المؤلفون: Fazal, Sarah, Danzi, Matt C, Adams, David R, van Karnebeek, Clara D M, Ferreira, Carlos R, D'Sousa, Precilla, Network, Undiagnosed Diseases, Tekin, Mustafa, Züchner, Stephan, Synofzik, Matthis, van Kuilenburg, André B P, Reich, Selina, Traschuetz, Andreas, Bender, Benjamin, Leen, René, Toro, Camilo, Usdin, Karen, Hayward, Bruce

المصدر: Human molecular genetics 32(1), 46-54 (2023). doi:10.1093/hmg/ddac173

مصطلحات موضوعية: info:eu-repo/classification/ddc/570, Humans, 5' Untranslated Regions, Ataxia: diagnosis, Ataxia: genetics, Glutaminase: genetics

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:35913761; info:eu-repo/semantics/altIdentifier/issn/0964-6906; info:eu-repo/semantics/altIdentifier/issn/1460-2083; https://pub.dzne.de/record/165153Test; https://pub.dzne.de/search?p=id:%22DZNE-2022-01458%22Test

الإتاحة: https://doi.org/10.1093/hmg/ddac173Test
https://pub.dzne.de/record/165153Test
https://pub.dzne.de/search?p=id:%22DZNE-2022-01458%22Test

المؤلفون: Sarah Fazal, Matt C Danzi, André B P van Kuilenburg, Selina Reich, Andreas Traschütz, Benjamin Bender, René Leen, Camilo Toro, Karen Usdin, Bruce Hayward, David R Adams, Clara D M van Karnebeek, Carlos R Ferreira, Precilla D’Sousa, Undiagnosed Diseases Network, Mustafa Tekin, Stephan Züchner, Matthis Synofzik

المساهمون: Laboratory Genetic Metabolic Diseases, CCA - Cancer biology and immunology, CCA - Imaging and biomarkers, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, AII - Cancer immunology, Paediatrics, Paediatric Metabolic Diseases, Paediatric Pulmonology, APH - Personalized Medicine, ANS - Cellular & Molecular Mechanisms

المصدر: Human molecular genetics 32(1), 46-54 (2023). doi:10.1093/hmg/ddac173
Human molecular genetics, 32(1), 46-54. Oxford University Press

مصطلحات موضوعية: Ataxia/diagnosis, ddc:570, Proteins/genetics, Genetics, Humans, General Medicine, diagnosis [Ataxia], genetics [Ataxia], 5' Untranslated Regions, genetics [Glutaminase], Molecular Biology, Glutaminase/genetics, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de019e5e3fcd9c31a84a5673f0719a6cTest

المؤلفون: Scott, William K., Medie, Felix Mba, Ruffin, Felicia, Sharma-Kuinkel, Batu K., Cyr, Derek D., Guo, Shengru, Dykxhoorn, Derek M., Skov, Robert L., Bruun, Niels E., Dahl, Anders, Lerche, Christian J., Petersen, Andreas, Larsen, Anders Rhod, Lauridsen, Trine Kiilerich, Johansen, Helle Krogh, Ullum, Henrik, Sørensen, Erik, Hassager, Christian, Bundgaard, Henning, Schønheyder, Henrik C., Torp-Pedersen, Christian, Østergaard, Louise Bruun, Arpi, Magnus, Rosenvinge, Flemming, Erikstrup, Lise T., Chehri, Mahtab, Søgaard, Peter, Andersen, Paal S., Fowler, Vance G.

المصدر: Scott , W K , Medie , F M , Ruffin , F , Sharma-Kuinkel , B K , Cyr , D D , Guo , S , Dykxhoorn , D M , Skov , R L , Bruun , N E , Dahl , A , Lerche , C J , Petersen , A , Larsen , A R , Lauridsen , T K , Johansen , H K , Ullum , H , Sørensen , E , Hassager , C , Bundgaard , H , Schønheyder , H C , Torp-Pedersen , C , Østergaard , L ....

