Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever

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Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever is …
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scholarly articleQ13442814

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P356DOI10.1016/S0092-8674(00)80539-5
P698PubMed publication ID9288758

P2093author name stringThe International FMF Consortium
P2860cites workDevelopmentally regulated expression of a human "finger"-containing gene encoded by the 5' half of the ret transforming geneQ24298289
Identification of a mutation in the gene causing hyperkalemic periodic paralysisQ24314688
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The gene causing familial Mediterranean fever maps to the short arm of chromosome 16 in Druze and Moslem Arab familiesQ40694233
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C5a-inhibitor deficiency in peritoneal fluids from patients with familial Mediterranean feverQ40825352
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Evidence of changes in protease sensitivity and subunit exchange rate on DNA binding by C/EBP.Q54317767
B30.2-like domain proteins: a growing familyQ73442902
Dominant inheritance in two families with familial Mediterranean fever (FMF)Q95806382
P433issue4
P407language of work or nameEnglishQ1860
P921main subjectfamilial Mediterranean feverQ1144618
P304page(s)797-807
P577publication date1997-08-01
P1433published inCellQ655814
P1476titleAncient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium
P478volume90

Reverse relations

cites work (P2860)
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Q34905606Inflammasomes and their activation.
Q90683704Inflammasomes in the pathophysiology of autoinflammatory syndromes
Q40484897Inflammatory/demyelinating central nervous system involvement in familial Mediterranean fever (FMF): coincidence or association?
Q38093826Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature
Q57369432Inherited disorders of cholesterol biosynthesis
Q28392019Inhibiting the inflammasome: one domain at a time
Q38985852Innate immune sensing of bacterial modifications of Rho GTPases by the Pyrin inflammasome
Q89999182Insights into rheumatic diseases from next-generation sequencing
Q28212112Interaction between pyrin and the apoptotic speck protein (ASC) modulates ASC-induced apoptosis
Q34395848Interferon-inducible factor 16 is a novel modulator of glucocorticoid action
Q39301613Interleukin-1 Blockade: An Update on Emerging Indications
Q40376774Interleukin-1 cytokines, inflammasomes, NOD-signalosomes and autoinflammation
Q64275741Interleukin-18 in Health and Disease
Q42109190Interleukin-1β inhibitors for the treatment of cryopyrin-associated periodic syndrome
Q57688726Interventions for reducing inflammation in familial Mediterranean fever
Q24187197Interventions for reducing inflammation in familial Mediterranean fever
Q24201537Interventions for reducing inflammation in familial Mediterranean fever
Q35637910Intrafamilial segregation analysis of the p.E148Q MEFV allele in familial Mediterranean fever
Q33514820Involvement of the modifier gene of a human Mendelian disorder in a negative selection process
Q64884960Kawasaki disease and familial mediterranean fever gene mutations, is there any link?
Q40572763Lack of isoprenoid products raises ex vivo interleukin-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndrome
Q35078047Large pericardial effusion in a family with recurrent pericarditis: A report of probable x-linked transmission
Q26827163Lighting the fires within: the cell biology of autoinflammatory diseases
Q38657169Lights and shadows in autoinflammatory syndromes from the childhood and adulthood perspective
Q40619053Liver and brain mucormycosis in a diabetic patient type II successfully treated with liposomial amphotericin B.
Q43426439Longest form of CCTG microsatellite repeat in the promoter of the CD2BP1/PSTPIP1 gene is associated with aseptic abscesses and with Crohn disease in French patients
Q46158080M694V mutation may have a role in susceptibility to ankylosing spondylitis.
Q38628638MEFV M694V mutation has a role in susceptibility to ankylosing spondylitis: A meta-analysis.
Q40241499MEFV Variants in Patients with PFAPA Syndrome in Japan
Q40317284MEFV gene mutation spectrum in familial Mediterranean fever (FMF) : a single center study in the Aegean region of Turkey
Q40447308MEFV gene mutations spectrum among Lebanese patients referred for Familial Mediterranean Fever work-up: experience of a major tertiary care center.
