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Tytuł :
Fine-mapping analysis of a chromosome 2 region linked to resistance to Mycobacterium tuberculosis infection in Uganda reveals potential regulatory variants.
Autorzy :
Igo RP Jr; Department of Population & Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA.
Hall NB; Department of Population & Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA.
Malone LL; Tuberculosis Research Unit (TBRU), Case Western Reserve University, Cleveland, OH, USA.
Hall JB; Department of Population & Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA.; Institute for Next Generation Healthcare, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Truitt B; Department of Population & Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA.
Qiu F; Department of Population & Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA.
Tao L; Department of Internal Medicine, Harbor-UCLA Medical Center, Los Angeles, CA, USA.
Mupere E; Department of Population & Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA.; Uganda-Case Western Reserve University Research Collaboration, Kampala, Uganda.; Departments of Pediatrics & Child Health, and Medicine, School of Medicine, Makerere University and Mulago Hospital, Kampala, Uganda.
Schnell A; Department of Population & Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA.
Hawn TR; Department of Medicine, University of Washington, Seattle, WA, USA.
Bush WS; Department of Population & Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA.
Joloba M; School for Biomedical Sciences, College of Health Sciences, Makerere University, Kampala, Uganda.
Boom WH; Tuberculosis Research Unit (TBRU), Case Western Reserve University, Cleveland, OH, USA.; Uganda-Case Western Reserve University Research Collaboration, Kampala, Uganda.
Stein CM; Department of Population & Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA. .; Tuberculosis Research Unit (TBRU), Case Western Reserve University, Cleveland, OH, USA. .; Uganda-Case Western Reserve University Research Collaboration, Kampala, Uganda. .
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Źródło :
Genes and immunity [Genes Immun] 2019 Jul; Vol. 20 (6), pp. 473-483. Date of Electronic Publication: 2018 Aug 13.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Chromosomes, Human, Pair 2/*genetics
Glycosyltransferases/*genetics
Tuberculosis/*genetics
Zinc Finger E-box Binding Homeobox 2/*genetics
Adolescent ; Body Mass Index ; Child ; Disease Resistance ; Female ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; HIV Infections/complications ; Histone Deacetylase 1/metabolism ; Humans ; Male ; Polymorphism, Single Nucleotide ; Signal Transduction ; Tuberculin Test ; Tuberculosis/complications ; Tuberculosis/prevention & control ; Uganda ; Young Adult
Czasopismo naukowe
Tytuł :
Polymorphisms in TICAM2 and IL1B are associated with TB.
Autorzy :
Hall NB; Dept. of Epidemiology & Biostatistics, Case Western Reserve Univ., Cleveland, OH.
Igo RP Jr; Dept. of Epidemiology & Biostatistics, Case Western Reserve Univ., Cleveland, OH.
Malone LL; Uganda-CWRU Research Collaboration.
Truitt B; Dept. of Epidemiology & Biostatistics, Case Western Reserve Univ., Cleveland, OH.
Schnell A; Dept. of Epidemiology & Biostatistics, Case Western Reserve Univ., Cleveland, OH.
Tao L; Dept. of Medicine, Case Western Reserve Univ., Cleveland, OH.
Okware B; Uganda-CWRU Research Collaboration.
Nsereko M; Uganda-CWRU Research Collaboration.
Chervenak K; Dept. of Medicine, Case Western Reserve Univ., Cleveland, OH.; Uganda-CWRU Research Collaboration.
Lancioni C; Dept. of Pediatrics, Oregon Health & Science University, Portland, OR.
Hawn TR; Dept. of Medicine, Univ. of Washington School of Medicine, Seattle, WA.
Mayanja-Kizza H; Uganda-CWRU Research Collaboration.; College of Health Sciences Makerere Univ. and Mulago Hospital, Kampala, Uganda.
Joloba ML; Uganda-CWRU Research Collaboration.; College of Health Sciences Makerere Univ. and Mulago Hospital, Kampala, Uganda.
