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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 :
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 :
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 :
Maize plant architecture trait QTL mapping and candidate gene identification based on multiple environments and double populations.
Autorzy :
Fei J; College of Bioscience, Jilin Agricultural University, Changchun, 130118, China.
Lu J; College of Bioscience, Jilin Agricultural University, Changchun, 130118, China.
Jiang Q; College of Bioscience, Jilin Agricultural University, Changchun, 130118, China.
Liu Z; College of Bioscience, Jilin Agricultural University, Changchun, 130118, China.
Yao D; College of Bioscience, Jilin Agricultural University, Changchun, 130118, China.
Qu J; College of Agriculture, Jilin Agricultural University, Changchun, 130118, China.
Liu S; College of Agriculture, Jilin Agricultural University, Changchun, 130118, China.
Guan S; College of Agriculture, Jilin Agricultural University, Changchun, 130118, China. .
Ma Y; College of Agriculture, Jilin Agricultural University, Changchun, 130118, China.
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Źródło :
BMC plant biology [BMC Plant Biol] 2022 Mar 11; Vol. 22 (1), pp. 110. Date of Electronic Publication: 2022 Mar 11.
Typ publikacji :
Comparative Study; Journal Article
MeSH Terms :
Chromosome Mapping*
Genetic Association Studies*
Phenotype*
Quantitative Trait Loci*
Zea mays/*anatomy & histology
Zea mays/*genetics
Crops, Agricultural/anatomy & histology ; Crops, Agricultural/genetics ; Gene Expression Regulation, Plant ; Genes, Plant ; Genetic Variation ; Genotype
Czasopismo naukowe
Tytuł :
Association of antimüllerian hormone with polycystic ovarian syndrome phenotypes and pregnancy outcomes of in vitro fertilization cycles with fresh embryo transfer.
Autorzy :
Liu S; Shenzhen Key Laboratory of Reproductive Immunology for Peri-Implantation, Shenzhen Zhongshan Institute for Reproduction and Genetics, Fertility Center, Shenzhen Zhongshan Urology Hospital, Shenzhen, PR China.
Hong L; Shenzhen Key Laboratory of Reproductive Immunology for Peri-Implantation, Shenzhen Zhongshan Institute for Reproduction and Genetics, Fertility Center, Shenzhen Zhongshan Urology Hospital, Shenzhen, PR China.
Mo M; Shenzhen Key Laboratory of Reproductive Immunology for Peri-Implantation, Shenzhen Zhongshan Institute for Reproduction and Genetics, Fertility Center, Shenzhen Zhongshan Urology Hospital, Shenzhen, PR China.
Xiao S; Shenzhen Key Laboratory of Reproductive Immunology for Peri-Implantation, Shenzhen Zhongshan Institute for Reproduction and Genetics, Fertility Center, Shenzhen Zhongshan Urology Hospital, Shenzhen, PR China.
Wang X; Shenzhen Key Laboratory of Reproductive Immunology for Peri-Implantation, Shenzhen Zhongshan Institute for Reproduction and Genetics, Fertility Center, Shenzhen Zhongshan Urology Hospital, Shenzhen, PR China.
Fan X; Shenzhen Key Laboratory of Reproductive Immunology for Peri-Implantation, Shenzhen Zhongshan Institute for Reproduction and Genetics, Fertility Center, Shenzhen Zhongshan Urology Hospital, Shenzhen, PR China.
Zhang S; Reproductive Medical Center, Renmin Hospital of Wuhan University & Hubei Clinic Research Center for Assisted Reproductive Technology and Embryonic Development, Wuhan, PR China.
Diao L; Shenzhen Key Laboratory of Reproductive Immunology for Peri-Implantation, Shenzhen Zhongshan Institute for Reproduction and Genetics, Fertility Center, Shenzhen Zhongshan Urology Hospital, Shenzhen, PR China.
Zeng Y; Shenzhen Key Laboratory of Reproductive Immunology for Peri-Implantation, Shenzhen Zhongshan Institute for Reproduction and Genetics, Fertility Center, Shenzhen Zhongshan Urology Hospital, Shenzhen, PR China. .
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Źródło :
BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2022 Mar 02; Vol. 22 (1), pp. 171. Date of Electronic Publication: 2022 Mar 02.