Q50122752MEFV gene testing may guide physicians for early diagnosis of familial Mediterranean fever
Q40227432MEFV gene variations in patients with systemic lupus erythematosus
Q40256420MEFV gene variations in patients with systemic lupus erythematosus
Q58284002MEFV mutation analysis in Turkish familial Mediterranean fever patients with amyloidosis
Q58273510MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever
Q38987311MEFV mutations in Egyptian patients suffering from familial Mediterranean fever: analysis of 12 gene mutations
Q38901444MEFV mutations in Moroccan patients suffering from familial Mediterranean Fever
Q40618094MEFV mutations in multiplex families with familial Mediterranean fever: is a particular genotype necessary for amyloidosis?
Q40389450MEFV mutations in patients with Familial Mediterranean Fever from the Aegean region of Turkey.
Q22010244MID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development
Q36566547Management of familial Mediterranean fever by colchicine does not normalize the altered profile of microbial long chain fatty acids in the human metabolome
Q40637311Mechanisms for treatment: periodic disease
Q40241017Mediterranean Fever gene analysis in the azeri turk population with familial mediterranean Fever: evidence for new mutations associated with disease
Q40353369Mediterranean fever (MEFV) gene mutation frequency is not increased in adults with rheumatic heart disease
Q40171401Mediterranean fever gene mutations: correlation with cytotoxic T-lymphocyte-associated antigen 4 gene polymorphism.
Q36041225Molecular mechanisms in genetically defined autoinflammatory diseases: disorders of amplified danger signaling
Q37733733Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.
Q33798590Monogenic IL-1 mediated autoinflammatory and immunodeficiency syndromes: finding the right balance in response to danger signals
Q39301708Monogenic Periodic Fever Syndromes: Treatment Options for the Pediatric Patient
Q38211947Monogenic autoinflammatory diseases
Q37162157Monogenic autoinflammatory diseases: concept and clinical manifestations
Q37466515Monogenic autoinflammatory diseases: disorders of amplified danger sensing and cytokine dysregulation
Q34489840Monogenic autoinflammatory diseases: new insights into clinical aspects and pathogenesis
Q37299354Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues
Q89927186Moving towards a systems-based classification of innate immune-mediated diseases
Q40227631Multiple myeloma occurring in a familial Mediterranean fever
Q59336394Musculoskeletal manifestations occur predominantly in patients with later-onset familial Mediterranean fever: Data from a multicenter, prospective national cohort study in Japan
Q40599425Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population
Q24291856Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome
Q24308730Mutations in NALP12 cause hereditary periodic fever syndromes
Q33864877Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.
Q36912187NALP inflammasomes: a central role in innate immunity.
Q28206764NALPs: a novel protein family involved in inflammation
Q36944426NLR proteins: integral members of innate immunity and mediators of inflammatory diseases
Q27642273NMR structure of the apoptosis- and inflammation-related NALP1 pyrin domain
Q38242966NOD-like receptors interfacing the immune and reproductive systems.
Q34199862NODs: intracellular proteins involved in inflammation and apoptosis
Q38076049Negative regulation of human mononuclear phagocyte function
Q33903590Neutrophils: molecules, functions and pathophysiological aspects
Q47949775New insights into the epigenetics of inflammatory rheumatic diseases.
Q38253392New players driving inflammation in monogenic autoinflammatory diseases
Q40138574Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.
Q38374152Non-canonical manifestations of familial Mediterranean fever: a changing paradigm
Q35553949Non-isotopic RNase cleavage assay for mutation detection in MEFV, the gene responsible for familial Mediterranean fever, in a cohort of Greek patients
Q52607184Novel aspects of the assembly and activation of inflammasomes with focus on the NLRC4 inflammasome.
Q88990365Novel insights into the role of inflammasomes in autoimmune and metabolic rheumatic diseases
Q38122566Novel therapeutics for the treatment of familial Mediterranean fever: from colchicine to biologics
Q48277726One novel and two uncommon MEFV mutations in Japanese patients with familial Mediterranean fever: a clinicogenetic study
Q30424095Origin and diversification of TRIM ubiquitin ligases
Q36762550Oscillations in the immune system
Q34102054P wave dispersion and QT dispersion in adult Turkish migrants with familial mediterranean fever living in Germany
Q24292156PYPAF1, a PYRIN-containing Apaf1-like protein that assembles with ASC and regulates activation of NF-kappa B
Q34560380Pathogenesis of familial periodic fever syndromes or hereditary autoinflammatory syndromes
Q40239441Patient management and the association of less common familial Mediterranean fever symptoms with other disorders.
