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Items: 1 to 50 of 121

1.

Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.

Jin Y, Andersen G, Yorgov D, Ferrara TM, Ben S, Brownson KM, Holland PJ, Birlea SA, Siebert J, Hartmann A, Lienert A, van Geel N, Lambert J, Luiten RM, Wolkerstorfer A, Wietze van der Veen JP, Bennett DC, Taïeb A, Ezzedine K, Kemp EH, Gawkrodger DJ, Weetman AP, Kõks S, Prans E, Kingo K, Karelson M, Wallace MR, McCormack WT, Overbeck A, Moretti S, Colucci R, Picardo M, Silverberg NB, Olsson M, Valle Y, Korobko I, Böhm M, Lim HW, Hamzavi I, Zhou L, Mi QS, Fain PR, Santorico SA, Spritz RA.

Nat Genet. 2016 Nov;48(11):1418-1424. doi: 10.1038/ng.3680. Epub 2016 Oct 10.

2.

Hypomethylation within gene promoter regions and type 1 diabetes in discordant monozygotic twins.

Elboudwarej E, Cole M, Briggs FB, Fouts A, Fain PR, Quach H, Quach D, Sinclair E, Criswell LA, Lane JA, Steck AK, Barcellos LF, Noble JA.

J Autoimmun. 2016 Apr;68:23-9. doi: 10.1016/j.jaut.2015.12.003. Epub 2016 Jan 9.

3.

ATPase4A Autoreactivity and Its Association With Autoimmune Phenotypes in the Type 1 Diabetes Genetics Consortium Study.

Wenzlau JM, Fain PR, Gardner TJ, Frisch LM, Annibale B, Hutton JC.

Diabetes Care. 2015 Oct;38 Suppl 2:S29-36. doi: 10.2337/dcs15-2006.

4.

Genetics of Autoimmune Thyroiditis in Type 1 Diabetes Reveals a Novel Association With DPB1*0201: Data From the Type 1 Diabetes Genetics Consortium.

Kahles H, Fain PR, Baker P, Eisenbarth G, Badenhoop K.

Diabetes Care. 2015 Oct;38 Suppl 2:S21-8. doi: 10.2337/dcs15-2005.

5.

Changes in Zinc Transporter 8 Autoantibodies Following Type 1 Diabetes Onset: The Type 1 Diabetes Genetics Consortium Autoantibody Workshop.

Wenzlau JM, Frisch LM, Hutton JC, Fain PR, Davidson HW.

Diabetes Care. 2015 Oct;38 Suppl 2:S14-20. doi: 10.2337/dcs15-2004.

6.

Heritability of thyroid peroxidase autoantibody levels in type 1 diabetes: evidence from discordant twin pairs.

Wang B, Hawa MI, Rijsdijk FV, Fain PR, Paschou SA, Boehm BO, Steck AK, Snieder H, Leslie RD.

Diabetologia. 2015 Sep;58(9):2079-86. doi: 10.1007/s00125-015-3664-y. Epub 2015 Jun 13.

7.

Major association of vitiligo with HLA-A*02:01 in Japanese.

Jin Y, Hayashi M, Fain PR, Suzuki T, Fukai K, Oiso N, Tanemura A, Holcomb CL, Rastrou M, Erlich HA, Spritz RA.

Pigment Cell Melanoma Res. 2015 May;28(3):360-2. doi: 10.1111/pcmr.12356. Epub 2015 Feb 17. No abstract available.

8.

Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy.

Campbell N, Sinagra G, Jones KL, Slavov D, Gowan K, Merlo M, Carniel E, Fain PR, Aragona P, Di Lenarda A, Mestroni L, Taylor MR.

PLoS One. 2013 Oct 29;8(10):e78104. doi: 10.1371/journal.pone.0078104. eCollection 2013.

9.

NLRP1 haplotypes associated with vitiligo and autoimmunity increase interleukin-1β processing via the NLRP1 inflammasome.

