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Wyszukujesz frazę ""Phenotype"" wg kryterium: Temat


Tytuł:
A spectrum of recessiveness among Mendelian disease variants in UK Biobank.
Autorzy:
Barton AR; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Bioinformatics and Integrative Genomics Program, Department of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA. Electronic address: .
Hujoel MLA; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Mukamel RE; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Sherman MA; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.
Loh PR; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. Electronic address: .
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Źródło:
American journal of human genetics [Am J Hum Genet] 2022 Jul 07; Vol. 109 (7), pp. 1298-1307. Date of Electronic Publication: 2022 May 31.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms:
Antley-Bixler Syndrome Phenotype*/genetics
Cystic Fibrosis*/genetics
Lung Diseases, Interstitial*/genetics
Alleles ; Databases, Factual ; Genetic Predisposition to Disease ; Humans ; Muscular Atrophy, Spinal/genetics ; Penetrance ; Phenotype ; United Kingdom
Czasopismo naukowe
Tytuł:
Senescence-associated secretory phenotype and its impact on oral immune homeostasis.
Autorzy:
Yue Z; State Key Laboratory of Oral Diseases, National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, China.; Department of Prosthodontics, West China Hospital of Stomatology, Sichuan University, Chengdu, China.
Nie L; State Key Laboratory of Oral Diseases, National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, China.; Department of Prosthodontics, West China Hospital of Stomatology, Sichuan University, Chengdu, China.
Zhao P; State Key Laboratory of Oral Diseases, National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, China.; Department of Prosthodontics, West China Hospital of Stomatology, Sichuan University, Chengdu, China.; Faculty of Dentistry, The University of Hong Kong, Sai Ying Pun, Hong Kong SAR, China.
Ji N; State Key Laboratory of Oral Diseases, National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, China.; Department of Prosthodontics, West China Hospital of Stomatology, Sichuan University, Chengdu, China.
Liao G; State Key Laboratory of Oral Diseases, National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, China.; Department of Information Management, Department of Stomatology Informatics, West China Hospital of Stomatology, Sichuan University, Chengdu, China.
Wang Q; State Key Laboratory of Oral Diseases, National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, China.; Department of Prosthodontics, West China Hospital of Stomatology, Sichuan University, Chengdu, China.
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Źródło:
Frontiers in immunology [Front Immunol] 2022 Oct 04; Vol. 13, pp. 1019313. Date of Electronic Publication: 2022 Oct 04 (Print Publication: 2022).
Typ publikacji:
Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:
Cellular Senescence*/genetics
Senescence-Associated Secretory Phenotype*
Cytokines/metabolism ; Homeostasis ; Peptide Hydrolases ; Lipids
Czasopismo naukowe
Tytuł:
Blocking PD-L1-PD-1 improves senescence surveillance and ageing phenotypes.
Autorzy:
Wang TW; Division of Cancer Cell Biology, Institute of Medical Science, University of Tokyo, Tokyo, Japan.
Johmura Y; Division of Cancer Cell Biology, Institute of Medical Science, University of Tokyo, Tokyo, Japan. .; Division of Cancer and Senescence Biology, Cancer Research Institute, Kanazawa University, Kakuma, Kanazawa, Japan. .
Suzuki N; Division of Cancer Cell Biology, Institute of Medical Science, University of Tokyo, Tokyo, Japan.
Omori S; Division of Cancer Cell Biology, Institute of Medical Science, University of Tokyo, Tokyo, Japan.
Migita T; Division of Cancer Cell Biology, Institute of Medical Science, University of Tokyo, Tokyo, Japan.
Yamaguchi K; Division of Clinical Genome Research, Institute of Medical Science, University of Tokyo, Tokyo, Japan.
Hatakeyama S; Division of Clinical Genome Research, Institute of Medical Science, University of Tokyo, Tokyo, Japan.
Yamazaki S; Division of Stem Cell Biology, Center for Stem Cell Biology and Regenerative Medicine, Institute of Medical Science, University of Tokyo, Tokyo, Japan.; Laboratory of Stem Cell Therapy, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.
Shimizu E; Division of Health Medical Intelligence, Human Genome Center, Institute of Medical Science, University of Tokyo, Tokyo, Japan.
Imoto S; Division of Health Medical Intelligence, Human Genome Center, Institute of Medical Science, University of Tokyo, Tokyo, Japan.
