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  1. Article: Comprehensive health assessment and blood analyte reference intervals of gopher tortoises (

    Page-Karjian, Annie / Rafferty, Kathleen / Xavier, Clerson / Stacy, Nicole I / Moore, Jon A / Hirsch, Sarah E / Clark, Samantha / Manire, Charles A / Perrault, Justin R

    Conservation physiology

    2021  Volume 9, Issue 1, Page(s) coab015

    Abstract: The gopher tortoise ( ...

    Abstract The gopher tortoise (
    Language English
    Publishing date 2021-03-26
    Publishing country England
    Document type Journal Article
    ZDB-ID 2721508-8
    ISSN 2051-1434
    ISSN 2051-1434
    DOI 10.1093/conphys/coab015
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Executive Summary: International Clinical Practice Guidelines for Pediatric Ventilator Liberation, A Pediatric Acute Lung Injury and Sepsis Investigators (PALISI) Network Document.

    Abu-Sultaneh, Samer / Iyer, Narayan Prabhu / Fernández, Analía / Gaies, Michael / González-Dambrauskas, Sebastián / Hotz, Justin Christian / Kneyber, Martin C J / López-Fernández, Yolanda M / Rotta, Alexandre T / Werho, David K / Baranwal, Arun Kumar / Blackwood, Bronagh / Craven, Hannah J / Curley, Martha A Q / Essouri, Sandrine / Fioretto, Jose Roberto / Hartmann, Silvia M M / Jouvet, Philippe / Korang, Steven Kwasi /
    Rafferty, Gerrard F / Ramnarayan, Padmanabhan / Rose, Louise / Tume, Lyvonne N / Whipple, Elizabeth C / Wong, Judith J M / Emeriaud, Guillaume / Mastropietro, Christopher W / Napolitano, Natalie / Newth, Christopher J L / Khemani, Robinder G

    American journal of respiratory and critical care medicine

    2022  Volume 207, Issue 1, Page(s) 17–28

    Abstract: Rationale: ...

    Abstract Rationale:
    MeSH term(s) Humans ; Child ; Respiration, Artificial/methods ; Ventilator Weaning/methods ; Ventilators, Mechanical ; Airway Extubation/methods ; Sepsis
    Language English
    Publishing date 2022-12-30
    Publishing country United States
    Document type Systematic Review ; Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
    ZDB-ID 1180953-x
    ISSN 1535-4970 ; 0003-0805 ; 1073-449X
    ISSN (online) 1535-4970
    ISSN 0003-0805 ; 1073-449X
    DOI 10.1164/rccm.202204-0795SO
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Operational Definitions Related to Pediatric Ventilator Liberation.

    Abu-Sultaneh, Samer / Iyer, Narayan Prabhu / Fernández, Analía / Gaies, Michael / González-Dambrauskas, Sebastián / Hotz, Justin Christian / Kneyber, Martin C J / López-Fernández, Yolanda M / Rotta, Alexandre T / Werho, David K / Baranwal, Arun Kumar / Blackwood, Bronagh / Craven, Hannah J / Curley, Martha A Q / Essouri, Sandrine / Fioretto, Jose Roberto / Hartmann, Silvia M M / Jouvet, Philippe / Korang, Steven Kwasi /
    Rafferty, Gerrard F / Ramnarayan, Padmanabhan / Rose, Louise / Tume, Lyvonne N / Whipple, Elizabeth C / Wong, Judith Ju Ming / Emeriaud, Guillaume / Mastropietro, Christopher W / Napolitano, Natalie / Newth, Christopher J L / Khemani, Robinder G

    Chest

    2022  Volume 163, Issue 5, Page(s) 1130–1143

    Abstract: Background: Common, operational definitions are crucial to assess interventions and outcomes related to pediatric mechanical ventilation. These definitions can reduce unnecessary variability among research and quality improvement efforts, to ensure ... ...

