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Wyszukujesz frazę ""Protein-Serine-Threonine Kinases genetics"" wg kryterium: Temat


Tytuł :
Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis and intestinal inflammation
Autorzy :
Cuchet-Lourenço, Delphine
Eletto, Davide
Plagnol, Vincent
Papapietro, Olivier
Bacon, Chris M
Alsaleem, Badr
Maes, Mailis
Alisaac, Ali
Goss, Emma
AlIdrissi, Eman
Wajant, Harald
Kumararatne, Dinakantha
Arkwright, Peter D
Abinun, Mario
Doffinger, Rainer
Nejentsev, Sergey
Wu, Changxin
Curtis, James
Ceron-Gutierrez, Lourdes
Hackett, Scott
Gaspar, Miguel
Siegmund, Daniela
AlZahrani, Mofareh S
Pokaż więcej
Temat :
Inflammatory Bowel Diseases
Receptor-Interacting Protein Serine-Threonine Kinases
Lymphopenia/genetics
Receptor-Interacting Protein Serine-Threonine Kinases/genetics
b_open_article_in_toll_access_journal
Fibroblasts/metabolism
Arthritis/genetics
Severe Combined Immunodeficiency
Article
Pedigree
Severe Combined Immunodeficiency/genetics
Mitogen-Activated Protein Kinases/metabolism
Fibroblasts
Arthritis
Inflammatory Bowel Diseases/genetics
Mitogen-Activated Protein Kinases
Cytokines
Alleles, Arthritis, Cytokines, Female, Fibroblasts, Humans, Inflammatory Bowel Diseases, Lymphopenia, Male, Mitogen-Activated Protein Kinases, Pedigree, Receptor-Interacting Protein Serine-Threonine Kinases, Severe Combined Immunodeficiency
Cytokines/metabolism
Female
Humans
Lymphopenia
Male
Alleles
Źródło :
Science, 361(6404), 810 - 813. American Association for the Advancement of Science
Science, 361 (6404) pp. 810-813. (2018)
Cuchet-Lourenço, D, Eletto, D, Wu, C, Plagnot, V, Papapietro, O, Curtis, J, Ceron-Gutierrez, L, Bacon, C M, Hackett, S, Alsaleem, B, Maes, M, Gaspar, M, Alisaac, A, Goos, E, Alidrissi, E, Siegmund, D, Wajant, H, Kumararatne, D, AlZahrani, M S, Arkwright, P, Abinun, M, Doffinger, R & Nejentsev, S 2018, ' Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis and intestinal inflammation ', Science . https://doi.org/10.1126/science.aar2641
Opis pliku :
Print-Electronic; text; application/pdf
Tytuł :
Genetic determinants of glycated hemoglobin levels in the Greenlandic Inuit population
Autorzy :
Appel, Emil V.R.
Moltke, Ida
Jørgensen, Marit E.
Bjerregaard, Peter
Linneberg, Allan
Pedersen, Oluf
Albrechtsen, Anders
Hansen, Torben
Grarup, Niels
Pokaż więcej
Temat :
Ankyrins/genetics
Asian Continental Ancestry Group/genetics
Blood Glucose/genetics
Diabetes Mellitus, Type 2/blood
Ethnic Groups/genetics
European Continental Ancestry Group
Female
Genetic Association Studies
Genetic Predisposition to Disease
Genetic Variation
Genotype
Glycated Hemoglobin A/genetics
Greenland
Humans
Inuits/genetics
Male
Middle Aged
Protein-Serine-Threonine Kinases/genetics
Źródło :
Appel, E V R, Moltke, I, Jørgensen, M E, Bjerregaard, P, Linneberg, A, Pedersen, O, Albrechtsen, A, Hansen, T & Grarup, N 2018, ' Genetic determinants of glycated hemoglobin levels in the Greenlandic Inuit population ', European Journal of Human Genetics, vol. 26, no. 6, pp. 868-875 . https://doi.org/10.1038/s41431-018-0109-3
Tytuł :
Genome-wide association study of offspring birth weight in 86,577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics
Autorzy :
Beaumont, Robin N.
Warrington, Nicole M.
Cavadino, Alana
Tyrrell, Jessica
Nodzenski, Michael
Horikoshi, Momoko
Geller, Frank
Myhre, Ronny
Richmond, Rebecca C.
Paternoster, Lavinia
Bradfield, Jonathan P.
Kreiner-Moller, Eskil
Huikari, Ville
Metrustry, Sarah
Lunetta, Kathryn L.
Painter, Jodie N.
Hottenga, Jouke-Jan
Allard, Catherine
Barton, Sheila J.
Espinosa, Ana
Marsh, Julie A.
Potter, Catherine
Zhang, Ge
Ang, Wei
Berry, Diane J.
Bouchard, Luigi
Das, Shikta
Hakonarson, Hakon
Heikkinen, Jani
Helgeland, Oyvind
Hocher, Berthold
Hofman, Albert
Inskip, Hazel M.
Jones, Samuel E.