Furukawa Y; Division of Clinical Genome Research, Institute of Medical Science, University of Tokyo, Tokyo, Japan.
Yoshimura A; Department of Microbiology and Immunology, Keio University School of Medicine, Tokyo, Japan.
Nakanishi M; Division of Cancer Cell Biology, Institute of Medical Science, University of Tokyo, Tokyo, Japan. .
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Źródło:
Nature [Nature] 2022 Nov; Vol. 611 (7935), pp. 358-364. Date of Electronic Publication: 2022 Nov 02.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Aging*/immunology
Aging*/metabolism
Aging*/pathology
B7-H1 Antigen*/antagonists & inhibitors
B7-H1 Antigen*/metabolism
Phenotype*
Programmed Cell Death 1 Receptor*/antagonists & inhibitors
Programmed Cell Death 1 Receptor*/metabolism
Animals ; Mice ; CD8-Positive T-Lymphocytes/immunology ; CD8-Positive T-Lymphocytes/pathology ; Inflammation/pathology ; Single-Cell Analysis ; Non-alcoholic Fatty Liver Disease ; Liver ; Rejuvenation
Czasopismo naukowe
Tytuł:
Environmental signal in the evolutionary diversification of bird skeletons.
Autorzy:
Navalón G; Department of Earth Sciences, University of Cambridge, Cambridge, UK. .; Department of Earth Sciences, University of Oxford, Oxford, UK. .; Unidad de Paleontología, Departamento de Biología, Universidad Autónoma de Madrid, Madrid, Spain. .
Bjarnason A; Department of Earth Sciences, University of Oxford, Oxford, UK.
Griffiths E; Department of Earth Sciences, University of Oxford, Oxford, UK.
Benson RBJ; Department of Earth Sciences, University of Oxford, Oxford, UK. .
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Źródło:
Nature [Nature] 2022 Nov; Vol. 611 (7935), pp. 306-311. Date of Electronic Publication: 2022 Oct 26.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Biological Evolution*
Birds*/anatomy & histology
Birds*/classification
Phenotype*
Skeleton*/anatomy & histology
Environment*
Animals ; Extremities/anatomy & histology ; Locomotion ; Mosaicism ; Beak
Czasopismo naukowe
Tytuł:
Phenotypic plasticity and genetic control in colorectal cancer evolution.
Autorzy:
Househam J; Centre for Evolution and Cancer, The Institute of Cancer Research, London, UK.; Centre for Genomics and Computational Biology, Barts Cancer Institute, Queen Mary University of London, London, UK.
Heide T; Centre for Evolution and Cancer, The Institute of Cancer Research, London, UK.; Computational Biology Research Centre, Human Technopole, Milan, Italy.
Cresswell GD; Centre for Evolution and Cancer, The Institute of Cancer Research, London, UK.
Spiteri I; Centre for Evolution and Cancer, The Institute of Cancer Research, London, UK.
Kimberley C; Centre for Genomics and Computational Biology, Barts Cancer Institute, Queen Mary University of London, London, UK.
Zapata L; Centre for Evolution and Cancer, The Institute of Cancer Research, London, UK.
Lynn C; Centre for Evolution and Cancer, The Institute of Cancer Research, London, UK.
James C; Centre for Evolution and Cancer, The Institute of Cancer Research, London, UK.
Mossner M; Centre for Evolution and Cancer, The Institute of Cancer Research, London, UK.; Centre for Genomics and Computational Biology, Barts Cancer Institute, Queen Mary University of London, London, UK.
Fernandez-Mateos J; Centre for Evolution and Cancer, The Institute of Cancer Research, London, UK.
Vinceti A; Computational Biology Research Centre, Human Technopole, Milan, Italy.
Baker AM; Centre for Evolution and Cancer, The Institute of Cancer Research, London, UK.; Centre for Genomics and Computational Biology, Barts Cancer Institute, Queen Mary University of London, London, UK.
Gabbutt C; Centre for Evolution and Cancer, The Institute of Cancer Research, London, UK.; Centre for Genomics and Computational Biology, Barts Cancer Institute, Queen Mary University of London, London, UK.
Berner A; Centre for Genomics and Computational Biology, Barts Cancer Institute, Queen Mary University of London, London, UK.
Schmidt M; Centre for Genomics and Computational Biology, Barts Cancer Institute, Queen Mary University of London, London, UK.