Levandowski CB, Mailloux CM, Ferrara TM, Gowan K, Ben S, Jin Y, McFann KK, Holland PJ, Fain PR, Dinarello CA, Spritz RA.

Proc Natl Acad Sci U S A. 2013 Feb 19;110(8):2952-6. doi: 10.1073/pnas.1222808110. Epub 2013 Feb 4.

10.

Risk of generalized vitiligo is associated with the common 55R-94A-247H variant haplotype of GZMB (encoding granzyme B).

Ferrara TM, Jin Y, Gowan K, Fain PR, Spritz RA.

J Invest Dermatol. 2013 Jun;133(6):1677-9. doi: 10.1038/jid.2013.5. Epub 2013 Jan 15. No abstract available.

11.

Association of generalized vitiligo with MHC class II loci in patients from the Indian subcontinent.

Birlea SA, Ahmad FJ, Uddin RM, Ahmad S, Pal SS, Begum R, Laddha NC, Dwivedi M, Shoab Mansuri M, Jin Y, Gowan K, Riccardi SL, Holland PJ, Ben S, Fain PR, Spritz RA.

J Invest Dermatol. 2013 May;133(5):1369-72. doi: 10.1038/jid.2012.501. Epub 2013 Jan 10. No abstract available.

12.

Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.

Jin Y, Birlea SA, Fain PR, Ferrara TM, Ben S, Riccardi SL, Cole JB, Gowan K, Holland PJ, Bennett DC, Luiten RM, Wolkerstorfer A, van der Veen JP, Hartmann A, Eichner S, Schuler G, van Geel N, Lambert J, Kemp EH, Gawkrodger DJ, Weetman AP, Taïeb A, Jouary T, Ezzedine K, Wallace MR, McCormack WT, Picardo M, Leone G, Overbeck A, Silverberg NB, Spritz RA.

Nat Genet. 2012 May 6;44(6):676-80. doi: 10.1038/ng.2272.

13.

Next-generation DNA re-sequencing identifies common variants of TYR and HLA-A that modulate the risk of generalized vitiligo via antigen presentation.

Jin Y, Ferrara T, Gowan K, Holcomb C, Rastrou M, Erlich HA, Fain PR, Spritz RA.

J Invest Dermatol. 2012 Jun;132(6):1730-3. doi: 10.1038/jid.2012.37. Epub 2012 Mar 8. No abstract available.

14.

Congruence as a measurement of extended haplotype structure across the genome.

Baschal EE, Jasinski JM, Boyle TA, Fain PR, Eisenbarth GS, Siebert JC.

J Transl Med. 2012 Feb 27;10:32. doi: 10.1186/1479-5876-10-32.

15.

Replication and further characterization of a Type 1 diabetes-associated locus at the telomeric end of the major histocompatibility complex.

Baschal EE, Sarkar SA, Boyle TA, Siebert JC, Jasinski JM, Grabek KR, Armstrong TK, Babu SR, Fain PR, Steck AK, Rewers MJ, Eisenbarth GS.

J Diabetes. 2011 Sep;3(3):238-47. doi: 10.1111/j.1753-0407.2011.00131.x.

16.

Dominant suppression of Addison's disease associated with HLA-B15.

Baker PR, Baschal EE, Fain PR, Nanduri P, Triolo TM, Siebert JC, Armstrong TK, Babu SR, Rewers MJ, Gottlieb PA, Barker JM, Eisenbarth GS.

J Clin Endocrinol Metab. 2011 Jul;96(7):2154-62. doi: 10.1210/jc.2010-2964. Epub 2011 May 11.

17.

Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset.

Jin Y, Birlea SA, Fain PR, Gowan K, Riccardi SL, Holland PJ, Bennett DC, Herbstman DM, Wallace MR, McCormack WT, Kemp EH, Gawkrodger DJ, Weetman AP, Picardo M, Leone G, Taïeb A, Jouary T, Ezzedine K, van Geel N, Lambert J, Overbeck A, Spritz RA.