    Abstract Background: Common, operational definitions are crucial to assess interventions and outcomes related to pediatric mechanical ventilation. These definitions can reduce unnecessary variability among research and quality improvement efforts, to ensure findings are generalizable, and can be pooled to establish best practices.
    Research question: Can we establish operational definitions for key elements related to pediatric ventilator liberation using a combination of detailed literature review and consensus-based approaches?
    Study design and methods: A panel of 26 international experts in pediatric ventilator liberation, two methodologists, and two librarians conducted systematic reviews on eight topic areas related to pediatric ventilator liberation. Through a series of virtual meetings, we established draft definitions that were voted upon using an anonymous web-based process. Definitions were revised by incorporating extracted data gathered during the systematic review and discussed in another consensus meeting. A second round of voting was conducted to confirm the final definitions.
    Results: In eight topic areas identified by the experts, 16 preliminary definitions were established. Based on initial discussion and the first round of voting, modifications were suggested for 11 of the 16 definitions. There was significant variability in how these items were defined in the literature reviewed. The final round of voting achieved ≥ 80% agreement for all 16 definitions in the following areas: what constitutes respiratory support (invasive mechanical ventilation and noninvasive respiratory support), liberation and failed attempts to liberate from invasive mechanical ventilation, liberation from respiratory support, duration of noninvasive respiratory support, total duration of invasive mechanical ventilation, spontaneous breathing trials, extubation readiness testing, 28 ventilator-free days, and planned vs rescue use of post-extubation noninvasive respiratory support.
    Interpretation: We propose that these consensus-based definitions for elements of pediatric ventilator liberation, informed by evidence, be used for future quality improvement initiatives and research studies to improve generalizability and facilitate comparison.
    MeSH term(s) Humans ; Child ; Respiration, Artificial ; Ventilator Weaning ; Ventilators, Mechanical ; Research Design ; Airway Extubation
    Language English
    Publishing date 2022-12-20
    Publishing country United States
    Document type Practice Guideline ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 1032552-9
    ISSN 1931-3543 ; 0012-3692
    ISSN (online) 1931-3543
    ISSN 0012-3692
    DOI 10.1016/j.chest.2022.12.010
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Recombinant adeno-associated virus-mediated expression of O6-alkylguanine-DNA-alkyltransferase protects human epithelial and hematopoietic cells against chloroethylating agent toxicity.

    Longhurst, S J / Rafferty, J A / Arrand, J R / Cortez, N / Giraud, C / Berns, K I / Fairbairn, L J

    Human gene therapy

    1999  Volume 10, Issue 2, Page(s) 301–310

    Abstract: Recombinant adeno-associated virus (rAAV) encoding the human O6-alkylguanine-DNA-alkyltransferase (hAT) protein and a selectable marker (Neo(r)) was used to transduce human cervical carcinoma (HeLa) cells and erythroleukemic (K562) cells and clones were ... ...