Typ publikacji :
Journal Article
MeSH Terms :
Phenotype*
Pregnancy Outcome*
Pregnancy Rate*
Anti-Mullerian Hormone/*analysis
Anti-Mullerian Hormone/*blood
Polycystic Ovary Syndrome/*blood
Adult ; Embryo Transfer ; Female ; Fertilization in Vitro/methods ; Humans ; Infertility, Female/therapy ; Pregnancy ; Retrospective Studies
Czasopismo naukowe
Tytuł :
Limits to the evolution of dispersal kernels under rapid fragmentation.
Autorzy :
Greenbaum G; Department of Evolution, Ecology, and Behavior, The Hebrew University of Jerusalem, Jerusalem 9190401, Israel.
Dener E; Albert Katz International School for Desert Studies, Jacob Blaustein Institutes for Desert Research, Ben Gurion University of the Negev, Sede Boqer Campus, Midreshet Ben-Gurion, Israel.; Mitrani Department of Desert Ecology, Swiss Institute for Dryland Environmental and Energy Research, Jacob Blaustein Institutes for Desert Research, Ben-Gurion University of the Negev, Midreshet Ben-Gurion 8499000, Israel.
Giladi I; Mitrani Department of Desert Ecology, Swiss Institute for Dryland Environmental and Energy Research, Jacob Blaustein Institutes for Desert Research, Ben-Gurion University of the Negev, Midreshet Ben-Gurion 8499000, Israel.
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Źródło :
Journal of the Royal Society, Interface [J R Soc Interface] 2022 Mar; Vol. 19 (188), pp. 20210696. Date of Electronic Publication: 2022 Mar 23.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Phenotype*
Czasopismo naukowe
Tytuł :
Drosophila carrying epilepsy-associated variants in the vitamin B6 metabolism gene PNPO display allele- and diet-dependent phenotypes.
Autorzy :
Chi W; Committee on Genetics, Genomics and Systems Biology, University of Chicago, Chicago, IL 60637.; Department of Neurobiology, University of Chicago, Chicago, IL 60637.
Iyengar ASR; Department of Biology, College of Liberal Arts and Sciences, University of Iowa, Iowa City, IA 52242.; Iowa Neuroscience Institute, University of Iowa, Iowa City, IA 52242.
Fu W; Department of Neurobiology, University of Chicago, Chicago, IL 60637.
Liu W; Department of Environmental Health, School of Public Health, China Medical University, Shenyang 110122, China.
Berg AE; Department of Biology, College of Liberal Arts and Sciences, University of Iowa, Iowa City, IA 52242.
Wu CF; Department of Biology, College of Liberal Arts and Sciences, University of Iowa, Iowa City, IA 52242; .; Iowa Neuroscience Institute, University of Iowa, Iowa City, IA 52242.
Zhuang X; Committee on Genetics, Genomics and Systems Biology, University of Chicago, Chicago, IL 60637; .; Department of Neurobiology, University of Chicago, Chicago, IL 60637.; Grossman Institute for Neuroscience, Quantitative Biology and Human Behavior, University of Chicago, Chicago, IL 60637.
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Źródło :
Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2022 Mar 01; Vol. 119 (9).
Typ publikacji :
Journal Article
MeSH Terms :
Alleles*
Diet*
Phenotype*
Epilepsy/*genetics
Pyridoxaminephosphate Oxidase/*genetics
Vitamin B 6/*metabolism
Amino Acid Sequence ; Animals ; Drosophila melanogaster ; Humans ; Pyridoxaminephosphate Oxidase/chemistry ; Sequence Homology, Amino Acid
Czasopismo naukowe
Tytuł :
Hypoxia induces radioresistance, epithelial‑mesenchymal transition, cancer stem cell‑like phenotype and changes in genes possessing multiple biological functions in head and neck squamous cell carcinoma.
Autorzy :
Wiechec E; Department of Biomedical and Clinical Sciences, Division of Cell Biology, Linköping University, 58185 Linköping, Sweden.
Matic N; Department of Otorhinolaryngology in Linköping, Anaesthetics, Operations and Specialty Surgery Center, Region Östergötland, 58185 Linköping, Sweden.
Ali A; National Bioinformatics Infrastructure Sweden, Science for Life Laboratory; Department of Immune Technology, Lund University, 22100 Lund, Sweden.
Roberg K; Department of Biomedical and Clinical Sciences, Division of Cell Biology, Linköping University, 58185 Linköping, Sweden.
