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المؤلفون: Xiaolong Fan, Fan Wu, Chunsheng Kang, Yanfei Wei, Jing Feng, Zhengmin Cong, Wen Cheng, Kaikai Yi, Ayaz Ali Samo, Yunqiu Zhang, Qiong Yang, Tao Jiang, Jiuyi Li, Zheng Wang, Paolo Salomoni, Yu Huang
المصدر: Proceedings of the National Academy of Sciences of the United States of America 116(14), 6975-6984 (2019). doi:10.1073/pnas.1814060116
مصطلحات موضوعية: Male, Genome instability, genetics [Glioma], genetics [Biomarkers, Tumor], Cdc20 Proteins, biosynthesis [Neoplasm Proteins], pharmacology [Temozolomide], Mice, Nude, Biology, Corrections, metabolism [Glioma], Genomic Instability, Transcriptome, Mice, Chromosome instability, Glioma, drug therapy [Glioma], Biomarkers, Tumor, Temozolomide, medicine, Animals, Humans, Progenitor cell, Mitosis, genetics [Neoplasm Proteins], Multidisciplinary, Gene Expression Profiling, biosynthesis [Biomarkers, Tumor], Cell cycle, medicine.disease, Xenograft Model Antitumor Assays, Neoplasm Proteins, genetics [Cdc20 Proteins], Gene Expression Regulation, Neoplastic, CDC20 protein, human, Chemotherapy, Adjuvant, Tumor progression, Cancer research, Female, ddc:500, pathology [Glioma], biosynthesis [Cdc20 Proteins]
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المؤلفون: Angelika Rieß, Shabab B. Hannan, Hessa S. Alsaif, Tadahiro Mitani, Ghassan Balousha, Siddharth Banka, Kendall C. Parks, Reza Azizi Malamiri, Henry Houlden, James R. Lupski, Elliott H. Sherr, Emanuela Argilli, Joseph J. Gleeson, Osama Balousha, Jakob Admard, Thomas Nägele, Adam Jackson, Zaid Ghanim, Alistair T. Pagnamenta, Ana Velic, Sarah Dyack, Reza Maroofian, Holger Hengel, Hamad Al-Zaidan, Stefanie Schuster, Amber Begtrup, Neda Mazaheri, Helen Kingston, Stephan Ossowski, Davut Pehlivan, Ludger Schöls, Mohammad Yahya Vahidi Mehrjardi, Stefan Hauser, Tobias B. Haack, Sara MacKay, Gholamreza Shariati, Hamid Galehdari, Mathew Osmond, Nicolas Casadei, Martin Fleger, Sevcan Tug Bozdogan, Andreas Kurringer, Ulrich A. Schatz, Boris Macek, Fowzan S. Alkuraya, Mohammadreza Dehghani
المصدر: American journal of human genetics, vol 108, iss 6
The American journal of human genetics 108(6), 1069-1082 (2021). doi:10.1016/j.ajhg.2021.04.024
American Journal of Human Genetics
Care4Rare Canada Consortium 2021, ' Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1069-1082 . https://doi.org/10.1016/j.ajhg.2021.04.024مصطلحات موضوعية: Proband, Male, Microcephaly, metabolism [Neurodevelopmental Disorders], Care4Rare Canada Consortium, Proteome, Loss of Heterozygosity, Medical and Health Sciences, Germline, Mice, transcriptomics, Neurodevelopmental disorder, Neoplasm Proteins/genetics, Cell Movement, Loss of Function Mutation, thin corpus callosum, BCAS3, 2.1 Biological and endogenous factors, Global developmental delay, microcephaly, Aetiology, Child, analysis [Proteome], Genetics (clinical), Fibroblasts/metabolism, Genetics, Mice, Knockout, Pediatric, Genetics & Heredity, 0303 health sciences, 030305 genetics & heredity, BCAS3 protein, human, Biological Sciences, ddc, Neoplasm Proteins, Pedigree, Child, Preschool, metabolism [Neoplasm Proteins], Knockout mouse, Drosophila, Female, UAS-Gal4, medicine.symptom, pathology [Fibroblasts], metabolism [Fibroblasts], Adult, Adolescent, pyramidal tract involvement, Knockout, global developmental delay, Biology, Short stature, Article, 03 medical and health sciences, Young Adult, proteomics, ddc:570, etiology [Neurodevelopmental Disorders], fibroblasts, Proteome/analysis, medicine, pathology [Neurodevelopmental Disorders], Neurodevelopmental Disorders/etiology, Animals, Humans, Allele, Preschool, 030304 developmental biology, genetics [Neoplasm Proteins], Human Genome, Infant, medicine.disease, neurodevelopmental disorder, Brain Disorders, Genomics England Research Consortium, Neurodevelopmental Disorders, Congenital Structural Anomalies
وصف الملف: application/pdf
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المؤلفون: Nefeli Zacharopoulou, Christos Stournaras, Bhuyan Aam, Itishri Sahu, Zohreh Hosseinzadeh, Ludger Schöls, Basma Sukkar, Florian Lang, Tamer Al-Maghout, Lisann Pelzl, Stefan Hauser
المصدر: Cellular Physiology and Biochemistry, Vol 51, Iss 1, Pp 278-289 (2018)
Cellular physiology and biochemistry 51(1), 278-289 (2018). doi:10.1159/000495229مصطلحات موضوعية: 0301 basic medicine, Orai1, Patch-Clamp Techniques, ORAI1 Protein, Physiology, Cellular differentiation, Gene Expression, STIM1 protein, human, metabolism [Neurodegenerative Diseases], wogonin, lcsh:Physiology, Membrane Potentials, chemistry.chemical_compound, metabolism [Calcium], lcsh:QD415-436, genetics [ORAI1 Protein], Cells, Cultured, Neurons, lcsh:QP1-981, Kinase, ORAI1, pathology [Neurodegenerative Diseases], NF-kappa B, Neurodegenerative Diseases, Cell Differentiation, drug effects [Gene Expression], metabolism [Stromal Interaction Molecule 1], cytology [Induced Pluripotent Stem Cells], Neoplasm Proteins, Cell biology, metabolism [Neurons], metabolism [ORAI1 Protein], metabolism [Neoplasm Proteins], Flavanones, metabolism [NF-kappa B], Thapsigargin, pharmacology [Flavanones], SOCE, Induced Pluripotent Stem Cells, Calcium-Transporting ATPases, Lithium, lcsh:Biochemistry, 03 medical and health sciences, Wogonin, Downregulation and upregulation, genetics [Stromal Interaction Molecule 1], ddc:570, pharmacology [Thapsigargin], antagonists & inhibitors [Calcium-Transporting ATPases], Humans, antagonists & inhibitors [NF-kappa B], drug effects [Neurons], Stromal Interaction Molecule 1, Patch clamp, metabolism [Calcium-Transporting ATPases], genetics [Neoplasm Proteins], pharmacology [Lithium], Chorein, drug effects [Membrane Potentials], 030104 developmental biology, chemistry, cytology [Neurons], SGK1, Calcium, NFκB