Q37852153Periodic Peritonitis due to Familial Mediterranean Fever in a Patient with Systemic Lupus Erythematosus
Q33866992Periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome: clinical characteristics and outcome
Q42786318Periodic fevers enter the era of molecular diagnosis
Q38066272Phenotype 2 familial mediterranean fever: evaluation of 22 case series and review of the literature on phenotype 2 FMF.
Q34086383Phenotype-genotype correlation in 91 patients with familial Mediterranean fever reveals a high frequency of cutaneomucous features
Q38866091Phenotype-genotype updates from familial Mediterranean fever database registry of Mansoura University Children' Hospital, Mansoura, Egypt
Q40489339Plasma interleukin-10 and interleukin-12 levels in patients with familial Mediterranean fever
Q34439639Plasminogen activator inhibitor-1 gene polymorphism in Iranian Azeri Turkish patients with FMF disease and its association with amyloidosis.
Q37721227Pneumonia in a patient with familial Mediterranean fever successfully treated with anakinra--case report and review
Q29620319Points of control in inflammation
Q73194010Polymorphisms in the MLL breakpoint cluster region (BCR)
Q36849254Population genetics of familial Mediterranean fever: a review.
Q39374120Posttranslational Modification as a Critical Determinant of Cytoplasmic Innate Immune Recognition.
Q26767114Precision autophagy directed by receptor regulators - emerging examples within the TRIM family
Q40173923Predictors of AA amyloidosis in familial Mediterranean fever.
Q33363139Predominant role of host genetics in controlling the composition of gut microbiota
Q40388867Presentation of familial Mediterranean fever in a heterozygous MEFV mutation triggered by immunosuppressive therapy for myelodysplastic syndrome
Q40546130Prevalence and significance of mutations in the familial Mediterranean fever gene in Henoch-Schönlein purpura
Q36021488Prevalence and significance of mutations in the familial Mediterranean fever gene in patients with Crohn's disease
Q40108750Prevalence of Fabry Disease in Familial Mediterranean Fever Patients from Central Anatolia of Turkey
Q89099575Prevalence of Mediterranean FeVer Gene Mutations in Turkish Cypriot Population
Q34367330Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist
Q35028758Profiles of Microbial Fatty Acids in the Human Metabolome are Disease-Specific.
Q39064225Protein inhibitor of acid deoxyribonucleases. Improved purification procedure and properties
Q40362651Protracted febrile myalgia syndrome in familial Mediterranean fever
Q40140940Psoriasis-like lesions in a patient with familial Mediterranean fever
Q34273588Pub, a novel PU.1 binding protein, regulates the transcriptional activity of PU.1
Q40473433Pulmonary amyloidosis in familial Mediterranean fever.
Q47332836Pyrin Inflammasome Regulates Tight Junction Integrity to Restrict Colitis and Tumorigenesis
Q33479535Pyrin Modulates the Intracellular Distribution of PSTPIP1.
Q30489231Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants
Q24655872Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway
Q37661273Pyrin critical to macrophage IL-1beta response to Francisella challenge
Q28596027Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDS
Q26827832Pyrin- and CARD-only Proteins as Regulators of NLR Functions
Q40147075Pyrin-PSTPIP1 colocalises at the leading edge during cell migration
Q40262692Quality of life in adult patients with Familial Mediterranean fever living in Germany or Turkey compared to healthy subjects: a study evaluating the effect of disease severity and country of residence
Q90290826Recurrence of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome after tonsillectomy: case-based review
Q38680309Recurrent Fevers for the Pediatric Immunologist: It's Not All Immunodeficiency
Q37468460Recurrent febrile syndromes: what a rheumatologist needs to know
Q28208176Reduced MEFV messenger RNA expression in patients with familial Mediterranean fever
Q28180120Regulation of cryopyrin/Pypaf1 signaling by pyrin, the familial Mediterranean fever gene product
Q26996605Regulation of inflammasome signaling
Q36931677Regulatory molecules involved in inflammasome formation with special reference to a key mediator protein, ASC.
