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Wyszukujesz frazę ""Phenotype"" wg kryterium: Temat


Tytuł:
Cell senescence, the senescence-associated secretory phenotype, and cancers.
Autorzy:
Langhi Prata LGP; Department of Physiology and Biomedical Engineering, Mayo Clinic, Rochester, Minnesota, United States of America.
Tchkonia T; Department of Physiology and Biomedical Engineering, Mayo Clinic, Rochester, Minnesota, United States of America.
Kirkland JL; Department of Physiology and Biomedical Engineering, Mayo Clinic, Rochester, Minnesota, United States of America.; Department of Medicine, Mayo Clinic, Rochester, Minnesota, United States of America.
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Źródło:
PLoS biology [PLoS Biol] 2023 Sep 21; Vol. 21 (9), pp. e3002326. Date of Electronic Publication: 2023 Sep 21 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
Senescence-Associated Secretory Phenotype*
Neoplasms*/genetics
Humans ; Cellular Senescence/genetics ; Cell Differentiation ; Inflammation ; Phenotype
Czasopismo naukowe
Tytuł:
Immunotherapeutic approach to reduce senescent cells and alleviate senescence-associated secretory phenotype in mice.
Autorzy:
Shrestha N; HCW Biologics Inc., Miramar, Florida, USA.
Chaturvedi P; HCW Biologics Inc., Miramar, Florida, USA.
Zhu X; HCW Biologics Inc., Miramar, Florida, USA.
Dee MJ; HCW Biologics Inc., Miramar, Florida, USA.
George V; HCW Biologics Inc., Miramar, Florida, USA.
Janney C; HCW Biologics Inc., Miramar, Florida, USA.
Egan JO; HCW Biologics Inc., Miramar, Florida, USA.
Liu B; HCW Biologics Inc., Miramar, Florida, USA.
Foster M; Division of Oncology, Washington University School of Medicine, St. Louis, Missouri, USA.
Marsala L; Division of Oncology, Washington University School of Medicine, St. Louis, Missouri, USA.
Wong P; Division of Oncology, Washington University School of Medicine, St. Louis, Missouri, USA.
Cubitt CC; Division of Oncology, Washington University School of Medicine, St. Louis, Missouri, USA.
Foltz JA; Division of Oncology, Washington University School of Medicine, St. Louis, Missouri, USA.
Tran J; Division of Oncology, Washington University School of Medicine, St. Louis, Missouri, USA.
Schappe T; Division of Oncology, Washington University School of Medicine, St. Louis, Missouri, USA.
Hsiao K; Department of Pharmaceutical Sciences, Nova Southeastern University, Fort Lauderdale, Florida, USA.
Leclerc GM; HCW Biologics Inc., Miramar, Florida, USA.
You L; HCW Biologics Inc., Miramar, Florida, USA.
Echeverri C; HCW Biologics Inc., Miramar, Florida, USA.
Spanoudis C; HCW Biologics Inc., Miramar, Florida, USA.
Carvalho A; HCW Biologics Inc., Miramar, Florida, USA.
Kanakaraj L; HCW Biologics Inc., Miramar, Florida, USA.
Gilkes C; HCW Biologics Inc., Miramar, Florida, USA.
Encalada N; HCW Biologics Inc., Miramar, Florida, USA.
Kong L; HCW Biologics Inc., Miramar, Florida, USA.
Wang M; HCW Biologics Inc., Miramar, Florida, USA.
Fang B; HCW Biologics Inc., Miramar, Florida, USA.
Wang Z; HCW Biologics Inc., Miramar, Florida, USA.
Jiao JA; HCW Biologics Inc., Miramar, Florida, USA.
Muniz GJ; HCW Biologics Inc., Miramar, Florida, USA.
Jeng EK; HCW Biologics Inc., Miramar, Florida, USA.
Valdivieso N; HCW Biologics Inc., Miramar, Florida, USA.
Li L; HCW Biologics Inc., Miramar, Florida, USA.
Deth R; Department of Pharmaceutical Sciences, Nova Southeastern University, Fort Lauderdale, Florida, USA.
Berrien-Elliott MM; Division of Oncology, Washington University School of Medicine, St. Louis, Missouri, USA.
