المؤلفون: Katerina Theodoropoulou, Lotte Spel, Léa Zaffalon, Maeva Delacrétaz, Michaël Hofer, Fabio Martinon

المصدر: The Journal of allergy and clinical immunology, vol. 151, no. 1, pp. 222-232.e9

مصطلحات موضوعية: Humans, Inflammasomes/metabolism, Cryopyrin-Associated Periodic Syndromes/genetics, NLR Family, Pyrin Domain-Containing 3 Protein/genetics, NLR Family, Pyrin Domain-Containing 3 Protein/metabolism, Leucine/genetics, Gain of Function Mutation, CAPS, Inflammasome, LRR, NLRP3, alternative splicing, autoinflammatory disease, cryopyrin, cryopyrinopathies, Immunology, Immunology and Allergy

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ccbeebab201e78759195033e93d6806
https://pubmed.ncbi.nlm.nih.gov/36075321

المؤلفون: Michel Guipponi, Caroline Stekelenburg, Mariarosaria Lang-Muritano, Karine Gerster, Jean-Louis Blouin, Federico Santoni, Valerie M. Schwitzgebel

المساهمون: University of Zurich, Schwitzgebel, Valerie M

المصدر: Pediatric Diabetes, Vol. 20, No 3 (2019) pp. 366-369

مصطلحات موضوعية: Models, Molecular, Male, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Bioinformatics, Pediatrics, Whole Exome Sequencing, Diabetes mellitus genetics, Endocrinology, 0302 clinical medicine, Models, Medicine, Missense mutation, ddc:576.5, 030212 general & internal medicine, Child, Exome, Index case, Exome sequencing, ddc:618, Single Nucleotide, Syndrome, Perinatology, 3. Good health, and Child Health, Diabetes and Metabolism, 2712 Endocrinology, Diabetes and Metabolism, Hepatocyte Nuclear Factor 3-beta, Proline, Mutation, Missense, DNA Mutational Analysis/methods, 610 Medicine & health, 030209 endocrinology & metabolism, Polymorphism, Single Nucleotide, 03 medical and health sciences, Leucine, Diabetes mellitus, Exome Sequencing, Diabetes Mellitus, Internal Medicine, Humans, 2735 Pediatrics, Perinatology and Child Health, Polymorphism, Hepatocyte Nuclear Factor 3-beta/chemistry/genetics, business.industry, Neonatal hypoglycemia, Molecular, Diabetes Mellitus/congenital/genetics, Leucine/genetics, medicine.disease, Amino Acid Substitution, 10036 Medical Clinic, 2724 Internal Medicine, Mutation, Pediatrics, Perinatology and Child Health, Proline/genetics, FOXA2, Missense, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ccb6aa6c1c912e6bac6c6947542c54f
https://doi.org/10.1111/pedi.12814

المؤلفون: Zanoni, P., Khetarpal, S.A., Larach, D.B., Hancock-Cerutti, W.F., Millar, J.S., Cuchel, M., Derohannessian, S.L., Kontush, A., Surendran, P., Saleheen, D., Trompet, S., Jukema, J.W., de Craen, A.J., Deloukas, P., Sattar, N., Ford, I., Packard, C., Al Shafi Majumder, A., Alam, D.S., di Angelantonio, E., Abecasis, G., Chowdhury, R., Erdmann, J., Nørdestgaard, B.G., Nielsen, S.F., Tybjærg-Hansen, A., Schmidt, R.F., Kuulasmaa, K., Liu, D.J., Perola, M., Blankenberg, S., Salomaa, V., Männistö, S., Amouyel, P., Arveiler, D., Ferrieres, J., Müller-Nurasyid, M., Ferrario, M., Kee, F., Willer, C.J., Samani, N., Schunkert, H., Butterworth, A.S., Howson, J.M.M., Peloso, G.M., Stitziel, N.O., Danesh, J., Kathiresan, S., Rader, D.J., CHD Exome Consortium (), CARDIoGRAM Exome Consortium (), Global Lipids Genetics Consortium ()

