Literature DB >> 22402439

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

Ying Jin, Tracey Ferrara, Katherine Gowan, Cherie Holcomb, Melinda Rastrou, Henry A Erlich, Pamela R Fain, Richard A Spritz.   

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Year:  2012        PMID： 22402439      PMCID： PMC3513338          DOI： 10.1038/jid.2012.37

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  14 in total

1.  The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation.

Authors:  K Toyofuku; I Wada; R A Spritz; V J Hearing
Journal:  Biochem J       Date:  2001-04-15       Impact factor: 3.857

2.  Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism.

Authors:  R A Spritz; K M Strunk; L B Giebel; R A King
Journal:  N Engl J Med       Date:  1990-06-14       Impact factor: 91.245

3.  Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.

Authors:  Cheng Quan; Yun-Qing Ren; Lei-Hong Xiang; Liang-Dan Sun; Ai-E Xu; Xing-Hua Gao; Hong-Duo Chen; Xiong-Ming Pu; Ri-Na Wu; Chao-Zhao Liang; Jia-Bin Li; Tian-Wen Gao; Jian-Zhong Zhang; Xiu-Li Wang; Jun Wang; Rong-Ya Yang; Ling Liang; Jian-Bin Yu; Xian-Bo Zuo; Sheng-Quan Zhang; Shu-Mei Zhang; Gang Chen; Xiao-Dong Zheng; Pan Li; Jun Zhu; Yong-Wei Li; Xiao-Dong Wei; Wei-Song Hong; Ying Ye; Yong Zhang; Wei-Su Wu; Hui Cheng; Pu-Ling Dong; Da-Yan Hu; Yang Li; Min Li; Xin Zhang; Hua-Yang Tang; Xian-Fa Tang; Sheng-Xin Xu; Su-Min He; Yong-Mei Lv; Min Shen; Hong-Quan Jiang; Ying Wang; Kai Li; Xiao-Jing Kang; Yu-Qin Liu; Li Sun; Zhi-Fang Liu; Shao-Qiong Xie; Cheng-Yao Zhu; Qiang Xu; Jin-Ping Gao; Wen-Long Hu; Cheng Ni; Ting-Meng Pan; Yun Li; Sha Yao; Cai-Feng He; Yang-Sheng Liu; Ze-Ying Yu; Xian-Yong Yin; Feng-Yu Zhang; Sen Yang; Youwen Zhou; Xue-Jun Zhang
Journal:  Nat Genet       Date:  2010-06-06       Impact factor: 38.330

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

Authors:  Stanca A Birlea; Ying Jin; Dorothy C Bennett; Deborah M Herbstman; Margaret R Wallace; Wayne T McCormack; E Helen Kemp; David J Gawkrodger; Anthony P Weetman; Mauro Picardo; Giovanni Leone; Alain Taïeb; Thomas Jouary; Khaled Ezzedine; Nanja van Geel; Jo Lambert; Andreas Overbeck; Pamela R Fain; Richard A Spritz
Journal:  J Invest Dermatol       Date:  2010-11-18       Impact factor: 8.551

5.  Common variants in FOXP1 are associated with generalized vitiligo.

Authors:  Ying Jin; Stanca A Birlea; Pamela R Fain; Christina M Mailloux; Sheri L Riccardi; Katherine Gowan; Paulene J Holland; Dorothy C Bennett; Margaret R Wallace; Wayne T McCormack; E Helen Kemp; David J Gawkrodger; Anthony P Weetman; Mauro Picardo; Giovanni Leone; Alain Taïeb; Thomas Jouary; Khaled Ezzedine; Nanny van Geel; Jo Lambert; Andreas Overbeck; Richard A Spritz
Journal:  Nat Genet       Date:  2010-06-06       Impact factor: 38.330

6.  The role of tyrosinase in autoimmune vitiligo.

Authors:  Y H Song; E Connor; Y Li; B Zorovich; P Balducci; N Maclaren
Journal:  Lancet       Date:  1994-10-15       Impact factor: 79.321

7.  A polymorphism of the human tyrosinase gene is associated with temperature-sensitive enzymatic activity.

Authors:  R K Tripathi; L B Giebel; K M Strunk; R A Spritz
Journal:  Gene Expr       Date:  1991-05