Fehniger TA; Division of Oncology, Washington University School of Medicine, St. Louis, Missouri, USA.
Rhode PR; HCW Biologics Inc., Miramar, Florida, USA.
Wong HC; HCW Biologics Inc., Miramar, Florida, USA.
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Źródło:
Aging cell [Aging Cell] 2023 May; Vol. 22 (5), pp. e13806. Date of Electronic Publication: 2023 Mar 26.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
Senescence-Associated Secretory Phenotype*
Cellular Senescence*/genetics
Mice ; Animals ; Aging ; Inflammation ; Immunotherapy ; Phenotype
Czasopismo naukowe
Tytuł:
The variant senescence-associated secretory phenotype induced by centrosome amplification constitutes a pathway that activates hypoxia-inducible factor-1α.
Autorzy:
Wu SK; Department of Cell Biology, Harvard Medical School, Massachusetts, Boston, USA.; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Massachusetts, Boston, USA.
Ariffin J; Department of Surgery, Cancer Research Institute, Beth Israel Deaconess Medical Center, Harvard Medical School, Massachusetts, Boston, USA.
Tay SC; Mechanobiology Institute, National University of Singapore, Singapore.
Picone R; Department of Cell Biology, Harvard Medical School, Massachusetts, Boston, USA.; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Massachusetts, Boston, USA.
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Źródło:
Aging cell [Aging Cell] 2023 Mar; Vol. 22 (3), pp. e13766. Date of Electronic Publication: 2023 Jan 20.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Senescence-Associated Secretory Phenotype*
Neoplasms*/pathology
Humans ; Hypoxia-Inducible Factor 1, alpha Subunit/genetics ; Cellular Senescence/genetics ; Centrosome/metabolism ; Centrosome/pathology ; Carcinogenesis ; Phenotype ; NF-kappa B/metabolism
Czasopismo naukowe
Tytuł:
Long-Term Cultured Human Glioblastoma Multiforme Cells Demonstrate Increased Radiosensitivity and Senescence-Associated Secretory Phenotype in Response to Irradiation.
Autorzy:
Alhaddad L; School of Biological and Medical Physics, Moscow Institute of Physics and Technology (National Research University), 141701 Dolgoprudny, Russia.; Department of Environmental Sciences, Faculty of Sciences, Damascus University, Damascus P.O. Box 30621, Syria.
Nofal Z; School of Biological and Medical Physics, Moscow Institute of Physics and Technology (National Research University), 141701 Dolgoprudny, Russia.
Pustovalova M; School of Biological and Medical Physics, Moscow Institute of Physics and Technology (National Research University), 141701 Dolgoprudny, Russia.; State Research Center-Burnasyan Federal Medical Biophysical Center of Federal Medical Biological Agency (SRC-FMBC), 123098 Moscow, Russia.
Osipov AN; School of Biological and Medical Physics, Moscow Institute of Physics and Technology (National Research University), 141701 Dolgoprudny, Russia.; State Research Center-Burnasyan Federal Medical Biophysical Center of Federal Medical Biological Agency (SRC-FMBC), 123098 Moscow, Russia.; N.N. Semenov Federal Research Center for Chemical Physics, Russian Academy of Sciences, 119991 Moscow, Russia.
Leonov S; School of Biological and Medical Physics, Moscow Institute of Physics and Technology (National Research University), 141701 Dolgoprudny, Russia.; Institute of Cell Biophysics, Russian Academy of Sciences, 142290 Pushchino, Russia.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Jan 19; Vol. 24 (3). Date of Electronic Publication: 2023 Jan 19.
Typ publikacji:
Journal Article
MeSH Terms:
Senescence-Associated Secretory Phenotype*
Glioblastoma*/metabolism
Humans ; Cellular Senescence ; Cell Line ; Cells, Cultured ; Radiation Tolerance ; Phenotype
Czasopismo naukowe
Tytuł:
Crop-GPA: an integrated platform of crop gene-phenotype associations.
Autorzy:
Gao Y; School of Information and Artificial Intelligence, Anhui Beidou Precision Agriculture Information Engineering Research Center, Anhui Agricultural University, Hefei, Anhui, 230036, China.