المساهمون: CHD Exome+ Consortium, CARDIoGRAM Exome Consortium, Global Lipids Genetics Consortium, Watson, S., Schmidt, E.M., Sengupta, S., Gustafsson, S., Kanoni, S., Ganna, A., Chen, J., Buchkovich, M.L., Mora, S., Beckmann, J.S., Bragg-Gresham, J.L., Chang, H.Y., Demirkan, A., Den Hertog, H.M., Do, R., Donnelly, L.A., Ehret, G.B., Esko, T., Feitosa, M.F., Ferreira, T., Fischer, K., Fontanillas, P., Fraser, R.M., Freitag, D.F., Gurdasani, D., Heikkilä, K., Hyppönen, E., Isaacs, A., Jackson, A.U., Johansson, Å., Johnson, T., Kaakinen, M., Kettunen, J., Kleber, M.E., Li, X., Luan, J., Lyytikäinen, L.P., Magnusson, P.K., Mangino, M., Mihailov, E., Montasser, M.E., Nolte, I.M., O'Connell, J.R., Palmer, C.D., Petersen, A.K., Sanna, S., Saxena, R., Service, S.K., Shah, S., Shungin, D., Sidore, C., Song, C., Strawbridge, R.J., Surakka, I., Tanaka, T., Teslovich, T.M., Thorleifsson, G., Van den Herik, E.G., Voight, B.F., Volcik, K.A., Waite, L.L., Wong, A., Wu, Y., Zhang, W., Absher, D., Asiki, G., Barroso, I., Been, L.F., Bolton, J.L., Bonnycastle, L.L., Brambilla, P., Burnett, M.S., Cesana, G., Dimitriou, M., Doney, A.S., Döring, A., Elliott, P., Epstein, S.E., Eyjolfsson, G.I., Gigante, B., Goodarzi, M.O., Grallert, H., Gravito, M.L., Groves, C.J., Hallmans, G., Hartikainen, A.L., Hayward, C., Hernandez, D., Hicks, A.A., Holm, H., Hung, Y.J., Illig, T., Jones, M.R., Kaleebu, P., Kastelein, J.J., Khaw, K.T., Kim, E., Klopp, N., Komulainen, P., Kumari, M., Langenberg, C., Lehtimäki, T., Lin, S.Y., Lindström, J., Loos, R.J., Mach, F., McArdle, W.L., Meisinger, C., Mitchell, B.D., Müller, G., Nagaraja, R., Narisu, N., Nieminen, T.V., Nsubuga, R.N., Olafsson, I., Ong, K.K., Palotie, A., Papamarkou, T., Pomilla, C., Pouta, A., Reilly, M.P., Ridker, P.M., Rivadeneira, F., Rudan, I., Ruokonen, A., Scharnagl, H., Seeley, J., Silander, K., Stancáková, A., Stirrups, K., Swift, A.J., Tiret, L., Uitterlinden, A.G., van Pelt, L.J., Vedantam, S., Wainwright, N., Wijmenga, C., Wild, S.H., Willemsen, G., Wilsgaard, T., Wilson, J.F., Young, E.H., Zhao, J.H., Adair, L.S., Arveiler, D., Assimes, T.L., Bandinelli, S., Bennett, F., Bochud, M., Boehm, B.O., Boomsma, D.I., Borecki, I.B., Bornstein, S.R., Bovet, P., Burnier, M., Campbell, H., Chakravarti, A., Chambers, J.C., Chen, Y.D., Collins, F.S., Cooper, R.S., Dedoussis, G., de Faire, U., Feranil, A.B., Ferrucci, L., Freimer, N.B., Gieger, C., Groop, L.C., Gudnason, V., Gyllensten, U., Hamsten, A., Harris, T.B., Hingorani, A., Hirschhorn, J.N., Hofman, A., Hovingh, G.K., Hsiung, C.A., Humphries, S.E., Hunt, S.C., Hveem, K., Iribarren, C., Järvelin, M.R., Jula, A., Kähönen, M., Kaprio, J., Kesäniemi, A., Kivimaki, M., Kooner, J.S., Koudstaal, P.J., Krauss, R.M., Kuh, D., Kuusisto, J., Kyvik, K.O., Laakso, M., Lakka, T.A., Lind, L., Lindgren, C.M., Martin, N.G., März, W., McCarthy, M.I., McKenzie, C.A., Meneton, P., Metspalu, A., Moilanen, L., Morris, A.D., Munroe, P.B., Njølstad, I., Pedersen, N.L., Power, C., Pramstaller, P.P., Price, J.F., Psaty, B.M., Quertermous, T., Rauramaa, R., Salomaa, V., Sanghera, D.K., Saramies, J., Schwarz, P.E., Sheu, W.H., Shuldiner, A.R., Siegbahn, A., Spector, T.D., Stefansson, K., Strachan, D.P., Tayo, B.O., Tremoli, E., Tuomilehto, J., Uusitupa, M., van Duijn, C.M., Vollenweider, P., Wallentin, L., Wareham, N.J., Whitfield, J.B., Wolffenbuttel, B.H., Ordovas, J.M., Boerwinkle, E., Palmer, C.N., Thorsteinsdottir, U., Chasman, D.I., Rotter, J.I., Franks, P.W., Riatti, S., Cupples, L.A., Sandhu, M.S., Rich, S.S., Boehnke, M., Deloukas, P., Mohlke, K.L., Ingelsson, E., Gu, D., Roberts, R., Watkins, H., Blankenberg, S., Clarke, R., Collins, R., Kim, B.J., McPherson, R., Nieminen, M.S., O'Donnell, C., Schreiber, S., Zalloua, P.A., Zanoni, P, Khetarpal, SA, Larach, DB, Hancock-Cerutti, WF, Rader, DJ, Hypponen, Elina, Biological Psychology, Khetarpal, S, Larach, D, Hancock Cerutti, W, Millar, J, Cuchel, M, Derohannessian, S, Kontush, A, Surendran, P, Saleheen, D, Trompet, S, Wouter Jukema, J, De Craen, A, Deloukas, P, Sattar, N, Ford, I, Packard, C, Majumder, A, Alam, D, Di Angelantonio, E, Abecasis, G, Chowdhury, R, Erdmann, J, Nordestgaard, B, Nielsen, S, Tybjærg Hansen, A, Ruth Frikke Schmidt, N, Kuulasmaa, K, Liu, D, Perola, M, Blankenberg, S, Salomaa, V, Männistö, S, Amouyel, P, Arveiler, D, Ferrieres, J, Möller Nurasyid, M, Ferrario, M, Kee, F, Willer, C, Samani, N, Schunkert, H, Butterworth, A, Howson, J, Peloso, G, Stitziel, N, Danesh, J, Kathiresan, S, Rader, D, Brambilla, P, ACS - Amsterdam Cardiovascular Sciences, Vascular Medicine