Boom WH; Dept. of Medicine, Case Western Reserve Univ., Cleveland, OH.; Uganda-CWRU Research Collaboration.
Stein CM; Dept. of Epidemiology & Biostatistics, Case Western Reserve Univ., Cleveland, OH.; Center for Proteomics & Bioinformatics, Case Western Reserve University, Cleveland OH.; Uganda-CWRU Research Collaboration.
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Corporate Authors :
Tuberculosis Research Unit (TBRU)
Źródło :
Genes and immunity [Genes Immun] 2015 Mar; Vol. 16 (2), pp. 127-133. Date of Electronic Publication: 2014 Dec 18.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Adaptor Proteins, Signal Transducing/*genetics
Interleukin-1beta/*genetics
Tuberculosis/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Genetic Predisposition to Disease ; Haplotypes ; Humans ; Male ; Polymorphism, Single Nucleotide ; Tuberculosis/epidemiology ; Uganda/epidemiology ; Young Adult
Czasopismo naukowe
Tytuł :
Exome array analysis identifies CAV1/CAV2 as a susceptibility locus for intraocular pressure.
Autorzy :
Chen F; Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, United States.
Klein AP; Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, United States.
Klein BE; Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, United States.
Lee KE; Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, United States.
Truitt B; Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, United States.
Klein R; Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, United States.
Iyengar SK; Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, United States.
Duggal P; Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, United States.
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Źródło :
Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2014 Dec 18; Vol. 56 (1), pp. 544-51. Date of Electronic Publication: 2014 Dec 18.
Typ publikacji :
Journal Article; Multicenter Study; Research Support, N.I.H., Extramural
MeSH Terms :
Genetic Predisposition to Disease*
Caveolin 1/*genetics
Caveolin 2/*genetics
DNA/*genetics
Glaucoma, Open-Angle/*genetics
Intraocular Pressure/*physiology
Adult ; Aged ; Aged, 80 and over ; Caveolin 1/metabolism ; Caveolin 2/metabolism ; Exome ; Female ; Follow-Up Studies ; Genotype ; Glaucoma, Open-Angle/metabolism ; Glaucoma, Open-Angle/physiopathology ; Humans ; Male ; Middle Aged ; Pedigree ; Phenotype ; Protein Array Analysis ; Retrospective Studies
Czasopismo naukowe
Tytuł :
Severe vascular calcification and tumoral calcinosis in a family with hyperphosphatemia: a fibroblast growth factor 23 mutation identified by exome sequencing.
Autorzy :
Shah A; Division of Nephrology and Hypertension, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA 90502, USA.
Miller CJ; Department of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA.
Nast CC; Division of Pathology, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA 90502, USA.
Adams MD; J. Craig Venter Institute, San Diego, CA 92121, USA.
Truitt B; Department of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA.
Tayek JA; Division of General Internal Medicine, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA 90502, USA.
Tong L; Division of Nephrology and Hypertension, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA 90502, USA.
Mehtani P; Division of Nephrology and Hypertension, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA 90502, USA.
Monteon F; Unidad de Nefrologia y Transplante, Hospital Mexico-Americano, Guadalajara, Jalisco, Mexico.
Sedor JR; Department of Medicine, MetroHealth Medical Center, Cleveland, OH 44109, USA.
Clinkenbeard EL; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
White K; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
Mehrotra R; Division of Nephrology and Hypertension, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA 90502, USA.
LaPage J; Division of Nephrology and Hypertension, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA 90502, USA.
Dickson P; Division of Medical Genetics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA 90502, USA.
Adler SG; Division of Nephrology and Hypertension, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA 90502, USA.
Iyengar SK; Department of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA.