Chen B; Centre for Evolution and Cancer, The Institute of Cancer Research, London, UK.
Lakatos E; Centre for Evolution and Cancer, The Institute of Cancer Research, London, UK.; Centre for Genomics and Computational Biology, Barts Cancer Institute, Queen Mary University of London, London, UK.
Gunasri V; Centre for Evolution and Cancer, The Institute of Cancer Research, London, UK.; Centre for Genomics and Computational Biology, Barts Cancer Institute, Queen Mary University of London, London, UK.
Nichol D; Centre for Evolution and Cancer, The Institute of Cancer Research, London, UK.
Costa H; UCL Cancer Institute, University College London, London, UK.
Mitchinson M; Histopathology Department, University College London Hospitals NHS Foundation Trust, London, UK.
Ramazzotti D; Department of Medicine and Surgery, University of Milano-Bicocca, Milan, Italy.
Werner B; Centre for Genomics and Computational Biology, Barts Cancer Institute, Queen Mary University of London, London, UK.
Iorio F; Computational Biology Research Centre, Human Technopole, Milan, Italy.
Jansen M; UCL Cancer Institute, University College London, London, UK.
Caravagna G; Centre for Evolution and Cancer, The Institute of Cancer Research, London, UK.; Department of Mathematics and Geosciences, University of Trieste, Trieste, Italy.
Barnes CP; Department of Cell and Developmental Biology, University College London, London, UK.
Shibata D; Department of Pathology, University of Southern California Keck School of Medicine, Los Angeles, CA, USA.
Bridgewater J; UCL Cancer Institute, University College London, London, UK.
Rodriguez-Justo M; UCL Cancer Institute, University College London, London, UK.
Magnani L; Department of Surgery and Cancer, Imperial College London, London, UK.
Sottoriva A; Centre for Evolution and Cancer, The Institute of Cancer Research, London, UK. .; Computational Biology Research Centre, Human Technopole, Milan, Italy. .
Graham TA; Centre for Evolution and Cancer, The Institute of Cancer Research, London, UK. .; Centre for Genomics and Computational Biology, Barts Cancer Institute, Queen Mary University of London, London, UK. .
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Źródło:
Nature [Nature] 2022 Nov; Vol. 611 (7937), pp. 744-753. Date of Electronic Publication: 2022 Oct 26.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
Adaptation, Physiological*/genetics
Colorectal Neoplasms*/genetics
Colorectal Neoplasms*/pathology
Phenotype*
Gene Expression Regulation, Neoplastic*
Humans ; Clone Cells/metabolism ; Clone Cells/pathology ; Mutation ; Whole Exome Sequencing ; Transcription, Genetic
Czasopismo naukowe
Tytuł:
Cytochrome P450 oxidoreductase deficiency caused by a novel mutation in the POR gene in two siblings: case report and literature review.
Autorzy:
Unal E; Department of Pediatric Endocrinology, Gazi Yaşargil Training and Research Hospital, Diyarbakır, Turkey. .
Demiral M; Department of Pediatric Endocrinology, Gazi Yaşargil Training and Research Hospital, Diyarbakır, Turkey.
Yıldırım R; Department of Pediatric Endocrinology, Diyarbakır Children's Hospital, Diyarbakır, Turkey.
Taş FF; Department of Pediatric Endocrinology, Gazi Yaşargil Training and Research Hospital, Diyarbakır, Turkey.
Ceylaner S; Department of Medical Genetics, Intergen Genetic Diagnosis Center, Ankara, Turkey.
Özbek MN; Department of Pediatric Endocrinology, Gazi Yaşargil Training and Research Hospital, Diyarbakır, Turkey.
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Źródło:
Hormones (Athens, Greece) [Hormones (Athens)] 2021 Jun; Vol. 20 (2), pp. 293-298. Date of Electronic Publication: 2020 Oct 29.
Typ publikacji:
Case Reports; Journal Article; Review
MeSH Terms:
Adrenal Hyperplasia, Congenital*/diagnosis
Adrenal Hyperplasia, Congenital*/genetics
Antley-Bixler Syndrome Phenotype*/diagnosis
Antley-Bixler Syndrome Phenotype*/genetics
Adrenocorticotropic Hormone ; Child ; Female ; Humans ; Hydrocortisone ; Infant ; Male ; Mutation ; Phenotype ; Siblings
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:
Extracellular Nicotinamide Phosphoribosyltransferase Is a Component of the Senescence-Associated Secretory Phenotype.
