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Items: 1 to 20 of 104

1.

The role of functionally defective rare germline variants of sialic acid acetylesterase in autoimmune Addison's disease.

Gan EH, MacArthur K, Mitchell AL, Pearce SH.

Eur J Endocrinol. 2012 Dec;167(6):825-8. doi: 10.1530/EJE-12-0579. Epub 2012 Sep 25.

2.

Functionally defective germline variants of sialic acid acetylesterase in autoimmunity.

Surolia I, Pirnie SP, Chellappa V, Taylor KN, Cariappa A, Moya J, Liu H, Bell DW, Driscoll DR, Diederichs S, Haider K, Netravali I, Le S, Elia R, Dow E, Lee A, Freudenberg J, De Jager PL, Chretien Y, Varki A, MacDonald ME, Gillis T, Behrens TW, Bloch D, Collier D, Korzenik J, Podolsky DK, Hafler D, Murali M, Sands B, Stone JH, Gregersen PK, Pillai S.

Nature. 2010 Jul 8;466(7303):243-7. doi: 10.1038/nature09115. Epub 2010 Jun 16.

3.

Association of autoimmune Addison's disease with alleles of STAT4 and GATA3 in European cohorts.

Mitchell AL, Macarthur KD, Gan EH, Baggott LE, Wolff AS, Skinningsrud B, Platt H, Short A, Lobell A, Kämpe O, Bensing S, Betterle C, Kasperlik-Zaluska A, Zurawek M, Fichna M, Kockum I, Nordling Eriksson G, Ekwall O, Wahlberg J, Dahlqvist P, Hulting AL, Penna-Martinez M, Meyer G, Kahles H, Badenhoop K, Hahner S, Quinkler M, Falorni A, Phipps-Green A, Merriman TR, Ollier W, Cordell HJ, Undlien D, Czarnocka B, Husebye E, Pearce SH.

PLoS One. 2014 Mar 10;9(3):e88991. doi: 10.1371/journal.pone.0088991. eCollection 2014. Erratum in: PLoS One. 2014;9(7):e102428.

4.

Programmed death ligand 1 (PD-L1) gene variants contribute to autoimmune Addison's disease and Graves' disease susceptibility.

Mitchell AL, Cordell HJ, Soemedi R, Owen K, Skinningsrud B, Wolff AB, Ericksen M, Undlien D, Husebye E, Pearce SH.

J Clin Endocrinol Metab. 2009 Dec;94(12):5139-45. doi: 10.1210/jc.2009-1404. Epub 2009 Oct 22.

PMID:
19850680
5.

A Variant in the BACH2 Gene Is Associated With Susceptibility to Autoimmune Addison's Disease in Humans.

Pazderska A, Oftedal BE, Napier CM, Ainsworth HF, Husebye ES, Cordell HJ, Pearce SH, Mitchell AL.

J Clin Endocrinol Metab. 2016 Nov;101(11):3865-3869. Epub 2016 Sep 28.

6.

M89V Sialic acid Acetyl Esterase (SIAE) and all other non-synonymous common variants of this gene are catalytically normal.

Chellappa V, Taylor KN, Pedrick K, Donado C, Netravali IA, Haider K, Cariappa A, Dalomba NF, Pillai S.

PLoS One. 2013;8(1):e53453. doi: 10.1371/journal.pone.0053453. Epub 2013 Jan 7.

7.

The tryptophan 620 allele of the lymphoid tyrosine phosphatase (PTPN22) gene predisposes to autoimmune Addison's disease.

Roycroft M, Fichna M, McDonald D, Owen K, Zurawek M, Gryczyńska M, Januszkiewicz-Lewandowska D, Fichna P, Cordell H, Donaldson P, Nowak J, Pearce S.

Clin Endocrinol (Oxf). 2009 Mar;70(3):358-62. doi: 10.1111/j.1365-2265.2008.03380.x. Epub 2008 Aug 15.

PMID:
18710467
8.

The role of a nonsynonymous CD226 (DNAX-accessory molecule-1) variant (Gly 307Ser) in isolated Addison's disease and autoimmune polyendocrinopathy type 2 pathogenesis.

Gan EH, Mitchell AL, Macarthur K, Pearce SH.

Clin Endocrinol (Oxf). 2011 Aug;75(2):165-8. doi: 10.1111/j.1365-2265.2011.04030.x.

PMID:
21521299
9.

Linkage Analysis in Autoimmune Addison's Disease: NFATC1 as a Potential Novel Susceptibility Locus.

Mitchell AL, Bøe Wolff A, MacArthur K, Weaver JU, Vaidya B; Swedish Addision Registry Study Group, Erichsen MM, Darlay R, Husebye ES, Cordell HJ, Pearce SH.

PLoS One. 2015 Jun 4;10(6):e0123550. doi: 10.1371/journal.pone.0123550. eCollection 2015. Erratum in: PLoS One. 2015;10(9):e0138844. Sophie Bensing on behalf of The Swedish Addison Registry Study Group [corrected to Swedish Addision Registry Study Group].