المصدر: Science 351, 1166-1671 (2016)
Science, 351(6278), 1166-1171
Science (New York, N.Y.), vol. 351, no. 6278, pp. 1166-1171
Zanoni, P, Khetarpal, S A, Larach, D B, Hancock-Cerutti, W F, Millar, J S, Cuchel, M, DerOhannessian, S, Kontush, A, Surendran, P, Saleheen, D, Trompet, S, Jukema, J W, Craen, A J M, Deloukas, P, Sattar, N, Ford, I, Packard, C, Majumder, A, Alam, D S, Di Angelantonio, E, Abecasis, G, Chowdhury, R, Erdmann, J, Nordestgaard, B G, Nielsen, S F, Tybjærg-Hansen, A, Schmidt, R F, Kuulasmaa, K, Liu, D J, Perola, M, Blankenberg, S, Salomaa, V, Männistö, S, Amouyel, P, Arveiler, D, Ferrières, J, Müller-Nurasyid, M, Ferrario, M M, Kee, F, Willer, C J, Samani, N, Schunkert, H, Butterworth, A S, Howson, J M, Peloso, G M, Stitziel, N O, Danesh, J, Kathiresan, S, Rader, D J, Willemsen, G & Boomsma, D I 2016, ' Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease ', Science, vol. 351, no. 6278, pp. 1166-1171 . https://doi.org/10.1126/science.aad3517
Science, 351(6278), 1166-1171. American Association for the Advancement of Science
Science

