Works matching DE "MEVALONATE kinase deficiency"

Results: 99

Mevalonate kinase deficiency in two sisters with therapeutic response to anakinra: case report and review of the literature.

Published in:

2014

By:

Campanilho-Marques, Raquel;
Brogan, Paul

Publication type:

Case Study

Respiratory deficiency in yeast mevalonate kinase deficient may explain MKD-associate metabolic disorder in humans.

Published in:

Current Genetics, 2018, v. 64, n. 4, p. 871, doi. 10.1007/s00294-018-0803-2

By:

Santos, Manuella Maria Silva;
De Morais, Marcos Antonio;
Elsztein, Carolina;
De Souza, Rafael Barros;
Silva, Jaqueline Azevêdo;
Crovella, Sergio;
Paiva, Sérgio de Sá Leitão

Publication type:

Article

National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics.

Published in:

Modern Rheumatology, 2019, v. 29, n. 1, p. 181, doi. 10.1080/14397595.2018.1442639

By:

Takayuki Tanaka;
Kohei Yoshioka;
Ryuta Nishikomori;
Hidemasa Sakai;
Junya Abe;
Yuriko Yamashita;
Ryugo Hiramoto;
Akira Morimoto;
Eiichi Ishii;
Hirokazu Arakawa;
Utako Kaneko;
Yusei Ohshima;
Nami Okamoto;
Osamu Ohara;
Ikue Hata;
Yosuke Shigematsu;
Tomoki Kawai;
Takahiro Yasumi;
Toshio Heike

Publication type:

Article

Immunodeficiency-Like Phenotype, Recurrent Pulmonary Manifestations, and Persistent Polyarthritis: Mevalonate Kinase Deficiency Successfully Treated With Adalimumab.

Published in:

Archives of Rheumatology, 2020, v. 35, n. 4, p. 627, doi. 10.46497/ArchRheumatol.2020.7798

By:

ÇAKAN, Mustafa;
AKTAY AYAZ, Nuray;
EROL ÇİPE, Funda;
GÜL KARADAĞ, Şerife

Publication type:

Article

The Influence of Concomitant Disorders on Disease Severity of Familial Mediterranean Fever in Children.

Published in:

Archives of Rheumatology, 2018, v. 33, n. 3, p. 282, doi. 10.5606/ArchRheumatol.2018.6488

By:

KIŞLA EKİNCİ, Rabia Miray;
BALCI, Sibel;
UFUK ALTINTAŞ, Derya;
YILMAZ, Mustafa

Publication type:

Article

Periodic Fever in Children: A Report of Three Unusual Cases.

Published in:

Journal of Comprehensive Pediatrics, 2023, v. 14, n. 2, p. 1, doi. 10.5812/compreped-130982

By:

Goel, Neha;
Kashyap, Vikas;
Saini, Isha;
Sharma, Shobha;
Singh, Amitabh

Publication type:

Article

Mevalonate Metabolism in Cancer Stemness and Trained Immunity.

Published in:

Frontiers in Oncology, 2018, p. N.PAG, doi. 10.3389/fonc.2018.00394

By:

Gruenbacher, Georg;
Thurnher, Martin

Publication type:

Article

Successful treatment of refractory mevalonate kinase deficiency with combination therapy targeting TNFα and IL1β.

Published in:

2024

By:

Martin, Céleste;
Scheers, Isabelle;
Triaille, Clément;
Boulanger, Cécile

Publication type:

Case Study

Comment on: Detection of a rare variant in PSTPIP1 through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype.

Published in:

2023

By:

Zervou, Maria I;
Goulielmos, George N

Publication type:

Letter to the Editor

Detection of a rare variant in PSTPIP1 through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype.

Published in:

Rheumatology, 2023, v. 62, n. 9, p. 3188, doi. 10.1093/rheumatology/kead044

By:

Önen, Merve Özkılınç;
Onat, Umut İ;
Uğurlu, Serdal;
Timuçin, Ahmet C;
Arslan, Devrim Öz;
Everest, Elif;
Özdoğan, Huri;
Turanlı, Eda Tahir

Publication type:

Article

Diagnostic and therapeutic algorithms for monogenic autoinflammatory diseases presenting with recurrent fevers among adults.

