The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review.
about
Autoinflammatory pustular neutrophilic diseasesAutoinflammatory bone diseasesLipins, lipinopathies, and the modulation of cellular lipid storage and signalingLipin 2 binds phosphatidic acid by the electrostatic hydrogen bond switch mechanism independent of phosphorylation.Phosphatidate degradation: phosphatidate phosphatases (lipins) and lipid phosphate phosphatases.Thematic Review Series: Glycerolipids. Multiple roles for lipins/phosphatidate phosphatase enzymes in lipid metabolism.Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).The role of IL-1β in the bone loss during rheumatic diseases.New discoveries in CRMO: IL-1β, the neutrophil, and the microbiome implicated in disease pathogenesis in Pstpip2-deficient mice.Chronic cutaneous pustulosis due to a 175-kb deletion on chromosome 2q13: excellent response to anakinra.Lipin-2 reduces proinflammatory signaling induced by saturated fatty acids in macrophages.Mouse lipin-1 and lipin-2 cooperate to maintain glycerolipid homeostasis in liver and aging cerebellum.A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: description of two unrelated cases from Brazil.Current understanding of the pathogenesis and management of chronic recurrent multifocal osteomyelitisEfficacy of anti-IL-1 treatment in Majeed syndromePhenotypic Variability in Majeed SyndromeThe lipin protein family: dual roles in lipid biosynthesis and gene expressionA missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitisBiological treatments: new weapons in the management of monogenic autoinflammatory disordersLipins: multifunctional lipid metabolism proteinsNegative control of mast cell degranulation and the anaphylactic response by the phosphatase lipin1Diagnosis and management of autoinflammatory diseases in childhood.Monogenic autoinflammatory diseases: concept and clinical manifestations.Dysregulation of innate immunity: hereditary periodic fever syndromes.The lipin family: mutations and metabolism.Recurrent febrile syndromes: what a rheumatologist needs to know.Inflammasome-independent IL-1β mediates autoinflammatory disease in Pstpip2-deficient miceSkin symptoms as diagnostic clue for autoinflammatory diseases.Monogenic autoinflammatory syndromes at a dermatological level.The Eurofever Project: towards better care for autoinflammatory diseases.Autoinflammatory bone disorders: update on immunologic abnormalities and clues about possible triggers.Acute rhabdomyolysis and inflammation.Chronic Recurrent Multifocal Osteomyelitis and Related Diseases-Update on Pathogenesis.A splice site mutation confirms the role of LPIN2 in Majeed syndrome.Chronic recurrent multifocal osteomyelitis: a first report from Saudi Arabia.The Phosphatidic Acid-Binding, Polybasic Domain is Responsible for the Differences in the Phosphoregulation of Lipins 1 and 3.Gene structure and spatio-temporal expression of chicken LPIN2.
P2860
Q24603182-4B72149D-CC43-4592-9A7E-887B6034205CQ26829850-3BF91F75-F70C-44CC-9DA3-9D5853BDFC53Q26865945-DF2CF0DE-539E-44C3-B2EA-A331A13E3A35Q30384605-BA9A68A8-33DF-4E7C-9D50-7C530FFFA82EQ33871978-9541AC56-7CB5-4F78-9360-411A915BC973Q34827108-CF197F5D-32B6-4B6F-A5BE-D79399DF707DQ35448758-AFCEEBF1-E33F-4637-9C66-3D9B8405BACEQ35540844-FBEDFBEA-7DDB-49D8-A637-B74DE260AF86Q35610112-E03CFBE1-B7B2-4E9B-BF8D-314F497296AEQ35855053-3B646B05-7326-4B3D-AE0F-0C61E3A92FCBQ35879554-11442BDB-BAC6-4F0F-8695-053B6293EEC0Q36236228-5CEDC8B0-B703-4A34-BF96-3C1B70EDC98FQ36296299-11403DC5-407F-4999-A2C7-09733665AFBAQ36850988-A0DAB957-7099-4B04-9F8A-CAB2572B2FDAQ36863142-47CF31A0-2DC7-424D-9A2E-94D03BCA6462Q36981620-ACFE303E-488B-4027-83AC-F56FDAF5204DQ37006377-84BFE836-5648-4CE5-B48B-AC91CE6D7AFDQ37053052-217C582C-553D-4DE8-BE70-ABF3DE5E58ECQ37077564-4F57AF17-E071-4FF1-8792-5B93708E41F4Q37082958-89DFD434-26D4-4C9C-87CF-9AED6851C9F3Q37109273-E4B2A592-0338-4BC7-80AF-E0E13A618C7DQ37119740-142E6210-93C0-4977-AA55-59615144E4AAQ37162157-EC9FB4E2-09C2-4CB5-B1D2-9D1DD5088516Q37361404-51AD8478-D1A6-4AD5-91C8-31A71873DE9FQ37445474-89722486-C00C-4B70-80C1-ACA706F80897Q37468460-A0EABAFD-AEBF-4A7F-82A0-3319089C0490Q37519648-1381D292-FF88-46A5-8B94-D52478D0E942Q37644622-B74826AC-7C41-4BF6-B169-9B51F25E9457Q37845749-9FB4CAAF-6DBE-4B73-97CA-11F4D13EA17CQ37848193-996C467F-5D7C-4F9C-9188-E6682094DBEBQ38126760-E0E77E61-E3C2-474F-888E-EE6641C5832AQ38380755-D47D2E08-3038-4A85-A005-134956736882Q39210350-1ADEBA08-00E0-44D3-AEF3-0D8204991896Q40456688-B4352CB5-524A-45A4-AF1B-6715FC64D7B2Q42275665-CCAE477A-1DE8-4804-ADB9-454A80C57A95Q45069384-93C9F2BF-A959-4DFA-B66E-F97383B8F1F4Q50686392-5CA8ABBF-2966-424A-BB3E-F13866205D1E
P2860
The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review.
description
2001 nî lūn-bûn
@nan
2001 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
The syndrome of chronic recurr ...... of a new family and a review.
@ast
The syndrome of chronic recurr ...... of a new family and a review.
@en
type
label
The syndrome of chronic recurr ...... of a new family and a review.
@ast
The syndrome of chronic recurr ...... of a new family and a review.
@en
prefLabel
The syndrome of chronic recurr ...... of a new family and a review.
@ast
The syndrome of chronic recurr ...... of a new family and a review.
@en
P2093
P356
P1476
The syndrome of chronic recurr ...... of a new family and a review.
@en
P2093
F Al-Khalaileh
H A Majeed
H El-Shanti
M Al-Tarawna
P2888
P304
P356
10.1007/S004310100799
P577
2001-12-01T00:00:00Z
P5875
P6179
1000351593