Q64989555Relapsing periodic arthritis, palindromic rheumatism and MEFV gene-related variants alleles in children.
Q36324988Relationship between SPRY and B30.2 protein domains. Evolution of a component of immune defence?
Q37371210Relationship between genetic mutation variations and acute-phase reactants in the attack-free period of children diagnosed with familial Mediterranean fever
Q40138008Relationship between periodontal destruction and gene mutations in patients with familial Mediterranean fever.
Q36851095Renal amyloidosis due to familial mediterranean fever misdiagnosed
Q37848210Renal amyloidosis in children
Q40064657Retinal and Choroidal Thickness in Adult Patients with Familial Mediterranean Fever.
Q77803126Rheumatologic manifestations of gastrointestinal diseases
Q36779478Ribotoxic stress through p38 mitogen-activated protein kinase activates in vitro the human pyrin inflammasome.
Q40170055Risk factors for subclinical inflammation in children with Familial Mediterranean fever
Q37822295Role of autoimmunity and autoinflammation in the pathogenesis of idiopathic recurrent pericarditis
Q40070578Role of genetics in familial Mediterranean fever
Q47138746Role of genetics in pediatric rheumatology
Q92077069Role of inflammasomes in the pathogenesis of periodontal disease and therapeutics
Q40357744Role of the R92Q TNFRSF1A mutation in patients with familial Mediterranean fever
Q24597380SMART, a simple modular architecture research tool: identification of signaling domains
Q39262471Screening of common and novel familial mediterranean fever mutations in south-east part of Turkey.
Q40413709Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres
Q40224961Self-medication to treat pain in attacks of familial Mediterranean fever: aiming to find a new approach to pain management
Q40558606Serum amyloid A1 and tumor necrosis factor-alpha alleles in Turkish familial Mediterranean fever patients with and without amyloidosis
Q40440510Serum macrophage migration inhibitory factor (MIF) in the intercritical phase of hereditary periodic fevers and its relationship with the MIF-173G/C polymorphism
Q40460104Serum proinflammatory cytokines directing T helper 1 polarization in patients with familial Mediterranean fever.
Q35555791Severe disease in patients with rheumatoid arthritis carrying a mutation in the Mediterranean fever gene
Q37200090Site-specific phosphorylation and microtubule dynamics control Pyrin inflammasome activation
Q40185834Sonographic assessment of spleen size in Turkish migrants with Familial Mediterranean fever in Germany
Q35550749Specific glycosylation of alpha(1)-acid glycoprotein characterises patients with familial Mediterranean fever and obligatory carriers of MEFV
Q24541987Structural and functional insights into the B30.2/SPRY domain.
Q24684586Structural basis for PRYSPRY-mediated tripartite motif (TRIM) protein function
Q28652890Structural, expression, and evolutionary analysis of mouse CIAS1
Q36306733Suppression of cancer phenotypes through a multifunctional actin-binding protein, calponin, that attacks cancer cells and simultaneously protects the host from invasion
Q40384826Syndrome of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) in siblings
Q36927947Systemic Concentrations of Short Chain Fatty Acids Are Elevated in Salmonellosis and Exacerbation of Familial Mediterranean Fever
Q35659928Systemic arthritis in children: a review of clinical presentation and treatment
Q54123367TAK1 restricts spontaneous NLRP3 activation and cell death to control myeloid proliferation.
Q40191651TLR2 and TLR4 gene expression levels and associated factors during acute attack and attack-free periods in familial Mediterranean fever
Q63976848TNF/TNFR axis promotes pyrin inflammasome activation and distinctly modulates pyrin inflammasomopathy
Q33971049TNFRSF1A mutations and autoinflammatory syndromes
Q24607229TRIM family proteins and their emerging roles in innate immunity
Q24338801TRIM-mediated precision autophagy targets cytoplasmic regulators of innate immunity
Q27650357TRIM21 is an IgG receptor that is structurally, thermodynamically, and kinetically conserved
Q24294243TRIM27 negatively regulates NOD2 by ubiquitination and proteasomal degradation
Q42520295TRIM9 is specifically expressed in the embryonic and adult nervous system
Q40562330Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis
Q35804717Targeting the inflammasome in rheumatic diseases.