    Abstract Recombinant adeno-associated virus (rAAV) encoding the human O6-alkylguanine-DNA-alkyltransferase (hAT) protein and a selectable marker (Neo(r)) was used to transduce human cervical carcinoma (HeLa) cells and erythroleukemic (K562) cells and clones were selected using G418 (0.4 mg/ml). Thirteen HeLa clones were isolated, 9 of which survived for 2-3 months before cell death ensued, presumably owing to the loss of G418 resistance. Northern blot analysis of the remaining four clones, using a neo probe, showed high levels of RNA equivalent in size to the bicistronic RNA expected to be produced from this construct. Analysis of hAT activity showed that 2000-5000 fmol/mg protein was expressed relative to untransduced cells (800-900 fmol/mg protein). Cell survival analysis following exposure to the chloroethylating agent mitozolomide revealed that expression of hAT at levels two- to fourfold higher than background conferred significant resistance (p < 0.001) to the toxic effects of this drug. Two days following infection of K562 cells with the rAAV vector, immunoblot analysis showed that hAT protein was being produced. Three K562 clones, isolated using G418 selection, were studied in detail and were shown to express hAT activities of 1500, 1010, and 890 fmol/mg protein, respectively, at 40 days posttransduction (mock-transduced K562 cells contain <2 fmol of hAT/mg protein). As with HeLa cells, Northern blot analysis showed the production of an appropriately sized transcript and immunoblot analysis indicated that hAT protein was being produced. These clones were assayed for cell survival following exposure to mitozolomide. Expression of hAT at levels 800- to 1500-fold higher than background conferred significant resistance (p < 0.001) to the toxic effects of mitozolomide. We have therefore successfully conferred a protective advantage against mitozolomide toxicity to cells by rAAV-mediated hAT expression.
    MeSH term(s) Antineoplastic Agents, Alkylating/toxicity ; Base Sequence ; DNA Primers ; Dependovirus/genetics ; Epithelium/drug effects ; Hematopoietic Stem Cells/drug effects ; Humans ; Nitrogen Mustard Compounds/toxicity ; O(6)-Methylguanine-DNA Methyltransferase/genetics ; Plasmids ; Recombination, Genetic ; Transduction, Genetic ; Transgenes ; Tumor Cells, Cultured
    Chemical Substances Antineoplastic Agents, Alkylating ; DNA Primers ; Nitrogen Mustard Compounds ; mitozolomide (E3U7286V3W) ; O(6)-Methylguanine-DNA Methyltransferase (EC 2.1.1.63)
    Language English
    Publishing date 1999-01-20
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1028152-6
    ISSN 1557-7422 ; 1043-0342
    ISSN (online) 1557-7422
    ISSN 1043-0342
    DOI 10.1089/10430349950019084
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Transcranial electrical and magnetic stimulation (tES and TMS) for addiction medicine: A consensus paper on the present state of the science and the road ahead.

    Ekhtiari, Hamed / Tavakoli, Hosna / Addolorato, Giovanni / Baeken, Chris / Bonci, Antonello / Campanella, Salvatore / Castelo-Branco, Luis / Challet-Bouju, Gaëlle / Clark, Vincent P / Claus, Eric / Dannon, Pinhas N / Del Felice, Alessandra / den Uyl, Tess / Diana, Marco / di Giannantonio, Massimo / Fedota, John R / Fitzgerald, Paul / Gallimberti, Luigi / Grall-Bronnec, Marie /
    Herremans, Sarah C / Herrmann, Martin J / Jamil, Asif / Khedr, Eman / Kouimtsidis, Christos / Kozak, Karolina / Krupitsky, Evgeny / Lamm, Claus / Lechner, William V / Madeo, Graziella / Malmir, Nastaran / Martinotti, Giovanni / McDonald, William M / Montemitro, Chiara / Nakamura-Palacios, Ester M / Nasehi, Mohammad / Noël, Xavier / Nosratabadi, Masoud / Paulus, Martin / Pettorruso, Mauro / Pradhan, Basant / Praharaj, Samir K / Rafferty, Haley / Sahlem, Gregory / Salmeron, Betty Jo / Sauvaget, Anne / Schluter, Renée S / Sergiou, Carmen / Shahbabaie, Alireza / Sheffer, Christine / Spagnolo, Primavera A / Steele, Vaughn R / Yuan, Ti-Fei / van Dongen, Josanne D M / Van Waes, Vincent / Venkatasubramanian, Ganesan / Verdejo-García, Antonio / Verveer, Ilse / Welsh, Justine W / Wesley, Michael J / Witkiewitz, Katie / Yavari, Fatemeh / Zarrindast, Mohammad-Reza / Zawertailo, Laurie / Zhang, Xiaochu / Cha, Yoon-Hee / George, Tony P / Frohlich, Flavio / Goudriaan, Anna E / Fecteau, Shirley / Daughters, Stacey B / Stein, Elliot A / Fregni, Felipe / Nitsche, Michael A / Zangen, Abraham / Bikson, Marom / Hanlon, Colleen A

    Neuroscience and biobehavioral reviews

    2019  Volume 104, Page(s) 118–140

    Abstract: There is growing interest in non-invasive brain stimulation (NIBS) as a novel treatment option for substance-use disorders (SUDs). Recent momentum stems from a foundation of preclinical neuroscience demonstrating links between neural circuits and drug ... ...

