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590 results for Mevalonate+kinase

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ArticlesPeer ReviewedFull Text
Classification criteria for autoinflammatory recurrent fevers
Author / Creator:Gattorno, Marco ; Hofer, Michael ; Federici, Silvia ; Vanoni, Federica ; Bovis, Francesca ; Aksentijevich, Ivona ; Anton, Jordi ; Arostegui, Juan Ignacio ; Barron, Karyl ; Ben-Cherit, Eldad ; Brogan, Paul A ; Cantarini, Luca ; Ceccherini, Isabella ; De Benedetti, Fabrizio ; Dedeoglu, Fatma ; Demirkaya, Erkan ; Frenkel, Joost ; Goldbach-Mansky, Raphaela ; Gul, Ahmet ; Hentgen, Veronique ; Hoffman, Hal ; Kallinich, Tilmann ; Kone-Paut, Isabelle ; Kuemmerle-Deschner, Jasmin ; Lachmann, Helen J ; Laxer, Ronald M ; Livneh, Avi ; Obici, Laura ; Ozen, Seza ; Rowczenio, Dorota ; Russo, Ricardo ; Shinar, Yael ; Simon, Anna ; Toplak, Nataša ; Touitou, Isabelle ; Uziel, Yosef ; van Gijn, Marielle ; Foell, Dirk ; Garassino, Claudia ; Kastner, Dan ; Martini, Alberto ; Sormani, Maria Pia ; Ruperto, Nicolino
Publisher:England: BMJ Publishing Group Ltd and European League Against Rheumatism
Journal title:Annals of the rheumatic diseases, 2019-08, Vol.78 (8), p.1025-1032
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Mevalonate Kinase Deficiency: A Cause of Severe Very-Early-Onset Inflammatory Bowel Disease
Author / Creator:Bader-Meunier, Brigitte ; Martins, Andreia Luís ; Charbit-Henrion, Fabienne ; Meinzer, Ulrich ; Belot, Alexandre ; Cuisset, Laurence ; Faye, Albert ; Georgin-Lavialle, Sophie ; Quartier, Pierre ; Remy-Piccolo, Vanessa ; Ruemmele, Frank ; Uettwiller, Florence ; Viala, Jérôme ; Cerf Bensussan, Nadine ; Berrebi, Dominique ; Melki, Isabelle
Publisher:US: Oxford University Press
Journal title:Inflammatory bowel diseases, 2021-11, Vol.27 (11), p.1853-1857
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On-demand anakinra treatment is effective in mevalonate kinase deficiency
Author / Creator:Bodar, E J ; Kuijk, L M ; Drenth, J P H ; van der Meer, J W M ; Simon, A ; Frenkel, J
Publisher:London: BMJ Publishing Group Ltd and European League Against Rheumatism
Journal title:Annals of the rheumatic diseases, 2011-12, Vol.70 (12), p.2155-2158
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Mevalonate kinase deficiency: current perspectives
Author / Creator:Schulert, Grant ; Favier, Leslie
Publisher:New Zealand: Dove Medical Press Limited
Journal title:Application of clinical genetics, 2016-01, Vol.9, p.101-110
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411 Periodic fever – unusual cause of Mevalonate kinase deficiency
Author / Creator:Awan, Irum ; Sridhar, Arani
Publisher:London: BMJ Publishing Group LTD
Journal title:Archives of disease in childhood, 2023-07, Vol.108 (Suppl 2), p.A240-A241
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Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome
Author / Creator:Govindaraj, Geeta Madathil ; Jain, Abhinav ; Peethambaran, Geetha ; Bhoyar, Rahul C. ; Vellarikkal, Shamsudheen Karuthedath ; Ganapati, Arvind ; Sandhya, Pulukool ; Edavazhippurath, Athulya ; Dhanasooraj, Dhananjayan ; Puthenpurayil, Jayakrishnan Machinary ; Chakkiyar, Krishnan ; Mishra, Anushree ; Batra, Arushi ; Punnen, Anu ; Kumar, Sathish ; Sivasubbu, Sridhar ; Scaria, Vinod
Publisher:San Francisco: Public Library of Science
Journal title:PloS one, 2020-08, Vol.15 (8), p.e0237999
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ArticlesPeer ReviewedFull Text
Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes
Author / Creator:De Benedetti, Fabrizio ; Gattorno, Marco ; Anton, Jordi ; Ben-Chetrit, Eldad ; Frenkel, Joost ; Hoffman, Hal M ; Koné-Paut, Isabelle ; Lachmann, Helen J ; Ozen, Seza ; Simon, Anna ; Zeft, Andrew ; Calvo Penades, Inmaculada ; Moutschen, Michel ; Quartier, Pierre ; Kasapcopur, Ozgur ; Shcherbina, Anna ; Hofer, Michael ; Hashkes, Philip J ; Van der Hilst, Jeroen ; Hara, Ryoki ; Bujan-Rivas, Segundo ; Constantin, Tamas ; Gul, Ahmet ; Livneh, Avi ; Brogan, Paul ; Cattalini, Marco ; Obici, Laura ; Lheritier, Karine ; Speziale, Antonio ; Junge, Guido
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2018-05, Vol.378 (20), p.1908-1919
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Increased core body temperature exacerbates defective protein prenylation in mouse models of mevalonate kinase deficiency
Author / Creator:Munoz, Marcia A. ; Skinner, Oliver P. ; Masle-Farquhar, Etienne ; Jurczyluk, Julie ; Xiao, Ya ; Fletcher, Emma K. ; Kristianto, Esther ; Hodson, Mark P. ; O’Donoghue, Seán I. ; Kaur, Sandeep ; Brink, Robert ; Zahra, David G. ; Deenick, Elissa K. ; Perry, Kristen A. ; Robertson, Avril A.B. ; Mehr, Sam ; Hissaria, Pravin ; Mulders-Manders, Catharina M. ; Simon, Anna ; Rogers, Michael J.
Publisher:Ann Arbor: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2022-10, Vol.132 (19), p.1-16
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The 2021 EULAR/American College of Rheumatology points to consider for diagnosis, management and monitoring of the interleukin-1 mediated autoinflammatory diseases: cryopyrin-associated periodic syndr...
