| 1 | AIRE, PGA1
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| Keratopathy in Autoimmune Polyendocrinopathy Syndrome Type 1.
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| Couturier A, Saugier-Veber P, Carel JC, Bertherat J, Brézin AP.
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| Cornea 34(9):1086-91. doi: 10.1097/ICO.0000000000000513.
2015
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| 2 | AIRE, PGA1
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| Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.
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| Oftedal BE, Hellesen A, Erichsen MM, Bratland E, Vardi A, Perheentupa J, Kemp EH, Fiskerstrand T, Viken MK, Weetman AP, Fleishman SJ, Banka S, Newman WG, Sewell WA, Sozaeva LS, Zayats T, Haugarvoll K, Orlova EM, Haavik J, Johansson S, Knappskog PM, Løvås K, Wolff AS, Abramson J, Husebye ES.
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| Immunity 42(6):1185-96. doi: 10.1016/j.immuni.2015.04.021.
2015
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| 3 | AIRE, PGA1
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| New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1.
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| Mora M, Hanzu FA, Pradas-Juni M, Aranda GB, Halperin I, Puig-Domingo M, Aguiló S, Fernández-Rebollo E.
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| PLoS One 9(7):e101616. doi: 10.1371/journal.pone.0101616. eCollection 2014.
2014
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| 4 | AIRE, PGA1
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| A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1.
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| Zhang J, Liu H, Liu Z, Liao Y, Guo L, Wang H, He L, Zhang X, Xing Q.
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| PLoS One 8(1):e53981. doi: 10.1371/journal.pone.0053981. Epub 2013 Jan 8.
2013
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| 5 | AIRE, PGA1
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| Recent insights into the role and molecular mechanisms of the autoimmune regulator (AIRE) gene in autoimmunity.
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| Fierabracci A.
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| Autoimmun Rev 10(3):137-43. Epub 2010 Sep 17. Review.
2011
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| 6 | AIRE, PGA1
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| Two novel AIRE mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) among Indians.
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| Zaidi G, Sahu RP, Zhang L, George G, Bhavani N, Shah N, Bhatia V, Bhansali A, Jevalikar G, Jayakumar RV, Eisenbarth GS, Bhatia E.
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| Clin Genet 76(5):441-8. Epub 2009 Oct 6.PMID: 19807739 2009
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| 7 | AIRE, ATR, BCOR, CCD, COL1A1, COL1A2, CRDAI, CYP27B1, DLX", FTC1, GALNT3, HPC3, NHS, OFCD, OI1A, OI1B, PCNT, PDDR, PGA1, RUNX2, SCKL, SCKL1, SCKL2, SCKL3, SHH, SIOD, SMARCAL1, TDOS, VDDR2, VDR, WHS
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| The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement.
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| Bailleul-Forestier I, Berdal A, Vinckier F, de Ravel T, Fryns JP, Verloes A.
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| Eur J Med Genet 51(5):383-408. Epub 2008 May 23. Review. 2008
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| 8 | NLRP5, PGA1
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| Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen.
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| Alimohammadi M, Björklund P, Hallgren A, Pöntynen N, Szinnai G, Shikama N, Keller MP, Ekwall O, Kinkel SA, Husebye ES, Gustafsson J, Rorsman F, Peltonen L, Betterle C, Perheentupa J, Akerström G, Westin G, Scott HS, Holländer GA, Kämpe O.
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| N Engl J Med 358(10):1018-28.PMID: 18322283 2008
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| 9 | AIRE, PGA1
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| Investigation of the p.Ser278Arg polymorphism of the autoimmune regulator (AIRE) gene in alopecia areata.
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| Pforr J, Blaumeiser B, Becker T, Freudenberg-Hua Y, Hanneken S, Eigelshoven S, Cuyt I, De Weert J, Lambert J, Kruse R, Nothen MM, Betz RC.
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| Tissue Antigens 68(1):58-61. 2006
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| 10 | AIRE, PGA1
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| Association analysis of the AIRE and insulin genes in Finnish type 1 diabetic patients.
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| Turunen JA, Wessman M, Forsblom C, Kilpikari R, Parkkonen M, Pontynen N, Ilmarinen T, Ulmanen I, Peltonen L, Groop PH.
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| Immunogenetics 58(5-6):331-8. Epub 2006 Mar 22. 2006
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| 11 | AIRE, PGA1
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| Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence.
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| Stolarski B, Pronicka E, Korniszewski L, Pollak A, Kostrzewa G, Rowinska E, Wlodarski P, Skorka A, Gremida M, Krajewski P, Ploski R.
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| Clin Genet 70(4):348-54. 2006
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| 12 | AIRE, PGA1
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| Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation.
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| Ilmarinen T, Eskelin P, Halonen M, Ruppell T, Kilpikari R, Torres GD, Kangas H, Ulmanen I.
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| Hum Mutat 26(4):322-31. 2005
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| 13 | PGA1, AIRE
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| Autoimmune regulator-1 messenger ribonucleic acid analysis in a novel intronic mutation and two additional novel AIRE gene mutations in a cohort of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.
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| Podkrajsek KT, Bratanic N, Krzisnik C, Battelino T.
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| J Clin Endocrinol Metab 90(8):4930-5. Epub 2005 May 10. 2005
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| 14 | AIRE, PGA1
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| APECED-causing mutations in AIRE reveal the functional domains of the protein.
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| Halonen M, Kangas H, Ruppell T, Ilmarinen T, Ollila J, Kolmer M, Vihinen M, Palvimo J, Saarela J, Ulmanen I, Eskelin P.
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| Hum Mutat 23(3):245-57. 2004
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| 15 | PGA1, AIRE
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| AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype.