Published in:

Rheumatology, 2023, v. 62, n. 8, p. 2665, doi. 10.1093/rheumatology/keac712

By:

Delplanque, Marion;
Fayand, Antoine;
Boursier, Guilaine;
Grateau, Gilles;
Savey, Léa;
Georgin-Lavialle, Sophie

Publication type:

Article

Long-term efficacy and safety of canakinumab in patients with mevalonate kinase deficiency: results from the randomised Phase 3 CLUSTER trial.

Published in:

Rheumatology, 2022, v. 61, n. 5, p. 2088, doi. 10.1093/rheumatology/keab696

By:

Jeyaratnam, Jerold;
Simon, Anna;
Calvo, Inmaculada;
Constantin, Tamas;
Shcherbina, Anna;
Hofer, Michael;
Gattorno, Marco;
Martini, Alberto;
Bader-Meunier, Brigitte;
Vastert, Bas;
Levy, Jeremy;
Dekker, Elise;
Benedetti, Fabrizio de;
Frenkel, Joost

Publication type:

Article

P084 Recurrent fever in children: why not a mevalonate kinase deficiency?

Published in:

Rheumatology, 2021, v. 60, p. 1, doi. 10.1093/rheumatology/keab722.076

By:

Ouahbi, K;
Gacem, O;
Boukandoura, F;
Benmekhmouf, H;
Hamadouche, N;
Hadjyoucef, N;
Chouiki, H;
Mehaba, N;
Abba, K;
Mansouri, N;
Achir, M;
Ladj, M S

Publication type:

Article

Haploidentical α/β T-cell and B-cell depleted stem cell transplantation in severe mevalonate kinase deficiency.

Published in:

Rheumatology, 2021, v. 60, n. 10, p. 4850, doi. 10.1093/rheumatology/keaa912

By:

Faraci, Maura;
Giardino, Stefano;
Podestà, Marina;
Pierri, Filomena;
Dell'Orso, Gianluca;
Beccaria, Andrea;
Neves, João Farela;
Volpi, Stefano;
Gattorno, Marco

Publication type:

Article

Corrigendum to: Haploidentical α/β T-cell and B-cell depleted stem cell transplantation in severe mevalonate kinase deficiency.

Published in:

2021

By:

Faraci, Maura;
Giardino, Stefano;
Podestà, Marina;
Pierri, Filomena;
Dell'Orso, Gianluca;
Beccaria, Andrea;
Neves, João Farela;
Volpi, Stefano;
Gattorno, Marco

Publication type:

Correction Notice

Validation of the new classification criteria for hereditary recurrent fever in an independent cohort: experience from the JIR Cohort Database.

Published in:

Rheumatology, 2020, v. 59, n. 10, p. 2947, doi. 10.1093/rheumatology/keaa031

By:

Dingulu, Glory;
Georgin-Lavialle, Sophie;
Koné-Paut, Isabelle;
Pillet, Pascal;
Pagnier, Anne;
Merlin, Etienne;
Kaiser, Daniela;
Belot, Alexandre;
Hofer, Michael;
Hentgen, Véronique

Publication type:

Article

P47 Profile of patients attending the combined paediatric rheumatology/immunology clinic.

Published in:

2018

By:

Sismanoglou, Nafsika;
Deepak, Samundeeswari;
Warrier, Kishore;
McDermott, Elizabeth;
Satyapal, Rangaraj;
Cliffe, Lucy

Publication type:

Abstract

P03 Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome caused by Enterobius vermicularis: clinical and microbiological evidence and effective treatment with mebendazole.

Published in:

2018

By:

Polese, Lino;
Muraro, Antonella;
Besutti, Valeria;
Palù, Giorgio

Publication type:

Abstract

The challenge of autoinflammatory syndromes: with an emphasis on hyper-IgD syndrome.

Published in:

Rheumatology, 2016, v. 55, p. ii23, doi. 10.1093/rheumatology/kew351

By:

van der Meer, Jos W. M.;
Simon, Anna

Publication type:

Article

On-demand treatment with anakinra: a treatment option for selected TRAPS patients.

Published in:

Rheumatology, 2015, v. 54, n. 9, p. 1749, doi. 10.1093/rheumatology/kev111

By:

Grimwood, Claire;
Despert, Véronique;
Jeru, Isabelle;
Hentgen, Véronique

Publication type:

Article

Putative modifier genes in mevalonate kinase deficiency.