Autorzy:
Kuehnemann C; Jean Mayer USDA Human Nutrition Research Center on Aging at Tufts University, Boston, MA, United States.; Buck Institute for Research on Aging, Novato, CA, United States.
Hu KQ; Jean Mayer USDA Human Nutrition Research Center on Aging at Tufts University, Boston, MA, United States.
Butera K; Jean Mayer USDA Human Nutrition Research Center on Aging at Tufts University, Boston, MA, United States.
Patel SK; Buck Institute for Research on Aging, Novato, CA, United States.
Bons J; Buck Institute for Research on Aging, Novato, CA, United States.
Schilling B; Buck Institute for Research on Aging, Novato, CA, United States.
Aguayo-Mazzucato C; Joslin Diabetes Center, Harvard Medical School, Boston, MA, United States.
Wiley CD; Jean Mayer USDA Human Nutrition Research Center on Aging at Tufts University, Boston, MA, United States.
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Źródło:
Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2022 Jul 14; Vol. 13, pp. 935106. Date of Electronic Publication: 2022 Jul 14 (Print Publication: 2022).
Typ publikacji:
Journal Article
MeSH Terms:
Cytokines*/genetics
Cytokines*/metabolism
Diabetes Mellitus, Experimental*/metabolism
Nicotinamide Phosphoribosyltransferase*/genetics
Nicotinamide Phosphoribosyltransferase*/metabolism
Senescence-Associated Secretory Phenotype*/genetics
Senescence-Associated Secretory Phenotype*/physiology
AMP-Activated Protein Kinases/metabolism ; Animals ; Mice ; NAD/metabolism
Czasopismo naukowe
Tytuł:
Brain-phenotype models fail for individuals who defy sample stereotypes.
Autorzy:
Greene AS; Interdepartmental Neuroscience Program, Yale School of Medicine, New Haven, CT, USA. .; MD-PhD program, Yale School of Medicine, New Haven, CT, USA. .
Shen X; Depatment of Radiology and Biomedical Imaging, Yale School of Medicine, New Haven, CT, USA.
Noble S; Depatment of Radiology and Biomedical Imaging, Yale School of Medicine, New Haven, CT, USA.
Horien C; Interdepartmental Neuroscience Program, Yale School of Medicine, New Haven, CT, USA.; MD-PhD program, Yale School of Medicine, New Haven, CT, USA.
Hahn CA; Depatment of Radiology and Biomedical Imaging, Yale School of Medicine, New Haven, CT, USA.
Arora J; Depatment of Radiology and Biomedical Imaging, Yale School of Medicine, New Haven, CT, USA.
Tokoglu F; Depatment of Radiology and Biomedical Imaging, Yale School of Medicine, New Haven, CT, USA.
Spann MN; Department of Psychiatry, Columbia University Irving Medical Center, New York, NY, USA.
Carrión CI; Department of Neurology, Yale School of Medicine, New Haven, CT, USA.
Barron DS; Department of Anesthesiology and Pain Medicine, University of Washington, Seattle, WA, USA.; Department of Psychiatry, Yale School of Medicine, New Haven, CT, USA.; Department of Psychiatry, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Anesthesiology, Perioperative and Pain Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Sanacora G; Department of Psychiatry, Yale School of Medicine, New Haven, CT, USA.
Srihari VH; Department of Psychiatry, Yale School of Medicine, New Haven, CT, USA.
Woods SW; Department of Psychiatry, Yale School of Medicine, New Haven, CT, USA.
Scheinost D; Interdepartmental Neuroscience Program, Yale School of Medicine, New Haven, CT, USA.; Depatment of Radiology and Biomedical Imaging, Yale School of Medicine, New Haven, CT, USA.; Department of Biomedical Engineering, Yale School of Engineering and Applied Science, New Haven, CT, USA.; Department of Statistics and Data Science, Yale University, New Haven, CT, USA.; Child Study Center, Yale School of Medicine, New Haven, CT, USA.
Constable RT; Interdepartmental Neuroscience Program, Yale School of Medicine, New Haven, CT, USA. .; Depatment of Radiology and Biomedical Imaging, Yale School of Medicine, New Haven, CT, USA. .; Department of Biomedical Engineering, Yale School of Engineering and Applied Science, New Haven, CT, USA. .; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA. .