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Źródło :
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association [Nephrol Dial Transplant] 2014 Dec; Vol. 29 (12), pp. 2235-43. Date of Electronic Publication: 2014 Nov 05.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Calcinosis/*genetics
DNA/*genetics
Fibroblast Growth Factors/*genetics
Hyperostosis, Cortical, Congenital/*genetics
Hyperphosphatemia/*genetics
Phosphates/*blood
Vascular Calcification/*genetics
Adult ; Alleles ; Calcinosis/blood ; Calcinosis/complications ; DNA Mutational Analysis ; Enzyme-Linked Immunosorbent Assay ; Exome ; Female ; Fibroblast Growth Factors/blood ; Genotype ; Humans ; Hyperostosis, Cortical, Congenital/blood ; Hyperostosis, Cortical, Congenital/complications ; Hyperphosphatemia/blood ; Hyperphosphatemia/complications ; Immunohistochemistry ; Male ; Vascular Calcification/blood ; Vascular Calcification/etiology
SCR Disease Name :
Tumoral Calcinosis, Hyperphosphatemic, Familial
Czasopismo naukowe
Tytuł :
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.
Autorzy :
Ratnapriya R; Neurobiology Neurodegeneration and Repair Laboratory.
Zhan X; Center for Statistical Genetics, Department of Biostatistics and.
Fariss RN; Biological Imaging Core.
Branham KE; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48109, USA.
Zipprer D; Neurobiology Neurodegeneration and Repair Laboratory.
Chakarova CF; Department of Genetics, UCL-Institute of Ophthalmology, Bath Street, London EC1V 9EL, UK.
Sergeev YV; Ophthalmic Genetics and Visual Function Branch.
Campos MM; Biological Imaging Core.
Othman M; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48109, USA.
Friedman JS; Neurobiology Neurodegeneration and Repair Laboratory.
Maminishkis A; Section of Epithelial and Retinal Physiology and Disease.
Waseem NH; Department of Genetics, UCL-Institute of Ophthalmology, Bath Street, London EC1V 9EL, UK.
Brooks M; Neurobiology Neurodegeneration and Repair Laboratory.
Rajasimha HK; Neurobiology Neurodegeneration and Repair Laboratory.
Edwards AO; Institute for Molecular Biology, University of Oregon and Oregon Retina, Eugene, OR 97401, USA.
Lotery A; Faculty of Medicine, Clinical and Experimental Sciences, University of Southampton, Southampton SO16 6YD, UK.
Klein BE; Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and, Public Health, Madison, WI 53726, USA.
Truitt BJ; Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44106, USA.
Li B; Center for Human Genetics Research, Vanderbilt University, Nashville, TN 37232, USA.
Schaumberg DA; Division of Preventive Medicine, Brigham and Women's Hospital, Boston, MA 02215, USA, Department of Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah, Salt Lake City, UT 84132, USA.
Morgan DJ; Department of Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah, Salt Lake City, UT 84132, USA.
Morrison MA; Department of Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah, Salt Lake City, UT 84132, USA.
Souied E; Hôpital Intercommunal de Créteil, Hôpital Henri Mondor - Université Paris Est Créteil 94000, France.
Tsironi EE; Department of Ophthalmology, University of Thessaly School of Medicine, Larissa, Greece.
Grassmann F; Institute of Human Genetics, University of Regensburg, Regensburg 93053, Germany.
Fishman GA; Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, IL 60607, USA.
Silvestri G; Centre for Vision and Vascular Science, Queen's University, Belfast, UK.
Scholl HP; Wilmer Eye Institute, Johns Hopkins University, 600 N. Wolfe Street, Baltimore, MD 21287, USA.
Kim IK; Retina Service and Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA.
Ramke J; The Fred Hollows Foundation, Auckland, New Zealand, School of Social Sciences, University of New South Wales, Sydney, Australia.
Tuo J; Section of Immunopathology and.
Merriam JE; Department of Ophthalmology and.
Merriam JC; Department of Ophthalmology and.
Park KH; Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul 463-707, Republic of Korea.