10.

Association analysis of the cytotoxic T lymphocyte antigen-4 (CTLA-4) and autoimmune regulator-1 (AIRE-1) genes in sporadic autoimmune Addison's disease.

Vaidya B, Imrie H, Geatch DR, Perros P, Ball SG, Baylis PH, Carr D, Hurel SJ, James RA, Kelly WF, Kemp EH, Young ET, Weetman AP, Kendall-Taylor P, Pearce SH.

J Clin Endocrinol Metab. 2000 Feb;85(2):688-91.

PMID:
10690877
11.

A missense single-nucleotide polymorphism in the sialic acid acetylesterase (SIAE) gene is associated with anti-PIT-1 antibody syndrome.

Yamamoto M, Iguchi G, Bando H, Fukuoka H, Suda K, Takahashi M, Nishizawa H, Matsumoto R, Tojo K, Mokubo A, Ogata T, Takahashi Y.

Endocr J. 2014;61(6):641-4. Epub 2014 Apr 20.

12.

Functionally defective germline variant of sialic acid acetylesterase (Met89Val) is not associated with type 1 diabetes mellitus and Graves' disease in a Polish population.

Szymański K, Skórka A, Szypowska A, Bednarczuk T, Płoski R.

Tissue Antigens. 2011 Sep;78(3):214-6. doi: 10.1111/j.1399-0039.2011.01703.x. Epub 2011 May 25.

PMID:
21615338
13.

Polymorphisms in the interferon-induced helicase (IFIH1) locus and susceptibility to Addison's disease.

Zurawek M, Fichna M, Januszkiewicz D, Fichna P, Nowak J.

Clin Endocrinol (Oxf). 2013 Feb;78(2):191-6. doi: 10.1111/j.1365-2265.2012.04497.x.

PMID:
22789000
14.

CYP21A2 polymorphisms in patients with autoimmune Addison's disease, and linkage disequilibrium to HLA risk alleles.

Brønstad I, Skinningsrud B, Bratland E, Løvås K, Undlien D, Sverre Husebye E, Wolff AS.

Eur J Endocrinol. 2014 Dec;171(6):743-50. doi: 10.1530/EJE-14-0432. Epub 2014 Sep 23.

15.

Association of the CYP27B1 C(-1260)A polymorphism with autoimmune Addison's disease.

Fichna M, Zurawek M, Januszkiewicz-Lewandowska D, Gryczyñska M, Fichna P, Sowiñski J, Nowak J.

Exp Clin Endocrinol Diabetes. 2010 Aug;118(8):544-9. doi: 10.1055/s-0029-1241206. Epub 2009 Dec 8.

PMID:
19998245
16.

Cytotoxic T lymphocyte antigen-4 Ala17 polymorphism is a genetic marker of autoimmune adrenal insufficiency: Italian association study and meta-analysis of European studies.

Brozzetti A, Marzotti S, Tortoioli C, Bini V, Giordano R, Dotta F, Betterle C, De Bellis A, Arnaldi G, Toscano V, Arvat E, Bellastella A, Mantero F, Falorni A; Italian Addison Network.

Eur J Endocrinol. 2010 Feb;162(2):361-9. doi: 10.1530/EJE-09-0618. Epub 2009 Nov 2.

17.

CTLA-4 as a genetic determinant in autoimmune Addison's disease.

Wolff AS, Mitchell AL, Cordell HJ, Short A, Skinningsrud B, Ollier W, Badenhoop K, Meyer G, Falorni A, Kampe O, Undlien D, Pearce SH, Husebye ES.

Genes Immun. 2015 Sep;16(6):430-6. doi: 10.1038/gene.2015.27. Epub 2015 Jul 23.

18.

Lack of association between rare mutations of the SIAE gene and rheumatoid arthritis in a Han Chinese population.

Zhang DD, He F, Liu HT, Hao F, Zhu J.

Genet Mol Res. 2015 Oct 30;14(4):14162-8. doi: 10.4238/2015.October.29.38.

19.

A coding variant in NLRP1 is associated with autoimmune Addison's disease.

Zurawek M, Fichna M, Januszkiewicz-Lewandowska D, Gryczyńska M, Fichna P, Nowak J.

Hum Immunol. 2010 May;71(5):530-4. doi: 10.1016/j.humimm.2010.02.004. Epub 2010 Mar 1.

PMID:
20152874
20.

Interleukin-2 and subunit alpha of its soluble receptor in autoimmune Addison's disease--an association study and expression analysis.

Fichna M, Żurawek M, Bratland E, Husebye ES, Kasperlik-Załuska A, Czarnocka B, Januszkiewicz-Lewandowska D, Nowak J.

Autoimmunity. 2015 Mar;48(2):100-7. doi: 10.3109/08916934.2014.976628. Epub 2014 Oct 27.

PMID:
25347332

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