Zhou Q; School of Information and Artificial Intelligence, Anhui Beidou Precision Agriculture Information Engineering Research Center, Anhui Agricultural University, Hefei, Anhui, 230036, China.
Luo J; School of Information and Artificial Intelligence, Anhui Beidou Precision Agriculture Information Engineering Research Center, Anhui Agricultural University, Hefei, Anhui, 230036, China.
Xia C; School of Information and Artificial Intelligence, Anhui Beidou Precision Agriculture Information Engineering Research Center, Anhui Agricultural University, Hefei, Anhui, 230036, China.
Zhang Y; School of Information and Artificial Intelligence, Anhui Beidou Precision Agriculture Information Engineering Research Center, Anhui Agricultural University, Hefei, Anhui, 230036, China. .
Yue Z; School of Information and Artificial Intelligence, Anhui Beidou Precision Agriculture Information Engineering Research Center, Anhui Agricultural University, Hefei, Anhui, 230036, China. .
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Źródło:
NPJ systems biology and applications [NPJ Syst Biol Appl] 2024 Feb 12; Vol. 10 (1), pp. 15. Date of Electronic Publication: 2024 Feb 12.
Typ publikacji:
Journal Article
MeSH Terms:
Phenotype*
Crops, Agricultural/genetics ; Genes, Plant
Czasopismo naukowe
Tytuł:
Development of a Low-Cost Distributed Computing Pipeline for High-Throughput Cotton Phenotyping.
Autorzy:
Thesma V; School of Electrical and Computer Engineering, University of Georgia, Athens, GA 30602, USA.
Rains GC; Department of Entomology, University of Georgia Tifton Campus, Tifton, GA 31793, USA.
Mohammadpour Velni J; Department of Mechanical Engineering, Clemson University, Clemson, SC 29634, USA.
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Źródło:
Sensors (Basel, Switzerland) [Sensors (Basel)] 2024 Feb 02; Vol. 24 (3). Date of Electronic Publication: 2024 Feb 02.
Typ publikacji:
Journal Article
MeSH Terms:
Gossypium*
Phenotype*
Humans ; Electronic Data Processing
Czasopismo naukowe
Tytuł:
A 14-bp deletion in bovine EPAS1 gene is associated with carcass traits.
Autorzy:
Jiang E; Shaanxi Key Laboratory of Molecular Biology for Agriculture, College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, China.
Wang H; Shaanxi Key Laboratory of Molecular Biology for Agriculture, College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, China.
Li X; Shaanxi Key Laboratory of Molecular Biology for Agriculture, College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, China.
Bi Y; Shaanxi Key Laboratory of Molecular Biology for Agriculture, College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, China.
Mao C; Shaanxi Key Laboratory of Molecular Biology for Agriculture, College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, China.
Jiang F; Institute of Animal Science and Veterinary, Shandong Academy of Agriculture Science, Jinan, Shandong, China.
Song E; Institute of Animal Science and Veterinary, Shandong Academy of Agriculture Science, Jinan, Shandong, China.
Lan X; Shaanxi Key Laboratory of Molecular Biology for Agriculture, College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, China.
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Źródło:
Animal biotechnology [Anim Biotechnol] 2023 Dec; Vol. 34 (9), pp. 4553-4558. Date of Electronic Publication: 2023 Jan 22.
Typ publikacji:
Journal Article
MeSH Terms:
Phenotype*
Female ; Cattle/genetics ; Animals ; Genotype
Czasopismo naukowe
Tytuł:
A novel approach for predicting upstream regulators (PURE) that affect gene expression.
Autorzy:
Nguyen TM; Department of Computer Science, Wayne State University, Detroit, 48202, USA.
Craig DB; Department of Computer Science, Wayne State University, Detroit, 48202, USA.; Department of Oncology, School of Medicine, Wayne State University, Detroit, MI, 48201, USA.
Tran D; Department of Medicine, Washington University School of Medicine, St. Louis, MO, 63110, USA.
Nguyen T; Department of Computer Science and Software Engineering, Auburn University, Auburn, 36849, USA.