    Abstract There is growing interest in non-invasive brain stimulation (NIBS) as a novel treatment option for substance-use disorders (SUDs). Recent momentum stems from a foundation of preclinical neuroscience demonstrating links between neural circuits and drug consuming behavior, as well as recent FDA-approval of NIBS treatments for mental health disorders that share overlapping pathology with SUDs. As with any emerging field, enthusiasm must be tempered by reason; lessons learned from the past should be prudently applied to future therapies. Here, an international ensemble of experts provides an overview of the state of transcranial-electrical (tES) and transcranial-magnetic (TMS) stimulation applied in SUDs. This consensus paper provides a systematic literature review on published data - emphasizing the heterogeneity of methods and outcome measures while suggesting strategies to help bridge knowledge gaps. The goal of this effort is to provide the community with guidelines for best practices in tES/TMS SUD research. We hope this will accelerate the speed at which the community translates basic neuroscience into advanced neuromodulation tools for clinical practice in addiction medicine.
    MeSH term(s) Addiction Medicine/methods ; Humans ; Outcome Assessment, Health Care/methods ; Outcome Assessment, Health Care/standards ; Practice Guidelines as Topic/standards ; Substance-Related Disorders/therapy ; Transcranial Direct Current Stimulation/methods ; Transcranial Direct Current Stimulation/standards ; Transcranial Magnetic Stimulation/methods ; Transcranial Magnetic Stimulation/standards
    Language English
    Publishing date 2019-07-02
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Systematic Review
    ZDB-ID 282464-4
    ISSN 1873-7528 ; 0149-7634
    ISSN (online) 1873-7528
    ISSN 0149-7634
    DOI 10.1016/j.neubiorev.2019.06.007
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: The length of secondary chromosomal constrictions in normal individuals and in a nucleolar mutant of Xenopus laevis

    Rafferty, Jr., K. A. / Sherwin, R. W.

    Cytogenetic and Genome Research

    1969  Volume 8, Issue 6, Page(s) 427–438

    Abstract: Secondary chromosomal constrictions are thought to be the loci of the genome which code for ribosomal RNA synthesis. Their metaphase length could depend on nucleolar size or level of functional activity in interphase or on gene content. Wild-type frogs ... ...

    Abstract Secondary chromosomal constrictions are thought to be the loci of the genome which code for ribosomal RNA synthesis. Their metaphase length could depend on nucleolar size or level of functional activity in interphase or on gene content. Wild-type frogs and a frog heterozygous for the Oxford nucleolar mutation were studied to determine which possibility is more probable. The mutant was studied because its single nucleolus is larger than wild-type nucleoli, it has only one constriction, half as many ribosomal genes, but produces the same amount of ribosomal RNA. The results indicate (1) that constriction length depends on the amount of genome (whereas others have shown nucleolar size to be related to level of activity) and (2) that the deletion is limited to the constricted segment, supporting the view that the constriction is the nucleolar organizer. Also, metaphase constrictions are longer than expected from their DNA content.
    Language English
    Publisher S. Karger AG
    Publishing place Basel
    Publishing country Switzerland
    Document type Article ; Online
    ZDB-ID 2087824-2
    ISSN 1424-859X ; 1424-8581 ; 1424-8581
    ISSN (online) 1424-859X
    ISSN 1424-8581
    DOI 10.1159/000130054
    Database Karger publisher's database

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  7. Article ; Online: Genotype, haplotype and copy-number variation in worldwide human populations.

    Jakobsson, Mattias / Scholz, Sonja W / Scheet, Paul / Gibbs, J Raphael / VanLiere, Jenna M / Fung, Hon-Chung / Szpiech, Zachary A / Degnan, James H / Wang, Kai / Guerreiro, Rita / Bras, Jose M / Schymick, Jennifer C / Hernandez, Dena G / Traynor, Bryan J / Simon-Sanchez, Javier / Matarin, Mar / Britton, Angela / van de Leemput, Joyce / Rafferty, Ian /
    Bucan, Maja / Cann, Howard M / Hardy, John A / Rosenberg, Noah A / Singleton, Andrew B

    Nature

    2008  Volume 451, Issue 7181, Page(s) 998–1003

    Abstract: Genome-wide patterns of variation across individuals provide a powerful source of data for uncovering the history of migration, range expansion, and adaptation of the human species. However, high-resolution surveys of variation in genotype, haplotype and ...