Kogevinas, Manolis
Lind, Penelope A.
Marullo, Letizia
Medland, Sarah E.
Murray, Anna
Murray, Jeffrey C.
Njolstad, Pal R.
Nohr, Ellen A.
Reichetzeder, Christoph
Ring, Susan M.
Ruth, Katherine S.
Santa-Marina, Loreto
Scholtens, Denise M.
Sebert, Sylvain
Sengpiel, Verena
Tuke, Marcus A.
Vaudel, Marc
Weedon, Michael N.
Willemsen, Gonneke
Wood, Andrew R.
Yaghootkar, Hanieh
Muglia, Louis J.
Bartels, Meike
Relton, Caroline L.
Pennell, Craig E.
Chatzi, Leda
Estivill, Xavier
Holloway, John W.
Boomsma, Dorret I.
Montgomery, Grant W.
Murabito, Joanne M.
Spector, Tim D.
Power, Christine
Jarvelin, Marjo-Ritta
Bisgaard, Hans
Grant, Struan F. A.
Sørensen, Thorkild I. A.
Jaddoe, Vincent W.
Jacobsson, Bo
Melbye, Mads
McCarthy, Mark I.
Hattersley, Andrew T.
Hayes, M. Geoffrey
Frayling, Timothy M.
Hivert, Marie-France
Felix, Janine F.
Hypponen, Elina
Lowe, William L., Jr.
Evans, David M.
Lawlor, Debbie A.
Feenstra, Bjarke
Freathy, Rachel M.
Pokaż więcej
Temat :
duration of gestation
offspring
Cytochrome P-450 CYP3A/genetics
single nucleotide polymorphism
HMGA2 Protein/genetics
Genome-Wide Association Study/methods
Research Support, Non-U.S. Gov't
Protein-Serine-Threonine Kinases/genetics
mothers
Transcription Factor 7-Like 2 Protein/genetics
Birth Weight/genetics
RISK LOCI
Infants nadons
Gestational Age
Receptor, Melatonin, MT2/genetics
Female
Newborn infants
COMMON VARIANTS
Alleles
Trans-Activators/genetics
Genetic Variation/genetics
Proteins/genetics
Actins/genetics
GLUCOKINASE GENE
Genotype
biobanks
FASTING GLUCOSE
BLOOD-PRESSURE
HEAD CIRCUMFERENCE
Polimorfisme genètic
fetus
Polymorphism, Single Nucleotide/genetics
GESTATIONAL DIABETES-MELLITUS
3111 Biomedicine
genetics
1184 Genetics, developmental biology, physiology
Kv1.3 Potassium Channel/genetics
1182 Biochemistry, cell and molecular biology
birth weight
METAANALYSIS
DISEASE
SUSCEPTIBILITY LOCI
DNA-Binding Proteins/genetics
Genetic polymorphisms
Research Support, N.I.H., Extramural
genome-wide association study
Journal Article
Humans
Źródło :
Beaumont, R N, Warrington, N M, Cavadino, A, Tyrrell, J, Nodzenski, M, Horikoshi, M, Geller, F, Myhre, R, Richmond, R C, Paternoster, L, Bradfield, J P, Kreiner-Moller, E, Huikari, V, Metrustry, S, Lunetta, K L, Painter, J N, Hottenga, J-J, Allard, C, Barton, S J, Espinosa, A, Marsh, J A, Potter, C, Zhang, G, Ang, W, Berry, D J, Bouchard, L, Das, S, Hakonarson, H, Heikkinen, J, Helgeland, O, Hocher, B, Hofman, A, Inskip, H M, Jones, S E, Kogevinas, M, Lind, P A, Marullo, L, Medland, S E, Murray, A, Murray, J C, Njolstad, P R, Nohr, E A, Reichetzeder, C, Ring, S M, Ruth, K S, Santa-Marina, L, Scholtens, D M, Sebert, S, Sengpiel, V, Tuke, M A, Vaudel, M, Weedon, M N, Willemsen, G, Wood, A R, Yaghootkar, H, Muglia, L J, Bartels, M, Relton, C L, Pennell, C E, Chatzi, L, Estivill, X, Holloway, J W, Boomsma, D I, Montgomery, G W, Murabito, J M, Spector, T D, Power, C, Jarvelin, M-R, Bisgaard, H, Grant, S F A, Sørensen, T I A, Jaddoe, V W, Jacobsson, B, Melbye, M, McCarthy, M I, Hattersley, A T, Hayes, M G, Frayling, T M, Hivert, M-F, Felix, J F, Hypponen, E, Lowe, W L J, Evans, D M, Lawlor, D A, Feenstra, B & Freathy, R M 2018, ' Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics ', Human Molecular Genetics, vol. 27, no. 4, pp. 742-756 . https://doi.org/10.1093/hmg/ddx429
