic Filariasis. The capability of B. malayi and other parasitic nematodes to modulate host biology is recognized but the mechanisms by which such manipulation occurs are obscure. An emerging paradigm is the release of parasite-derived extracellular vesicles (EV) containing bioactive proteins and small RNA species that allow secretion of parasite effector molecules and their potential trafficking to host tissues. We have previously described EV release from the infectious L3 stage B...
April 16, 2018: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29653306/tissue-specific-distribution-and-bioaccumulation-potential-of-organophosphate-flame-retardants-in-crucian-carp
#13
Gyojin Choo, Hyeon-Seo Cho, Kyunghwa Park, Jae-Woo Lee, Pilje Kim, Jeong-Eun Oh
The concentrations, distributions, and bioaccumulation of nine organophosphate flame retardants (OPFRs) were investigated in both abiotic and biotic media, comprising river water, sediment, and crucian carp. The highest concentrations were observed in liver (6.22-18.1 ng/g ww), and the levels in muscle (4.23-7.75 ng/g ww) and gonad (3.08-7.70 ng/g ww) were similar. In whole blood, tris(2-butoxyethyl) phosphate (TBOEP; 31.1-256 ng/mL) accounted for 90% of the total OPFR concentration. Distributions of OPFRs differed between biotic and abiotic media, as tris(2-chloroethyl) phosphate (TCEP), tris(1-chloro-2-propyl) phosphate (TCIPP), and TBOEP were dominant in abiotic media, whereas triethyl phosphate (TEP), tri-n-butyl phosphate (TNBP), TCEP, and TBOEP dominated in crucian carp...
April 10, 2018: Environmental Pollution
https://www.readbyqxmd.com/read/29650353/reprint-of-environmental-toxicology-and-omics-a-question-of-sex
#14
Xuefang Liang, April Feswick, Denina Simmons, Christopher J Martyniuk
Molecular initiating events and downstream transcriptional/proteomic responses provide valuable information for adverse outcome pathways, which can be used predict the effects of chemicals on physiological systems. There has been a paucity of research that addresses sex-specific expression profiling in toxicology and due to cost, time, and logistic considerations, sex as a variable has not been widely considered. In response to this deficiency, federal agencies in the United States, Canada, and Europe have highlighted the importance of including sex as a variable in scientific investigations...
April 10, 2018: Journal of Proteomics
https://www.readbyqxmd.com/read/29648480/sex-differences-impact-the-lung-bone-inflammatory-response-to-repetitive-inhalant-lipopolysaccharide-exposures-in-mice
#15
Amy J Nelson, Shyamal K Roy, Kristi Warren, Katherine Janike, Geoffrey M Thiele, Ted R Mikuls, Debra J Romberger, Dong Wang, Benjamin Swanson, Jill A Poole
Skeletal health consequences associated with inflammatory diseases of the airways significantly contribute to morbidity. Sex differences have been described independently for lung and bone diseases. Repetitive inhalant exposure to lipopolysaccharide (LPS) induces bone loss and deterioration in male mice, but comparison effects in females are unknown. Using an intranasal inhalation exposure model, 8-week-old C57BL/6 male and female mice were treated daily with LPS (100 ng) or saline for 3 weeks. Bronchoalveolar lavage fluids, lung tissues, tibias, bone marrow cells, and blood were collected...
December 2018: Journal of Immunotoxicology
https://www.readbyqxmd.com/read/29621723/persistent-organic-pollutants-as-predictors-of-increased-fsh-lh-ratio-in-naturally-cycling-reproductive-age-women
#16
Mia V Gallo, Julia Ravenscroft, David O Carpenter, Lawrence M Schell, Akwesasne Task Force On The Environment
Although several recent studies suggest endocrine disrupting compounds, such as polychlorinated biphenyls (PCBs), dichlorodiphenyldichloroethylene (p,p', DDE), and hexachlorobenzene (HCB), target different organs and systems in the body, their impact on female reproductive function in humans is not well characterized. We seek to determine the relationship between several known endocrine disrupting compounds and a marker of ovarian responsivity, the FSH:LH ratio (higher ratio indicates less ovarian responsivity)...