مصطلحات موضوعية: Netherlands Twin Register (NTR), 0301 basic medicine, Male, BIO/12 - BIOCHIMICA CLINICA E BIOLOGIA MOLECOLARE CLINICA, Scavenger Receptors, DNA Mutational Analysis, Coronary Disease, 030204 cardiovascular system & hematology, scavenger receptor, chemistry.chemical_compound, Mice, 0302 clinical medicine, High-density lipoprotein, Receptor, increased atherosclerosis, levels of plasma, Multidisciplinary, Medicine (all), Homozygote, Scavenger Receptors, Class B, Middle Aged, 3. Good health, Cholesterol, Knockout mouse, Female, lipids (amino acids, peptides, and proteins), Human, Risk, medicine.medical_specialty, Heterozygote, HDL, Proline, Aged, Amino Acid Substitution, Animals, Cholesterol, HDL, Genetic Variation, Humans, Leucine, Protein Processing, Post-Translational, Article, DNA Mutational Analysi, Cholesterol, HDL/blood, Coronary Disease/blood, Coronary Disease/genetics, Leucine/genetics, Proline/genetics, Scavenger Receptors, Class B/genetics, Scavenger Receptors, Class B/metabolism, 03 medical and health sciences, Internal medicine, medicine, Scavenger receptor, Protein Processing, Animal, business.industry, Post-Translational, Heterozygote advantage, SCARB1, 030104 developmental biology, Endocrinology, chemistry, Class B, business, Lipoprotein

وصف الملف: application/pdf; STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b173e5f210a75b96d54c65ead8ebfc2d
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=48090

المؤلفون: Ma, Jun, Nordman, Sofia, Möllsten, Anna, Falhammar, Henrik, Brismar, Kerstin, Dahlquist, Gisela, Efendic, Suad, Gu, Harvest F

المصدر: Eur J Endocrinol. 157(5):641-5

مصطلحات موضوعية: Adult, Diabetes Mellitus, Type 1/epidemiology/*genetics, Diabetic Nephropathies/epidemiology/*genetics, Female, Gene Frequency/genetics, Genetic Predisposition to Disease/genetics, Genotype, Humans, Leucine/*genetics, Male, Middle Aged, Neuropeptide Y/*genetics, Polymorphism, Single Nucleotide/*genetics, Proline/*genetics, Sweden/epidemiology, United States/epidemiology

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-7081
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed&cmd=Retrieve&list_uids=17984244&dopt=Citation

المؤلفون: Pursell, Zachary F, Isoz, Isabelle, Lundström, Else-Britt, Johansson, Erik, Kunkel, Thomas A

المصدر: Nucleic Acids Research. 35(9):3076-3086

مصطلحات موضوعية: Amino Acid Substitution, Binding Sites, DNA/biosynthesis, DNA Polymerase II/*chemistry/genetics/*metabolism, Exodeoxyribonucleases/genetics/metabolism, Leucine/genetics, Methionine/genetics, Mutation, Phenotype, Phenylalanine/genetics, Saccharomyces cerevisiae/enzymology/genetics, Saccharomyces cerevisiae Proteins/*chemistry/genetics/*metabolism, Tryptophan/genetics

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-6350
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed&cmd=Retrieve&list_uids=17452367&dopt=Citation