Q34684433The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production
Q37270409The Central Role of Anti-IL-1 Blockade in the Treatment of Monogenic and Multi-Factorial Autoinflammatory Diseases
Q33932432The DAPIN family: a novel domain links apoptotic and interferon response proteins
Q37848193The Eurofever Project: towards better care for autoinflammatory diseases
Q40348928The Familial Mediterranean Fever Gene as a Modifier of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenopathy Syndrome
Q36605185The M694V mutation in Armenian-Americans: a 10-year retrospective study of MEFV mutation testing for familial Mediterranean fever at UCLA.
Q37689981The MEFV gene pathogenic variants and phenotype-genotype correlation in children with familial Mediterranean fever in the Çanakkale population
Q40607611The MICA region determines the first modifier locus in familial Mediterranean fever
Q35159220The MetaFMF website: a high quality tool for meta-analysis of FMF.
Q38423379The NAIP-NLRC4 inflammasome in innate immune detection of bacterial flagellin and type III secretion apparatus
Q36931672The NLR network and the immunological disease continuum of adaptive and innate immune-mediated inflammation against self
Q30956847The PYRIN connection: novel players in innate immunity and inflammation
Q28383855The PYRIN domain in signal transduction
Q24644648The PYRIN domain: a member of the death domain-fold superfamily
Q28206887The PYRIN domain: a novel motif found in apoptosis and inflammation proteins
Q92921941The Pyrin Inflammasome in Health and Disease
Q26749025The Relationship between NALP3 and Autoinflammatory Syndromes
Q28179242The Ret finger protein induces apoptosis via its RING finger-B box-coiled-coil motif
Q40146198The SPRY domain of Pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1beta processing
Q40337569The SPRY domain of SSB-2 adopts a novel fold that presents conserved Par-4-binding residues
Q38349872The Tumor Necrosis Factor α-dependent Activation of the Human Mediterranean Fever (MEFV) Promoter Is Mediated by a Synergistic Interaction between C/EBPβ and NFκB p65
Q97518819The Use of Interleukine-1 Inhibitors in Familial Mediterranean Fever Patients: A Narrative Review
Q40363320The association of inflammatory bowel disease and Mediterranean fever gene (MEFV) mutations in Turkish children
Q38967233The burgeoning field of innate immune-mediated disease and autoinflammation
Q34464837The camptodactyly-arthropathy-coxa vara-pericarditis syndrome: clinical features and genetic mapping to human chromosome 1.
Q40573334The changing aetiological spectrum of pericarditis in children
Q57160539The classification, genetic diagnosis and modelling of monogenic autoinflammatory disorders
Q40401212The clinical and genetical features of 124 children with Familial Mediterranean fever: experience of a single tertiary center
Q34598115The contribution of SAA1 polymorphisms to Familial Mediterranean fever susceptibility in the Japanese population
Q40464864The contribution of genotypes at the MICA gene triplet repeat polymorphisms and MEFV mutations to amyloidosis and course of the disease in the patients with familial Mediterranean fever.
Q40049239The detection of a novel insertion mutation in exon 2 of the MEFV gene associated with familial mediterranean fever in a moroccan family
Q40282424The effect of colchicine on pyrin and pyrin interacting proteins
Q34039381The effect of rilonacept versus placebo on health-related quality of life in patients with poorly controlled familial Mediterranean fever
Q38975015The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome
Q40466570The expanded clinical spectrum of familial Mediterranean fever.
Q33592763The expanding spectrum of rare monogenic autoinflammatory diseases
Q39426709The experience of canakinumab in renal amyloidosis secondary to Familial Mediterranean fever
Q40516407The familial Mediterranean fever (MEVF) gene as a modifier of Crohn's disease
Q24291475The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments
Q24642151The familial Mediterranean fever protein, pyrin, is cleaved by caspase-1 and activates NF-kappaB through its N-terminal fragment
Q84912459The frequency of MEFV gene mutations in Behcet's disease and their relation with clinical findings
Q74744600The genetic etiology of systemic lupus erythematosus: a short dispatch from the combat zone
Q27325503The inflammasome pyrin contributes to pertussis toxin-induced IL-1β synthesis, neutrophil intravascular crawling and autoimmune encephalomyelitis
Q24304087The inflammasomes
Q37600652The inherited autoinflammatory syndrome: a decade of discovery.