Olson LM; Center for Human Genetics Research, Vanderbilt University, Nashville, TN 37232, USA.
Farrer LA; Departments of Medicine (Section of Biomedical Genetics), Ophthalmology and Biostatistics, Neurology, Epidemiology, Boston University Schools of Medicine and Public Health, Boston, MA 02215, USA.
Johnson MP; Texas Biomedical Research Institute, San Antonio, TX 78245, USA.
Peachey NS; Cleveland Clinic Foundation, Cole Eye Institute, Cleveland, OH 44195, USA, Louis Stokes Cleveland VA Medical Center, Cleveland, OH 44195, USA.
Lathrop M; Department of Genetics, Institut de la Vision - Inserm Université Pierre et Marie Curie UMR-S 968, Paris, France.
Baron RV; Department of Human Genetics and.
Igo RP Jr; Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44106, USA.
Klein R; Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and, Public Health, Madison, WI 53726, USA.
Hagstrom SA; Cleveland Clinic Foundation, Cole Eye Institute, Cleveland, OH 44195, USA.
Kamatani Y; Department of Genetics, Institut de la Vision - Inserm Université Pierre et Marie Curie UMR-S 968, Paris, France.
Martin TM; Oregon Health & Science University, Portland, OR 97239, USA.
Jiang Y; Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA.
Conley Y; Health Promotion and Development, School of Nursing, 440 Victoria Building, 3500 Victoria St, Pittsburgh, PA 15261, USA.
Sahel JA; Department of Genetics, Institut de la Vision - Inserm Université Pierre et Marie Curie UMR-S 968, Paris, France.
Zack DJ; Wilmer Eye Institute, Johns Hopkins University, 600 N. Wolfe Street, Baltimore, MD 21287, USA.
Chan CC; Section of Immunopathology and.
Pericak-Vance MA; Bascom Palmer Eye Institute and Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33125, USA.
Jacobson SG; Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.
Gorin MB; Department of Ophthalmology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA.
Klein ML; Macular Degeneration Center, Casey Eye Institute, Oregon Health and Science, University, Portland, OR 97201, USA.
Allikmets R; Department of Ophthalmology and Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA.
Iyengar SK; Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44106, USA.
Weber BH; Institute of Human Genetics, University of Regensburg, Regensburg 93053, Germany.
Haines JL; Center for Human Genetics Research, Vanderbilt University, Nashville, TN 37232, USA.
Léveillard T; Department of Genetics, Institut de la Vision - Inserm Université Pierre et Marie Curie UMR-S 968, Paris, France.
Deangelis MM; Department of Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah, Salt Lake City, UT 84132, USA.
Stambolian D; Department of Ophthalmology, and Department of Genetics, University of Pennsylvania, Philadelphia, PA 9104, USA.
Weeks DE; Department of Human Genetics and Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA.
Bhattacharya SS; Department of Genetics, UCL-Institute of Ophthalmology, Bath Street, London EC1V 9EL, UK.
Chew EY; Clinical Trials Branch, Division of Epidemiology and Clinical Applications, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Heckenlively JR; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48109, USA.
Abecasis GR; Center for Statistical Genetics, Department of Biostatistics and.
Swaroop A; Neurobiology Neurodegeneration and Repair Laboratory, .
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Źródło :
Human molecular genetics [Hum Mol Genet] 2014 Nov 01; Vol. 23 (21), pp. 5827-37. Date of Electronic Publication: 2014 Jun 04.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Association Studies*
Genetic Variation*
Macular Degeneration/*genetics
Microfilament Proteins/*genetics
Adult ; Aged ; Amino Acid Sequence ; Bruch Membrane/metabolism ; DNA Mutational Analysis ; Exome ; Extracellular Matrix/metabolism ; Fibrillin-2 ; Fibrillins ; High-Throughput Nucleotide Sequencing ; Humans ; Macular Degeneration/diagnosis ; Male ; Meta-Analysis as Topic ; Microfilament Proteins/metabolism ; Middle Aged ; Models, Molecular ; Molecular Sequence Data ; Mutation ; Pedigree ; Protein Conformation ; Protein Stability ; Retina/metabolism ; Retina/pathology ; Sequence Alignment
Czasopismo naukowe
Tytuł :
Association between AVPR1A, DRD2, and ASPM and endophenotypes of communication disorders.