8.  RFLP for MboI in the human tyrosinase (TYR) gene detected by PCR.

Authors:  L B Giebel; R A Spritz
Journal:  Nucleic Acids Res       Date:  1990-05-25       Impact factor: 16.971

9.  The genetics of generalized vitiligo: autoimmune pathways and an inverse relationship with malignant melanoma.

Authors:  Richard A Spritz
Journal:  Genome Med       Date:  2010-10-19       Impact factor: 11.117

10.  The tyrosinase gene codes for an antigen recognized by autologous cytolytic T lymphocytes on HLA-A2 melanomas.

Authors:  V Brichard; A Van Pel; T Wölfel; C Wölfel; E De Plaen; B Lethé; P Coulie; T Boon
Journal:  J Exp Med       Date:  1993-08-01       Impact factor: 14.307
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  24 in total

1.  Autoimmune vitiligo is associated with gain-of-function by a transcriptional regulator that elevates expression of HLA-A*02:01 in vivo.

Authors:  Masahiro Hayashi; Ying Jin; Daniel Yorgov; Stephanie A Santorico; James Hagman; Tracey M Ferrara; Kenneth L Jones; Giulio Cavalli; Charles A Dinarello; Richard A Spritz
Journal:  Proc Natl Acad Sci U S A       Date:  2016-01-19       Impact factor: 11.205

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

Authors:  Ying Jin; Masahiro Hayashi; Pamela R Fain; Tamio Suzuki; Kazuyoshi Fukai; Naoki Oiso; Atsushi Tanemura; Cherie L Holcomb; Melinda Rastrou; Henry A Erlich; Richard A Spritz
Journal:  Pigment Cell Melanoma Res       Date:  2015-02-17       Impact factor: 4.693

Review 3.  Genetics of Vitiligo.

Authors:  Richard A Spritz; Genevieve H L Andersen
Journal:  Dermatol Clin       Date:  2017-04       Impact factor: 3.478

Review 4.  Thyroid diseases and skin autoimmunity.

Authors:  Enke Baldini; Teresa Odorisio; Chiara Tuccilli; Severino Persechino; Salvatore Sorrenti; Antonio Catania; Daniele Pironi; Giovanni Carbotta; Laura Giacomelli; Stefano Arcieri; Massimo Vergine; Massimo Monti; Salvatore Ulisse
Journal:  Rev Endocr Metab Disord       Date:  2018-12       Impact factor: 6.514

Review 5.  Cellular stress and innate inflammation in organ-specific autoimmunity: lessons learned from vitiligo.

Authors:  John E Harris
Journal:  Immunol Rev       Date:  2016-01       Impact factor: 12.988

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

Authors:  Cecilia B Levandowski; Christina M Mailloux; Tracey M Ferrara; Katherine Gowan; Songtao Ben; Ying Jin; Kimberly K McFann; Paulene J Holland; Pamela R Fain; Charles A Dinarello; Richard A Spritz
Journal:  Proc Natl Acad Sci U S A       Date:  2013-02-04       Impact factor: 11.205

7.  Molecular analysis of common polymorphisms within the human Tyrosinase locus and genetic association with pigmentation traits.

Authors:  Kasturee Jagirdar; Darren J Smit; Stephen A Ainger; Katie J Lee; Darren L Brown; Brett Chapman; Zhen Zhen Zhao; Grant W Montgomery; Nicholas G Martin; Jennifer L Stow; David L Duffy; Richard A Sturm
Journal:  Pigment Cell Melanoma Res       Date:  2014-05-12       Impact factor: 4.693

Review 8.  Modern vitiligo genetics sheds new light on an ancient disease.

Authors:  Richard A Spritz
Journal:  J Dermatol       Date:  2013-05       Impact factor: 4.005

9.  Functional cloning of a gp100-reactive T-cell receptor from vitiligo patient skin.

Authors:  Jared Klarquist; Jonathan M Eby; Steven W Henning; Mingli Li; Derek A Wainwright; Wiete Westerhof; Rosalie M Luiten; Michael I Nishimura; I Caroline Le Poole
Journal:  Pigment Cell Melanoma Res       Date:  2016-03-04       Impact factor: 4.693

Review 10.  Human pigmentation genes under environmental selection.

Authors:  Richard A Sturm; David L Duffy
Journal:  Genome Biol       Date:  2012-09-26       Impact factor: 13.583
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