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Źródło:
Nature [Nature] 2022 Sep; Vol. 609 (7925), pp. 109-118. Date of Electronic Publication: 2022 Aug 24.
Typ publikacji:
Journal Article
MeSH Terms:
Brain*/anatomy & histology
Brain*/physiology
Computer Simulation*
Individuality*
Phenotype*
Stereotyping*
Datasets as Topic ; Humans ; Mental Status and Dementia Tests ; Models, Biological
Czasopismo naukowe
Tytuł:
Human genotype-to-phenotype predictions: Boosting accuracy with nonlinear models.
Autorzy:
Medvedev A; Skolkovo Institute of Science and Technology, Moscow, Russia.
Mishra Sharma S; Skolkovo Institute of Science and Technology, Moscow, Russia.
Tsatsorin E; Skolkovo Institute of Science and Technology, Moscow, Russia.
Nabieva E; Skolkovo Institute of Science and Technology, Moscow, Russia.
Yarotsky D; Skolkovo Institute of Science and Technology, Moscow, Russia.
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Źródło:
PloS one [PLoS One] 2022 Aug 31; Vol. 17 (8), pp. e0273293. Date of Electronic Publication: 2022 Aug 31 (Print Publication: 2022).
Typ publikacji:
Journal Article
MeSH Terms:
Genome-Wide Association Study*/methods
Genotype*
Phenotype*
Humans ; Models, Genetic ; Nonlinear Dynamics ; Polymorphism, Single Nucleotide
Czasopismo naukowe
Tytuł:
New approaches to the study of behavioural phenotypes.
Autorzy:
Naerland T; K.G. Jebsen Centre for Neurodevelopmental Disorders, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.; NevSom, Department of Rare Disorders and Disabilities, Oslo University Hospital, Oslo, Norway.
Nag HE; Frambu Resource Centre for Rare Disorders, Siggerud, Norway.
Dønnum MS; Department of Adult Habilitation, Akershus University Hospital, Lørenskog, Norway.
Høyland AL; Regional Centre for Child and Youth Mental Health and Child Welfare, Norwegian University of Science and Technology, Trondheim, Norway.; Department of Pediatrics, St. Olavs Hospital, Trondheim University Hospital, Trondheim, Norway.
Heussler HS; Child Development Program, Children's Health Queensland, South Brisbane, Queensland, Australia.; Centre for Children's Health Research, University of Queensland, Brisbane, Queensland, Australia.
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Źródło:
Journal of intellectual disability research : JIDR [J Intellect Disabil Res] 2022 Aug; Vol. 66 (8-9), pp. 667-668.
Typ publikacji:
Editorial
MeSH Terms:
Phenotype*
Humans
Opinia redakcyjna
Tytuł:
Integrated multi-omic characterization of congenital heart disease.
Autorzy:
Hill MC; Program in Developmental Biology, Baylor College of Medicine, Houston, TX, USA.; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.
Kadow ZA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX, USA.
Long H; Interdepartmental Program in Integrative Molecular and Biomedical Sciences, Baylor College of Medicine, Houston, TX, USA.
Morikawa Y; Texas Heart Institute, Houston, TX, USA.
Martin TJ; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA.
Birks EJ; Department of Physiology, University of Kentucky, Lexington, KY, USA.
Campbell KS; Department of Physiology, University of Kentucky, Lexington, KY, USA.; Division of Cardiovascular Medicine, University of Kentucky, Lexington, KY, USA.
Nerbonne J; Center for Cardiovascular Research, Departmental of Medicine, Cardiovascular Division, Washington University School of Medicine, St Louis, MO, USA.
Lavine K; Center for Cardiovascular Research, Departmental of Medicine, Cardiovascular Division, Washington University School of Medicine, St Louis, MO, USA.
Wadhwa L; Section of Cardiothoracic Surgery, Department of Surgery, Baylor College of Medicine, Houston, Texas, USA.
Wang J; Department of Pediatrics, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX, USA.
Turaga D; Section of Critical Care Medicine, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
Adachi I; Section of Cardiothoracic Surgery, Department of Surgery, Baylor College of Medicine, Houston, Texas, USA.
Martin JF; Program in Developmental Biology, Baylor College of Medicine, Houston, TX, USA. .; Interdepartmental Program in Integrative Molecular and Biomedical Sciences, Baylor College of Medicine, Houston, TX, USA. .; Texas Heart Institute, Houston, TX, USA. .; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA. .; Center for Organ Repair and Renewal, Baylor College of Medicine, Houston, TX, USA. .