Draghici S; Department of Computer Science, Wayne State University, Detroit, 48202, USA. .; Advaita Bioinformatics, Ann Arbor, MI, 48105, USA. .
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Źródło:
Scientific reports [Sci Rep] 2023 Oct 30; Vol. 13 (1), pp. 18571. Date of Electronic Publication: 2023 Oct 30.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms:
Phenotype*
Animals ; Humans ; Mice ; Rats ; Gene Expression
Czasopismo naukowe
Tytuł:
New insights on Celtic migration in Hungary and Italy through the analysis of non-metric dental traits.
Autorzy:
Piccirilli E; Department of Cultural Heritage, University of Bologna, Ravenna, Italy.
Sorrentino R; Department of Biological, Geological and Environmental Sciences-BiGeA, University of Bologna, Bologna, Italy.
Lugli F; Department of Cultural Heritage, University of Bologna, Ravenna, Italy.; Department of Chemical and Geological Science, University of Modena and Reggio Emilia, Modena, Italy.
Bortolini E; Department of Cultural Heritage, University of Bologna, Ravenna, Italy.; Department of Archaeology and Anthropology, IMF-CSIC (Spanish National Research Centre), Barcelona, Spain.
Silvestrini S; Department of Cultural Heritage, University of Bologna, Ravenna, Italy.
Cavazzuti C; Department of History and Cultures, University of Bologna, Bologna, Italy.
Conti S; Department of Cultural Heritage, University of Bologna, Ravenna, Italy.
Czifra S; National Institute of Archaeology, Hungarian National Museum, Budapest, Hungary.
Gyenesei K; Department of Biological Anthropology, Faculty of Science, Institute of Biology, Eötvös Loránd University, Budapest, Hungary.
Köhler K; Hungarian Natural History Museum, Department of Anthropology, Budapest, Hungary.
Tankó K; ELKH-ELTE Interdisciplinary Archaeological Research Group, Eötvös Loránd University, Budapest, Hungary.
Vazzana A; Department of Cultural Heritage, University of Bologna, Ravenna, Italy.
Jerem E; Hungarian Natural History Museum, Department of Anthropology, Budapest, Hungary.
Cipriani A; Department of Chemical and Geological Science, University of Modena and Reggio Emilia, Modena, Italy.; Lamont-Doherty Earth Observatory of Columbia University, Palisades, NY, United States of America.
Gottarelli A; Department of History and Cultures, University of Bologna, Bologna, Italy.
Belcastro MG; Department of Biological, Geological and Environmental Sciences-BiGeA, University of Bologna, Bologna, Italy.
Hajdu T; Department of Biological Anthropology, Faculty of Science, Institute of Biology, Eötvös Loránd University, Budapest, Hungary.
Benazzi S; Department of Cultural Heritage, University of Bologna, Ravenna, Italy.
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Źródło:
PloS one [PLoS One] 2023 Oct 18; Vol. 18 (10), pp. e0293090. Date of Electronic Publication: 2023 Oct 18 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Phenotype*
Humans ; Hungary ; Italy ; Europe ; Austria
Czasopismo naukowe
Tytuł:
Phenotypic link between protein efficiency and pig welfare suggests no apparent trade-offs for mitigating nitrogen pollution.
Autorzy:
Roch L; Animal GenoPhenomics, Agroscope, Tioleyre 4, 1725, Posieux, Switzerland.; Animal Welfare Division, Veterinary Public Health Institute, University of Bern, Länggassstrasse 120, 3012, Bern, Switzerland.
Ewaoluwagbemiga EO; Animal GenoPhenomics, Agroscope, Tioleyre 4, 1725, Posieux, Switzerland.; Department of Environmental Systems Science, ETH Zurich, Universitätstrasse 2, 8092, Zurich, Switzerland.
Kasper C; Animal GenoPhenomics, Agroscope, Tioleyre 4, 1725, Posieux, Switzerland. .
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Źródło:
Scientific reports [Sci Rep] 2023 Aug 31; Vol. 13 (1), pp. 14299. Date of Electronic Publication: 2023 Aug 31.