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Źródło :
Oncology reports [Oncol Rep] 2022 Mar; Vol. 47 (3). Date of Electronic Publication: 2022 Jan 21.
Typ publikacji :
Journal Article
MeSH Terms :
Phenotype*
Cell Hypoxia/*genetics
Epithelial-Mesenchymal Transition/*genetics
Neoplastic Stem Cells/*pathology
Squamous Cell Carcinoma of Head and Neck/*genetics
Squamous Cell Carcinoma of Head and Neck/*radiotherapy
Down-Regulation ; Gene Expression Regulation, Neoplastic ; Humans
Czasopismo naukowe
Tytuł :
Clinical profile of fatal familial insomnia: phenotypic variation in 129 polymorphisms and geographical regions.
Autorzy :
Zhang J; Department of Neurology, Xuanwu hospital,Capital Medical University, Beijing, People's Republic of China.
Chu M; Department of Neurology, Xuanwu hospital,Capital Medical University, Beijing, People's Republic of China.
Tian Z; Department of Biology, Carleton College, Northfield, Minnesota, USA.
Xie K; Department of Neurology, Xuanwu hospital,Capital Medical University, Beijing, People's Republic of China.
Cui Y; Department of Neurology, Xuanwu hospital,Capital Medical University, Beijing, People's Republic of China.
Liu L; Department of Neurology, Xuanwu hospital,Capital Medical University, Beijing, People's Republic of China.
Meng J; Department of Neurology, Xuanwu hospital,Capital Medical University, Beijing, People's Republic of China.
Yan H; Department of Neurology, Xuanwu hospital,Capital Medical University, Beijing, People's Republic of China.
Ji YM; Department of Neurology, Xuanwu hospital,Capital Medical University, Beijing, People's Republic of China.
Jiang Z; Department of Neurology, Xuanwu hospital,Capital Medical University, Beijing, People's Republic of China.
Xia TX; Department of Neurology, Xuanwu hospital,Capital Medical University, Beijing, People's Republic of China.
Wang D; Department of Neurology, Xuanwu hospital,Capital Medical University, Beijing, People's Republic of China.; Department of Neurology, Shijiazhuang People's Hospital, Shijiazhuang, People's Republic of China.
Wang X; Department of Neurology, Xuanwu hospital,Capital Medical University, Beijing, People's Republic of China.; Department of Neurology, Beijing Huairou Hospital of Traditional Chinese Medicine, Beijing, People's Republic of China.
Zhao Y; Department of Neurology, Xuanwu hospital,Capital Medical University, Beijing, People's Republic of China.; Department of Neurology, Jilin Neuropsychiatric Hospital, Jilin, People's Republic of China.
Ye H; Department of Neurology, Xuanwu hospital,Capital Medical University, Beijing, People's Republic of China.
Li J; Department of Neurology, Xuanwu hospital,Capital Medical University, Beijing, People's Republic of China.
Wang L; Department of Neurology, Xuanwu hospital,Capital Medical University, Beijing, People's Republic of China.
Wu L; Department of Neurology, Xuanwu hospital,Capital Medical University, Beijing, People's Republic of China .
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Źródło :
Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2022 Mar; Vol. 93 (3), pp. 291-297. Date of Electronic Publication: 2021 Oct 19.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genotype*
Phenotype*
Polymorphism, Single Nucleotide*
Insomnia, Fatal Familial/*genetics
Prion Proteins/*genetics
Adolescent ; Adult ; Aged ; Female ; Humans ; Male ; Middle Aged ; Mutation ; Young Adult
Czasopismo naukowe
Tytuł :
Rat Models of Human Diseases and Related Phenotypes: A Novel Inventory of Causative Genes.
Autorzy :
Szpirer C; Université Libre de Bruxelles, B-6041, Gosselies, Belgium. .; Avenue Jassogne, 27, B-1410, Waterloo, Belgium. .
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Źródło :
Mammalian genome : official journal of the International Mammalian Genome Society [Mamm Genome] 2022 Mar; Vol. 33 (1), pp. 88-90. Date of Electronic Publication: 2021 Jun 28.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Disease Models, Animal*
Phenotype*
Animals ; Humans ; Rats
Czasopismo naukowe
Tytuł :
Machine Learning Identifies Digital Phenotyping Measures Most Relevant to Negative Symptoms in Psychotic Disorders: Implications for Clinical Trials.