    Abstract Genome-wide patterns of variation across individuals provide a powerful source of data for uncovering the history of migration, range expansion, and adaptation of the human species. However, high-resolution surveys of variation in genotype, haplotype and copy number have generally focused on a small number of population groups. Here we report the analysis of high-quality genotypes at 525,910 single-nucleotide polymorphisms (SNPs) and 396 copy-number-variable loci in a worldwide sample of 29 populations. Analysis of SNP genotypes yields strongly supported fine-scale inferences about population structure. Increasing linkage disequilibrium is observed with increasing geographic distance from Africa, as expected under a serial founder effect for the out-of-Africa spread of human populations. New approaches for haplotype analysis produce inferences about population structure that complement results based on unphased SNPs. Despite a difference from SNPs in the frequency spectrum of the copy-number variants (CNVs) detected--including a comparatively large number of CNVs in previously unexamined populations from Oceania and the Americas--the global distribution of CNVs largely accords with population structure analyses for SNP data sets of similar size. Our results produce new inferences about inter-population variation, support the utility of CNVs in human population-genetic research, and serve as a genomic resource for human-genetic studies in diverse worldwide populations.
    MeSH term(s) Africa ; Alleles ; Chromosomes, Human, Pair 2/genetics ; Gene Dosage/genetics ; Genetic Variation/genetics ; Genetics, Population ; Genome, Human/genetics ; Geography ; Haplotypes/genetics ; Humans ; Linkage Disequilibrium ; Polymorphism, Single Nucleotide/genetics
    Language English
    Publishing date 2008-02-21
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 120714-3
    ISSN 1476-4687 ; 0028-0836
    ISSN (online) 1476-4687
    ISSN 0028-0836
    DOI 10.1038/nature06742
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article: The design and synthesis of human branched-chain amino acid aminotransferase inhibitors for treatment of neurodegenerative diseases.

    Hu, Lain-Yen / Boxer, Peter A / Kesten, Suzanne R / Lei, Huangshu J / Wustrow, David J / Moreland, David W / Zhang, Liming / Ahn, Kay / Ryder, Todd R / Liu, Xiaohong / Rubin, John R / Fahnoe, Kelly / Carroll, Richard T / Dutta, Satavisha / Fahnoe, Douglass C / Probert, Albert W / Roof, Robin L / Rafferty, Michael F / Kostlan, Catherine R /
    Scholten, Jeffrey D / Hood, Molly / Ren, Xiao-Dan / Schielke, Gerald P / Su, Ti-Zhi / Taylor, Charles P / Mistry, Anil / McConnell, Patrick / Hasemann, Charles / Ohren, Jeffrey

    Bioorganic & medicinal chemistry letters

    2006  Volume 16, Issue 9, Page(s) 2337–2340

    Abstract: The inhibition of the cytosolic isoenzyme BCAT that is expressed specifically in neuronal tissue is likely to be useful for the treatment of neurodegenerative and other neurological disorders where glutamatergic mechanisms are implicated. Compound 2 ... ...

