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Page 1
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.
Briggs TA, Rice GI, Daly S, Urquhart J, Gornall H, Bader-Meunier B, Baskar K, Baskar S, Baudouin V, Beresford MW, Black GC, Dearman RJ, de Zegher F, Foster ES, Francès C, Hayman AR, Hilton E, Job-Deslandre C, Kulkarni ML, Le Merrer M, Linglart A, Lovell SC, Maurer K, Musset L, Navarro V, Picard C, Puel A, Rieux-Laucat F, Roifman CM, Scholl-Bürgi S, Smith N, Szynkiewicz M, Wiedeman A, Wouters C, Zeef LA, Casanova JL, Elkon KB, Janckila A, Lebon P, Crow YJ. Briggs TA, et al. Among authors: zeef la. Nat Genet. 2011 Feb;43(2):127-31. doi: 10.1038/ng.748. Epub 2011 Jan 9. Nat Genet. 2011. PMID: 21217755 Free PMC article.
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.
Burkitt Wright EMM, Spencer HL, Daly SB, Manson FDC, Zeef LAH, Urquhart J, Zoppi N, Bonshek R, Tosounidis I, Mohan M, Madden C, Dodds A, Chandler KE, Banka S, Au L, Clayton-Smith J, Khan N, Biesecker LG, Wilson M, Rohrbach M, Colombi M, Giunta C, Black GCM. Burkitt Wright EMM, et al. Am J Hum Genet. 2011 Jun 10;88(6):767-777. doi: 10.1016/j.ajhg.2011.05.007. Am J Hum Genet. 2011. PMID: 21664999 Free PMC article.
Mutations in CECR1 associated with a neutrophil signature in peripheral blood.
Belot A, Wassmer E, Twilt M, Lega JC, Zeef LA, Oojageer A, Kasher PR, Mathieu AL, Malcus C, Demaret J, Fabien N, Collardeau-Frachon S, Mechtouff L, Derex L, Walzer T, Rice GI, Durieu I, Crow YJ. Belot A, et al. Among authors: zeef la. Pediatr Rheumatol Online J. 2014 Sep 24;12:44. doi: 10.1186/1546-0096-12-44. eCollection 2014. Pediatr Rheumatol Online J. 2014. PMID: 25278816 Free PMC article.
Type I interferon-mediated autoinflammation due to DNase II deficiency.
Rodero MP, Tesser A, Bartok E, Rice GI, Della Mina E, Depp M, Beitz B, Bondet V, Cagnard N, Duffy D, Dussiot M, Frémond ML, Gattorno M, Guillem F, Kitabayashi N, Porcheray F, Rieux-Laucat F, Seabra L, Uggenti C, Volpi S, Zeef LAH, Alyanakian MA, Beltrand J, Bianco AM, Boddaert N, Brouzes C, Candon S, Caorsi R, Charbit M, Fabre M, Faletra F, Girard M, Harroche A, Hartmann E, Lasne D, Marcuzzi A, Neven B, Nitschke P, Pascreau T, Pastore S, Picard C, Picco P, Piscianz E, Polak M, Quartier P, Rabant M, Stocco G, Taddio A, Uettwiller F, Valencic E, Vozzi D, Hartmann G, Barchet W, Hermine O, Bader-Meunier B, Tommasini A, Crow YJ. Rodero MP, et al. Nat Commun. 2017 Dec 19;8(1):2176. doi: 10.1038/s41467-017-01932-3. Nat Commun. 2017. PMID: 29259162 Free PMC article.
Type I interferon in patients with systemic autoimmune rheumatic disease is associated with haematological abnormalities and specific autoantibody profiles.
Reynolds JA, Briggs TA, Rice GI, Darmalinggam S, Bondet V, Bruce E, Khan M, Haque S, Chinoy H, Herrick AL, McCarthy EM, Zeef L, Hayes A, Duffy D, Parker B, Bruce IN. Reynolds JA, et al. Arthritis Res Ther. 2019 Jun 14;21(1):147. doi: 10.1186/s13075-019-1929-4. Arthritis Res Ther. 2019. PMID: 31200750 Free PMC article.
Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2.
Duncan CJA, Thompson BJ, Chen R, Rice GI, Gothe F, Young DF, Lovell SC, Shuttleworth VG, Brocklebank V, Corner B, Skelton AJ, Bondet V, Coxhead J, Duffy D, Fourrage C, Livingston JH, Pavaine J, Cheesman E, Bitetti S, Grainger A, Acres M, Innes BA, Mikulasova A, Sun R, Hussain R, Wright R, Wynn R, Zarhrate M, Zeef LAH, Wood K, Hughes SM, Harris CL, Engelhardt KR, Crow YJ, Randall RE, Kavanagh D, Hambleton S, Briggs TA. Duncan CJA, et al. Among authors: zeef lah. Sci Immunol. 2019 Dec 13;4(42):eaav7501. doi: 10.1126/sciimmunol.aav7501. Sci Immunol. 2019. PMID: 31836668 Free PMC article.
p63 exerts spatio-temporal control of palatal epithelial cell fate to prevent cleft palate.
Richardson R, Mitchell K, Hammond NL, Mollo MR, Kouwenhoven EN, Wyatt ND, Donaldson IJ, Zeef L, Burgis T, Blance R, van Heeringen SJ, Stunnenberg HG, Zhou H, Missero C, Romano RA, Sinha S, Dixon MJ, Dixon J. Richardson R, et al. PLoS Genet. 2017 Jun 12;13(6):e1006828. doi: 10.1371/journal.pgen.1006828. eCollection 2017 Jun. PLoS Genet. 2017. PMID: 28604778 Free PMC article.
94 results