J Invest Dermatol. 2011 Jun;131(6):1308-12. doi: 10.1038/jid.2011.12. Epub 2011 Feb 17.

18.

Genome-wide analysis of copy number variation in type 1 diabetes.

Grayson BL, Smith ME, Thomas JW, Wang L, Dexheimer P, Jeffrey J, Fain PR, Nanduri P, Eisenbarth GS, Aune TM.

PLoS One. 2010 Nov 15;5(11):e15393. doi: 10.1371/journal.pone.0015393.

19.

Comprehensive association analysis of candidate genes for generalized vitiligo supports XBP1, FOXP3, and TSLP.

Birlea SA, Jin Y, Bennett DC, Herbstman DM, Wallace MR, McCormack WT, Kemp EH, Gawkrodger DJ, Weetman AP, Picardo M, Leone G, Taïeb A, Jouary T, Ezzedine K, van Geel N, Lambert J, Overbeck A, Fain PR, Spritz RA.

J Invest Dermatol. 2011 Feb;131(2):371-81. doi: 10.1038/jid.2010.337. Epub 2010 Nov 18.

20.

Haplotype analysis discriminates genetic risk for DR3-associated endocrine autoimmunity and helps define extreme risk for Addison's disease.

Baker PR, Baschal EE, Fain PR, Triolo TM, Nanduri P, Siebert JC, Armstrong TK, Babu SR, Rewers MJ, Gottlieb PA, Barker JM, Eisenbarth GS.

J Clin Endocrinol Metab. 2010 Oct;95(10):E263-70. doi: 10.1210/jc.2010-0508. Epub 2010 Jul 14.

21.

Common variants in FOXP1 are associated with generalized vitiligo.

Jin Y, Birlea SA, Fain PR, Mailloux CM, Riccardi SL, Gowan K, Holland PJ, Bennett DC, Wallace MR, McCormack WT, Kemp EH, Gawkrodger DJ, Weetman AP, Picardo M, Leone G, Taïeb A, Jouary T, Ezzedine K, van Geel N, Lambert J, Overbeck A, Spritz RA.

Nat Genet. 2010 Jul;42(7):576-8. doi: 10.1038/ng.602. Epub 2010 Jun 6.

22.

Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.

Jin Y, Birlea SA, Fain PR, Gowan K, Riccardi SL, Holland PJ, Mailloux CM, Sufit AJ, Hutton SM, Amadi-Myers A, Bennett DC, Wallace MR, McCormack WT, Kemp EH, Gawkrodger DJ, Weetman AP, Picardo M, Leone G, Taïeb A, Jouary T, Ezzedine K, van Geel N, Lambert J, Overbeck A, Spritz RA.

N Engl J Med. 2010 May 6;362(18):1686-97. doi: 10.1056/NEJMoa0908547. Epub 2010 Apr 21.

23.

A susceptibility locus on chromosome 6q greatly increases lung cancer risk among light and never smokers.

Amos CI, Pinney SM, Li Y, Kupert E, Lee J, de Andrade MA, Yang P, Schwartz AG, Fain PR, Gazdar A, Minna J, Wiest JS, Zeng D, Rothschild H, Mandal D, You M, Coons T, Gaba C, Bailey-Wilson JE, Anderson MW.

Cancer Res. 2010 Mar 15;70(6):2359-67. doi: 10.1158/0008-5472.CAN-09-3096. Epub 2010 Mar 9.

24.

Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8.

Birlea SA, Gowan K, Fain PR, Spritz RA.

J Invest Dermatol. 2010 Mar;130(3):798-803. doi: 10.1038/jid.2009.347. Epub 2009 Nov 5.

25.

Homozygosity of the polymorphism MICA5.1 identifies extreme risk of progression to overt adrenal insufficiency among 21-hydroxylase antibody-positive patients with type 1 diabetes.