    Abstract The inhibition of the cytosolic isoenzyme BCAT that is expressed specifically in neuronal tissue is likely to be useful for the treatment of neurodegenerative and other neurological disorders where glutamatergic mechanisms are implicated. Compound 2 exhibited an IC50 of 0.8 microM in the hBCATc assays; it is an active and selective inhibitor. Inhibitor 2 also blocked calcium influx into neuronal cells following inhibition of glutamate uptake, and demonstrated neuroprotective efficacy in vivo. SAR, pharmacology, and the crystal structure of hBCATc with inhibitor 2 are described.
    MeSH term(s) Animals ; Benzofurans/chemical synthesis ; Benzofurans/chemistry ; Benzofurans/therapeutic use ; Calcium/antagonists & inhibitors ; Calcium/metabolism ; Cells, Cultured ; Crystallography, X-Ray ; Drug Design ; Drug Evaluation, Preclinical ; Enzyme Inhibitors/chemical synthesis ; Enzyme Inhibitors/chemistry ; Enzyme Inhibitors/therapeutic use ; Glutamic Acid/drug effects ; Glutamic Acid/metabolism ; Humans ; In Vitro Techniques ; Models, Molecular ; Molecular Structure ; Neurodegenerative Diseases/drug therapy ; Neurons/cytology ; Neurons/drug effects ; Rats ; Rats, Inbred Lew ; Stereoisomerism ; Structure-Activity Relationship ; Sulfonamides/chemical synthesis ; Sulfonamides/chemistry ; Sulfonamides/therapeutic use ; Transaminases/antagonists & inhibitors
    Chemical Substances Benzofurans ; Enzyme Inhibitors ; Sulfonamides ; Glutamic Acid (3KX376GY7L) ; Transaminases (EC 2.6.1.-) ; branched-chain-amino-acid transaminase (EC 2.6.1.42) ; Calcium (SY7Q814VUP)
    Language English
    Publishing date 2006-05-01
    Publishing country England
    Document type Journal Article
    ZDB-ID 1063195-1
    ISSN 1464-3405 ; 0960-894X
    ISSN (online) 1464-3405
    ISSN 0960-894X
    DOI 10.1016/j.bmcl.2005.07.058
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: A genome-wide association study identifies protein quantitative trait loci (pQTLs).

    Melzer, David / Perry, John R B / Hernandez, Dena / Corsi, Anna-Maria / Stevens, Kara / Rafferty, Ian / Lauretani, Fulvio / Murray, Anna / Gibbs, J Raphael / Paolisso, Giuseppe / Rafiq, Sajjad / Simon-Sanchez, Javier / Lango, Hana / Scholz, Sonja / Weedon, Michael N / Arepalli, Sampath / Rice, Neil / Washecka, Nicole / Hurst, Alison /
    Britton, Angela / Henley, William / van de Leemput, Joyce / Li, Rongling / Newman, Anne B / Tranah, Greg / Harris, Tamara / Panicker, Vijay / Dayan, Colin / Bennett, Amanda / McCarthy, Mark I / Ruokonen, Aimo / Jarvelin, Marjo-Riitta / Guralnik, Jack / Bandinelli, Stefania / Frayling, Timothy M / Singleton, Andrew / Ferrucci, Luigi

    PLoS genetics

    2008  Volume 4, Issue 5, Page(s) e1000072

    Abstract: There is considerable evidence that human genetic variation influences gene expression. Genome-wide studies have revealed that mRNA levels are associated with genetic variation in or close to the gene coding for those mRNA transcripts - cis effects, and ... ...