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Źródło:
Nature [Nature] 2022 Aug; Vol. 608 (7921), pp. 181-191. Date of Electronic Publication: 2022 Jun 22.
Typ publikacji:
Journal Article
MeSH Terms:
Heart Defects, Congenital*/genetics
Heart Defects, Congenital*/immunology
Heart Defects, Congenital*/metabolism
Heart Defects, Congenital*/pathology
Phenotype*
Bone Morphogenetic Protein Receptors/metabolism ; Cardiomyopathy, Dilated/genetics ; Cardiomyopathy, Dilated/immunology ; Cardiomyopathy, Dilated/metabolism ; Cardiomyopathy, Dilated/pathology ; Cardiomyopathy, Hypertrophic/genetics ; Cardiomyopathy, Hypertrophic/immunology ; Cardiomyopathy, Hypertrophic/metabolism ; Cardiomyopathy, Hypertrophic/pathology ; Disease Progression ; Fibroblasts/metabolism ; Fibroblasts/pathology ; Forkhead Transcription Factors/metabolism ; Humans ; Hypoplastic Left Heart Syndrome/genetics ; Hypoplastic Left Heart Syndrome/immunology ; Hypoplastic Left Heart Syndrome/metabolism ; Hypoplastic Left Heart Syndrome/pathology ; Image Cytometry ; Insulin Resistance ; Monocytes/immunology ; Myocytes, Cardiac/metabolism ; Myocytes, Cardiac/pathology ; RNA-Seq ; Signal Transduction/genetics ; Single-Cell Analysis ; Tetralogy of Fallot/genetics ; Tetralogy of Fallot/immunology ; Tetralogy of Fallot/metabolism ; Tetralogy of Fallot/pathology ; YAP-Signaling Proteins/metabolism
Czasopismo naukowe
Tytuł:
Solving the grand challenge of phenotypic integration: allometry across scales.
Autorzy:
Vasseur F; CEFE, University Montpellier, CNRS, EPHE, IRD, Montpellier, France. .
Westgeest AJ; CEFE, University Montpellier, CNRS, EPHE, IRD, Montpellier, France.
Vile D; LEPSE, University Montpellier, INRAE, Institut Agro, Montpellier, France.
Violle C; CEFE, University Montpellier, CNRS, EPHE, IRD, Montpellier, France.
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Źródło:
Genetica [Genetica] 2022 Aug; Vol. 150 (3-4), pp. 161-169. Date of Electronic Publication: 2022 Jul 20.
Typ publikacji:
Journal Article
MeSH Terms:
Phenotype*
Body Size
Czasopismo naukowe
Tytuł:
Special issue on "The relationship between genotype and phenotype: new insight into an old question".
Autorzy:
de Vienne D; IDEEV / UMR Génétique Quantitative et Evolution - Le Moulon, Université Paris-Saclay - INRAE - CNRS - AgroParisTech, Gif-sur-Yvette, France. .
Capy P; IDEEV / UMR Evolution, Génomes, Comportement, Ecologie (EGCE), Université Paris-Saclay - CNRS - IRD, Gif-sur-Yvette, France.
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Źródło:
Genetica [Genetica] 2022 Aug; Vol. 150 (3-4), pp. 151. Date of Electronic Publication: 2022 Jul 25.
Typ publikacji:
Editorial; Comment
MeSH Terms:
Phenotype*
Genotype
Opinia redakcyjna
Tytuł:
In Silico Analysis of PORD Mutations on the 3D Structure of P450 Oxidoreductase.
Autorzy:
Nurhafizuddin M; PAPRSB Institute of Health Sciences, Universiti Brunei Darussalam, Jalan Tungku Link, Gadong BE1410, Brunei.
Azizi A; PAPRSB Institute of Health Sciences, Universiti Brunei Darussalam, Jalan Tungku Link, Gadong BE1410, Brunei.
Ming LC; PAPRSB Institute of Health Sciences, Universiti Brunei Darussalam, Jalan Tungku Link, Gadong BE1410, Brunei.
Shafqat N; PAPRSB Institute of Health Sciences, Universiti Brunei Darussalam, Jalan Tungku Link, Gadong BE1410, Brunei.