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المؤلفون: Itishri Sahu, Lisann Pelzl, Mohamed Jemaà, Philip Höflinger, Rosi Bissinger, Ludger Schöls, Christos Stournaras, Florian Lang, Bhaeldin Elsir, Yogesh Singh, Basma Sukkar, Stefan Hauser
المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-10 (2017)
Scientific reports 7(1), 6457 (2017). doi:10.1038/s41598-017-06451-1مصطلحات موضوعية: 0301 basic medicine, ORAI1 Protein, Lithium (medication), Stimulation, STIM1 protein, human, Benzoates, 0302 clinical medicine, metabolism [Neuroacanthocytosis], pathology [Neurons], metabolism [Calcium], genetics [ORAI1 Protein], ORAI1 protein, human, Multidisciplinary, Cell Death, ORAI1, Kinase, Cell Differentiation, metabolism [Stromal Interaction Molecule 1], STIM1, Healthy Volunteers, Neoplasm Proteins, Blot, metabolism [Neurons], metabolism [ORAI1 Protein], metabolism [Neoplasm Proteins], 030220 oncology & carcinogenesis, GSK 650394, Medicine, pathology [Fibroblasts], metabolism [Fibroblasts], Glucocorticoid, pharmacology [Benzoates], medicine.drug, medicine.medical_specialty, Science, drug effects [Apoptosis], Lithium, Biology, 03 medical and health sciences, pharmacology [Bridged Bicyclo Compounds, Heterocyclic], genetics [Stromal Interaction Molecule 1], Internal medicine, medicine, Humans, drug effects [Neurons], Stromal Interaction Molecule 1, drug effects [Fibroblasts], genetics [Neoplasm Proteins], pharmacology [Lithium], Bridged Bicyclo Compounds, Heterocyclic, 030104 developmental biology, Endocrinology, Apoptosis, Calcium, ddc:600, pathology [Neuroacanthocytosis]
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المؤلفون: Daniel Strebinger, Terence H. Rabbitts, Shane J. F. Cronin, Jiri Wald, Francesca Macaluso, Antoine Chabloz, Josef M. Penninger, Thomas C. Marlovits, Ivona Kozieradzki, Andreas Plückthun, Jonas V. Schaefer
المساهمون: University of Zurich, Marlovits, Thomas C, Penninger, Josef M
المصدر: Communications biology 3(1), 342 (2020). doi:10.1038/s42003-020-1072-4
Communications Biology, Vol 3, Iss 1, Pp 1-11 (2020)
Communications Biologyمصطلحات موضوعية: 0301 basic medicine, Salmonella typhimurium, metabolism [Recombinant Proteins], Medicine (miscellaneous), genetics [Carrier Proteins], law.invention, Type three secretion system, 0302 clinical medicine, Cytosol, law, Type III Secretion Systems, lcsh:QH301-705.5, metabolism [Type III Secretion Systems], Effector, Chemistry, 2701 Medicine (miscellaneous), Cancer metabolism, Recombinant Proteins, Cell biology, Neoplasm Proteins, genetics [Recombinant Proteins], 030220 oncology & carcinogenesis, metabolism [Neoplasm Proteins], Recombinant DNA, General Agricultural and Biological Sciences, Intracellular, genetics [Bacterial Proteins], metabolism [Bacterial Proteins], 610 Medicine & health, 1100 General Agricultural and Biological Sciences, genetics [Salmonella typhimurium], DNA-binding protein, General Biochemistry, Genetics and Molecular Biology, Article, Applied microbiology, 03 medical and health sciences, Bacterial Proteins, 1300 General Biochemistry, Genetics and Molecular Biology, ddc:570, 10019 Department of Biochemistry, Humans, Secretion, growth & development [Salmonella typhimurium], genetics [Neoplasm Proteins], Protein transport, Molecular engineering, Protein delivery, HCT116 Cells, 030104 developmental biology, genetics [Type III Secretion Systems], Ras Signaling Pathway, lcsh:Biology (General), 570 Life sciences, biology, metabolism [Cytosol], metabolism [Salmonella typhimurium], Carrier Proteins, metabolism [Carrier Proteins], HeLa Cells
وصف الملف: Chabloz_42003_2020_Article_1072.pdf - application/pdf
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المؤلفون: Gerald Seifert, Florian Hoss, Stefan Canzar, Juan F. Rodriguez-Alcazar, Matthias Geyer, Francisca Rojas Ringeling, Hal M. Hoffman, Rainer Stahl, Christopher D. Putnam, James L. Mueller, Lori Broderick, Eicke Latz, Richard D. Kolodner, Rebecca Brinkschulte
المصدر: Nature Communications 10(1), 3238 (2019). doi:10.1038/s41467-019-11076-1
Nature Communications
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
Nature communications, vol 10, iss 1مصطلحات موضوعية: 0301 basic medicine, RNA splicing, Swine, Inflammasomes, metabolism [NLR Family, Pyrin Domain-Containing 3 Protein], LRPPRC protein, human, General Physics and Astronomy, 02 engineering and technology, Inflammasome, Exon, NOD-like receptors, metabolism [NIMA-Related Kinases], Innate, Protein Isoforms, NIMA-Related Kinases, genetics [Inflammasomes], lcsh:Science, chemistry [Inflammasomes], Cells, Cultured, Innate immunity, Cultured, Multidisciplinary, integumentary system, Exons, genetics [Exons], 021001 nanoscience & nanotechnology, Neoplasm Proteins, metabolism [Neoplasm Proteins], ddc:500, 0210 nano-technology, medicine.drug, genetics [Protein Isoforms], 1.1 Normal biological development and functioning, Science, Cells, chemistry [Neoplasm Proteins], Protein domain, chemical and pharmacologic phenomena, Computational biology, genetics [NIMA-Related Kinases], NLR Family, Biology, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, Protein Domains, Underpinning research, chemistry [Protein Isoforms], NLR Family, Pyrin Domain-Containing 3 Protein, Genetics, medicine, NLRP3 protein, human, Gene family, Animals, Humans, Amino Acid Sequence, metabolism [Protein Isoforms], genetics [NLR Family, Pyrin Domain-Containing 3 Protein], Stochastic Processes, genetics [Neoplasm Proteins], Macrophages, fungi, HEK 293 cells, Alternative splicing, Immunity, chemistry [NLR Family, Pyrin Domain-Containing 3 Protein], General Chemistry, Pyrin Domain-Containing 3 Protein, Immunity, Innate, genetics [Immunity, Innate], Alternative Splicing, 030104 developmental biology, HEK293 Cells, metabolism [Macrophages], lcsh:Q, NEK7 protein, human, metabolism [Inflammasomes], Function (biology)