Published in:

Molecular Medicine Reports, 2016, v. 13, n. 4, p. 3181, doi. 10.3892/mmr.2016.4918

By:

MARCUZZI, ANNALISA;
VOZZI, DIEGO;
GIRARDELLI, MARTINA;
TRICARICO, PAOLA MAURA;
KNOWLES, ALESSANDRA;
CROVELLA, SERGIO;
VUCH, JOSEF;
TOMMASINI, ALBERTO;
PISCIANZ, ELISA;
BIANCO, ANNA MONICA

Publication type:

Article

Two-gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results.

Published in:

Molecular Medicine Reports, 2015, v. 12, n. 4, p. 6128, doi. 10.3892/mmr.2015.4215

By:

BIANCO, ANNA MONICA;
FALETRA, FLAVIO;
VOZZI, DIEGO;
GIRARDELLI, MARTINA;
KNOWLES, ALESSANDRA;
TOMMASINI, ALBERTO;
ZAULI, GIORGIO;
MARCUZZI, ANNALISA

Publication type:

Article

Alendronate, a double-edged sword acting in the mevalonate pathway.

Published in:

Molecular Medicine Reports, 2015, v. 12, n. 3, p. 4238, doi. 10.3892/mmr.2015.3957

By:

TRICARICO, PAOLA MAURA;
GIRARDELLI, MARTINA;
KLEINER, GIULIO;
KNOWLES, ALESSANDRA;
VALENCIC, ERICA;
CROVELLA, SERGIO;
MARCUZZI, ANNALISA

Publication type:

Article

Heterozigot S52N Mevolinat Kinaz Mutasyonu ile İlişkili Şiddetli Hiper IgD Sendromu.

Published in:

Asthma Allergy Immunology / Astim Allerji Immunoloji, 2017, v. 15, n. 2, p. 111, doi. 10.21911/aai.5022

By:

ÇELİKSOY, Mehmet Halil;
BERDELİ, Afig;
COMBA, Atakan;
ÇALTEPE, Gönül;
YILDIRAN, Alişan

Publication type:

Article

Ultrasonographic findings in hyperimmunoglobulin D syndrome: a case report.

Published in:

2017

By:

Damian, Laura;
Fufezan, Otilia;
Farcău, Mihaela;
Tătar, Simona;
Lazăr, Călin;
Farcău, Dorin;
Damian, Laura Otilia;
Farcău, Dorin-Ioan

Publication type:

Case Study

Geranylgeraniol (GGOH) as a Mevalonate Pathway Activator in the Rescue of Bone Cells Treated with Zoledronic Acid: An In Vitro Study.

Published in:

Stem Cells International, 2019, p. 1, doi. 10.1155/2019/4351327

By:

Fliefel, Riham M.;
Entekhabi, Saleh A.;
Ehrenfeld, Michael;
Otto, Sven

Publication type:

Article

Knock-down of farnesyl pyrophosphate synthase protects heart-derived H9c2 cells against hypoxia/reoxygenation-induced injury.

Published in:

Cell Biology International, 2017, v. 41, n. 9, p. 982, doi. 10.1002/cbin.10795

By:

Dai, Dongpu;
Wu, Huandong;
Yang, Jian;
Shen, Shizhen;
Zhao, Chenze;
Ding, Jie;
Hu, Shenjiang

Publication type:

Article

Caution should be used in the recognition of adult-onset autoinflammatory disorders: facts or fiction?

Published in:

Frontiers in Immunology, 2013, p. 1, doi. 10.3389/fimmu.2013.00096

By:

Cantarini, Luca;
Lucherini, Orso Maria;
Rigante, Donato

Publication type:

Article

Autoinflammatory Reaction in Dogs Treated for Cancer via G6PD Inhibition.

Published in:

Case Reports in Veterinary Medicine, 2017, p. 1, doi. 10.1155/2017/4275305

By:

Nyce, Jonathan W.

Publication type:

Article

Knockdown of MVK does not lead to changes in NALP3 expression or activation.

Published in:

Journal of Inflammation, 2015, v. 12, n. 1, p. 1, doi. 10.1186/s12950-015-0048-5

By:

Celsi, Fulvio;
Piscianz, Elisa;
Romano, Maurizio;
Crovella, Sergio

Publication type:

Article

Knockdown of MVK does not lead to changes in NALP3 expression or activation.