المؤلفون: Armulik, Annika, Velling, Teet, Johansson, Staffan

المصدر: Mol Biol Cell. 15(6):2558-67

مصطلحات موضوعية: 1-Phosphatidylinositol 3-Kinase/*metabolism, Amino Acid Sequence, Amino Acid Substitution/genetics, Animals, Antigens, CD29/*chemistry/genetics/*metabolism, Cell Adhesion, Cell Line, Cell Membrane, Cell Movement, Enzyme Activation, Extracellular Matrix Proteins/metabolism, Leucine/genetics, Lysine/genetics, Mice, Molecular Sequence Data, Phosphorylation, Phosphotyrosine/*metabolism, Protein Structure, Tertiary, Protein Subunits/chemistry, Protein-Tyrosine Kinase/metabolism, Proteins/*metabolism, Research Support, Non-U.S. Gov't, src-Family Kinases/metabolism

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-68013
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed&cmd=Retrieve&list_uids=15034138&dopt=Citation

المؤلفون: Christian Janzen, C. Kammerbauer, Krzysztof Masternak, Walter Reith, Viktor Steimle, Sandra B. Hake

المصدر: Molecular and Cellular Biology, Vol. 20, No 20 (2000) pp. 7716-7725

مصطلحات موضوعية: Cell Extracts, RFXANK, Nuclear Localization Signals, ddc:616.07, MHC Class II Gene, Transactivation, Tumor Cells, Cultured, Promoter Regions, Genetic, Genes, MHC Class II/ genetics, Genetics, DNA-Binding Proteins/metabolism, biology, Nuclear Proteins, Chromatin, DNA-Binding Proteins, Trans-Activators/chemistry/genetics/ metabolism, Enhancer Elements, Genetic, Phenotype, Protein Binding, Repetitive Sequences, Amino Acid, Transcriptional Activation, Mutation/genetics, Genes, MHC Class II, Molecular Sequence Data, Active Transport, Cell Nucleus, Regulatory Factor X Transcription Factors, chemical and pharmacologic phenomena, Major histocompatibility complex, Models, Biological, Enhanceosome, Leucine, CIITA, Humans, Amino Acid Sequence, Molecular Biology, Transcriptional Regulation, Cell Nucleus, Chromatin/genetics/metabolism, Cytoplasmic Structures/genetics/ metabolism, MHC class II, Histocompatibility Antigens Class II/ metabolism, Enhancer Elements, Genetic/genetics, Histocompatibility Antigens Class II, Cell Biology, Precipitin Tests, Mutation, Cell Nucleus/metabolism, Trans-Activators, biology.protein, Cytoplasmic Structures, Sequence Alignment, RFX5, Leucine/genetics/ metabolism

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f44b67c35526d74fb1a0373b2b4faef
https://doi.org/10.1128/mcb.20.20.7716-7725.2000

المؤلفون: Chowdhary, Anuradha, Kathuria, Shallu, Xu, Jianping, Sharma, Cheshta, Sundar, Gandhi, Singh, Pradeep Kumar, Gaur, Shailendra N, Hagen, Ferry, Klaassen, Corné H, Meis, Jacques F

المساهمون: Westerdijk Fungal Biodiversity Institute

المصدر: PLoS ONE, Vol 7, Iss 12, p e52871 (2012)
PLoS ONE
PLoS One, 7(12). Public Library of Science

مصطلحات موضوعية: Antifungal Agents, Cytochrome P-450 Enzyme System/genetics, Colony Count, Microbial, Mutation, Missense, India, lcsh:Medicine, Aspergillus fumigatus/drug effects, Mycology, Environment, Microbiology, Microbial Ecology, Fungal Proteins, Amino Acid Substitution/physiology, Fungicides, Industrial/pharmacology, Cytochrome P-450 Enzyme System, Leucine, Drug Resistance, Multiple, Fungal, Mutation, Missense/physiology, Humans, Aspergillosis, Histidine, lcsh:Science, Biology, Microbial Pathogens, Drug Resistance, Multiple, Fungal/genetics, Triazoles/pharmacology, Ecology, Aspergillus fumigatus, Microbial Mutation, lcsh:R, Fungi, Fungal Diseases, Leucine/genetics, Triazoles, Clone Cells, Fungicides, Industrial, Fungal Proteins/genetics, India/epidemiology, Tandem Repeat Sequences/genetics, Infectious Diseases, Histidine/genetics, Amino Acid Substitution, Tandem Repeat Sequences, Antifungal Agents/pharmacology, Medicine, lcsh:Q, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::275b51276e2d764997b2a1dd2817b230
http://europepmc.org/articles/PMC3532406?pdf=render