Typ publikacji:
Clinical Trial, Veterinary; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Animal Welfare*
Behavior, Animal*/drug effects
Environmental Pollution*/prevention & control
Nitrogen*/metabolism
Phenotype*
Proteins*/chemistry
Proteins*/metabolism
Swine*/genetics
Swine*/metabolism
Animals ; Female ; Male ; Animal Feed/analysis ; Diet/veterinary ; Dietary Proteins/chemistry ; Dietary Proteins/pharmacology ; Manure/analysis ; Tail ; Environmental Pollutants/metabolism
Czasopismo naukowe
Tytuł:
Isolation methodology is essential to the evaluation of the extracellular vesicle component of the senescence-associated secretory phenotype.
Autorzy:
Wallis R; Blizard Institute of Cell and Molecular Science Barts and The London School of Medicine and Dentistry London UK.
Josipovic N; Institute of Pathology University Medical Centre Göttingen Göttingen Germany.
Mizen H; Blizard Institute of Cell and Molecular Science Barts and The London School of Medicine and Dentistry London UK.
Robles-Tenorio A; Blizard Institute of Cell and Molecular Science Barts and The London School of Medicine and Dentistry London UK.
Tyler EJ; Blizard Institute of Cell and Molecular Science Barts and The London School of Medicine and Dentistry London UK.
Papantonis A; Institute of Pathology University Medical Centre Göttingen Göttingen Germany.
Bishop CL; Blizard Institute of Cell and Molecular Science Barts and The London School of Medicine and Dentistry London UK.
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Źródło:
Journal of extracellular vesicles [J Extracell Vesicles] 2021 Feb; Vol. 10 (4), pp. e12041. Date of Electronic Publication: 2021 Feb 18.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cellular Senescence*
Senescence-Associated Secretory Phenotype*
Aging/*metabolism
Extracellular Vesicles/*metabolism
Secretome/*metabolism
Cell Line, Tumor ; Cells, Cultured ; Chromatography, Gel ; Exosomes/chemistry ; Exosomes/metabolism ; Extracellular Vesicles/chemistry ; Humans ; Phenotype ; Proteins/analysis ; Proteomics/methods
Czasopismo naukowe
Tytuł:
Genotype-phenotype associations in microtia: a systematic review.
Autorzy:
Wahdini SI; Plastic Reconstructive and Aesthetic Surgery Division, Department of Surgery, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada /Dr. Sardjito Hospital, Yogyakarta, Indonesia.
Idamatussilmi F; Plastic Reconstructive and Aesthetic Surgery Division, Department of Surgery, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada /Dr. Sardjito Hospital, Yogyakarta, Indonesia.
Pramanasari R; Plastic Reconstructive and Aesthetic Surgery Department, Faculty of Medicine, Airlangga University/Airlangga University Hospital, Surabaya, East Java, Indonesia.
Prawoto AN; Plastic Reconstructive and Aesthetic Surgery Department, Faculty of Medicine, Airlangga University/Airlangga University Hospital, Surabaya, East Java, Indonesia.
Wungu CDK; Department of Physiology and Medical Biochemistry, Faculty of Medicine, Airlangga University, Surabaya, East Java, Indonesia.
Putri IL; Plastic Reconstructive and Aesthetic Surgery Department, Faculty of Medicine, Airlangga University/Airlangga University Hospital, Surabaya, East Java, Indonesia.
Gunadi; Pediatric Surgery Division, Department of Surgery, Genetics Working Group/Translational Research Unit, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Jl. Kesehatan No. 1, Yogyakarta, 55281, Indonesia. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Apr 09; Vol. 19 (1), pp. 152. Date of Electronic Publication: 2024 Apr 09.
Typ publikacji:
Systematic Review; Journal Article
MeSH Terms:
Congenital Microtia*/genetics
Humans ; Homeodomain Proteins/genetics ; Ear/abnormalities ; Phenotype ; Syndrome ; Genetic Association Studies
Czasopismo naukowe
Tytuł:
Phenotype versus genotype to optimize cancer dosing in the clinical setting-focus on 5-fluorouracil and tyrosine kinase inhibitors.
Autorzy:
Martin JH; Drug Repurposing and Medicines Research Program, Hunter Medical Research Institute, New Lambton Heights, New South Wales, Australia.