Triolo TM, Baschal EE, Armstrong TK, Toews CS, Fain PR, Rewers MJ, Yu L, Miao D, Eisenbarth GS, Gottlieb PA, Barker JM.

J Clin Endocrinol Metab. 2009 Nov;94(11):4517-23. doi: 10.1210/jc.2009-1308. Epub 2009 Oct 9.

26.

Haplotype and cell proliferation analyses of candidate lung cancer susceptibility genes on chromosome 15q24-25.1.

Liu Y, Liu P, Wen W, James MA, Wang Y, Bailey-Wilson JE, Amos CI, Pinney SM, Yang P, de Andrade M, Petersen GM, Wiest JS, Fain PR, Schwartz AG, Gazdar A, Gaba C, Rothschild H, Mandal D, Kupert E, Lee J, Seminara D, Minna J, Anderson MW, You M.

Cancer Res. 2009 Oct 1;69(19):7844-50. doi: 10.1158/0008-5472.CAN-09-1833. Epub 2009 Sep 29.

27.

Fine-mapping of vitiligo susceptibility loci on chromosomes 7 and 9 and interactions with NLRP1 (NALP1).

Jin Y, Riccardi SL, Gowan K, Fain PR, Spritz RA.

J Invest Dermatol. 2010 Mar;130(3):774-83. doi: 10.1038/jid.2009.273. Epub 2009 Sep 3.

28.

Functional and genetic evidence that the Mal/TIRAP allele variant 180L has been selected by providing protection against septic shock.

Ferwerda B, Alonso S, Banahan K, McCall MB, Giamarellos-Bourboulis EJ, Ramakers BP, Mouktaroudi M, Fain PR, Izagirre N, Syafruddin D, Cristea T, Mockenhaupt FP, Troye-Blomberg M, Kumpf O, Maiga B, Dolo A, Doumbo O, Sundaresan S, Bedu-Addo G, van Crevel R, Hamann L, Oh DY, Schumann RR, Joosten LA, de la Rúa C, Sauerwein R, Drenth JP, Kullberg BJ, van der Ven AJ, Hill AV, Pickkers P, van der Meer JW, O'Neill LA, Netea MG.

Proc Natl Acad Sci U S A. 2009 Jun 23;106(25):10272-7. doi: 10.1073/pnas.0811273106. Epub 2009 Jun 9.

29.

Fine mapping of chromosome 6q23-25 region in familial lung cancer families reveals RGS17 as a likely candidate gene.

You M, Wang D, Liu P, Vikis H, James M, Lu Y, Wang Y, Wang M, Chen Q, Jia D, Liu Y, Wen W, Yang P, Sun Z, Pinney SM, Zheng W, Shu XO, Long J, Gao YT, Xiang YB, Chow WH, Rothman N, Petersen GM, de Andrade M, Wu Y, Cunningham JM, Wiest JS, Fain PR, Schwartz AG, Girard L, Gazdar A, Gaba C, Rothschild H, Mandal D, Coons T, Lee J, Kupert E, Seminara D, Minna J, Bailey-Wilson JE, Amos CI, Anderson MW.

Clin Cancer Res. 2009 Apr 15;15(8):2666-74. doi: 10.1158/1078-0432.CCR-08-2335. Epub 2009 Apr 7.

30.

CTLA4 and generalized vitiligo: two genetic association studies and a meta-analysis of published data.

Birlea SA, Laberge GS, Procopciuc LM, Fain PR, Spritz RA.

Pigment Cell Melanoma Res. 2009 Apr;22(2):230-4. doi: 10.1111/j.1755-148X.2009.00543.x. Epub 2009 Jan 17.

31.

Concordance for islet autoimmunity among monozygotic twins.

Redondo MJ, Jeffrey J, Fain PR, Eisenbarth GS, Orban T.