Autorzy :
Stein CM; Departments of aEpidemiology and Biostatistics bPsychological Sciences cPediatrics dGenetics eCenter for Proteomics and Bioinformatics, Case Western Reserve University, Cleveland, Ohio, USA.
Truitt B
Deng F
Ciesla AA
Qiu F
Joseph P
Raghavendra R
Fondran J
Igo RP Jr
Tag J
Freebairn L
Taylor HG
Lewis BA
Iyengar SK
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Źródło :
Psychiatric genetics [Psychiatr Genet] 2014 Oct; Vol. 24 (5), pp. 191-200.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Endophenotypes*
Genetic Association Studies*
Genetic Predisposition to Disease*
Communication Disorders/*genetics
Nerve Tissue Proteins/*genetics
Receptors, Dopamine D2/*genetics
Receptors, Vasopressin/*genetics
Child ; Child, Preschool ; Female ; Humans ; Language Disorders/genetics ; Linkage Disequilibrium/genetics ; Male ; Quantitative Trait, Heritable ; Speech Sound Disorder
SCR Disease Name :
Speech-Sound Disorder, hereditary
Czasopismo naukowe
Tytuł :
Genetic evidence for role of carotenoids in age-related macular degeneration in the Carotenoids in Age-Related Eye Disease Study (CAREDS).
Autorzy :
Meyers KJ; Department of Ophthalmology and Visual Sciences, McPherson Eye Research Institute, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.
Mares JA
Igo RP Jr
Truitt B
Liu Z
Millen AE
Klein M
Johnson EJ
Engelman CD
Karki CK
Blodi B
Gehrs K
Tinker L
Wallace R
Robinson J
LeBlanc ES
Sarto G
Bernstein PS
SanGiovanni JP
Iyengar SK
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Źródło :
Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2014 Jan 29; Vol. 55 (1), pp. 587-99. Date of Electronic Publication: 2014 Jan 29.
Typ publikacji :
Comparative Study; Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Polymorphism, Genetic*
Carotenoids/*genetics
Macular Degeneration/*genetics
Aged ; Aged, 80 and over ; Carotenoids/metabolism ; Female ; Follow-Up Studies ; Genotype ; Humans ; Incidence ; Macular Degeneration/epidemiology ; Macular Degeneration/metabolism ; Middle Aged ; Retrospective Studies ; Risk Factors ; United States/epidemiology
Czasopismo naukowe
Tytuł :
Discovery of antivirulence agents against methicillin-resistant Staphylococcus aureus.
Autorzy :
Khodaverdian V; Department of Biochemistry, School of Medicine, Case Western Reserve University, Cleveland, Ohio, USA.
Pesho M
Truitt B
Bollinger L
Patel P
Nithianantham S
Yu G
Delaney E
Jankowsky E
Shoham M
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Źródło :
Antimicrobial agents and chemotherapy [Antimicrob Agents Chemother] 2013 Aug; Vol. 57 (8), pp. 3645-52. Date of Electronic Publication: 2013 May 20.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Bacterial Toxins/*antagonists & inhibitors
Diflunisal/*pharmacology
Hemolysin Proteins/*antagonists & inhibitors
Methicillin-Resistant Staphylococcus aureus/*drug effects
Virulence Factors/*antagonists & inhibitors
Animals ; Dose-Response Relationship, Drug ; Erythrocytes/drug effects ; Gene Expression Regulation, Bacterial/drug effects ; Hemolysis ; Methicillin-Resistant Staphylococcus aureus/genetics ; Microbial Sensitivity Tests ; Models, Molecular ; Naphthalenes/chemistry ; Naphthalenes/pharmacology ; Phosphorylation ; Promoter Regions, Genetic ; Protein Binding ; Protein Structure, Tertiary ; Rabbits ; Transcription, Genetic
Czasopismo naukowe
Tytuł :
Seven new loci associated with age-related macular degeneration.