Autorzy :
Narkhede SM; Department of Psychology, University of Georgia, Athens, GA, USA.
Luther L; Department of Psychology, University of Georgia, Athens, GA, USA.
Raugh IM; Department of Psychology, University of Georgia, Athens, GA, USA.
Knippenberg AR; Department of Psychology, University of Georgia, Athens, GA, USA.
Esfahlani FZ; Department of Psychology, Indiana University, Bloomington, IN, USA.
Sayama H; Department of Systems Science and Industrial Engineering, Binghamton University, Binghamton, NY, USA.
Cohen AS; Department of Psychology, Louisiana State University, Baton Rouge, LA, USA.
Kirkpatrick B; Department of Psychiatry, University of Nevada, Reno School of Medicine, Reno, NV, USA.
Strauss GP; Department of Psychology, University of Georgia, Athens, GA, USA.
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Źródło :
Schizophrenia bulletin [Schizophr Bull] 2022 Mar 01; Vol. 48 (2), pp. 425-436.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Phenotype*
Machine Learning/*trends
Psychotic Disorders/*therapy
Weights and Measures/*instrumentation
Adult ; Female ; Humans ; Machine Learning/standards ; Male ; Middle Aged ; Psychotic Disorders/psychology ; Weights and Measures/standards
Czasopismo naukowe
Tytuł :
Association between WWOX/MAF variants and dementia-related neuropathologic endophenotypes.
Autorzy :
Dugan AJ; Department of Biostatistics, College of Public Health, University of Kentucky, Lexington, KY, USA.
Nelson PT; Sanders-Brown Center on Aging and Alzheimer's Disease Research Center, University of Kentucky, Lexington, KY, USA; Pathology and Laboratory Medicine, University of Kentucky, Lexington, KY, USA.
Katsumata Y; Department of Biostatistics, College of Public Health, University of Kentucky, Lexington, KY, USA; Sanders-Brown Center on Aging and Alzheimer's Disease Research Center, University of Kentucky, Lexington, KY, USA.
Shade LMP; Department of Biostatistics, College of Public Health, University of Kentucky, Lexington, KY, USA.
Teylan MA; National Alzheimer's Coordinating Center, Department of Epidemiology, University of Washington, Seattle, WA, USA.
Boehme KL; Department of Biology, Brigham Young University, Provo, UT, USA.
Mukherjee S; Department of Medicine, University of Washington, Seattle, WA, USA.
Kauwe JSK; Department of Biology, Brigham Young University, Provo, UT, USA; Department of Medicine, University of Washington, Seattle, WA, USA.
Hohman TJ; Vanderbilt Memory & Alzheimer's Center, Department of Neurology, Vanderbilt University Medical Center, Nashville, TN, USA.
Schneider JA; Departments of Neurology and Pathology, Rush University Medical Center, Chicago, IL, USA.
Fardo DW; Department of Biostatistics, College of Public Health, University of Kentucky, Lexington, KY, USA; Sanders-Brown Center on Aging and Alzheimer's Disease Research Center, University of Kentucky, Lexington, KY, USA. Electronic address: .
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Corporate Authors :
Alzheimer's Disease Genetics Consortium
Źródło :
Neurobiology of aging [Neurobiol Aging] 2022 Mar; Vol. 111, pp. 95-106. Date of Electronic Publication: 2021 Oct 29.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Phenotype*
Alzheimer Disease/*genetics
Dementia/*genetics
Genetic Variation/*genetics
Genome-Wide Association Study/*methods
Proto-Oncogene Proteins c-maf/*genetics
TDP-43 Proteinopathies/*genetics
Tumor Suppressor Proteins/*genetics
WW Domain-Containing Oxidoreductase/*genetics
Aged ; Aged, 80 and over ; Female ; Humans ; Male
Czasopismo naukowe
Tytuł :
Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases.
Autorzy :
Mary L; Service de Cytogénétique et Biologie Cellulaire, CHU Rennes, Rennes, France; INSERM, EHESP, IRSET - UMR_S, 1085, Université Rennes 1, Rennes, France. Electronic address: .
Lavillaureix A; Service de Génétique Clinique, CHU Rennes, CLAD Ouest, Rennes, France; ERN ITHACA, Hôpital Sud Rennes France, Université de Rennes, CNRS, IGDR, UMR 6290, F-35000, Rennes, France.