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Źródło:
Molecules (Basel, Switzerland) [Molecules] 2022 Jul 21; Vol. 27 (14). Date of Electronic Publication: 2022 Jul 21.
Typ publikacji:
Journal Article
MeSH Terms:
Antley-Bixler Syndrome Phenotype*/genetics
NADPH-Ferrihemoprotein Reductase*/genetics
Cytochrome P-450 Enzyme System/metabolism ; Humans ; Mutation ; Steroids
Czasopismo naukowe
Tytuł:
Network-Based Methods for Approaching Human Pathologies from a Phenotypic Point of View.
Autorzy:
Ranea JAG; Department of Molecular Biology and Biochemistry, University of Malaga, 29071 Malaga, Spain.; CIBER de Enfermedades Raras, Instituto de Salud Carlos III, 28029 Madrid, Spain.; Institute of Biomedical Research in Malaga (IBIMA), 29071 Malaga, Spain.; Spanish National Bioinformatics Institute (INB/ELIXIR-ES), Instituto de Salud Carlos III (ISCIII), 28020 Madrid, Spain.
Perkins J; Department of Molecular Biology and Biochemistry, University of Malaga, 29071 Malaga, Spain.; CIBER de Enfermedades Raras, Instituto de Salud Carlos III, 28029 Madrid, Spain.; Institute of Biomedical Research in Malaga (IBIMA), 29071 Malaga, Spain.; Spanish National Bioinformatics Institute (INB/ELIXIR-ES), Instituto de Salud Carlos III (ISCIII), 28020 Madrid, Spain.
Chagoyen M; Computational Systems Biology Group, Systems Biology Department, National Centre for Biotechnology (CNB-CSIC), 28049 Madrid, Spain.
Díaz-Santiago E; Department of Molecular Biology and Biochemistry, University of Malaga, 29071 Malaga, Spain.
Pazos F; Computational Systems Biology Group, Systems Biology Department, National Centre for Biotechnology (CNB-CSIC), 28049 Madrid, Spain.
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Źródło:
Genes [Genes (Basel)] 2022 Jun 17; Vol. 13 (6). Date of Electronic Publication: 2022 Jun 17.
Typ publikacji:
Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:
Phenotype*
Humans
Czasopismo naukowe
Tytuł:
The first adult case of cytochrome P450 oxidoreductase deficiency with sufficient semen volume and sperm concentration.
Autorzy:
Sato T; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Ishii T; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Fukami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Ogata T; Department of Pediatrics, Hamamatsu Medical Center, Hamamatsu, Japan.
Hasegawa T; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
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Źródło:
Congenital anomalies [Congenit Anom (Kyoto)] 2022 May; Vol. 62 (3), pp. 136-137. Date of Electronic Publication: 2022 Mar 25.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Antley-Bixler Syndrome Phenotype*
Adult ; Humans ; Male ; Semen ; Sperm Count ; Spermatozoa
Czasopismo naukowe
Tytuł:
IFN-γ and TNF Induce Senescence and a Distinct Senescence-Associated Secretory Phenotype in Melanoma.
Autorzy:
Homann L; Department of Dermatology, University of Tuebingen, 72076 Tuebingen, Germany.
Rentschler M; Department of Dermatology, University of Tuebingen, 72076 Tuebingen, Germany.; Institute of Physiology I, Department of Vegetative and Clinical Physiology, University of Tuebingen, 72074 Tuebingen, Germany.
Brenner E; Department of Dermatology, University of Tuebingen, 72076 Tuebingen, Germany.
Böhm K; Department of Dermatology, University of Tuebingen, 72076 Tuebingen, Germany.
Röcken M; Department of Dermatology, University of Tuebingen, 72076 Tuebingen, Germany.
Wieder T; Institute of Physiology I, Department of Vegetative and Clinical Physiology, University of Tuebingen, 72074 Tuebingen, Germany.
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Źródło:
Cells [Cells] 2022 Apr 30; Vol. 11 (9). Date of Electronic Publication: 2022 Apr 30.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Melanoma*/pathology
Senescence-Associated Secretory Phenotype*
Interferon-gamma/*metabolism
Tumor Necrosis Factor-alpha/*metabolism
CD8-Positive T-Lymphocytes/metabolism ; Cellular Senescence ; Humans
Czasopismo naukowe
Tytuł:
Loss of RNA binding protein HuD facilitates the production of the senescence-associated secretory phenotype.