Q39443996The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation
Q40601396The musculoskeletal manifestations of familial Mediterranean fever in children genetically diagnosed with the disease
Q22008007The novel estrogen-responsive B-box protein (EBBP) gene is tamoxifen-regulated in cells expressing an estrogen receptor DNA-binding domain mutant
Q33465135The prevalence of celiac disease among patients with familial mediterranean Fever
Q28204881The pyrin domain: a possible member of the death domain-fold family implicated in apoptosis and inflammation
Q37903230The regulation of MEFV expression and its role in health and familial Mediterranean fever
Q40497943The relations between attacks and menstrual periods and pregnancies of familial Mediterranean fever patients.
Q36981046The risk of familial Mediterranean fever in MEFV heterozygotes: a statistical approach
Q40299613The role of regulatory T cells in familial Mediterranean fever (FMF).
Q39646251The role of the pro-apoptotic protein Siva in the pathogenesis of Familial Mediterranean fever: A structural and functional analysis
Q40267982The scintigraphic evaluation and genetic correlation of joint involvements in pediatric patients with familial Mediterranean fever
Q78600172The significance of paired MEFV mutations in individuals without symptoms of familial Mediterranean fever
Q34314032The spectrum of Familial Mediterranean Fever (FMF) mutations
Q37208960The spectrum of monogenic autoinflammatory syndromes: understanding disease mechanisms and use of targeted therapies
Q24291183The tripartite motif family identifies cell compartments
Q24535763The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers
Q34714963Thoracic and lung involvement in familial Mediterranean fever (FMF).
Q90171023Toward targeting inflammasomes: insights into their regulation and activation
Q58698926Towards personalized medicine in Ménière’s disease
Q38202563Tumor necrosis factor receptor-associated periodic syndrome as a model linking autophagy and inflammation in protein aggregation diseases
Q36501135Two Genetic Variations in the IRF8 region are associated with Behçet's disease in Han Chinese
Q40551844Two German CINCA (NOMID) patients with different clinical severity and response to anti-inflammatory treatment
Q39525163Two novel mutations R653H and E230K in the Mediterranean fever gene associated with disease
Q38004932Type I IFN-mediated regulation of IL-1 production in inflammatory disorders.
Q91614231Ubiquitination-Mediated Inflammasome Activation during Bacterial Infection
Q26749573Update on Pyrin Functions and Mechanisms of Familial Mediterranean Fever
Q90727834Update on the management of colchicine resistant Familial Mediterranean Fever (FMF)
Q40561366Urinary glycosaminoglycans in the course of familial Mediterranean fever
Q34194218Usefulness of mean platelet volume and neutrophil-to-lymphocyte ratio for evaluation of children with Familial Mediterranean fever
Q40310083Validation of a diagnostic score for the diagnosis of autoinflammatory diseases in adults.
Q33650709Validation of the new paediatric criteria for the diagnosis of familial Mediterranean fever: data from a mixed population of 100 children from the French reference centre for auto-inflammatory disorders
Q34420031When less is more: primary immunodeficiency with an autoinflammatory kick
Q24647356Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase
Q38337492XL43 and XL75: two novel RING finger-containing genes expressed during oogenesis and embryogenesis in Xenopus laevis
Q40478055[Auto-inflammatory disease with hyperimmunoglobulinemia D of late onset].
Q87893038[Autoinflammatory syndromes : Practical approach to diagnostics and therapy]
Q83811771[Autoinflammatory syndromes]
Q77421303[Familial mediterranean fever is a hereditary disorder of the neutrophil]
Q77421317[Genetic diagnosis of periodic disease]
Q74589977[Genetic diagnosis of periodic diseases (familial mediterranean fever or FMF)]
Q87907460[Inflammasome and gout]
Q40376766[Molecular diagnostics of hereditary fever syndromes. Familial Mediterranean fever (FMF), hyperimmunoglobulin D syndrome (HIDS), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS: FCAS,
Q30852257bloodthirsty, an RBCC/TRIM gene required for erythropoiesis in zebrafish
Q42375820Approche à la fièvre récurrente de l’enfant

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