وصف الملف: application/pdf
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المؤلفون: Juha Saarikangas, Geneviève Chazal, Lore Becker, Valerie Gailus-Durner, Yosuke Senju, Rimante Minkeviciene, Thomas Klopstock, Martin Hrabě de Angelis, Lotta von Ossowski, Tomi Taira, Helmut Fuchs, Wolfgang Hans, Lillian Garrett, Sabine M. Hölter, Andreas Zimmer, Nazim Kourdougli, Pirta Hotulainen, Claudio Rivera, Ildiko Racz, Jaakko Kuurne, Pieta K. Mattila, Wolfgang Wurst, Mikael Segerstråle, Pekka Lappalainen
المصدر: Dev. Cell 33, 644-659 (2015)
Developmental cell 33(6), 644-659 (2015). doi:10.1016/j.devcel.2015.04.014مصطلحات موضوعية: Male, Phosphatidylinositol 4,5-Diphosphate, Dendritic spine, metabolism [Actin-Related Protein 2-3 Complex], Synaptogenesis, metabolism [Hippocampus], Hippocampus, Synaptic Transmission, Membrane bending, Actin remodeling of neurons, Mice, 0302 clinical medicine, Cerebellum, deficiency [Microfilament Proteins], Tissue Distribution, metabolism [Phosphatidylinositol 4,5-Diphosphate], Mice, Knockout, 0303 health sciences, Behavior, Animal, Microfilament Proteins, Mtss1 protein, mouse, metabolism [Cerebellum], physiology [Neurogenesis], physiology [Dendritic Spines], growth & development [Nerve Net], Cell biology, Dendritic filopodia, Neoplasm Proteins, physiology [Behavior, Animal], genetics [Neurogenesis], physiology [Neoplasm Proteins], physiology [Nerve Net], Female, ultrastructure [Dendritic Spines], genetics [Synaptic Transmission], metabolism [Actins], Dendritic Spines, Neurogenesis, Models, Neurological, physiology [Microfilament Proteins], Neurotransmission, Biology, metabolism [RNA, Messenger], General Biochemistry, Genetics and Molecular Biology, Actin-Related Protein 2-3 Complex, deficiency [Neoplasm Proteins], genetics [RNA, Messenger], 03 medical and health sciences, ultrastructure [Nerve Net], otorhinolaryngologic diseases, Animals, ddc:610, RNA, Messenger, Molecular Biology, Actin, 030304 developmental biology, genetics [Neoplasm Proteins], Cell Biology, Actin cytoskeleton, Actins, Mice, Inbred C57BL, physiology [Synaptic Transmission], ultrastructure [Synapses], Synapses, genetics [Microfilament Proteins], physiology [Synapses], Nerve Net, 030217 neurology & neurosurgery, Developmental Biology
وصف الملف: application/pdf
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المؤلفون: Katri Räikkönen, Myriam Fornage, Jianxin Shi, Najaf Amin, Dale R. Nyholt, Jordan W. Smoller, Tõnu Esko, Wei Zhao, Carsten Horn, Andres Metspalu, Harold Snieder, Enrique Castelao, Luigi Ferrucci, Catharina A. Hartman, Thomas G. Schulze, Stanley I. Shyn, Joanne M. Murabito, James B. Potash, Cathryn M. Lewis, Karestan C. Koenen, Azmeraw T. Amare, Jari Lahti, Stephan Ripke, Michele L. Pergadia, Cornelia M. van Duijn, Michael Conlon O'Donovan, Markus M. Nöthen, Grant C.B. Sinnamon, Rudolf Uher, Roy H. Perlis, Qingqin S. Li, Hans-Jörgen Grabe, Johannes H. Smit, Bernhard T. Baune, Donald J. MacIntyre, Erin C. Dunn, Alexander Teumer, Gonneke Willemsen, Nicholas G. Martin, Udo Dannlowski, Karin Hek, Shaun Purcell, Toni-Kim Clarke, Toshiko Tanaka, Jorge A. Quiroz, Myrna M. Weissman, Andrew M. McIntosh, Kathryn L. Lunetta, Scott D. Gordon, David R. Weir, Daniel Umbricht, Marcella Rietschel, Zoltán Kutalik, Stephanie Williams, Michael Gill, Albert Hofman, Enrico Domenici, Margarita Rivera, Pamela A. F. Madden, Jingyun Yang, John P. Rice, Sandra Van der Auwera, Steven P. Hamilton, Georg Homuth, David A. Bennett, Stefan Kloiber, Sharon L.R. Kardia, Anders D. Børglum, Sven Cichon, Nese Direk, Jessica D. Faul, Susanne Lucae, Dorret I. Boomsma, Douglas Blackwood, Jouke-Jan Hottenga, Marilyn C. Cornelis, Erin B. Ware, Enda M. Byrne, Andrew C. Heath, Philip L. De Jager, Ole Mors, Karl-Heinz Ladwig, Bertram Müller-Myhsok, Thomas H. Mosley, Jennifer A. Smith, Tracy Air, Yuri Milaneschi, Glyn Lewis, Brenda W.J.H. Penninx, David J. Llewellyn, Gerard van Grootheest, Eco J. C. de Geus, Henning Tiemeier, Grant W. Montgomery, Martin Preisig, Katherine E. Tansey, Patrick F. Sullivan, Douglas F. Levinson, Henriette N. Buttenschøn, Gerome Breen, Johan G. Eriksson, Ayse Demirkan
المساهمون: Psychiatry, Amsterdam Neuroscience - Complex Trait Genetics, APH - Mental Health, APH - Methodology, APH - Digital Health, Epidemiology, Child and Adolescent Psychiatry / Psychology, Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Life Course Epidemiology (LCE), Biological Psychology, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, APH - Health Behaviors & Chronic Diseases, APH - Personalized Medicine, Clinicum, Johan Eriksson / Principal Investigator, Department of General Practice and Primary Health Care, Medicum, Department of Psychology and Logopedics, Developmental Psychology Research Group
المصدر: Biological Psychiatry, 82(5), 322-329. Elsevier USA
Biological Psychiatry, 82(5), 322-329. Elsevier Inc.