Published in:

Journal of Inflammation, 2015, v. 12, n. 1, p. 77, doi. 10.1186/s12950-015-0048-5

By:

Celsi, Fulvio;
Piscianz, Elisa;
Romano, Maurizio;
Crovella, Sergio

Publication type:

Article

Muckle-Wells syndrome in an Indian family associated with NLRP3 mutation.

Published in:

Journal of Postgraduate Medicine, 2015, v. 61, n. 2, p. 120, doi. 10.4103/0022-3859.153107

By:

Abdulla, M. C.;
Alungal, J.;
Hawkins, P. N.;
Mohammed, S.

Publication type:

Article

Histopathologic features in a case of hyperimmunoglobulinemia D syndrome.

Published in:

Indian Dermatology Online Journal, 2015, v. 6, p. S33, doi. 10.4103/2229-5178.171059

By:

Pace, Sarah;
Bingham, Jonathan;
Royer, Michael

Publication type:

Article

Geranylgeraniol and Neurological Impairment: Involvement of Apoptosis and Mitochondrial Morphology.

Published in:

International Journal of Molecular Sciences, 2016, v. 17, n. 3, p. 365, doi. 10.3390/ijms17030365

By:

Marcuzzi, Annalisa;
Piscianz, Elisa;
Zweyer, Marina;
Bortul, Roberta;
Loganes, Claudia;
Girardelli, Martina;
Baj, Gabriele;
Monasta, Lorenzo;
Celeghini, Claudio

Publication type:

Article

Mevalonate Kinase Deficiency and Neuroinflammation: Balance between Apoptosis and Pyroptosis.

Published in:

International Journal of Molecular Sciences, 2013, v. 14, n. 12, p. 23274, doi. 10.3390/ijms141223274

By:

Tricarico, Paola Maura;
Marcuzzi, Annalisa;
Piscianz, Elisa;
Monasta, Lorenzo;
Crovella, Sergio;
Kleiner, Giulio

Publication type:

Article

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 Syndromes, Tumour Necrosis Factor Receptor‐Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin‐1 Receptor Antagonist

Published in:

Arthritis & Rheumatology, 2022, v. 74, n. 7, p. 1102, doi. 10.1002/art.42139

By:

Romano, Micol;
Arici, Z. Serap;
Piskin, David;
Alehashemi, Sara;
Aletaha, Daniel;
Barron, Karyl;
Benseler, Susanne;
Berard, Roberta A.;
Broderick, Lori;
Dedeoglu, Fatma;
Diebold, Michelle;
Durrant, Karen;
Ferguson, Polly;
Foell, Dirk;
Hausmann, Jonathan S.;
Jones, Olcay Y.;
Kastner, Daniel;
Lachmann, Helen J.;
Laxer, Ronald M.;
Rivera, Dorelia

Publication type:

Article

Open-Label, Phase II Study to Assess the Efficacy and Safety of Canakinumab Treatment in Active Hyperimmunoglobulinemia D With Periodic Fever Syndrome.

Published in:

Arthritis & Rheumatology, 2017, v. 69, n. 8, p. 1679, doi. 10.1002/art.40146

By:

Arostegui, Juan I.;
Anton, Jordi;
Calvo, Inmaculada;
Robles, Angel;
Iglesias, Estibaliz;
López‐Montesinos, Berta;
Banchereau, Romain;
Hong, Seunghee;
Joubert, Yolandi;
Junge, Guido;
Pascual, Virginia;
Yagüe, Jordi

Publication type:

Article

The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry.

Published in:

Arthritis & Rheumatology, 2016, v. 68, n. 11, p. 2795, doi. 10.1002/art.39763

By:

ter Haar, Nienke M.;
Jeyaratnam, Jerold;
Lachmann, Helen J.;
Simon, Anna;
Brogan, Paul A.;
Doglio, Matteo;
Cattalini, Marco;
Anton, Jordi;
Modesto, Consuelo;
Quartier, Pierre;
Hoppenreijs, Esther;
Martino, Silvana;
Insalaco, Antonella;
Cantarini, Luca;
Lepore, Loredana;
Alessio, Maria;
Calvo Penades, Inmaculada;
Boros, Christina;
Consolini, Rita;
Rigante, Donato

Publication type:

Article

Cryopyrin-Associated Periodic Syndrome Caused by a Myeloid-Restricted Somatic NLRP3 Mutation.

