المؤلفون: Smith, Kristen M, Yacobi, Rinat, Van Etten, Richard A

المصدر: Molecular cell. 12(1)

مصطلحات موضوعية: 3T3 Cells, Alanine: genetics, metabolism, Amino Acid Sequence: genetics, Animals, Binding Sites: genetics, Catalytic Domain: drug effects, genetics, Cell Transformation, Neoplastic: genetics, metabolism, Enzyme Inhibitors: pharmacology, Eukaryotic Cells: enzymology, Feedback, Physiological: drug effects, genetics, Fusion Proteins, bcr-abl, Humans, Leukemia, Myelogenous, Chronic, BCR-ABL Positive: enzymology, genetics, Mice, Mice, Inbred BALB C, Models, Molecular, Mutation: drug effects, genetics, Phosphorylation: drug effects, Proline: genetics, metabolism, Protein Binding: drug effects, genetics, Protein Structure, Tertiary: drug effects, genetics, Protein-Tyrosine Kinases: antagonists & inhibitors, genetics, metabolism, Tyrosine: metabolism

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8506z8zt

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: Pernasetti, Flavia, Milner, Robert DG, al Ashwal, Abdullah A Z, de Zegher, Francis, Chavez, Viviana M, Muller, Marc, Martial, Joseph

المصدر: Journal of Clinical Endocrinology and Metabolism, 83 (6), 2079-83 (1998)

مصطلحات موضوعية: Codon, DNA/metabolism, DNA-Binding Proteins/chemistry/*genetics/metabolism, Female, Human Growth Hormone/*deficiency, Humans, Infant, Male, Pedigree, *Point Mutation, Polymerase Chain Reaction, Prolactin/*deficiency, Proline/genetics, Protein Structure, Secondary, Saudi Arabia, Serine/genetics, Thyrotropin/*deficiency, Transcription Factor Pit-1, Transcription Factors/chemistry/*genetics/metabolism, Transcription, Genetic, Transcriptional Activation, Life sciences, Biochemistry, biophysics & molecular biology, Sciences du vivant, Biochimie, biophysique & biologie moléculaire

Relation: http://jcem.endojournals.org/cgi/content/full/83/6/2079#FN3; urn:issn:0021-972X; urn:issn:1945-7197

URL الوصول: https://orbi.uliege.be/handle/2268/19827

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: Huang, Shenghua, Sjöblom, Björn, Sauer-Eriksson, Elisabeth, Jonsson, Bengt-Harald

المصدر: Biochemistry. 41(24):7628-35

مصطلحات موضوعية: Amino Acid Substitution/*genetics, Bicarbonates/chemistry/metabolism, Binding Sites, Carbon Dioxide/chemistry/metabolism, Carbonic Anhydrases/*chemistry/*genetics/metabolism, Catalysis, Crystallography, X-Ray, Cysteine/genetics, Humans, Mercaptoethanol/chemistry, Mutagenesis, Site-Directed, Proline/genetics, Recombinant Proteins/chemistry/metabolism, Serine/genetics, Structure-Activity Relationship, Substrate Specificity/genetics, Thiocyanates/chemistry/metabolism, Threonine/genetics, Water/chemistry/metabolism

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-13957
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed&cmd=Retrieve&list_uids=12056894&dopt=Citation

المؤلفون: Xavier Bisteau, Pierre P. Roger, Laurence Bockstaele, Sabine Paternot

المصدر: Molecular and cellular biology, 29 (15

مصطلحات موضوعية: Threonine, Cyclin-Dependent Kinases -- genetics, Cyclins -- metabolism, Cyclin A, environment and public health, Threonine -- metabolism, Cyclins -- genetics, Cricetinae, Cyclin-Dependent Kinase 4 -- genetics, Protein phosphorylation, Cyclin-Dependent Kinase 6 -- genetics, Electrophoresis, Gel, Two-Dimensional, Cyclin D3, Phosphorylation, Fluorescent Antibody Technique, Indirect, Cyclin-Dependent Kinase 6 -- metabolism, Kinase, Articles, Sciences bio-médicales et agricoles, Cyclin-Dependent Kinases, Proline -- genetics, biological phenomena, cell phenomena, and immunity, Cyclin-Dependent Kinases -- metabolism, Protein Binding, Proline, Blotting, Western, Molecular Sequence Data, CHO Cells, Biology, Transfection, Cell Line, Cricetulus, Cyclin-dependent kinase, Cyclins, Cell Line, Tumor, Animals, Humans, Immunoprecipitation, Amino Acid Sequence, Molecular Biology, Proline -- metabolism, Sequence Homology, Amino Acid, Cyclin-dependent kinase 4, Cyclin-Dependent Kinase 4, Cell Biology, Cyclin-Dependent Kinase 6, Cyclin-Dependent Kinase 4 -- metabolism, HCT116 Cells, Molecular biology, enzymes and coenzymes (carbohydrates), Mutation, biology.protein, Cyclin-dependent kinase complex, Threonine -- genetics, Cyclin A2, Cyclin-Dependent Kinase-Activating Kinase