مصطلحات موضوعية: Adolescent, Adult, Aged, 80 and over, Alleles, Animals, Bacteremia, Female, Gene Frequency/genetics, Genetic Variation/genetics, Glutaminase/genetics, Humans, Male, Mice, Middle Aged, RAW 264.7 Cells, Risk Factors, Staphylococcal Infections/genetics, Staphylococcus aureus/pathogenicity, Transcriptome/genetics, Whole Exome Sequencing/methods

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/482234e6-53fa-48a2-ae06-b143e44c59eaTest

الإتاحة: https://doi.org/10.1371/journal.pgen.1007667Test
https://portal.findresearcher.sdu.dk/da/publications/482234e6-53fa-48a2-ae06-b143e44c59eaTest
https://findresearcher.sdu.dk/ws/files/143627794/Human_genetic_variation_in_GLS2_is_associated_with_development_of_complicated_Staphylococcus_aureus_bacteremia.pdfTest

المؤلفون: Campos-Sandoval, José A, Martin-Rufiàn, Mercedes, Màrquez, Javier

المساهمون: Canceromics lab, Departamento de Biologia molecular y Bioquimica, Facultad de CIENCIAS, University of Malaga, 29071 Malaga, Spain

مصطلحات موضوعية: GLS2, Genes Section, Brain/metabolism, Brain Neoplasms/*genetics, Cell Line, Tumor, CpG Islands, DNA Methylation, Down-Regulation, Epigenesis, Genetic, Gene Expression Regulation, Neoplastic, Genes, p53, Glioblastoma/*genetics, Glutaminase/*genetics, Humans, Point Mutation, Promoter Regions, Tumor Suppressor Protein p53/*genetics, Antioxidants/metabolism, Apoptosis/drug effects, Arsenicals/pharmacology, BH3 Interacting Domain Death Agonist Protein/metabolism, Brain Neoplasms/*enzymology/pathology, Cell Movement/drug effects

العلاقة: Atlas of Genetics and Cytogenetics in Oncology and Haematology; http://AtlasGeneticsOncology.org/Genes/GLS2ID46328ch12q13.htmlTest; José A, Campos-Sandoval; Mercedes, Martin-Rufiàn; Javier, Màrquez. GLS2 (Glutaminase 2). Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2016, 8, p. 445-447; http://hdl.handle.net/2042/66064Test; https://doi.org/10.4267/2042/66064Test

الإتاحة: https://doi.org/10.4267/2042/66064Test
http://hdl.handle.net/2042/66064Test

المؤلفون: Peter Søgaard, Felicia Ruffin, Henrik Ullum, Christian Johann Lerche, Lise Tornvig Erikstrup, Andreas Petersen, Robert Skov, Louise Bruun Østergaard, William K. Scott, Shengru Guo, Niels Eske Bruun, Paal Skytt Andersen, Anders Rhod Larsen, Mahtab Chehri, Henrik Carl Schønheyder, Christian Torp-Pedersen, Magnus Arpi, Felix Mba Medie, Christian Hassager, Batu K. Sharma-Kuinkel, Derek D. Cyr, Helle Krogh Johansen, Henning Bundgaard, Derek M. Dykxhoorn, Vance G. Fowler, Flemming S Rosenvinge, Trine K. Lauridsen, Erik Sørensen, Anders Dahl