Perrot A; Service de Cytogénétique et Biologie Cellulaire, CHU Rennes, Rennes, France.
Loget P; Service d'Anatomie Pathologique, Hôpital Pontchaillou, CHU Rennes, Rennes, France.
Launay E; Service de Cytogénétique et Biologie Cellulaire, CHU Rennes, Rennes, France.
Leborgne AS; Service de Cardiologie, Clinique de La Sagesse, Rennes, France.
Demurger F; Service de Génétique Médicale, CHBA Vannes, France.
Fradin M; Service de Génétique Clinique, CHU Rennes, CLAD Ouest, Rennes, France.
Le Bouar G; Unité de Médecine fœtale, Service de Gynécologie-Obstétrique, CHU Rennes, Rennes, France.
Quélin C; Service de Génétique Clinique, CHU Rennes, CLAD Ouest, Rennes, France; Service d'Anatomie Pathologique, Hôpital Pontchaillou, CHU Rennes, Rennes, France.
Dubourg C; Laboratoire de Génétique Moléculaire et Génomique, Centre Hospitalier Universitaire de Rennes, Rennes, 35033, France.
Pasquier L; Service de Génétique Clinique, CHU Rennes, CLAD Ouest, Rennes, France; ERN ITHACA, Hôpital Sud Rennes France, Université de Rennes, CNRS, IGDR, UMR 6290, F-35000, Rennes, France.
Odent S; Service de Génétique Clinique, CHU Rennes, CLAD Ouest, Rennes, France; ERN ITHACA, Hôpital Sud Rennes France, Université de Rennes, CNRS, IGDR, UMR 6290, F-35000, Rennes, France.
Belaud-Rotureau MA; Service de Cytogénétique et Biologie Cellulaire, CHU Rennes, Rennes, France; INSERM, EHESP, IRSET - UMR_S, 1085, Université Rennes 1, Rennes, France.
Jaillard S; Service de Cytogénétique et Biologie Cellulaire, CHU Rennes, Rennes, France; INSERM, EHESP, IRSET - UMR_S, 1085, Université Rennes 1, Rennes, France.
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2022 Feb; Vol. 65 (2), pp. 104422. Date of Electronic Publication: 2022 Jan 10.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Phenotype*
Abnormalities, Multiple/*genetics
Chromosome Duplication/*genetics
DiGeorge Syndrome/*genetics
Fetus/*pathology
Abnormalities, Multiple/pathology ; Adaptor Proteins, Signal Transducing/genetics ; Chromosomes, Human, Pair 22/genetics ; DiGeorge Syndrome/pathology ; Female ; Humans ; Infant, Newborn ; Male ; Phosphoproteins/genetics
SCR Disease Name :
Chromosome 22q11.2 Microduplication Syndrome
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
Tytuł :
Ovarian Cancer Cells in Ascites Form Aggregates That Display a Hybrid Epithelial-Mesenchymal Phenotype and Allows Survival and Proliferation of Metastasizing Cells.
Autorzy :
Capellero S; Candiolo Cancer Institute, FPO-IRCCS, 10060 Candiolo, Italy.; Department of Oncology, University of Torino, 10129 Torino, Italy.
Erriquez J; Candiolo Cancer Institute, FPO-IRCCS, 10060 Candiolo, Italy.
Battistini C; Unit of Gynaecological Oncology Research, European Institute of Oncology, IRCCS, 20100 Milan, Italy.
Porporato R; Candiolo Cancer Institute, FPO-IRCCS, 10060 Candiolo, Italy.
Scotto G; Candiolo Cancer Institute, FPO-IRCCS, 10060 Candiolo, Italy.; Department of Oncology, University of Torino, 10129 Torino, Italy.
Borella F; Gynecology and Obstetrics 1, Department of Surgical Sciences, City of Health and Science, University of Turin, 10100 Turin, Italy.
Di Renzo MF; Candiolo Cancer Institute, FPO-IRCCS, 10060 Candiolo, Italy.; Department of Oncology, University of Torino, 10129 Torino, Italy.
Valabrega G; Candiolo Cancer Institute, FPO-IRCCS, 10060 Candiolo, Italy.; Department of Oncology, University of Torino, 10129 Torino, Italy.