Direk, N, Williams, S, Smith, J A, Ripke, S, Air, T, Amare, A T, Amin, N, Baune, B T, Bennett, D A, Blackwood, D H R, Boomsma, D, Breen, G, Buttenschøn, H N, Byrne, E M, Børglum, A D, Castelao, E, Cichon, S, Clarke, T-K, Cornelis, M C, Dannlowski, U, De Jager, P L, Demirkan, A, Domenici, E, van Duijn, C M, Dunn, E C, Eriksson, J G, Esko, T, Faul, J D, Ferrucci, L, Fornage, M, de Geus, E, Gill, M, Gordon, S D, Grabe, H-J, van Grootheest, G, Hamilton, S P, Hartman, C A, Heath, A C, Hek, K, Hofman, A, Homuth, G, Horn, C, Jan Hottenga, J, Kardia, S L R, Kloiber, S, Koenen, K, Kutalik, Z, Ladwig, K-H, Lahti, J, Levinson, D F, Lewis, C M, Lewis, G, Li, Q S, Llewellyn, D J, Lucae, S, Lunetta, K L, MacIntyre, D J, Madden, P A F, Martin, N G, McIntosh, A M, Metspalu, A, Milaneschi, Y, Montgomery, G W, Mors, O, Mosley, T H, Murabito, J M, Müller-Myhsok, B, Nöthen, M M, Nyholt, D R, O'Donovan, M C, Penninx, B W, Pergadia, M L, Perlis, R, Potash, J B, Preisig, M, Purcell, S M, Quiroz, J A, Räikkönen, K, Rice, J P, Rietschel, M, Rivera, M, Schulze, T G, Shi, J, Shyn, S I, Sinnamon, G C, Smit, J H, Smoller, J W, Snieder, H, Tanaka, T, Tansey, K E, Teumer, A, Uher, R, Umbricht, D, Van der Auwera, S, Ware, E B, Weir, D R, Weissman, M M, Willemsen, G, Yang, J, Zhao, W, Tiemeier, H & Sullivan, P F 2017, ' An Analysis of Two Genome-wide Association Meta-analyses Identifies a New Locus for Broad Depression Phenotype ', Biological Psychiatry, vol. 82, no. 5, pp. 322-329 . https://doi.org/10.1016/j.biopsych.2016.11.013
Biological psychiatry 82(5), 322-329 (2017). doi:10.1016/j.biopsych.2016.11.013
Biological Psychiatry, 82(5), 322-329. ELSEVIER SCIENCE INC
Direk, N, Williams, S, Smith, J A, Ripke, S, Air, T, Amare, A T, Amin, N, Baune, B T, Bennett, D A, Blackwood, D H R, Boomsma, D, Breen, G, Buttenschøn, H N, Byrne, E M, Børglum, A D, Castelao, E, Cichon, S, Clarke, T, Cornelis, M C, Dannlowski, U, De Jager, P L, Demirkan, A, Domenici, E, Van Duijn, C M, Dunn, E C, Eriksson, J G, Esko, T, Faul, J D, Ferrucci, L, Fornage, M, Geus, E D, Gill, M, Gordon, S D, Grabe, H J, Grootheest, G V, Hamilton, S P, Hartman, C A, Heath, A C, Hek, K, Hofman, A, Homuth, G, Horn, C, Hottenga, J J, Kardia, S L R, Kloiber, S, Koenen, K, Kutalik, Z, Ladwig, K, Lahti, J, Levinson, D F, Lewis, C M, Lewis, G, Li, Q S, Llewellyn, D J, Lucae, S, Lunetta, K L, Macintyre, D J, Madden, P, Martin, N G, Mcintosh, A M, Metspalu, A, Milaneschi, Y, Montgomery, G W, Mors, O, Mosley, T H, Murabito, J M, Müller-myhsok, B, Nöthen, M M, Nyholt, D R, O’donovan, M C, Penninx, B W, Pergadia, M L, Perlis, R, Potash, J B, Preisig, M, Purcell, S M, Quiroz, J A, Räikkönen, K, Rice, J P, Rietschel, M, Rivera, M, Schulze, T G, Shi, J, Shyn, S, Sinnamon, G C, Smit, J H, Smoller, J W, Snieder, H, Tanaka, T, Tansey, K E, Teumer, A, Uher, R, Umbricht, D, Der Auwera, S V, Ware, E B, Weir, D R, Weissman, M M, Willemsen, G, Yang, J, Zhao, W, Tiemeier, H & Sullivan, P F 2016, ' An Analysis of Two Genome-Wide Association Meta-Analyses Identifies a New Locus for Broad Depression Phenotype ', Biological Psychiatry . https://doi.org/10.1016/j.biopsych.2016.11.013
BIOLOGICAL PSYCHIATRY
Direk, N, Williams, S, Smith, J A, Ripke, S, Air, T, Amare, A T, Amin, N, Baune, B T, Bennett, D A, Blackwood, D H R, Boomsma, D, Breen, G, Buttenschøn, H N, Byrne, E M, Børglum, A D, Castelao, E, Cichon, S, Clarke, T-K, Cornelis, M C, Dannlowski, U, De Jager, P L, Demirkan, A, Domenici, E, van Duijn, C M, Dunn, E C, Eriksson, J G, Esko, T, Faul, J D, Ferrucci, L, Fornage, M, de Geus, E, Gill, M, Gordon, S D, Grabe, H J, van Grootheest, G, Hamilton, S P, Hartman, C A, Heath, A C, Hek, K, Hofman, A, Homuth, G, Horn, C, Jan Hottenga, J, Kardia, S L R, Kloiber, S, Koenen, K, Kutalik, Z, Ladwig, K-H, Lahti, J, Levinson, D F, Lewis, C M, Lewis, G, Li, Q S, Llewellyn, D J, Lucae, S, Lunetta, K L, MacIntyre, D J, Madden, P, Martin, N G, McIntosh, A M, Metspalu, A, Milaneschi, Y, Montgomery, G W, Mors, O, Mosley, T H, Murabito, J M, Müller-Myhsok, B, Nöthen, M M, Nyholt, D R, O'Donovan, M C, Penninx, B W, Pergadia, M L, Perlis, R, Potash, J B, Preisig, M, Purcell, S M, Quiroz, J A, Räikkönen, K, Rice, J P, Rietschel, M, Rivera, M, Schulze, T G, Shi, J, Shyn, S, Sinnamon, G C, Smit, J H, Smoller, J W, Snieder, H, Tanaka, T, Tansey, K E, Teumer, A, Uher, R, Umbricht, D, Van der Auwera, S, Ware, E B, Weir, D R, Weissman, M M, Willemsen, G, Yang, J, Zhao, W, Tiemeier, H & Sullivan, P F 2017, ' An Analysis of Two Genome-wide Association Meta-analyses Identifies a New Locus for Broad Depression Phenotype ', Biological Psychiatry, vol. 82, no. 5, pp. 322-329 . https://doi.org/10.1016/j.biopsych.2016.11.013