Author / Creator:Romano, Micol ; Arici, Z Serap ; Piskin, David ; Alehashemi, Sara ; Aletaha, Daniel ; Barron, Karyl S ; Benseler, Susanne ; Berard, Roberta ; Broderick, Lori ; Dedeoglu, Fatma ; Diebold, Michelle ; Durrant, Karen L ; Ferguson, Polly ; Foell, Dirk ; Hausmann, Jonathan ; Jones, Olcay Y ; Kastner, Daniel L ; Lachmann, Helen J ; Laxer, Ronald M ; Rivera, Dorelia ; Ruperto, Nicolino ; Simon, Anna ; Twilt, Marinka ; Frenkel, Joost ; Hoffman, Hal ; de Jesus, Adriana A ; Kuemmerle-Deschner, Jasmin Beate ; Ozen, Seza ; Gattorno, Marco ; Goldbach-Mansky, Raphaela ; Demirkaya, Erkan
Publisher:England: BMJ Publishing Group Ltd and European League Against Rheumatism
Journal title:Annals of the rheumatic diseases, 2022-07, Vol.81 (7), p.907-921
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Spectrum of clinical features and genetic variants in mevalonate kinase
Author / Creator:Govindaraj, Geeta Madathil ; Jain, Abhinav ; Peethambaran, Geetha ; Bhoyar, Rahul C ; Vellarikkal, Shamsudheen Karuthedath ; Ganapati, Arvind ; Sandhya, Pulukool ; Edavazhippurath, Athulya ; Dhanasooraj, Dhananjayan ; Puthenpurayil, Jayakrishnan Machinary ; Chakkiyar, Krishnan ; Mishra, Anushree ; Batra, Arushi ; Punnen, Anu ; Kumar, Sathish ; Sivasubbu, Sridhar ; Scaria, Vinod
Publisher:Public Library of Science
Journal title:PloS one, 2020-08, Vol.15 (8), p.e0237999
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ArticlesPeer ReviewedFull Text
Mevalonate kinase deficiency leads to decreased prenylation of Rab GTPases
Author / Creator:Jurczyluk, Julie ; Munoz, Marcia A ; Skinner, Oliver P ; Chai, Ryan C ; Ali, Naveid ; Palendira, Umaimainthan ; Quinn, Julian MW ; Preston, Alexandra ; Tangye, Stuart G ; Brown, Andrew J ; Argent, Elizabeth ; Ziegler, John B ; Mehr, Sam ; Rogers, Michael J
Publisher:England: Nature Publishing Group
Journal title:Immunology and cell biology, 2016-11, Vol.94 (10), p.994-999
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ArticlesPeer ReviewedFull Text
Mevalonate Kinase-Associated Diseases: Hunting for Phenotype–Genotype Correlation
Author / Creator:Boursier, Guilaine ; Rittore, Cécile ; Milhavet, Florian ; Cuisset, Laurence ; Touitou, Isabelle
Publisher:Switzerland: MDPI AG
Journal title:Journal of clinical medicine, 2021-04, Vol.10 (8), p.1552
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Mechanistic insight into the role of mevalonate kinase by a natural fatty acid-mediated killing of Leishmania donovani
Author / Creator:Prasad, Surendra Rajit ; Kumar, Prakash ; Mandal, Saptarshi ; Mohan, Anu ; Chaurasia, Radhika ; Shrivastava, Ashish ; Nikhil, Pallaprolu ; Aishwarya, Dande ; Ramalingam, P. ; Gajbhiye, Rahul ; Singh, Shriya ; Dasgupta, Arunava ; Chourasia, Mukesh ; Ravichandiran, V. ; Das, Prolay ; Mandal, Debabrata
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2022-09, Vol.12 (1), p.16453-19, Article 16453
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Mevalonate Kinase Deficiency as A Cause of Periodic Fever- A Report of Two Cases
Author / Creator:Pinnam, Hema Sameera ; Mamadapur, Mahabaleshwar ; Mahadevan, Sabarinath ; Pragya, Varuni
Publisher:Jammu: JK Science, Journal of Medical Education & Research
Journal title:JK science : journal of medical education and research, 2024-07, Vol.26 (3), p.190-192
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Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?
Author / Creator:Mulders-Manders, C. M. ; Simon, A.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Seminars in immunopathology, 2015-07, Vol.37 (4), p.371-376
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Structural Characterization and Functional Analysis of Mevalonate Kinase from Tribolium castaneum (Red Flour Beetle)
Author / Creator:Zheng, Haogang ; Yang, Yuanyuan ; Hu, Ying ; Shi, Jiaxuan ; Li, Qiaohui ; Wang, Yuanqiang ; Xia, Qingyou ; Guo, Pengchao
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-02, Vol.25 (5), p.2552
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Isolated neurological presentations of mevalonate kinase deficiency
Author / Creator:Hoytema van Konijnenburg, Eva M. M. ; Oussoren, Esmeralda ; Frenkel, Joost ; van Hasselt, Peter M.
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2023-01, Vol.64 (1), p.53-56
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Cloning and expression analysis of mevalonate kinase and phosphomevalonate kinase genes associated with the MVA pathway in Santalum album
Author / Creator:Niu, Meiyun ; Xiong, Yuping ; Yan, Haifeng ; Zhang, Xinhua ; Li, Yuan ; da Silva, Jaime A. Teixeira ; Ma, Guohua
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2021-08, Vol.11 (1), p.16913-13, Article 16913
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Structural Characterization and Functional Analysis of Mevalonate Kinase from ITribolium castaneum/I
Author / Creator:Zheng, Haogang ; Yang, Yuanyuan ; Hu, Ying ; Shi, Jiaxuan ; Li, Qiaohui ; Wang, Yuanqiang ; Xia, Qingyou ; Guo, Pengchao
Publisher:MDPI AG
Journal title:International journal of molecular sciences, 2024-02, Vol.25 (5)
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Structural basis of negative feedback regulation in mevalonate kinase inhibition
Author / Creator:Kung, Yan
Journal title:Structural dynamics (Melville, N.Y.), 2025-03, Vol.12 (2), p.A169-A169
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Classification criteria for autoinflammatory recurrent fevers