Published in:

Arthritis & Rheumatology, 2015, v. 67, n. 9, p. 2482, doi. 10.1002/art.39190

By:

Zhou, Qing;
Aksentijevich, Ivona;
Wood, Geryl M.;
Walts, Avram D.;
Hoffmann, Patrycja;
Remmers, Elaine F.;
Kastner, Daniel L.;
Ombrello, Amanda K.

Publication type:

Article

A40: Periodic Fever Syndromes in Canada: Results from a National Surveillance Program.

Published in:

Arthritis & Rheumatology, 2014, v. 66, p. S60, doi. 10.1002/art.38456

By:

Dancey, Paul;
Benseler, Susann;
Gattorno, Marco;
Junker, Anne K;
Laxer, Ronald M.;
Miettunen, Paivi;
Turner, Lesley Ann

Publication type:

Article

A121: In Search of Infectious Triggers of Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis Syndrome.

Published in:

Arthritis & Rheumatology, 2014, v. 66, p. S158, doi. 10.1002/art.38542

By:

Freeman, Samuel;
Bhatt, Ami;
Pedamallu, Chandra;
King, Sandra;
Duke, Fujiko;
Jung, Joonil;
Lawton, Maranda;
Anderson, Edwin;
Fuhlbrigge, Robert C.;
Kenna, Margaret;
Licameli, Greg;
Meyerson, Matthew;
Dedeoglu, Fatma

Publication type:

Article

Severe post-streptococcal acute glomerulonephritis and periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome.

Published in:

Pediatrics International, 2013, v. 55, n. 2, p. 259, doi. 10.1111/ped.12077

By:

Chiba, Nao;
Watanabe, Shojiro;
Aizawa‐Yashiro, Tomomi;
Tsuruga, Kazushi;
Ito, Etsuro;
Oda, Takashi;
Joh, Kensuke;
Tanaka, Hiroshi

Publication type:

Article

Mevalonate kinase deficiency: current perspectives.

Published in:

Application of Clinical Genetics, 2016, v. 9, p. 101, doi. 10.2147/TACG.S93933

By:

Favier, Leslie A.;
Schulert, Grant S.

Publication type:

Article

Untethered proteins found in MKD.

Published in:

Medical Journal of Australia, 2017, v. 206, n. 10, p. 420, doi. 10.5694/mja17.n0506

By:

Swannell, Cate

Publication type:

Article

Higher body temperature alters key protein in autoinflammatory disorder.

Published in:: Indian Practitioner, 2022, v. 75, n. 10, p. 14
Publication type:: Article

Hyperimmunoglobulin-D Syndrome in Children: A Review Article.

Published in:

Journal of Pediatrics Review, 2016, p. 1, doi. 10.17795/jpr-4593

By:

Golpour, Masoud;
Ghaffari, Javad

Publication type:

Article

Treatment of hyperimmunoglobulinemia D syndrome with biologics in children: review of the literature and Finnish experience.

Published in:

European Journal of Pediatrics, 2015, v. 174, n. 6, p. 707, doi. 10.1007/s00431-015-2505-9

By:

Kostjukovits, Svetlana;
Kalliokoski, Liisa;
Antila, Kaisu;
Korppi, Matti

Publication type:

Article

The Eurofever Project: towards better care for autoinflammatory diseases.

Published in:

2011

By:

Ozen, Seza;
Frenkel, Joost;
Ruperto, Nicola;
Gattorno, Marco;
Eurofever Project

Publication type:

journal article

Metformin Suppresses Cancer Stem Cells through AMPK Activation and Inhibition of Protein Prenylation of the Mevalonate Pathway in Colorectal Cancer.

Published in:

Cancers, 2020, v. 12, n. 9, p. 2554, doi. 10.3390/cancers12092554

By:

Seo, Yoojeong;
Kim, Janghyun;
Park, Soo Jung;
Park, Jae Jun;
Cheon, Jae Hee;
Kim, Won Ho;
Kim, Tae Il

Publication type:

Article

Follow the complex bread crumbs: A review of autoinflammation for the general paediatrician.

Published in:

Paediatrics & Child Health (1205-7088), 2020, v. 25, n. 5, p. 279, doi. 10.1093/pch/pxz072

By:

Tsoukas, Paul;
Laxer, Ronald M

Publication type:

Article