وصف الملف: 1 full-text file(s): application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c3045ed052a7fa1ea1a750ce63dc6e5
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/51536

المؤلفون: Herken H, Erdal M, Aydin N, Sengul C, Karadag F, Barlas O, Akin F

مصطلحات موضوعية: Adult, Alanine/*genetics, Antipsychotic Agents/*pharmacology/therapeutic use, Base Sequence, Benzodiazepines/*pharmacology/therapeutic use, DNA Primers, Humans, Middle Aged, Olanzapine, PPAR gamma/chemistry/*genetics, Proline/*genetics, Schizophrenia/*drug therapy/genetics, Weight Gain/*drug effects

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3566::b86a07150cad1bdaa736fc0134f093bc

المؤلفون: M. Vernez, O. Gugerli, N. Halkic, P. Hutter, Hanifa Bouzourene, C. Monnerat

المصدر: Familial Cancer, vol. 6, no. 1, pp. 141-145

مصطلحات موضوعية: Adenoma, Adult, Cancer Research, Pathology, medicine.medical_specialty, Skin Neoplasms, Proline, Sebaceous Gland Neoplasm, DNA Mutational Analysis, Mutation, Missense, Cholangiocarcinoma, Neoplasms, Multiple Primary, Germline mutation, Polyps, Muir–Torre syndrome, Neoplastic Syndromes, Hereditary, Genetics, medicine, Serine, Missense mutation, Humans, Sebaceous Gland Neoplasms, Genetics (clinical), Intrahepatic Cholangiocarcinoma, Germ-Line Mutation, business.industry, Brain Neoplasms, Carcinoma, Liver Neoplasms, Syndrome, medicine.disease, Adenocarcinoma, Mucinous, Colorectal Neoplasms, Hereditary Nonpolyposis, Adenocarcinoma, Mucinous/genetics, Adenocarcinoma, Mucinous/surgery, Adenoma/genetics, Adenoma/surgery, Brain Neoplasms/genetics, Brain Neoplasms/secondary, Carcinoma/genetics, Carcinoma/surgery, Cholangiocarcinoma/genetics, Cholangiocarcinoma/secondary, Colorectal Neoplasms, Hereditary Nonpolyposis/genetics, Colorectal Neoplasms, Hereditary Nonpolyposis/surgery, DNA Probes, DNA-Binding Proteins, Endometrial Neoplasms/surgery, Female, Liver Neoplasms/genetics, Liver Neoplasms/surgery, Microsatellite Instability, MutS Homolog 2 Protein/deficiency, Neoplasms, Multiple Primary/genetics, Neoplasms, Multiple Primary/surgery, Neoplastic Syndromes, Hereditary/genetics, Neoplastic Syndromes, Hereditary/surgery, Polyps/surgery, Proline/genetics, Sebaceous Gland Neoplasms/genetics, Sebaceous Gland Neoplasms/surgery, Serine/genetics, Skin Neoplasms/genetics, Skin Neoplasms/secondary, digestive system diseases, Endometrial Neoplasms, MutS Homolog 2 Protein, Oncology, MSH2, Cancer research, Adenocarcinoma, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e5938883bf5826766a13f0d7e2e2601
https://pubmed.ncbi.nlm.nih.gov/17051350

المؤلفون: Christoph Gasche, Stefan Ries, Gerd Schmitz, Petra Fehringer, Heiner Greten, Charalampos Aslanidis, Nikola Jung, Christa Büchler, Dominique C. Belli, Detlev Ameis, Gisela Schindler, Axel Schambach, Marie T. Vanier

المصدر: Human Mutation, Vol. 12, No 1 (1998) pp. 44-51

مصطلحات موضوعية: Male, Heterozygote, Insecta, Genotype, Proline, RNA Splicing, Biology, Compound heterozygosity, medicine.disease_cause, Exon, Genetics, medicine, Missense mutation, Animals, Humans, Histidine, Gene, Genetics (clinical), Cells, Cultured, DNA Primers, chemistry.chemical_classification, Mutation, ddc:618, Transition (genetics), Base Sequence, Cholesterol Ester Storage Disease, Lysosomes/enzymology, Point mutation, Lipase, Molecular biology, Insects, Cholesterol Ester Storage Disease/genetics, Enzyme, Phenotype, Histidine/genetics, chemistry, Biochemistry, Amino Acid Substitution, Proline/genetics, Female, Lysosomes, Lipase/genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3966df3f769e4ec450690b0a3b4773f5
https://pubmed.ncbi.nlm.nih.gov/9633819