Galettis P; Drug Repurposing and Medicines Research Program, Hunter Medical Research Institute, New Lambton Heights, New South Wales, Australia.
Flynn A; Drug Repurposing and Medicines Research Program, Hunter Medical Research Institute, New Lambton Heights, New South Wales, Australia.
Schneider J; Drug Repurposing and Medicines Research Program, Hunter Medical Research Institute, New Lambton Heights, New South Wales, Australia.
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Źródło:
Pharmacology research & perspectives [Pharmacol Res Perspect] 2024 Apr; Vol. 12 (2), pp. e1182.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Fluorouracil*
Neoplasms*/drug therapy
Neoplasms*/genetics
Neoplasms*/chemically induced
Humans ; Tyrosine Kinase Inhibitors ; Phenotype ; Genotype
Czasopismo naukowe
Tytuł:
The fitness trade-off between growth and stress resistance determines the phenotypic landscape.
Autorzy:
Kim D; Department of Bio and Brain Engineering, Korea Advanced Institute of Science and Technology (KAIST), 291 Daehak-Ro, Yuseong-Gu, Daejeon, 34141, Republic of Korea.
Hwang CY; Department of Bio and Brain Engineering, Korea Advanced Institute of Science and Technology (KAIST), 291 Daehak-Ro, Yuseong-Gu, Daejeon, 34141, Republic of Korea.
Cho KH; Department of Bio and Brain Engineering, Korea Advanced Institute of Science and Technology (KAIST), 291 Daehak-Ro, Yuseong-Gu, Daejeon, 34141, Republic of Korea. .
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Źródło:
BMC biology [BMC Biol] 2024 Mar 13; Vol. 22 (1), pp. 62. Date of Electronic Publication: 2024 Mar 13.
Typ publikacji:
Journal Article
MeSH Terms:
Biological Evolution*
Antineoplastic Agents*
Humans ; Phenotype
Czasopismo naukowe
Tytuł:
Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review.
Autorzy:
Pacot L; Fédération de Génétique et Médecine Génomique, Hôpital Cochin, DMU BioPhyGen, AP-HP, Centre-Université Paris Cité, Paris, France.; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.
Girish M; School of Clinical Medicine, University of Cambridge, Cambridge, UK.
Knight S; School of Clinical Medicine, University of Cambridge, Cambridge, UK.
Spurlock G; Cardiff University, Cardiff, Great Britain.
Varghese V; All Wales Medical Genomics Service, Cardiff, Great Britain.
Ye M; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.
Thomas N; School of Clinical Medicine, University of Cambridge, Cambridge, UK.
Pasmant E; Fédération de Génétique et Médecine Génomique, Hôpital Cochin, DMU BioPhyGen, AP-HP, Centre-Université Paris Cité, Paris, France. .; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France. .
Upadhyaya M; Division of Cancer and Genetics, Institute of Medical Genetics, Cardiff University, Heath Park, CF14 4XN, Cardiff, UK.
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Źródło:
BMC medical genomics [BMC Med Genomics] 2024 Mar 06; Vol. 17 (1), pp. 73. Date of Electronic Publication: 2024 Mar 06.
Typ publikacji:
Journal Article
MeSH Terms:
DNA Copy Number Variations*
Skin Neoplasms*
Humans ; Comparative Genomic Hybridization ; Genomics ; Phenotype
Czasopismo naukowe
Tytuł:
PRPH2 -Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
Autorzy:
Fernández-Caballero L; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Martín-Merida I; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Blanco-Kelly F; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Avila-Fernandez A; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Carreño E; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital, 28040 Madrid, Spain.
Fernandez-San Jose P; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Department of Genetics, Ramón y Cajal University Hospital, 28034 Madrid, Spain.; Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), 28034 Madrid, Spain.
Irigoyen C; Ophthalmology Service, Donostia University Hospital, 20014 Donostia-San Sebastián, Spain.
Jimenez-Rolando B; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital, 28040 Madrid, Spain.
Lopez-Grondona F; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Mahillo I; Department of Statistics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.
Martin-Gutierrez MP; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital, 28040 Madrid, Spain.