    Abstract There is considerable evidence that human genetic variation influences gene expression. Genome-wide studies have revealed that mRNA levels are associated with genetic variation in or close to the gene coding for those mRNA transcripts - cis effects, and elsewhere in the genome - trans effects. The role of genetic variation in determining protein levels has not been systematically assessed. Using a genome-wide association approach we show that common genetic variation influences levels of clinically relevant proteins in human serum and plasma. We evaluated the role of 496,032 polymorphisms on levels of 42 proteins measured in 1200 fasting individuals from the population based InCHIANTI study. Proteins included insulin, several interleukins, adipokines, chemokines, and liver function markers that are implicated in many common diseases including metabolic, inflammatory, and infectious conditions. We identified eight Cis effects, including variants in or near the IL6R (p = 1.8x10(-57)), CCL4L1 (p = 3.9x10(-21)), IL18 (p = 6.8x10(-13)), LPA (p = 4.4x10(-10)), GGT1 (p = 1.5x10(-7)), SHBG (p = 3.1x10(-7)), CRP (p = 6.4x10(-6)) and IL1RN (p = 7.3x10(-6)) genes, all associated with their respective protein products with effect sizes ranging from 0.19 to 0.69 standard deviations per allele. Mechanisms implicated include altered rates of cleavage of bound to unbound soluble receptor (IL6R), altered secretion rates of different sized proteins (LPA), variation in gene copy number (CCL4L1) and altered transcription (GGT1). We identified one novel trans effect that was an association between ABO blood group and tumour necrosis factor alpha (TNF-alpha) levels (p = 6.8x10(-40)), but this finding was not present when TNF-alpha was measured using a different assay , or in a second study, suggesting an assay-specific association. Our results show that protein levels share some of the features of the genetics of gene expression. These include the presence of strong genetic effects in cis locations. The identification of protein quantitative trait loci (pQTLs) may be a powerful complementary method of improving our understanding of disease pathways.
    MeSH term(s) Adult ; Aged ; Aged, 80 and over ; Blood Proteins/genetics ; Blood Proteins/metabolism ; Female ; Gene Dosage ; Genetic Linkage ; Genetic Variation ; Genome, Human ; Genotype ; Humans ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; Quantitative Trait Loci ; Transcription, Genetic
    Chemical Substances Blood Proteins
    Language English
    Publishing date 2008-05-09
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2186725-2
    ISSN 1553-7404 ; 1553-7390
    ISSN (online) 1553-7404
    ISSN 1553-7390
    DOI 10.1371/journal.pgen.1000072
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article: Soil and vegetation fluoride exposure pathways to cotton rats on a petrochemical-contaminated landfarm

    Schroder, J.L / Basta, N.T / Rafferty, D.P / Lochmiller, R.L / Kim, S / Qualls, C.W. Jr / McBee, K

    Environmental toxicology and chemistry / Sept 1999. v. 18 (9)

    1999  

    Abstract: Total fluoride (F) content of soils, vegetation, and cotton rats (Sigmodon hispidus) was measured on a landfarm contaminated with petrochemical wastes. A potentially bioavailable form of F was determined by HCl extraction of soils and vegetation. Cotton ... ...

    Abstract Total fluoride (F) content of soils, vegetation, and cotton rats (Sigmodon hispidus) was measured on a landfarm contaminated with petrochemical wastes. A potentially bioavailable form of F was determined by HCl extraction of soils and vegetation. Cotton rats from the landfarm were examined for dental lesions indicative of fluorosis. Exposure pathways including dietary ingestion of unwashed vegetation and nondietary ingestion of soil associated with grooming and burrowing were evaluated. Mean bone F (1,515 mg/kg) and mean soil total F (1,954 mg/kg) from the landfarm site were greater than bone F (121 mg/kg) and soil total F (121 mg/kg) at a reference site. The HCl-extractable F was elevated in landfarm soil (326 mg/kg) compared to the reference site (2.3 mg/kg). About 80% of the cotton rats collected from the landfarm had dental fluorosis. During winter, the dietary pathway consisted of 78.9% of the potential bioavailable exposure (HCl-extractable F) of the two exposure pathways. However, in the summer, the nondietary pathway consisted of 87.9% of the potential bioavailable exposure of the two pathways. Incidental ingestion of soil associated with grooming and burrowing is more important than consumption of unwashed vegetation for cotton rats on the landfarm site in the summer. Fluoride accumulation in the soil from landfarming of petroleum wastes may pose a risk to terrestrial vertebrates. In addition to monitoring petroleum hydrocarbons, land application of petrochemical wastes should consider F and other inorganic contaminant loadings to the soil system.
    Keywords Sigmodon hispidus ; soil pollution ; environmental exposure
    Language English
    Dates of publication 1999-09
    Size p. 2028-2023.
    Document type Article
    ZDB-ID 46234-2
    ISSN 1552-8618 ; 0730-7268
    ISSN (online) 1552-8618
    ISSN 0730-7268
    Database NAL-Catalogue (AGRICOLA)

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