المصدر: Scott, W K, Medie, F M, Ruffin, F, Sharma-Kuinkel, B K, Cyr, D D, Guo, S, Dykxhoorn, D M, Skov, R L, Bruun, N E, Dahl, A, Lerche, C J, Petersen, A, Larsen, A R, Lauridsen, T K, Johansen, H K, Ullum, H, Sørensen, E, Hassager, C, Bundgaard, H, Schønheyder, H C, Torp-Pedersen, C, Østergaard, L B, Arpi, M, Rosenvinge, F, Erikstrup, L T, Chehri, M, Søgaard, P, Andersen, P S & Fowler, V G 2018, ' Human genetic variation in GLS2 is associated with development of complicated Staphylococcus aureus bacteremia ', PLOS Genetics, vol. 14, no. 10, e1007667 . https://doi.org/10.1371/journal.pgen.1007667Test
PLoS Genetics, Vol 14, Iss 10, p e1007667 (2018)
Scott, W K, Medie, F M, Ruffin, F, Sharma-Kuinkel, B K, Cyr, D D, Guo, S, Dykxhoorn, D M, Skov, R L, Bruun, N E, Dahl, A, Lerche, C J, Petersen, A, Larsen, A R, Lauridsen, T K, Johansen, H K, Ullum, H, Sørensen, E, Hassager, C, Bundgaard, H, Schønheyder, H C, Torp-Pedersen, C, Østergaard, L B, Arpi, M, Rosenvinge, F, Erikstrup, L T, Chehri, M, Søgaard, P, Andersen, P S & Fowler, V G 2018, ' Human genetic variation in GLS2 is associated with development of complicated Staphylococcus aureus bacteremia ', P L o S Genetics, vol. 14, no. 10, e1007667, pp. 1-22 . https://doi.org/10.1371/journal.pgen.1007667Test
Scott, W K, Medie, F M, Ruffin, F, Sharma-Kuinkel, B K, Cyr, D D, Guo, S, Dykxhoorn, D M, Skov, R L, Bruun, N E, Dahl, A, Lerche, C J, Petersen, A, Larsen, A R, Lauridsen, T K, Johansen, H K, Ullum, H, Sørensen, E, Hassager, C, Bundgaard, H, Schønheyder, H C, Torp-Pedersen, C, Østergaard, L B, Arpi, M, Rosenvinge, F, Erikstrup, L T, Chehri, M, Søgaard, P, Andersen, P S & Fowler, V G 2018, ' Human genetic variation in GLS2 is associated with development of complicated Staphylococcus aureus bacteremia ', PLOS Genetics, vol. 14, no. 10, pp. e1007667 . https://doi.org/10.1371/journal.pgen.1007667Test
PLoS Genetics

مصطلحات موضوعية: Bacterial Diseases, 0301 basic medicine, Male, Cancer Research, Candidate gene, Microarray, Whole Exome Sequencing/methods, Staphylococcus, Test Statistics, Gene Expression, Bacteremia, Pathology and Laboratory Medicine, medicine.disease_cause, Biochemistry, White Blood Cells, Mice, Mathematical and Statistical Techniques, Gene Frequency, Animal Cells, Risk Factors, Gene expression, Medicine and Health Sciences, Staphylococcus Aureus, Genetics (clinical), Exome sequencing, Genetics, Aged, 80 and over, Staphylococcal Infections/genetics, Statistics, Neurochemistry, Hematology, Staphylococcal Infections, Middle Aged, Transcriptome/genetics, Glutaminase/genetics, Bacterial Pathogens, 3. Good health, Infectious Diseases, Gene Frequency/genetics, Genetic Variation/genetics, Medical Microbiology, Staphylococcus aureus, Physical Sciences, Female, Pathogens, Cellular Types, Neurochemicals, Research Article, Statistical Distributions, Adult, lcsh:QH426-470, Adolescent, Immune Cells, Immunology, 030106 microbiology, Biology, Research and Analysis Methods, Nitric Oxide, Microbiology, 03 medical and health sciences, Glutaminase, Exome Sequencing, Genetic variation, medicine, Staphylococcus aureus/pathogenicity, Animals, Humans, Statistical Methods, Microbial Pathogens, Molecular Biology, Gene, Ecology, Evolution, Behavior and Systematics, Alleles, Aged, Blood Cells, Bacteria, Macrophages, Organisms, Biology and Life Sciences, Genetic Variation, Bloodstream Infections, Cell Biology, Probability Theory, Minor allele frequency, lcsh:Genetics, 030104 developmental biology, RAW 264.7 Cells, Transcriptome, Mathematics, Neuroscience