N Engl J Med. 2008 Dec 25;359(26):2849-50. doi: 10.1056/NEJMc0805398. No abstract available.

PMID:
19109586
32.

Familial aggregation of common sequence variants on 15q24-25.1 in lung cancer.

Liu P, Vikis HG, Wang D, Lu Y, Wang Y, Schwartz AG, Pinney SM, Yang P, de Andrade M, Petersen GM, Wiest JS, Fain PR, Gazdar A, Gaba C, Rothschild H, Mandal D, Coons T, Lee J, Kupert E, Seminara D, Minna J, Bailey-Wilson JE, Wu X, Spitz MR, Eisen T, Houlston RS, Amos CI, Anderson MW, You M.

J Natl Cancer Inst. 2008 Sep 17;100(18):1326-30. doi: 10.1093/jnci/djn268. Epub 2008 Sep 9.

33.

Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family history.

Reed B, McFann K, Kimberling WJ, Pei Y, Gabow PA, Christopher K, Petersen E, Kelleher C, Fain PR, Johnson A, Schrier RW.

Am J Kidney Dis. 2008 Dec;52(6):1042-50. doi: 10.1053/j.ajkd.2008.05.015. Epub 2008 Jul 21.

34.

The PTPN22-1858C>T (R620W) functional polymorphism is associated with generalized vitiligo in the Romanian population.

Laberge GS, Birlea SA, Fain PR, Spritz RA.

Pigment Cell Melanoma Res. 2008 Apr;21(2):206-8. doi: 10.1111/j.1755-148X.2008.00443.x.

PMID:
18426414
35.

A Romanian population isolate with high frequency of vitiligo and associated autoimmune diseases.

Birlea SA, Fain PR, Spritz RA.

Arch Dermatol. 2008 Mar;144(3):310-6.

PMID:
18347286
36.

PTPN22 is genetically associated with risk of generalized vitiligo, but CTLA4 is not.

LaBerge GS, Bennett DC, Fain PR, Spritz RA.

J Invest Dermatol. 2008 Jul;128(7):1757-62. doi: 10.1038/sj.jid.5701233. Epub 2008 Jan 17.

37.

Analysis of single nucleotide polymorphisms identifies major type 1A diabetes locus telomeric of the major histocompatibility complex.

Aly TA, Baschal EE, Jahromi MM, Fernando MS, Babu SR, Fingerlin TE, Kretowski A, Erlich HA, Fain PR, Rewers MJ, Eisenbarth GS.

Diabetes. 2008 Mar;57(3):770-6. Epub 2007 Dec 7.

38.

Vitiligo-associated multiple autoimmune disease is not associated with genetic variation in AIRE.

Jin Y, Bennett DC, Amadi-Myers A, Holland P, Riccardi SL, Gowan K, Fain PR, Spritz RA.

Pigment Cell Res. 2007 Oct;20(5):402-4. No abstract available.

PMID:
17850514
39.

Differential effects of DRB1*0301 and DQA1*0501-DQB1*0201 on the activation and progression of islet cell autoimmunity.

Eller E, Vardi P, McFann KK, Babu SR, Yu L, Bugawan TL, Erlich HA, Eisenbarth GS, Fain PR.

Genes Immun. 2007 Dec;8(8):628-33. Epub 2007 Aug 30.

PMID:
17728790
40.

Genetic variations in NALP1 are associated with generalized vitiligo in a Romanian population.

Jin Y, Birlea SA, Fain PR, Spritz RA.

J Invest Dermatol. 2007 Nov;127(11):2558-62. Epub 2007 Jul 19.

41.

EGFR-T790M is a rare lung cancer susceptibility allele with enhanced kinase activity.

Vikis H, Sato M, James M, Wang D, Wang Y, Wang M, Jia D, Liu Y, Bailey-Wilson JE, Amos CI, Pinney SM, Petersen GM, de Andrade M, Yang P, Wiest JS, Fain PR, Schwartz AG, Gazdar A, Gaba C, Rothschild H, Mandal D, Kupert E, Seminara D, Viswanathan A, Govindan R, Minna J, Anderson MW, You M.