المؤلفون: Jason P. Lerch, Keith Trimble, David J. Porteous, R. Mark Henkelman, John C. Roder, Tatiana V. Lipina, Hideki Kaneda, Yoshiyuki Sakuraba, Masashi Uchiyama, Yoichi Gondo, John G. Sled, Steven J. Clapcote, Shaun Mackie, J. Kirsty Millar, Fumiaki Ogawa, Toshihiko Shiroishi, Miles D. Houslay, Sheila Christie

المصدر: Clapcote, S J, Lipina, T V, Millar, J K, Mackie, S, Christie, S, Ogawa, F, Lerch, J P, Trimble, K, Uchiyama, M, Sakuraba, Y, Kaneda, H, Shiroishi, T, Houslay, M D, Henkelman, R M, Sled, J G, Gondo, Y, Porteous, D J & Roder, J C 2007, ' Behavioral phenotypes of Disc1 missense mutations in mice ', Neuron, vol. 54, no. 3, pp. 387-402 . https://doi.org/10.1016/j.neuron.2007.04.015

مصطلحات موضوعية: Male, Threonine, Glutamine, Mutant, DNA Mutational Analysis, HUMDISEASE, medicine.disease_cause, Mice, 0302 clinical medicine, Latent inhibition, PDE4B, Missense mutation, Prepulse inhibition, Genetics, 0303 health sciences, Mutation, Alanine, Behavior, Animal, General Neuroscience, Brain, 3',5'-Cyclic-AMP Phosphodiesterases/metabolism Alanine/genetics Animals Behavior, Animal/drug effects/*physiology Brain/anatomy & histology Cyclic Nucleotide Phosphodiesterases, Type 4 DNA Mutational Analysis/methods Female Glutamine/genetics Humans Leucine/genetics Male Mice Mice, Inbred C57BL Mice, Mutant Strains/anatomy & histology/*physiology Mutation, Missense/*genetics Nerve Tissue Proteins/*genetics Neural Inhibition/genetics *Phenotype Protein Binding/genetics Reflex, Acoustic/genetics Subcellular Fractions/metabolism Threonine/genetics, Phenotype, Female, medicine.drug, Protein Binding, Subcellular Fractions, medicine.medical_specialty, Neuroscience(all), Mutation, Missense, Nerve Tissue Proteins, Biology, MOLNEURO, 03 medical and health sciences, DISC1, Leucine, Internal medicine, medicine, Animals, Humans, Rolipram, 030304 developmental biology, Neural Inhibition, Mice, Mutant Strains, Reflex, Acoustic, Cyclic Nucleotide Phosphodiesterases, Type 4, Mice, Inbred C57BL, Endocrinology, 3',5'-Cyclic-AMP Phosphodiesterases, biology.protein, SYSNEURO, 030217 neurology & neurosurgery

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المصدر: PLoS One vol.7 (2012) nr.12 p.e52871 [ISSN 1932-6203]

مصطلحات الفهرس: Amino Acid Substitution/physiology, Antifungal Agents/pharmacology, Aspergillus fumigatus/drug effects, Clone Cells, Colony Count, Microbial, Cytochrome P-450 Enzyme System/genetics, Drug Resistance, Multiple, Fungal/genetics, Environment, Fungal Proteins/genetics, Fungicides, Industrial/pharmacology, Histidine/genetics, Humans, India/epidemiology, Leucine/genetics, Mutation, Missense/physiology, Tandem Repeat Sequences/genetics, Triazoles/pharmacology, Artikel, Article

URL: https://pure.knaw.nl/portal/en/publications/a70f7d17-ccc5-41b3-9ab6-454a0058a548