Direk, N, Williams, S, Smith, J A, Ripke, S, Air, T, Amare, A T, Amin, N, Baune, B T, Bennett, D A, Blackwood, D H R, Boomsma, D, Breen, G, Buttenschøn, H N, Byrne, E M, Børglum, A D, Castelao, E, Cichon, S, Clarke, T K, Cornelis, M C, Dannlowski, U, De Jager, P L, Demirkan, A, Domenici, E, van Duijn, C M, Dunn, E C, Eriksson, J G, Esko, T, Faul, J D, Ferrucci, L, Fornage, M, de Geus, E, Gill, M, Gordon, S D, Grabe, H J, van Grootheest, G, Hamilton, S P, Hartman, C A, Heath, A C, Hek, K, Hofman, A, Homuth, G, Horn, C, Jan Hottenga, J, Kardia, S L R, Kloiber, S, Koenen, K, Kutalik, Z, Ladwig, K H, Lahti, J, Levinson, D F, Lewis, C M, Lewis, G, Li, Q S, Llewellyn, D J, Lucae, S, Lunetta, K L, MacIntyre, D J, Madden, P, Martin, N G, McIntosh, A M, Metspalu, A, Milaneschi, Y, Montgomery, G W, Mors, O, Mosley, T H, Murabito, J M, Müller-Myhsok, B, Nöthen, M M, Nyholt, D R, O'Donovan, M C, Penninx, B W, Pergadia, M L, Perlis, R, Potash, J B, Preisig, M, Purcell, S M, Quiroz, J A, Räikkönen, K, Rice, J P, Rietschel, M, Rivera, M, Schulze, T G, Shi, J, Shyn, S, Sinnamon, G C, Smit, J H, Smoller, J W, Snieder, H, Tanaka, T, Tansey, K E, Teumer, A, Uher, R, Umbricht, D, Van der Auwera, S, Ware, E B, Weir, D R, Weissman, M M, Willemsen, G, Yang, J, Zhao, W, Tiemeier, H & Sullivan, P F 2017, ' An Analysis of Two Genome-wide Association Meta-analyses Identifies a New Locus for Broad Depression Phenotype ', Biological Psychiatry, vol. 82, no. 5, pp. 322-329 . https://doi.org/10.1016/j.biopsych.2016.11.013
Direk, N, Williams, S, Smith, J A, Ripke, S, Air, T, Amare, A T, Amin, N, Baune, B T, Bennett, D A, Blackwood, D H R, Boomsma, D, Breen, G, Buttenschøn, H N, Byrne, E M, Børglum, A D, Castelao, E, Cichon, S, Clarke, T-K, Cornelis, M C, Dannlowski, U, De Jager, P L, Demirkan, A, Domenici, E, van Duijn, C M, Dunn, E C, Eriksson, J G, Esko, T, Faul, J D, Ferrucci, L, Fornage, M, Geus, E D, Gill, M, Gordon, S D, Grabe, H J, Grootheest, G V, Hamilton, S P, Hartman, C A, Heath, A C, Hek, K, Hofman, A, Homuth, G, Horn, C, Hottenga, J J, Kardia, S L R, Kloiber, S, Koenen, K, Kutalik, Z, Ladwig, K-H, Lahti, J, Levinson, D F, Lewis, C M, Lewis, G, Li, Q S, Llewellyn, D J, Lucae, S, Lunetta, K L, MacIntyre, D J, Madden, P, Martin, N G, McIntosh, A M, Metspalu, A, Milaneschi, Y, Montgomery, G W, Mors, O, Mosley Jr, T H, Murabito, J M, Müller-Myhsok, B, Nöthen, M M, Nyholt, D R, O’Donovan, M C, Penninx, B W, Pergadia, M L, Perlis, R, Potash, J B, Preisig, M, Purcell, S M, Quiroz, J A, Räikkönen, K, Rice, J P, Rietschel, M, Rivera Sanchez, M, Schulze, T G, Shi, J, Shyn, S, Sinnamon, G C, Smit, J H, Smoller, J W, Snieder, H, Tanaka, T, Tansey, K E, Teumer, A, Uher, R, Umbricht, D, der Auwera, S V, Ware, E B, Weir, D R, Weissman, M M, Willemsen, G, Yang, J, Zhao, W, Tiemeier, H & Sullivan, P F 2016, ' An Analysis of Two Genome-Wide Association Meta-Analyses Identifies a New Locus for Broad Depression Phenotype ', Biological psychiatry . https://doi.org/10.1016/j.biopsych.2016.11.013مصطلحات موضوعية: DISORDER, Netherlands Twin Register (NTR), Linkage disequilibrium, SYMPTOMS, STRESS, CHARGE consortium, genetics [Depressive Disorder], Genome-wide association study, 3124 Neurology and psychiatry, 0302 clinical medicine, Neoplasm Proteins/genetics, MINOR DEPRESSION, European Continental Ancestry Group/genetics, POPULATION, RISK, Genetics, education.field_of_study, HERITABILITY, Depression, Depressive symptoms, Depression/genetics, Acid Anhydride Hydrolases, Neoplasm Proteins, 3. Good health, genetics [European Continental Ancestry Group], Phenotype, fragile histidine triad protein, Major depressive disorder, genetics [Depression], Psychology, 515 Psychology, Population, genetics [White People], Single-nucleotide polymorphism, Locus (genetics), White People, Psychiatric Genomics Consortium, FHIT gene, 03 medical and health sciences, SDG 3 - Good Health and Well-being, ddc:570, Depressive Disorder/genetics, NATIONAL COMORBIDITY SURVEY, medicine, Journal Article, Humans, SNP, genetics [Acid Anhydride Hydrolases], Genetic Predisposition to Disease, ddc:610, education, Biological Psychiatry, Genetic association, Depressive Disorder, genetics [Neoplasm Proteins], major depressive disorder, 3112 Neurosciences, MAJOR DEPRESSION, medicine.disease, SUBTHRESHOLD DEPRESSION, 030227 psychiatry, Acid Anhydride Hydrolases/genetics, Genetic Loci, 030217 neurology & neurosurgery, Genome-Wide Association Study
وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document
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9