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| Halonen M, Eskelin P, Myhre AG, Perheentupa J, Husebye ES, Kampe O, Rorsman F, Peltonen L, Ulmanen I, Partanen J.
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| J Clin Endocrinol Metab 87(6):2568-74. 2002
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| 16 | AIRE, PGA1
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| Autoimmune regulator (AIRE) gene on chromosome 21: implications for autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) any more common manifestations of endocrine autoimmunity.
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| Meyer G, Badenhoop K.
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| J Endocrinol Invest 25(9):804-11. Review. 2002
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| 17 | AIRE, PGA1
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| Mutational analysis of the autoimmune regulator (AIRE) gene in sporadic autoimmune Addison's disease can reveal patients with unidentified autoimmune polyendocrine syndrome type I.
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| Boe AS, Knappskog PM, Myhre AG, Sorheim JI, Husebye ES.
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| Eur J Endocrinol 146(4):519-22. 2002
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| 18 | AIRE, PGA1
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| Malabsorption due to cholecystokinin deficiency in a patient with autoimmune polyglandular syndrome type I.
|
| Hogenauer C, Meyer RL, Netto GJ, Bell D, Little KH, Ferries L, Santa Ana CA, Porter JL, Fordtran JS.
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| N Engl J Med 344(4):270-4. No abstract available. 2001
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| 19 | AIRE, PGA1
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| Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED.
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| Cihakova D, Trebusak K, Heino M, Fadeyev V, Tiulpakov A, Battelino T, Tar A, Halasz Z, Blumel P, Tawfik S, Krohn K, Lebl J, Peterson P.
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| Hum Mutat 18(3):225-32. 2001
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| 20 | AIRE, PGA1
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| APECED mutations in the autoimmune regulator (AIRE) gene.
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| Heino M, Peterson P, Kudoh J, Shimizu N, Antonarakis SE, Scott HS, Krohn K.
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| Hum Mutat 18(3):205-11. Review. 2001
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| 21 | AIRE, PGA1
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| Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein.
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| Bjorses P, Halonen M, Palvimo JJ, Kolmer M, Aaltonen J, Ellonen P, Perheentupa J, Ulmanen I, Peltonen L.
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| Am J Hum Genet 66(2):378-92. 2000
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| 22 | AIRE, PGA1
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| AIRE encodes a nuclear protein co-localizing with cytoskeletal filaments : altered sub-cellular distribution of mutants lacking the PHD zinc fingers.
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| Rinderle C, et al.
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| Hum Mol Genet 8 : 277-290. 1999
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| 23 | AIRE, PGA1
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| Localization of the APECED protein in distinct nuclear structures.
|
| Bjšrses P, et al.
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| Hum Mol Genet 8 : 259-266. 1999
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| 24 | ADARB1, C21orf33, CABIN1, COL18A1, COL6A1, COL6A2, CSTB, ILVBL, ITGB2, KRTAP12-1, PDXK, PFKL, PGA1, PRMT2, S100B, TRAPPC10, TRPM2, UBE2G2
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| Perfect conserved linkage across the entire mouse chromosome 10 region homologous to human chromosome 21.
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| Wiltshire T, Pletcher M, Cole SE, Villanueva M, Birren B, Lehoczky J, Dewar K, Reeves RH.
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| Genome Res 9(12):1214-22 1999
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| 25 | AIRE, PGA1
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| Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.
|
| Scott HS, et al.
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| Mol Endocrinol 12 : 1112-1119. 1998
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| 26 | PGA1
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| Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1).
|
| Wang CY, Davoodi-Semiromi A, Huang W, Connor E, Shi JD, She JX.
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| Hum Genet 103 : 681-685. 1998
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| 27 | AIRE, PGA1
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| A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1.
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| Pearce SH, Cheetham T, Imrie H, Vaidya B, Barnes ND, Bilous RW, Carr D, Meeran K, Shaw NJ, Smith CS, Toft AD, Williams G, Kendall-Taylor P.
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| Am J Hum Genet 63 : 1675-1684. 1998
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| 28 | PGA1
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| High-resolution physical and transcriptional mapping of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy locus on chromosome 21q22.3 by FISH.
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| Aaltonen J, Horelli-Kuitunen N, Fan JB, Bjorses P, Perheentupa J, Myers R, Palotie A, Peltonen L.
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| Genome Res 7(8):820-9. 1997
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| 29 | AIRE, PGA1
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| An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains.
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| The Finnish-German APECED Consortium.
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| Nat Genet 17(4):399-403. 1997
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| 30 | AIRE, PGA1
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| Positional cloning of the APECED gene.
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| Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M, Krohn KJ, Lalioti MD, Mullis PE, Antonarakis SE, Kawasaki K, Asakawa S, Ito F, Shimizu N.
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| Nat Genet 17(4):393-8. 1997
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| 31 | PGA1
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| BAC/cosmid contigs, exon trapping, and genomic sequencing in the APECED/bipolar affective disorder region of human chromosome 21q22.3. (abstr)
|
| Kudoh J, et al.
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| Cytogenet Cell Genet 79 : 44. 1997
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| 32 | EHOC10, HPE1, PGA1
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| 350-kb BAC contig and detailed transcriptional map in the candidate region for APECED, holoprosencephaly, and manic depressive illness on 21q22.3. (abstr)
|
| Yamakawa K, et al.
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| Cytogenet Cell Genet 79 : 45. 1997
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| 33 | PGA1
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| Genetic homogeneity of autoimmune polyglandular disease type I.
|
| Bjšrses P, et al.
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| Am J Hum Genet 59 : 879-886. 1996
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| 34 | PGA1
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| An autosomal locus causing autoimmune disease : autoimmune polyglandular disease type I assigned to chromosome 21.
|
| Aaltonen J, et al.
|
| Nat Genet 8 : 83-87. 1994
|