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Mevalonate Kinase Deficiency: A Cause of Severe Very-Early-Onset Inflammatory Bowel Disease

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On-demand anakinra treatment is effective in mevalonate kinase deficiency

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Mevalonate kinase deficiency: current perspectives

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411 Periodic fever – unusual cause of Mevalonate kinase deficiency

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Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome

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Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes

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Increased core body temperature exacerbates defective protein prenylation in mouse models of mevalonate kinase deficiency

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The 2021 EULAR/American College of Rheumatology points to consider for diagnosis, management and monitoring of the interleukin-1 mediated autoinflammatory diseases: cryopyrin-associated periodic syndr...

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Spectrum of clinical features and genetic variants in mevalonate kinase

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Mevalonate kinase deficiency leads to decreased prenylation of Rab GTPases

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Mevalonate Kinase-Associated Diseases: Hunting for Phenotype–Genotype Correlation

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Mechanistic insight into the role of mevalonate kinase by a natural fatty acid-mediated killing of Leishmania donovani

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Mevalonate Kinase Deficiency as A Cause of Periodic Fever- A Report of Two Cases

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Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?

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Structural Characterization and Functional Analysis of Mevalonate Kinase from Tribolium castaneum (Red Flour Beetle)

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Isolated neurological presentations of mevalonate kinase deficiency

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Cloning and expression analysis of mevalonate kinase and phosphomevalonate kinase genes associated with the MVA pathway in Santalum album

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Structural Characterization and Functional Analysis of Mevalonate Kinase from ITribolium castaneum/I

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Structural basis of negative feedback regulation in mevalonate kinase inhibition

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