Beaumont, R N, Warrington, N M, Cavadino, A, Tyrrell, J, Nodzenski, M, Horikoshi, M, Geller, F, Myhre, R, Richmond, R C, Paternoster, L, Bradfield, J P, Kreiner-Møller, E, Huikari, V, Metrustry, S, Lunetta, K L, Painter, J N, Hottenga, J J, Allard, C, Barton, S J, Espinosa, A, Marsh, J A, Potter, C, Zhang, G, Ang, W, Berry, D J, Bouchard, L, Das, S, Hakonarson, H, Heikkinen, J, Helgeland, Ø, Hocher, B, Hofman, A, Inskip, H M, Jones, S E, Kogevinas, M, Lind, P A, Marullo, L, Medland, S E, Murray, A, Murray, J C, Njølstad, P L R, Nohr, E A, Reichetzeder, C, Ring, S M, Ruth, K S, Relton, C L, Sørensen, T I A, Evans, D M, Lawlor, D A, Freathy, R M 2018, ' Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics ', Human Molecular Genetics, vol. 27, no. 4, ddx429, pp. 742-756 . https://doi.org/10.1093/hmg/ddx429
Beaumont, R N, Warrington, N M, Cavadino, A, Tyrrell, J, Nodzenski, M, Horikoshi, M, Geller, F, Myhre, R, Richmond, R C, Paternoster, L, Bradfield, J P, Kreiner-Møller, E, Huikari, V, Metrustry, S, Lunetta, K L, Painter, J N, Hottenga, J-J, Allard, C, Barton, S J, Espinosa, A, Marsh, J A, Potter, C, Zhang, G, Ang, W, Berry, D J, Bouchard, L, Das, S, Hakonarson, H, Heikkinen, J, Helgeland, Ø, Hocher, B, Hofman, A, Inskip, H M, Jones, S E, Kogevinas, M, Lind, P A, Marullo, L, Medland, S E, Murray, A, Murray, J C, Njølstad, P R, Nohr, E A, Reichetzeder, C, Ring, S M, Ruth, K S, Santa-Marina, L, Scholtens, D M, Sebert, S, Sengpiel, V, Tuke, M A & Early Growth Genetics (EGG) Consortium 2018, ' Genome-wide association study of offspring birth weight in 86,577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics ', Human Molecular Genetics, vol. 27, no. 4, pp. 742–756 . https://doi.org/10.1093/hmg/ddx429
Opis pliku :
application/pdf; text; spreadsheet; image
Tytuł :
Impairment of both IRE1 expression and XBP1 activation is a hallmark of GCB DLBCL and contributes to tumor growth.
Autorzy :
Bujisic, B.
De Gassart, A.
Tallant, R.
Demaria, O.
Zaffalon, L.
Chelbi, S.
Gilliet, M.
Bertoni, F.
Martinon, F.
Pokaż więcej
Temat :
hemic and lymphatic diseases
Animals
B-Lymphocytes/immunology
B-Lymphocytes/pathology
Cell Differentiation
Cell Line, Tumor
Cell Proliferation
Endoribonucleases/antagonists & inhibitors
Endoribonucleases/genetics
Endoribonucleases/immunology
Enhancer of Zeste Homolog 2 Protein/antagonists & inhibitors
Enhancer of Zeste Homolog 2 Protein/genetics
Enhancer of Zeste Homolog 2 Protein/immunology
Epigenesis, Genetic
Gene Expression Regulation, Neoplastic
Germinal Center/immunology
Germinal Center/pathology
Histones/genetics
Histones/immunology
Humans
Indazoles/pharmacology
Leupeptins/pharmacology
Lymphoma, Large B-Cell, Diffuse/genetics
Lymphoma, Large B-Cell, Diffuse/immunology
Lymphoma, Large B-Cell, Diffuse/pathology
Lymphoma, Large B-Cell, Diffuse/therapy
Mice
Mice, 129 Strain
Plasma Cells/immunology
Plasma Cells/pathology
Promoter Regions, Genetic
Protein-Serine-Threonine Kinases/antagonists & inhibitors
Protein-Serine-Threonine Kinases/genetics
Protein-Serine-Threonine Kinases/immunology
Pyridones/pharmacology
RNA, Messenger/antagonists & inhibitors
RNA, Messenger/genetics
RNA, Messenger/immunology
Signal Transduction
X-Box Binding Protein 1/antagonists & inhibitors
X-Box Binding Protein 1/genetics
X-Box Binding Protein 1/immunology
Xenograft Model Antitumor Assays
Źródło :
Blood, vol. 129, no. 17, pp. 2420-2428
Opis pliku :
application/pdf
Tytuł :
Precision medicine for monogenic diabetes: from a survey to the development of a next-generation diagnostic panel
Autorzy :
Kherra, Sakina
Blouin, Jean-Louis
Santoni, Federico
Schwitzgebel Luscher, Valérie
Pokaż więcej
Temat :
ddc:576.5
ddc:618
Diabetes Mellitus/diagnosis/genetics
Genetic Testing/methods
Humans
Mutation
Precision Medicine
Protein-Serine-Threonine Kinases/genetics
Surveys and Questionnaires
Źródło :
Swiss Medical Weekly, Vol. 147 (2017) P. w14535

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