Gene hunting in autoinflammation.

PubWeight™: 0.77‹?›

🔗 View Article (PMC 3849995)

Published in Clin Transl Allergy on September 26, 2013

Authors

Ariane Standing1, Ebun Omoyinmi, Paul Brogan

Author Affiliations

1: Institute of Child Health, UCL, 30 Guilford Street, London WC1N 1EH, UK. ariane.standing@ucl.ac.uk.

Articles cited by this

A method and server for predicting damaging missense mutations. Nat Methods (2010) 78.53

MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods (2010) 16.61

Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. N Engl J Med (2009) 7.53

Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. Cell (1997) 7.43

A candidate gene for familial Mediterranean fever. Nat Genet (1997) 7.17

CARD15 mutations in Blau syndrome. Nat Genet (2001) 5.79

Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell (1999) 5.01

An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N Engl J Med (2009) 4.97

Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet (2002) 4.84

Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat Genet (1999) 3.44

Autoinflammatory disease reloaded: a clinical perspective. Cell (2010) 3.04

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis. N Engl J Med (2011) 2.93

Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. Nat Genet (2006) 2.92

Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Nat Genet (2001) 2.43

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. Nat Immunol (2012) 2.38

Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. Blood (2004) 2.32

Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Hum Mol Genet (2002) 2.27

Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J Med Genet (2005) 2.24

Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis. Am J Hum Genet (2011) 2.21

PSORS2 is due to mutations in CARD14. Am J Hum Genet (2012) 2.10

Infant colitis--it's in the genes. Lancet (2010) 2.10

Mutations in NALP12 cause hereditary periodic fever syndromes. Proc Natl Acad Sci U S A (2008) 2.06

PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. Am J Hum Genet (2010) 2.05

Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16. N Engl J Med (1992) 1.90

Exome sequencing: dual role as a discovery and diagnostic tool. Ann Neurol (2012) 1.89

Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. Arthritis Rheum (2012) 1.87

Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies. Gastroenterology (2013) 1.83

A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency. Am J Hum Genet (2012) 1.81

Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. Proc Natl Acad Sci U S A (2011) 1.80

Return of results: not that complicated? Genet Med (2012) 1.74

Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44. Am J Hum Genet (1999) 1.68

High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study. Arthritis Rheum (2011) 1.61

A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. J Clin Invest (2011) 1.57

Identification of a locus on chromosome 1q44 for familial cold urticaria. Am J Hum Genet (2000) 1.51

The gene for cherubism maps to chromosome 4p16.3. Am J Hum Genet (1999) 1.43

The gene for cherubism maps to chromosome 4p16. Am J Hum Genet (1999) 1.32

INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations. Nucleic Acids Res (2003) 1.26

Gene localization for an autosomal dominant familial periodic fever to 12p13. Am J Hum Genet (1998) 1.21

Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16. Am J Hum Genet (1996) 1.16

Familial pityriasis rubra pilaris is caused by mutations in CARD14. Am J Hum Genet (2012) 1.16

Linkage of familial Hibernian fever to chromosome 12p13. Am J Hum Genet (1998) 1.14

The gene for familial Mediterranean fever in both Armenians and non-Ashkenazi Jews is linked to the alpha-globin complex on 16p: evidence for locus homogeneity. Am J Hum Genet (1992) 1.09

Genome-wide association studies and Crohn's disease. Brief Funct Genomics (2011) 1.08

Genetic mapping of a maternal locus responsible for familial hydatidiform moles. Hum Mol Genet (1999) 1.06

Detection of identity by descent using next-generation whole genome sequencing data. BMC Bioinformatics (2012) 0.99

Localization of a gene for familial recurrent arthritis. Arthritis Rheum (2000) 0.93

Next-generation sequencing approaches for genetic mapping of complex diseases. J Neuroimmunol (2012) 0.91

Localization of the familial Mediterranean fever gene (FMF) to a 250-kb interval in non-Ashkenazi Jewish founder haplotypes. The French FMF Consortium. Am J Hum Genet (1996) 0.89

Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome maps to chromosome 15q. Am J Hum Genet (2000) 0.89

Presence of a sporadic case of systemic granulomatosis syndrome with a CARD15 mutation. J Invest Dermatol (2004) 0.87

The gene causing familial Mediterranean fever maps to the short arm of chromosome 16 in Druze and Moslem Arab families. Hum Genet (1994) 0.81

Periodic fever syndrome and autoinflammatory diseases. F1000 Med Rep (2010) 0.80

Mapping of the familial Mediterranean fever gene to chromosome 16. Am J Reprod Immunol (1993) 0.79

Genome-wide association studies in Behçet's disease: expectations and promises. Clin Exp Rheumatol (2011) 0.78

Articles by these authors

Recommendations for the use of rituximab in anti-neutrophil cytoplasm antibody-associated vasculitis. Rheumatology (Oxford) (2011) 1.79

A multicenter survey of rituximab therapy for refractory antineutrophil cytoplasmic antibody-associated vasculitis. Arthritis Rheum (2009) 1.74

Juvenile polyarteritis: results of a multicenter survey of 110 children. J Pediatr (2004) 1.57

EULAR/PRINTO/PRES criteria for Henoch-Schönlein purpura, childhood polyarteritis nodosa, childhood Wegener granulomatosis and childhood Takayasu arteritis: Ankara 2008. Part I: Overall methodology and clinical characterisation. Ann Rheum Dis (2010) 1.51

EULAR points to consider in the development of classification and diagnostic criteria in systemic vasculitis. Ann Rheum Dis (2010) 1.38

Bayesian methods for the design and interpretation of clinical trials in very rare diseases. Stat Med (2014) 1.14

The circulating calcification inhibitors, fetuin-A and osteoprotegerin, but not matrix Gla protein, are associated with vascular stiffness and calcification in children on dialysis. Nephrol Dial Transplant (2008) 1.11

A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1. J Med Genet (2013) 1.06

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. J Clin Invest (2015) 0.90

Thrombin binding predicts the effects of sequence changes in a human monoclonal antiphospholipid antibody on its in vivo biologic actions. J Immunol (2009) 0.90

Long- term outcome of paediatric patients with ANCA vasculitis. Pediatr Rheumatol Online J (2011) 0.87

Cardiovascular involvement in primary systemic vasculitis. Best Pract Res Clin Rheumatol (2009) 0.83

Vasculitis following HPV immunization. Rheumatology (Oxford) (2012) 0.79

Takayasu arteritis in infancy. Rheumatology (Oxford) (2013) 0.78

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. J Clin Invest (2016) 0.77

Mycobacterium kansasii causing septic arthritis and osteomyelitis in a child. Pediatr Infect Dis J (2010) 0.77

Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) syndrome is associated with severe chronic inflammation and cardiomyopathy, and represents a new monogenic autoinflammatory syndrome. J Pediatr Endocrinol Metab (2013) 0.77

Kawasaki disease: a case report and overview of symptoms, signs, investigations and treatment. Br J Hosp Med (Lond) (2012) 0.75