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb5ccff6f4aef58e11e54798d7557bf9Test
https://vbn.aau.dk/da/publications/3fa53501-35a0-41b8-bac1-044c6b7b80cfTest

المؤلفون: Gijs van Haaften, Nanda M. Verhoeven-Duif, Marjo S. van der Knaap, Holger Rehmann, Graeme C.M. Black, Jeroen Bakkers, Lynne Rumping, Peter M. van Hasselt, Hester Y. Kroes, Ruben Ramos, Tobias B. Dansen, Hubertus C.M.T. Prinsen, Sanne M C Savelberg, Judith J.M. Jans, Dennis W. J. Klomp, Rachel L. Taylor, Alex A. Bhogal, Esmee Vringer, Federico Tessadori, Jannie P. Wijnen, Peter A W J F Schellekens, Mark J.G. Bakkers, Fried J. T. Zwartkruis, Petra J. W. Pouwels, Roderick H. J. Houwen, Karen Duran

المساهمون: ARD - Amsterdam Reproduction and Development, Hubrecht Institute for Developmental Biology and Stem Cell Research, Radiology and nuclear medicine, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Reproduction & Development (AR&D), Pediatric surgery

المصدر: Taylor, R L & Black, G 2019, ' GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay ', Human Molecular Genetics, vol. 28, no. 1, pp. 96-104 . https://doi.org/10.1093/hmg/ddy330Test
Rumping, L, Tessadori, F, Pouwels, P J W, Vringer, E, Wijnen, J P, Bhogal, A A, Savelberg, S M C, Duran, K J, Bakkers, M J G, Ramos, R B J J, Schellekens, P A W, Kroes, H Y, Klomp, D W J, Black, G C M, Taylor, R L, Bakkers, J P W, Prinsen, H C M T, van der Knaap, M S, Dansen, T B, Rehmann, H, Zwartkruis, F J T, Houwen, R H J, van Haaften, G, Verhoeven-Duif, N M, Jans, J J M & van Hasselt, P M 2019, ' GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay ', Human Molecular Genetics, vol. 28, no. 1, pp. 96-104 . https://doi.org/10.1093/hmg/ddy330Test
Human molecular genetics, 28(1), 96-104. Oxford University Press
Human Molecular Genetics. Oxford University Press
Human Molecular Genetics, 28(1), 96-104. Oxford University Press
Human Molecular Genetics, 28(1), 96. Oxford University Press

مصطلحات موضوعية: Male, GLS, Developmental Disabilities, Glutamine, medicine.disease_cause, loss-of-function, Glutamate homeostasis, Genetics(clinical), Child, Genetics (clinical), Zebrafish, 0303 health sciences, Glutaminase, 030305 genetics & heredity, Glutamate receptor, Brain, General Medicine, Cataract/genetics, Glutaminase/genetics, Glutamic Acid/genetics, Glutamine/metabolism, cataract, Gain of Function Mutation, Child, Preschool, Female, medicine.medical_specialty, Gain of Function Mutation/genetics, Adolescent, Glutamic Acid, Biology, Cataract, Glutamine synthetase, 03 medical and health sciences, Downregulation and upregulation, Glutamate-Ammonia Ligase, Reactive Oxygen Species/metabolism, Internal medicine, medicine, Glutamate-Ammonia Ligase/genetics, Genetics, Animals, Brain/metabolism, Humans, Gain-of-function, Preschool, Molecular Biology, Animal, Neurotoxicity, Fibroblasts, medicine.disease, Disease Models, Animal, Oxidative Stress, Endocrinology, HEK293 Cells, Disease Models, Reactive Oxygen Species, Oxidative stress, Developmental Disabilities/genetics

وصف الملف: application/pdf; image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efa4edf932c3eefca85db219883f75f1Test
https://doi.org/10.1093/hmg/ddy330Test