Minguez P; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Bioinformatics Unit, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.
Perea-Romero I; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Del Pozo-Valero M; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Riveiro-Alvarez R; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Rodilla C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Rodriguez-Peña L; Sección de Genética Medica, Servicio de Pediatría, HCU Virgen de la Arrixaca, 30120 Murcia, Spain.
Sánchez-Barbero AI; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Swafiri ST; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Trujillo-Tiebas MJ; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Zurita O; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
García-Sandoval B; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital, 28040 Madrid, Spain.
Corton M; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Ayuso C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Mar 02; Vol. 25 (5). Date of Electronic Publication: 2024 Mar 02.
Typ publikacji:
Journal Article
MeSH Terms:
Retinal Dystrophies*/genetics
Retinitis Pigmentosa*/genetics
Humans ; DNA Mutational Analysis ; Mutation ; Mutation, Missense ; Phenotype
Czasopismo naukowe
Tytuł:
Clinicopathological features of adult T-cell leukemia/lymphoma with T-follicular helper phenotype.
Autorzy:
Muto R; Department of Pathology, National Hospital Organization (NHO), Kumamoto Medical Center, Kumamoto, Japan.; Department of Pathology, Kurume University School of Medicine, Kurume, Japan.; Department of Pathology, Fukuoka University School of Medicine, Fukuoka, Japan.
Miyoshi H; Department of Pathology, Kurume University School of Medicine, Kurume, Japan.
Nakashima K; Department of Pathology, Kurume University School of Medicine, Kurume, Japan.
Takeuchi M; Department of Pathology, Kurume University School of Medicine, Kurume, Japan.
Hamasaki M; Department of Pathology, Fukuoka University School of Medicine, Fukuoka, Japan.
Ohshima K; Department of Pathology, Kurume University School of Medicine, Kurume, Japan.
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Źródło:
Cancer medicine [Cancer Med] 2024 Mar; Vol. 13 (6), pp. e7050.
Typ publikacji:
Journal Article
MeSH Terms:
Leukemia-Lymphoma, Adult T-Cell*/diagnosis
Leukemia-Lymphoma, Adult T-Cell*/genetics
Lymphoma*/pathology
Adult ; Humans ; Prognosis ; Phenotype ; T-Lymphocytes, Helper-Inducer/metabolism ; T-Lymphocytes, Helper-Inducer/pathology
Czasopismo naukowe
Tytuł:
Okur-Chung neurodevelopmental syndrome: Implications for phenotype and genotype expansion.
Autorzy:
Nan H; Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.
Chu M; Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.
Zhang J; Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.
Jiang D; Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.
Wang Y; Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.
Wu L; Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.; National Clinical Research Center for Geriatric Diseases, Beijing, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2398.
Typ publikacji:
Case Reports; Journal Article; Review; Systematic Review
MeSH Terms:
Intellectual Disability*/genetics
Adult ; Female ; Humans ; Asian People ; Databases, Factual ; Genotype ; Phenotype
Czasopismo naukowe
Tytuł:
Phenotypes of osteoarthritis-related knee pain and their transition over time: data from the osteoarthritis initiative.
Autorzy:
Ye J; Department of Orthopaedics, Xiangya Hospital, Central South University, Changsha, China.
Xie D; Department of Orthopaedics, Xiangya Hospital, Central South University, Changsha, China.
Li X; Hunan Key Laboratory of Joint Degeneration and Injury, Xiangya Hospital, Central South University, Changsha, China.; Key Laboratory of Aging-related Bone and Joint Diseases Prevention and Treatment, Ministry of Education, Xiangya Hospital, Central South University, Changsha, China.
Lu N; Arthritis Research Canada, Richmond, Canada.
Zeng C; Department of Orthopaedics, Xiangya Hospital, Central South University, Changsha, China.; Hunan Key Laboratory of Joint Degeneration and Injury, Xiangya Hospital, Central South University, Changsha, China.; Key Laboratory of Aging-related Bone and Joint Diseases Prevention and Treatment, Ministry of Education, Xiangya Hospital, Central South University, Changsha, China.; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China.; Department of Epidemiology and Health Statistics, Xiangya School of Public Health, Central South University, Changsha, China.