Autorzy:
Ryu S; Department of Biomedicine & Health Sciences, The Catholic University of Korea, Seoul, 06591, South Korea.; Department of Biochemistry, The Catholic University of Korea, Seoul, 06591, South Korea.
Jung M; Department of Biomedicine & Health Sciences, The Catholic University of Korea, Seoul, 06591, South Korea.; Department of Biochemistry, The Catholic University of Korea, Seoul, 06591, South Korea.
Kim C; Department of Biochemistry, The Catholic University of Korea, Seoul, 06591, South Korea.; Catholic Institute for Visual Science, The Catholic University of Korea, Seoul, 06591, South Korea.
Kang H; Department of Biomedicine & Health Sciences, The Catholic University of Korea, Seoul, 06591, South Korea.
Han S; Department of Biomedicine & Health Sciences, The Catholic University of Korea, Seoul, 06591, South Korea.; Department of Biochemistry, The Catholic University of Korea, Seoul, 06591, South Korea.
Cha S; Department of Biomedicine & Health Sciences, The Catholic University of Korea, Seoul, 06591, South Korea.; Department of Biochemistry, The Catholic University of Korea, Seoul, 06591, South Korea.
Jeong SM; Department of Biomedicine & Health Sciences, The Catholic University of Korea, Seoul, 06591, South Korea.; Department of Biochemistry, The Catholic University of Korea, Seoul, 06591, South Korea.; Institute of Aging and Metabolic Diseases, College of Medicine, The Catholic University of Korea, Seoul, 06591, South Korea.
Lee EK; Department of Biomedicine & Health Sciences, The Catholic University of Korea, Seoul, 06591, South Korea. .; Department of Biochemistry, The Catholic University of Korea, Seoul, 06591, South Korea. .; Institute of Aging and Metabolic Diseases, College of Medicine, The Catholic University of Korea, Seoul, 06591, South Korea. .
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Źródło:
Cell death & disease [Cell Death Dis] 2022 Apr 11; Vol. 13 (4), pp. 329. Date of Electronic Publication: 2022 Apr 11.
Typ publikacji:
Journal Article
MeSH Terms:
Insulin-Secreting Cells*/metabolism
Senescence-Associated Secretory Phenotype*
ELAV-Like Protein 4/*metabolism
3' Untranslated Regions ; Animals ; Cellular Senescence/genetics ; Ligands ; Mice ; Mice, Knockout ; RNA-Binding Proteins/metabolism
Czasopismo naukowe
Tytuł:
Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A.
Autorzy:
Slavotinek A; Dept. Pediatrics, University of California San Francisco, San Francisco, CA, 94143, USA. Electronic address: .
Lefebvre M; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231, Génétique des Anomalies du Développement, Dijon, France.
Brehin AC; Department of Pathology, CHU Rouen, F-76000, Rouen, France.
Thauvin C; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231, Génétique des Anomalies du Développement, Dijon, France.
Patrier S; Department of Pathology, CHU Rouen, F-76000, Rouen, France.
Sparks TN; Department of Obstetrics, Gynecology, & Reproductive Sciences, University of California San Francisco, San Francisco, CA, 94143, USA.
Norton M; Department of Obstetrics, Gynecology, & Reproductive Sciences, University of California San Francisco, San Francisco, CA, 94143, USA.
Yu J; Dept. Cytogenetics, University of California San Francisco, San Francisco, CA, 94143, USA.
Huang E; Dept. Pathology, University of California San Francisco, San Francisco, CA, 94143, USA.
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Źródło:
European journal of medical genetics [Eur J Med Genet] 2022 Feb; Vol. 65 (2), pp. 104407. Date of Electronic Publication: 2021 Dec 20.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Phenotype*
Abnormalities, Multiple/*diagnosis
Aborted Fetus/*pathology
DNA-Binding Proteins/*genetics
Face/*abnormalities
Hand Deformities, Congenital/*diagnosis
Intellectual Disability/*diagnosis
Micrognathism/*diagnosis
Neck/*abnormalities
Transcription Factors/*genetics
Abnormalities, Multiple/genetics ; Adult ; Female ; Hand Deformities, Congenital/genetics ; Humans ; Intellectual Disability/genetics ; Micrognathism/genetics ; Mutation ; Pregnancy ; Prenatal Diagnosis
SCR Disease Name:
Coffin-Siris syndrome
Czasopismo naukowe

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