April 2, 2018: Environmental Research
https://www.readbyqxmd.com/read/29620156/expression-and-clinical-significance-of-pd%C3%A2-1-in-hepatocellular-carcinoma-tissues-detected-by-a-novel-mouse-anti-human-pd%C3%A2-1-monoclonal-antibody
#17
Ziwei Li, Bin Li, Dan Peng, Haiyan Xing, Guanying Wang, Pan Li, Jiming Wang, George Ye, Jianhong Chen
Hepatocellular carcinoma (HCC) is one of the most common malignancies and causes of death worldwide. Research investigating novel therapeutic strategies for the treatment of HCC is urgently required. Monoclonal antibodies (mAbs) that target the programmed cell death‑1 (PD‑1/PDCD1)/programmed death-ligand 1 (PD-L1) immune checkpoint have demonstrated substantial clinical benefit for a variety of solid tumors; however, these mAbs have not been well studied in HCC. In the present study, Sp2/0-Ag14 myeloma cells and spleen cells derived from BALB/c mice immunized with the recombinant human PD‑1/PDCD1 protein were fused for the production of novel antibodies...
April 4, 2018: International Journal of Oncology
https://www.readbyqxmd.com/read/29618337/gene-co-expression-networks-in-liver-and-muscle-transcriptome-reveal-sex-specific-gene-expression-in-lambs-fed-with-a-mix-of-essential-oils
#18
Marcella Sabino, Victor Adriano Okstoft Carmelo, Gianluca Mazzoni, Katia Cappelli, Stefano Capomaccio, Paolo Ajmone-Marsan, Andrea Verini-Supplizi, Massimo Trabalza-Marinucci, Haja N Kadarmideen
BACKGROUND: Essential oil (EO) dietary supplementation is a new strategy to improve animal health. EO compounds have antiparasitic, antimicrobial, antiviral, antimycotic, antioxidant and anti-inflammatory proprieties. Nutrigenomics investigations represent innovative approaches in understanding the relation between diet effect and gene expression related to the animal performance. Few nutrigenomics studies have used a high-throughput RNA-Sequencing (RNA-Seq) approach, despite great potential of RNA-Seq data in gene expression quantification and in co-expression network analyses...
April 4, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29616430/gonadal-transcriptome-analysis-of-pacific-abalone-haliotis-discus-discus-identification-of-genes-involved-in-germ-cell-development
#19
Lingyun Yu, Dongdong Xu, Huan Ye, Huamei Yue, Shioh Ooka, Hidehiro Kondo, Ryosuke Yazawa, Yutaka Takeuchi
Little is known about the molecular mechanisms governing gonadal developmental processes in abalones. Here, we conducted transcriptome analysis of Pacific abalone Haliotis discus discus for gene discovery in the brain, ovary, testis, and unfertilized eggs. Among the annotated unigenes, 48.6% of unigenes were identified by Venn diagram analysis as having universal or tissue-specific expression. Twenty-three genes with gonad-biased gene ontology (GO) terms were first obtained. Secondly, 36 genes were found by screening known gene names related to germ cell development...
April 3, 2018: Marine Biotechnology
https://www.readbyqxmd.com/read/29606903/mosaic-brain-aneuploidy-in-mental-illnesses-an-association-of-low-level-post-zygotic-aneuploidy-with-schizophrenia-and-comorbid-psychiatric-disorders
#20
REVIEW
Yuri B Yurov, Svetlana G Vorsanova, Irina A Demidova, Alexei D Kolotii, Ilia V Soloviev, Ivan Y Iourov
Background: Postzygotic chromosomal variation in neuronal cells is hypothesized to make a substantial contribution to the etiology and pathogenesis of neuropsychiatric disorders. However, the role of somatic genome instability and mosaic genome variations in common mental illnesses is a matter of conjecture. Materials and Methods: To estimate the pathogenic burden of somatic chromosomal mutations, we determined the frequency of mosaic aneuploidy in autopsy brain tissues of subjects with schizophrenia and other psychiatric disorders (intellectual disability comorbid with autism spectrum disorders)...
April 2018: Current Genomics
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