Olivero M; Candiolo Cancer Institute, FPO-IRCCS, 10060 Candiolo, Italy.; Department of Oncology, University of Torino, 10129 Torino, Italy.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2022 Jan 13; Vol. 23 (2). Date of Electronic Publication: 2022 Jan 13.
Typ publikacji :
Journal Article
MeSH Terms :
Epithelial-Mesenchymal Transition*/genetics
Phenotype*
Ascites/*pathology
Ovarian Neoplasms/*pathology
Biomarkers, Tumor ; Cell Culture Techniques ; Cell Line, Tumor ; Cell Proliferation ; Cell Survival ; Female ; Fluorescent Antibody Technique ; Humans ; Immunohistochemistry ; In Situ Hybridization ; Neoplasm Metastasis ; Ovarian Neoplasms/metabolism ; Tumor Cells, Cultured
Czasopismo naukowe
Tytuł :
Pan-cancer analysis of prognostic metastatic phenotypes.
Autorzy :
Zaorsky NG; Department of Radiation Oncology, Penn State Cancer Institute, Hershey, Pennsylvania, USA.; Department of Public Health Sciences, Penn State College of Medicine, Hershey, Pennsylvania, USA.
Wang X; Department of Public Health Sciences, Penn State College of Medicine, Hershey, Pennsylvania, USA.
Garrett SM; Department of Radiation Oncology, Penn State Cancer Institute, Hershey, Pennsylvania, USA.; Department of Public Health Sciences, Penn State College of Medicine, Hershey, Pennsylvania, USA.
Lehrer EJ; Department of Radiation Oncology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Lin C; Department of Radiation Oncology, Penn State Cancer Institute, Hershey, Pennsylvania, USA.; Department of Public Health Sciences, Penn State College of Medicine, Hershey, Pennsylvania, USA.
DeGraff DJ; Division of Experimental Pathology, Department of Pathology and Laboratory Medicine, Penn State College of Medicine, Hershey, Pennsylvania, USA.
Spratt DE; Department of Radiation Oncology, University Hospitals Seidman Cancer Center, Case Western Reserve University, Cleveland, OH, USA.
Trifiletti DM; Department of Radiation Oncology, Mayo Clinic Jacksonville, Jacksonville, Florida, USA.
Kishan AU; Department of Radiation Oncology, University of California, Los Angeles, Los Angeles, California, USA.
Showalter TN; Department of Radiation Oncology, University of Virginia, Charlottesville, Virginia, USA.
Park HS; Department of Therapeutic Radiology, Yale School of Medicine, New Haven, Connecticut, USA.
Yang JT; Department of Radiation Oncology, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Chinchilli VM; Department of Public Health Sciences, Penn State College of Medicine, Hershey, Pennsylvania, USA.
Wang M; Department of Public Health Sciences, Penn State College of Medicine, Hershey, Pennsylvania, USA.
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Źródło :
International journal of cancer [Int J Cancer] 2022 Jan 01; Vol. 150 (1), pp. 132-141. Date of Electronic Publication: 2021 Aug 27.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Nomograms*
Phenotype*
Neoplasms/*pathology
Adult ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Neoplasm Metastasis ; Prognosis ; Survival Rate ; Young Adult
Czasopismo naukowe
Tytuł :
A Polymer Physics Model to Dissect Genome Organization in Healthy and Pathological Phenotypes.
Autorzy :
Conte M; Dipartimento di Fisica, Università di Napoli Federico II, and INFN Napoli, Complesso di Monte Sant'Angelo, Naples, Italy.
Fiorillo L; Dipartimento di Fisica, Università di Napoli Federico II, and INFN Napoli, Complesso di Monte Sant'Angelo, Naples, Italy.
Bianco S; Dipartimento di Fisica, Università di Napoli Federico II, and INFN Napoli, Complesso di Monte Sant'Angelo, Naples, Italy.
Chiariello AM; Dipartimento di Fisica, Università di Napoli Federico II, and INFN Napoli, Complesso di Monte Sant'Angelo, Naples, Italy.
Esposito A; Dipartimento di Fisica, Università di Napoli Federico II, and INFN Napoli, Complesso di Monte Sant'Angelo, Naples, Italy.
Musella F; Dipartimento di Fisica, Università di Napoli Federico II, and INFN Napoli, Complesso di Monte Sant'Angelo, Naples, Italy.