Autorzy :
Fritsche LG; Institute of Human Genetics, University of Regensburg, Regensburg, Germany.
Chen W
Schu M
Yaspan BL
Yu Y
Thorleifsson G
Zack DJ
Arakawa S
Cipriani V
Ripke S
Igo RP Jr
Buitendijk GH
Sim X
Weeks DE
Guymer RH
Merriam JE
Francis PJ
Hannum G
Agarwal A
Armbrecht AM
Audo I
Aung T
Barile GR
Benchaboune M
Bird AC
Bishop PN
Branham KE
Brooks M
Brucker AJ
Cade WH
Cain MS
Campochiaro PA
Chan CC
Cheng CY
Chew EY
Chin KA
Chowers I
Clayton DG
Cojocaru R
Conley YP
Cornes BK
Daly MJ
Dhillon B
Edwards AO
Evangelou E
Fagerness J
Ferreyra HA
Friedman JS
Geirsdottir A
George RJ
Gieger C
Gupta N
Hagstrom SA
Harding SP
Haritoglou C
Heckenlively JR
Holz FG
Hughes G
Ioannidis JP
Ishibashi T
Joseph P
Jun G
Kamatani Y
Katsanis N
N Keilhauer C
Khan JC
Kim IK
Kiyohara Y
Klein BE
Klein R
Kovach JL
Kozak I
Lee CJ
Lee KE
Lichtner P
Lotery AJ
Meitinger T
Mitchell P
Mohand-Saïd S
Moore AT
Morgan DJ
Morrison MA
Myers CE
Naj AC
Nakamura Y
Okada Y
Orlin A
Ortube MC
Othman MI
Pappas C
Park KH
Pauer GJ
Peachey NS
Poch O
Priya RR
Reynolds R
Richardson AJ
Ripp R
Rudolph G
Ryu E
Sahel JA
Schaumberg DA
Scholl HP
Schwartz SG
Scott WK
Shahid H
Sigurdsson H
Silvestri G
Sivakumaran TA
Smith RT
Sobrin L
Souied EH
Stambolian DE
Stefansson H
Sturgill-Short GM
Takahashi A
Tosakulwong N
Truitt BJ
Tsironi EE
Uitterlinden AG
van Duijn CM
Vijaya L
Vingerling JR
Vithana EN
Webster AR
Wichmann HE
Winkler TW
Wong TY
Wright AF
Zelenika D
Zhang M
Zhao L
Zhang K
Klein ML
Hageman GS
Lathrop GM
Stefansson K
Allikmets R
Baird PN
Gorin MB
Wang JJ
Klaver CC
Seddon JM
Pericak-Vance MA
Iyengar SK
Yates JR
Swaroop A
Weber BH
Kubo M
Deangelis MM
Léveillard T
Thorsteinsdottir U
Haines JL
Farrer LA
Heid IM
Abecasis GR
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Corporate Authors :
AMD Gene Consortium
Źródło :
Nature genetics [Nat Genet] 2013 Apr; Vol. 45 (4), pp. 433-9, 439e1-2. Date of Electronic Publication: 2013 Mar 03.
Typ publikacji :
Journal Article
MeSH Terms :
Biomarkers/*metabolism
Genetic Loci/*genetics
Macular Degeneration/*genetics
Polymorphism, Single Nucleotide/*genetics
Case-Control Studies ; Female ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Male ; Meta-Analysis as Topic ; Risk Factors
Czasopismo naukowe
Tytuł :
Genetic determinants of macular pigments in women of the Carotenoids in Age-Related Eye Disease Study.