المؤلفون: Helmut Fuchs, Miguel Torres, Lillian Garrett, Derek Spieler, Christine von Toerne, Darina Czamara, José Bessa, Melanie Waldenberger, Florian Giesert, Peter Lichtner, José Luis Gómez-Skarmeta, Melina Claussnitzer, Thomas Meitinger, Juliane Winkelmann, Helmut Laumen, Bertram Müller-Myhsok, Johannes Beckers, Sabine M. Hölter, Martin Klingenspor, Marion Horsch, Hyun-Ok Kate Lee, Martin Hrabé de Angelis, Wolfgang Wurst, Juan J. Tena, Barbara Schormair, Franziska Knauf, Jan Rozman, Valerie Gailus-Durner, Erik Tilch, Ronald Naumann, Fernando Casares, Christian Gieger, Nazanin Karbalai, Stefanie M. Hauck, Maria Kaffe
المساهمون: Fritz Thyssen Foundation, German Academic Exchange Service, Unión Europea. European Cooperation in Science and Technology (COST), Deutsche Forschungsgemeinschaft (Alemania), Helmholtz Zentrum München, Federal Ministry of Education & Research (Alemania), Ludwig-Maximilians-Universität München (Alemania), Ministerio de Ciencia e Innovación (España), Regional Government of Andalusia (España), Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF), Federal Ministry of Education and Research (Germany), German Research Center for Environmental Health, German Research Foundation, Israel Science Foundation, Technical University of Munich, Free State of Bavaria, Munich Center of Health Sciences, Ludwig Maximilians University Munich, Junta de Andalucía, German Center for Diabetes Research, Helmholtz Association
المصدر: Repisalud
Instituto de Salud Carlos III (ISCIII)
Genome Res. 24, 592-603 (2014)
Genome research 24(4), 592-603 (2014). doi:10.1101/gr.166751.113
GENOME RESEARCH
Digital.CSIC. Repositorio Institucional del CSIC
instnameمصطلحات موضوعية: Telencephalon, genetics [Homeodomain Proteins], Single-nucleotide polymorphism, Locus (genetics), Genome-wide association study, Polymorphism, Single Nucleotide, Basal Ganglia, Mice, pathology [Basal Ganglia], Restless Legs Syndrome, mental disorders, Genetics, SNP, Animals, Allele, Enhancer, Myeloid Ecotropic Viral Integration Site 1 Protein, Genetics (clinical), Alleles, Homeodomain Proteins, genetics [Neoplasm Proteins], biology, genetics [Restless Legs Syndrome], Research, metabolism [Basal Ganglia], growth & development [Telencephalon], Phenotype, Introns, Neoplasm Proteins, Disease Models, Animal, Enhancer Elements, Genetic, pathology [Telencephalon], ddc:540, biology.protein, CREB1, Meis1 protein, mouse, Genome-Wide Association Study
وصف الملف: application/pdf
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10
المؤلفون: Joel N. Meyer, Michael O. Hengartner, Simona Maida, Xue Zheng, Markus G. Manz, Carlo-Alberto Rossi, Daniele Bano, Moyin Shi, Jason M. Kinchen, Sérgio Morgado Pinto, Steffen Boettcher, Deni Subasic, Youjin Teo, Ataman Sendoel, Lilli Stergiou
المساهمون: University of Zurich, Hengartner, M O
المصدر: Nature cell biology 16(8), 812-820 (2014). doi:10.1038/ncb3010
Nat Cell Biol
Nature cell biologyمصطلحات موضوعية: metabolism [Caenorhabditis elegans Proteins], Apoptosis, Microtubules, Drug induced apoptosis, DEPDC1 protein, human, 1307 Cell Biology, RNA interference, EGL-1 protein, C elegans, Phosphorylation, LET-99 protein, C elegans, Genes, Helminth, media_common, Effector, genetics [Caenorhabditis elegans Proteins], GTPase-Activating Proteins, drug effects [Caenorhabditis elegans], drug effects [Genes, Helminth], metabolism [GTPase-Activating Proteins], 10124 Institute of Molecular Life Sciences, GTP-Binding Protein alpha Subunits, Tubulin Modulators, Cell biology, Neoplasm Proteins, Chemotherapy Drugs, Vincristine, metabolism [Neoplasm Proteins], MCL1 protein, human, MCF-7 Cells, genetics [GTPase-Activating Proteins], genetics [Caenorhabditis elegans], RNA Interference, medicine.drug, Signal Transduction, Drug, MAP Kinase Signaling System, media_common.quotation_subject, metabolism [Microtubules], 610 Medicine & health, pharmacology [Tubulin Modulators], Biology, drug effects [Apoptosis], metabolism [Myeloid Cell Leukemia Sequence 1 Protein], genetics [Signal Transduction], Evolution, Molecular, genetics [Microtubules], cytology [Caenorhabditis elegans], drug effects [Phosphorylation], ddc:570, pharmacology [Vincristine], medicine, Animals, Humans, Caenorhabditis elegans, Caenorhabditis elegans Proteins, genetics [Apoptosis], genetics [Neoplasm Proteins], drug effects [Proteolysis], Cell Biology, Ced-13 protein, C elegans, Repressor Proteins, genetics [Repressor Proteins], Tubulin, physiology [Apoptosis], metabolism [GTP-Binding Protein alpha Subunits], 10032 Clinic for Oncology and Hematology, Proteolysis, Mutation, biology.protein, 570 Life sciences, biology, Myeloid Cell Leukemia Sequence 1 Protein, HeLa Cells
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11Academic Journal