Lei G; Department of Orthopaedics, Xiangya Hospital, Central South University, Changsha, China.; Hunan Key Laboratory of Joint Degeneration and Injury, Xiangya Hospital, Central South University, Changsha, China.; Key Laboratory of Aging-related Bone and Joint Diseases Prevention and Treatment, Ministry of Education, Xiangya Hospital, Central South University, Changsha, China.; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China.
Wei J; Department of Orthopaedics, Xiangya Hospital, Central South University, Changsha, China.; Hunan Key Laboratory of Joint Degeneration and Injury, Xiangya Hospital, Central South University, Changsha, China.; Key Laboratory of Aging-related Bone and Joint Diseases Prevention and Treatment, Ministry of Education, Xiangya Hospital, Central South University, Changsha, China.; Department of Epidemiology and Health Statistics, Xiangya School of Public Health, Central South University, Changsha, China.
Li J; Department of Orthopaedics, Xiangya Hospital, Central South University, Changsha, China. .
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Źródło:
BMC musculoskeletal disorders [BMC Musculoskelet Disord] 2024 Feb 24; Vol. 25 (1), pp. 173. Date of Electronic Publication: 2024 Feb 24.
Typ publikacji:
Journal Article
MeSH Terms:
Knee Joint*
Osteoarthritis, Knee*/complications
Osteoarthritis, Knee*/diagnosis
Osteoarthritis, Knee*/epidemiology
Humans ; Female ; Male ; Knee ; Pain ; Phenotype ; Disease Progression
Czasopismo naukowe
Tytuł:
Intensive lifestyle intervention in type 2 diabetes and risk of incident coronary artery disease for the common haptoglobin phenotypes: the Look AHEAD study.
Autorzy:
Warren RA; Department of Medicine, Dalhousie University, Halifax, Canada.; QEII Health Sciences Centre, Nova Scotia Health Authority, Halifax, Canada.
Bancks MP; Department of Epidemiology and Prevention, Wake Forest University School of Medicine, Winston-Salem, USA.
Carew AS; Department of Medicine, Dalhousie University, Halifax, Canada.; QEII Health Sciences Centre, Nova Scotia Health Authority, Halifax, Canada.; Department of Community Health and Epidemiology, Dalhousie University, Halifax, Canada.
Levy AP; Rappaport Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel.
Sapp J; Department of Medicine, Dalhousie University, Halifax, Canada.; QEII Health Sciences Centre, Nova Scotia Health Authority, Halifax, Canada.
Bahnson J; Department of Biostatistics and Data Science, Wake Forest University School of Medicine, Winston-Salem, USA.
Lewis CE; Department of Epidemiology, University of Alabama at Birmingham, Birmingham, USA.
Rimm EB; Department of Nutrition, Harvard T. H. Chan School of Public Health, Boston, USA.; Department of Epidemiology, Harvard T. H. Chan School of Public Health, Boston, USA.
Espeland MA; Department of Biostatistics and Data Science, Wake Forest University School of Medicine, Winston-Salem, USA.; Department of Internal Medicine-Gerontology and Geriatric Medicine, Wake Forest University School of Medicine, Winston-Salem, USA.
Cahill LE; Department of Medicine, Dalhousie University, Halifax, Canada. .; QEII Health Sciences Centre, Nova Scotia Health Authority, Halifax, Canada. .; Department of Community Health and Epidemiology, Dalhousie University, Halifax, Canada. .
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Źródło:
Cardiovascular diabetology [Cardiovasc Diabetol] 2024 Feb 24; Vol. 23 (1), pp. 82. Date of Electronic Publication: 2024 Feb 24.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
Diabetes Mellitus, Type 2*/diagnosis
Diabetes Mellitus, Type 2*/epidemiology
Diabetes Mellitus, Type 2*/therapy
Coronary Artery Disease*/diagnosis
Coronary Artery Disease*/epidemiology
Coronary Artery Disease*/prevention & control
Cardiovascular Diseases*/complications
Humans ; Haptoglobins/genetics ; Life Style ; Phenotype ; Weight Loss
Czasopismo naukowe

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