Autorzy :
Meyers KJ; Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin 53726, USA.
Johnson EJ
Bernstein PS
Iyengar SK
Engelman CD
Karki CK
Liu Z
Igo RP Jr
Truitt B
Klein ML
Snodderly DM
Blodi BA
Gehrs KM
Sarto GE
Wallace RB
Robinson J
LeBlanc ES
Hageman G
Tinker L
Mares JA
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Źródło :
Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2013 Mar 28; Vol. 54 (3), pp. 2333-45. Date of Electronic Publication: 2013 Mar 28.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
MeSH Terms :
Carotenoids/*genetics
Macular Degeneration/*genetics
Retinal Pigments/*genetics
Aged ; Aged, 80 and over ; Aging/physiology ; Carotenoids/metabolism ; Cross-Sectional Studies ; Female ; Humans ; Macular Degeneration/metabolism ; Phenotype ; Polymorphism, Single Nucleotide ; Postmenopause ; Retinal Pigments/metabolism ; Scavenger Receptors, Class B/genetics ; beta-Carotene 15,15'-Monooxygenase/genetics
Czasopismo naukowe
Tytuł :
Vitamin D intake and season modify the effects of the GC and CYP2R1 genes on 25-hydroxyvitamin D concentrations.
Autorzy :
Engelman CD; Department of Population Health Sciences, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA. .
Meyers KJ
Iyengar SK
Liu Z
Karki CK
Igo RP Jr
Truitt B
Robinson J
Sarto GE
Wallace R
Blodi BA
Klein ML
Tinker L
LeBlanc ES
Jackson RD
Song Y
Manson JE
Mares JA
Millen AE
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Źródło :
The Journal of nutrition [J Nutr] 2013 Jan; Vol. 143 (1), pp. 17-26. Date of Electronic Publication: 2012 Nov 28.
Typ publikacji :
Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Polymorphism, Single Nucleotide*
25-Hydroxyvitamin D 2/*blood
Calcifediol/*blood
Cholestanetriol 26-Monooxygenase/*genetics
Vitamin D/*administration & dosage
Vitamin D Deficiency/*genetics
Vitamin D-Binding Protein/*genetics
Aged ; Cholestanetriol 26-Monooxygenase/metabolism ; Cohort Studies ; Cytochrome P450 Family 2 ; European Continental Ancestry Group ; Female ; Genetic Association Studies ; Humans ; Middle Aged ; Postmenopause ; Prospective Studies ; Retrospective Studies ; Seasons ; Sunlight ; United States ; Vitamin D Deficiency/blood ; Vitamin D Deficiency/etiology ; Vitamin D Deficiency/prevention & control ; Vitamin D-Binding Protein/metabolism
Czasopismo naukowe
Tytuł :
Differing roles for TCF4 and COL8A2 in central corneal thickness and fuchs endothelial corneal dystrophy.
Autorzy :
Igo RP Jr; Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, United States of America.
Kopplin LJ
Joseph P
Truitt B
Fondran J
Bardenstein D
Aldave AJ
Croasdale CR
Price MO
Rosenwasser M
Lass JH
Iyengar SK
Pokaż więcej
Corporate Authors :
FECD Genetics Multi-center Study Group
Źródło :
PloS one [PLoS One] 2012; Vol. 7 (10), pp. e46742. Date of Electronic Publication: 2012 Oct 23.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/*genetics
Collagen Type VIII/*genetics
Cornea/*metabolism
Cornea/*pathology
Fuchs' Endothelial Dystrophy/*genetics
Fuchs' Endothelial Dystrophy/*pathology
Transcription Factors/*genetics
Aged ; Female ; Genotype ; Haplotypes ; Humans ; Linkage Disequilibrium/genetics ; Male ; Middle Aged ; Polymorphism, Single Nucleotide/genetics ; Transcription Factor 4
Czasopismo naukowe

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