Cancer Res. 2007 May 15;67(10):4665-70.

42.

NALP1 in vitiligo-associated multiple autoimmune disease.

Jin Y, Mailloux CM, Gowan K, Riccardi SL, LaBerge G, Bennett DC, Fain PR, Spritz RA.

N Engl J Med. 2007 Mar 22;356(12):1216-25.

43.

Identification of a novel tumor suppressor gene p34 on human chromosome 6q25.1.

Wang M, Vikis HG, Wang Y, Jia D, Wang D, Bierut LJ, Bailey-Wilson JE, Amos CI, Pinney SM, Petersen GM, de Andrade M, Yang P, Wiest JS, Fain PR, Schwartz AG, Gazdar A, Minna J, Gaba C, Rothschild H, Mandal D, Kupert E, Seminara D, Liu Y, Viswanathan A, Govindan R, Anderson MW, You M.

Cancer Res. 2007 Jan 1;67(1):93-9.

44.

Celiac disease and HLA in a Bedouin kindred.

Eller E, Vardi P, Babu SR, Bugawan TL, Erlich HA, Yu L, Fain PR.

Hum Immunol. 2006 Nov;67(11):940-50. Epub 2006 Sep 18.

45.

Extreme genetic risk for type 1A diabetes.

Aly TA, Ide A, Jahromi MM, Barker JM, Fernando MS, Babu SR, Yu L, Miao D, Erlich HA, Fain PR, Barriga KJ, Norris JM, Rewers MJ, Eisenbarth GS.

Proc Natl Acad Sci U S A. 2006 Sep 19;103(38):14074-9. Epub 2006 Sep 11.

46.

Conserved extended haplotypes discriminate HLA-DR3-homozygous Basque patients with type 1 diabetes mellitus and celiac disease.

Bilbao JR, Calvo B, Aransay AM, Martin-Pagola A, Perez de Nanclares G, Aly TA, Rica I, Vitoria JC, Gaztambide S, Noble J, Fain PR, Awdeh ZL, Alper CA, Castaño L.

Genes Immun. 2006 Oct;7(7):550-4. Epub 2006 Aug 24.

PMID:
16929349
47.

Multi-SNP analysis of MHC region: remarkable conservation of HLA-A1-B8-DR3 haplotype.

Aly TA, Eller E, Ide A, Gowan K, Babu SR, Erlich HA, Rewers MJ, Eisenbarth GS, Fain PR.

Diabetes. 2006 May;55(5):1265-9.

48.

HLA class II haplotype DRB1*04-DQB1*0301 contributes to risk of familial generalized vitiligo and early disease onset.

Fain PR, Babu SR, Bennett DC, Spritz RA.

Pigment Cell Res. 2006 Feb;19(1):51-7.

PMID:
16420246
49.

Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy.

Taylor MR, Slavov D, Gajewski A, Vlcek S, Ku L, Fain PR, Carniel E, Di Lenarda A, Sinagra G, Boucek MM, Cavanaugh J, Graw SL, Ruegg P, Feiger J, Zhu X, Ferguson DA, Bristow MR, Gotzmann J, Foisner R, Mestroni L; Familial Cardiomyopathy Registry Research Group.

Hum Mutat. 2005 Dec;26(6):566-74.

PMID:
16247757
50.

Homozygosity for premature stop codon of the MHC class I chain-related gene A (MIC-A) is associated with early activation of islet autoimmunity of DR3/4-DQ2/8 high risk DAISY relatives.

Ide A, Babu SR, Robles DT, Wang T, Erlich HA, Bugawan TL, Rewers M, Fain PR, Eisenbarth GS.

J Clin Immunol. 2005 Jul;25(4):303-8.

PMID:
16133985

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