المؤلفون: Campa, D., Butterbach, K., Slager, S. L., Skibola, C. F., Sanjose, S., Benavente, Y., Becker, N., Foretova, L., Maynadie, M., Cocco, P., Staines, A., Kaaks, R., Boffetta, P., Brennan, P., Conde, L., Bracci, P. M., Caporaso, N. E., Strom, S. S., Camp, N. J., Cerhan, J. R., Consortium, G., Canzian, F., Nieters, A.
المساهمون: International Prevention Research Institute (IPRI), The Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai New York (MSSM)
المصدر: ISSN: 0020-7136.
مصطلحات موضوعية: ATP-Binding Cassette Transporters/*genetics *Genetic Predisposition to Disease Haplotypes Humans Lymphoma/classification/*genetics Multidrug Resistance-Associated Proteins/*genetics Neoplasm Proteins/*genetics P-Glycoprotein/*genetics *Polymorphism, Single Nucleotide Receptors, Steroid/*genetics Risk Factors, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie
Relation: hal-01262996; https://hal.archives-ouvertes.fr/hal-01262996
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12
المؤلفون: Rashi Halder, Roberto Carlos Agis-Balboa, Roman M. Stilling, Eva Benito-Garagorri, Susanne Burkhardt, Sanaz Bahari-Javan, Andrea Kranz, Adrian Francis Stewart, Andre Fischer, Cemil Kerimoglu
المصدر: RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)
The journal of neuroscience 33(8), 3452-3464 (2013). doi:10.1523/JNEUROSCI.3356-12.2013مصطلحات موضوعية: genetics [Neuronal Plasticity], Hippocampal formation, Hippocampus, physiology [Memory, Long-Term], memoria a largo plazo, Mice, 0302 clinical medicine, KMT2D protein, human, Histone methylation, Gene expression, physiology [Neuronal Plasticity], physiology [DNA-Binding Proteins], Mice, Knockout, 0303 health sciences, Neuronal Plasticity, General Neuroscience, deficiency [DNA-Binding Proteins], Articles, Chromatin, Neoplasm Proteins, DNA-Binding Proteins, Histone, Histone methyltransferase, physiology [Neoplasm Proteins], Histone Methyltransferases, genetics [Histone-Lysine N-Methyltransferase], Histona, histona-lisina N-metiltransferasa, Memory, Long-Term, Epigenetics in learning and memory, hipocampo, genetics [DNA-Binding Proteins], Mice, Transgenic, Biology, deficiency [Histone-Lysine N-Methyltransferase], deficiency [Neoplasm Proteins], 03 medical and health sciences, enzymology [Hippocampus], physiology [Maze Learning], plasticidad neuronal, Animals, ddc:610, Maze Learning, 030304 developmental biology, genetics [Neoplasm Proteins], Dentate gyrus, Histone-Lysine N-Methyltransferase, Molecular biology, Mice, Inbred C57BL, aprendizaje por laberinto, biology.protein, 030217 neurology & neurosurgery
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المؤلفون: Claudia Schulte, Erwin Schleicher, Daniela Berg, Stefanie Lerche, Ann-Kathrin Hauser, Isabel Wurster, Walter Maetzler, Arthur Melms, Anne Kathrin Stapf
المصدر: Journal of Alzheimer's disease 27(1), 119-126 (2011). doi:10.3233/JAD-2011-110587
مصطلحات موضوعية: complications [Lewy Body Disease], Male, SLC12A3 protein, human, Receptors, Drug, Glucose Transport Proteins, Facilitative, cerebrospinal fluid [Lewy Body Disease], chemistry.chemical_compound, Cerebrospinal fluid, genetics [Lewy Body Disease], Polymorphism (computer science), SLC2A9 protein, human, ATP Binding Cassette Transporter, Subfamily G, Member 2, genetics [Amyloid beta-Peptides], Solute Carrier Family 12, Member 3, ABCG2 protein, human, Cognitive decline, genetics [Glucose Transport Proteins, Facilitative], Aged, 80 and over, Symporters, General Neuroscience, General Medicine, Middle Aged, amyloid beta-protein (1-42), Neoplasm Proteins, Psychiatry and Mental health, Clinical Psychology, genetics [Receptors, Drug], Disease Progression, Female, blood [Uric Acid], cerebrospinal fluid [Uric Acid], hormones, hormone substitutes, and hormone antagonists, Lewy Body Disease, medicine.medical_specialty, Single-nucleotide polymorphism, tau Proteins, Polymorphism, Single Nucleotide, Internal medicine, medicine, Dementia, Humans, ddc:610, Aged, genetics [Neoplasm Proteins], Amyloid beta-Peptides, Lewy body, Dementia with Lewy bodies, business.industry, blood [Lewy Body Disease], etiology [Cognition Disorders], medicine.disease, genetics [Peptide Fragments], genetics [Symporters], Peptide Fragments, Uric Acid, genetics [tau Proteins], Endocrinology, chemistry, Uric acid, ATP-Binding Cassette Transporters, genetics [ATP-Binding Cassette Transporters], Geriatrics and Gerontology, business, Cognition Disorders, Mental Status Schedule
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14Academic Journal
المؤلفون: Barvaux, Vincent A., Ranson, Malcolm, Brown, Robert, McElhinney, R. Stanley, McMurry, T. Brian H, Margison, Geoffrey P.