Flora F; Dipartimento di Fisica, Università di Napoli Federico II, and INFN Napoli, Complesso di Monte Sant'Angelo, Naples, Italy.
Abraham A; Dipartimento di Fisica, Università di Napoli Federico II, and INFN Napoli, Complesso di Monte Sant'Angelo, Naples, Italy.
Nicodemi M; Dipartimento di Fisica, Università di Napoli Federico II, and INFN Napoli, Complesso di Monte Sant'Angelo, Naples, Italy. .; Berlin Institute of Health (BIH), MDC-Berlin, Berlin, Germany. .
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Źródło :
Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2022; Vol. 2301, pp. 307-316.
Typ publikacji :
Journal Article
MeSH Terms :
Chromatin*/genetics
Phenotype*
Animals ; Chromosomes ; Humans ; Mice ; Physics ; Polymers
Czasopismo naukowe
Tytuł :
Mechanisms and Regulation of Cellular Senescence.
Autorzy :
Roger L; Structure and Instability of Genomes Laboratory, Muséum National d'Histoire Naturelle (MNHN), CNRS-UMR 7196/INSERM U1154, 43 Rue Cuvier, 75005 Paris, France.
Tomas F; Centre de Recherche en Biologie cellulaire de Montpellier (CRBM), Université de Montpellier, CNRS UMR 5237, 1919 Route de Mende, 34293 Montpellier, France.
Gire V; Centre de Recherche en Biologie cellulaire de Montpellier (CRBM), Université de Montpellier, CNRS UMR 5237, 1919 Route de Mende, 34293 Montpellier, France.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Dec 06; Vol. 22 (23). Date of Electronic Publication: 2021 Dec 06.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Aging*
Cellular Senescence*
DNA Damage*
Senescence-Associated Secretory Phenotype*
Inflammation/*pathology
Animals ; Humans ; Inflammation/etiology ; Signal Transduction
Czasopismo naukowe
Tytuł :
Nicotinate-curcumin inhibits AngII-induced vascular smooth muscle cell phenotype switching by upregulating Daxx expression.
Autorzy :
Sun SY; School of Pharmacy, Hunan University of Chinese Medicine, Changsha, China.; The Cardiovascular Research Center, The First Affiliated Hospital of Xinxiang Medical University, Xinxiang, Henan, China.
Cao YM; School of Pharmacy, Hunan University of Chinese Medicine, Changsha, China.
Huo YJ; School of Pharmacy, Hunan University of Chinese Medicine, Changsha, China.
Qiu F; School of Pharmacy, Hunan University of Chinese Medicine, Changsha, China.; Department of pharmacy, The First Affiliated Hospital of Hunan University of Medicine, Huaihua, Hunan, China.
Quan WJ; School of Pharmacy, Hunan University of Chinese Medicine, Changsha, China.
He CP; School of Pharmacy, Hunan University of Chinese Medicine, Changsha, China.
Chen Y; School of Pharmacy, Hunan University of Chinese Medicine, Changsha, China.
Liao DF; School of Pharmacy, Hunan University of Chinese Medicine, Changsha, China.
Tuo QH; School of Pharmacy, Hunan University of Chinese Medicine, Changsha, China.; School of Medicine, Hunan University of Chinese Medicine, Changsha, China.
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Źródło :
Cell adhesion & migration [Cell Adh Migr] 2021 Dec; Vol. 15 (1), pp. 116-125.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Phenotype*
Co-Repressor Proteins/*metabolism
Curcumin/*analogs & derivatives
Molecular Chaperones/*metabolism
Muscle, Smooth, Vascular/*drug effects
Myocytes, Smooth Muscle/*drug effects
Niacin/*analogs & derivatives
Atherosclerosis/prevention & control ; Cell Movement/drug effects ; Cell Proliferation/drug effects ; Cells, Cultured ; Curcumin/chemistry ; Curcumin/pharmacology ; Humans ; Muscle, Smooth, Vascular/metabolism ; Muscle, Smooth, Vascular/pathology ; Myocytes, Smooth Muscle/metabolism ; Myocytes, Smooth Muscle/pathology ; Niacin/chemistry ; Niacin/pharmacology ; PTEN Phosphohydrolase/metabolism ; Proto-Oncogene Proteins c-akt/metabolism ; Signal Transduction/drug effects ; Up-Regulation
Czasopismo naukowe

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