المصدر: Barvaux , V A , Ranson , M , Brown , R , McElhinney , R S , McMurry , T B H & Margison , G P 2004 , ' Dual repair modulation reverses Temozolomide resistance in vitro ' , Molecular Cancer Therapeutics , vol. 3 , no. 2 , pp. 123-127 .
مصطلحات موضوعية: drug effects: Base Pair Mismatch, Cell Line, Tumor, drug effects: DNA Damage, DNA Repair, analogs & derivatives: Dacarbazine, Drug Resistance, analogs & derivatives: Guanine, Humans, genetics: Neoplasm Proteins, deficiency: O(6)-Methylguanine-DNA Methyltransferase, Research Support, Non-U.S. Gov't
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15Academic Journal
المؤلفون: Munier, Francis L., Frueh, Beatrice E., Othenin-Girard, Philippe, Uffer, Sylvie, Cousin, Pascal, Wang, Ming X., Héon, Elise, Black, Graeme C M, Blasi, Maria A., Balestrazzi, Emilio, Lorenz, Birgit, Escoto, Rafael, Barraquer, Rafael, Hoeltzenbein, Maria, Gloor, Balder, Fossarello, Maurizio, Singh, Arun D., Arsenijevic, Yvan, Zografos, Léonidas, Schorderet, Daniel F.
المصدر: Munier , F L , Frueh , B E , Othenin-Girard , P , Uffer , S , Cousin , P , Wang , M X , Héon , E , Black , G C M , Blasi , M A , Balestrazzi , E , Lorenz , B , Escoto , R , Barraquer , R , Hoeltzenbein , M , Gloor , B , Fossarello , M , Singh , A D , Arsenijevic , Y , Zografos , L & Schorderet , D F 2002 , ' BIGH3 mutation spectrum in corneal dystrophies ' , Investigative ....
مصطلحات موضوعية: Amino Acid Sequence, genetics: Chromosomes, Human, Pair 5, genetics: Corneal Dystrophies, Hereditary, DNA Mutational Analysis, chemistry: DNA Primers, Extracellular Matrix Proteins, Genotype, Humans, Linkage (Genetics), Molecular Sequence Data, Mutation, genetics: Neoplasm Proteins, Phenotype, Polymorphism, Single-Stranded Conformational, Research Support, Non-U.S. Gov't, genetics: Transforming Growth Factor beta
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16Academic Journal
المؤلفون: Scott, H. S., Kudoh, J., Wattenhofer, M., Shibuya, K., Berry, A., Chrast, R., Guipponi, M., Wang, J., Kawasaki, K., Asakawa, S., Minoshima, S., Younus, F., Mehdi, S. Q., Radhakrishna, U., Papasavvas, M. P., Gehrig, C., Rossier, C., Korostishevsky, M., Gal, A., Shimizu, N., Bonne-Tamir, B., Antonarakis, S. E.
المصدر: Nature Genetics, vol. 27, no. 1, pp. 59-63
مصطلحات موضوعية: Adult Age of Onset Base Sequence Child Consanguinity Contig Mapping DNA Mutational Analysis DNA, Satellite/*genetics Deafness/*congenital/*enzymology/epidemiology/genetics Exons/genetics Female Frameshift Mutation/genetics Genes, Recessive/*genetics Humans In Situ Hybridization, Fluorescence Israel Male *Membrane Proteins Molecular Sequence Data Mutagenesis, Insertional/*genetics *Neoplasm Proteins Pakistan Pedigree RNA Splice Sites/genetics RNA, Messenger/analysis/genetics Sequence Alignment Serine Endopeptidases/*genetics/metabolism
Relation: info:eu-repo/semantics/altIdentifier/pmid/11137999; info:eu-repo/semantics/altIdentifier/pissn/1061-4036; https://serval.unil.ch/notice/serval:BIB_FB38D52EDAAA
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17Academic Journal
المؤلفون: Rimoldi, D., Salvi, S., Reed, D., Coulie, P., Jongeneel, V. C., De Plaen, E., Brasseur, F., Rodriguez, A. M., Boon, T., Cerottini, J. C.
المصدر: International Journal of Cancer, vol. 82, no. 6, pp. 901-7
مصطلحات موضوعية: Antibodies, Monoclonal Antigens, Neoplasm/*genetics Blotting, Northern Cloning, Molecular DNA, Complementary Female Gene Library Humans Introns Male Melanoma/*genetics Neoplasm Proteins/chemistry/*genetics/metabolism Organ Specificity Polymerase Chain Reaction Protein Biosynthesis Recombinant Proteins/biosynthesis/chemistry/metabolism Transcription, Genetic Transfection
Relation: info:eu-repo/semantics/altIdentifier/pmid/10446460; info:eu-repo/semantics/altIdentifier/pissn/0020-7136; https://serval.unil.ch/notice/serval:BIB_8757850ADF29
الاتاحة: https://serval.unil.ch/notice/serval:BIB_8757850ADF29
https://doi.org/10.1002/(SICI)1097-0215(19990909)82:6<901::AID-IJC21>3.0.CO;2-X -
18Academic Journal
المؤلفون: Jeanteur, P.
المساهمون: Institut de Génétique Moléculaire de Montpellier (IGMM), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)
المصدر: ISSN: 0007-4551.
مصطلحات موضوعية: Acute/*drug therapy/*enzymology/genetics Neoplasm Proteins/*metabolism Oncogene Proteins, Antineoplastic Agents/therapeutic use Histone Deacetylases/*metabolism Humans Leukemia, Fusion/*metabolism Tretinoin/therapeutic use, Promyelocytic, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology
الاتاحة: https://hal.science/hal-02195851