Two functional lupus-associated BLK promoter variants control cell-type- and developmental-stage-specific transcription.
第一作者:
Joel M,Guthridge
第一单位:
Arthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA. Electronic address: guthridgej@omrf.org.
作者:
Joel M,Guthridge [1]
;
Rufei,Lu [2]
;
Harry,Sun [3]
;
Celi,Sun [4]
;
Graham B,Wiley [4]
;
Nicolas,Dominguez [4]
;
Susan R,Macwana [4]
;
Christopher J,Lessard [4]
;
Xana,Kim-Howard [4]
;
Beth L,Cobb [5]
;
Kenneth M,Kaufman [6]
;
Jennifer A,Kelly [4]
;
Carl D,Langefeld [7]
;
Adam J,Adler [4]
;
Isaac T W,Harley [8]
;
Joan T,Merrill [9]
;
Gary S,Gilkeson [10]
;
Diane L,Kamen [10]
;
Timothy B,Niewold [11]
;
Elizabeth E,Brown [12]
;
Jeffery C,Edberg [13]
;
Michelle A,Petri [14]
;
Rosalind,Ramsey-Goldman [15]
;
John D,Reveille [16]
;
Luis M,Vilá [17]
;
Robert P,Kimberly [13]
;
Barry I,Freedman [18]
;
Anne M,Stevens [19]
;
Susan A,Boackle [20]
;
Lindsey A,Criswell [21]
;
Tim J,Vyse [22]
;
Timothy W,Behrens [3]
;
Chaim O,Jacob [23]
;
Marta E,Alarcón-Riquelme [24]
;
Kathy L,Sivils [4]
;
Jiyoung,Choi [25]
;
Young Bin,Joo [25]
;
So-Young,Bang [25]
;
Hye-Soon,Lee [25]
;
Sang-Cheol,Bae [25]
;
Nan,Shen [26]
;
Xiaoxia,Qian [26]
;
Betty P,Tsao [27]
;
R Hal,Scofield [28]
;
John B,Harley [6]
;
Carol F,Webb [29]
;
Edward K,Wakeland [30]
;
Judith A,James [31]
;
Swapan K,Nath [4]
;
Robert R,Graham [3]
;
Patrick M,Gaffney [4]
作者单位:
Arthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA. Electronic address: guthridgej@omrf.org.
[1]
Arthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA; Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.
[2]
Immune and Tissue Growth and Repair and Human Genetics Department, Genentech, South San Francisco, CA 94080, USA.
[3]
Arthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
[4]
Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
[5]
Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Cincinnati Veterans Affairs Medical Center, Cincinnati, OH 45220, USA.
[6]
Department of Biostatistical Sciences, Wake Forest University, Winston-Salem, NC 27106, USA.
[7]
Division of Molecular Immunology and Graduate Program in Immunobiology, Cincinnati Children's Hospital Research Foundation, Cincinnati, OH 45229, USA.
[8]
Department of Clinical Pharmacology, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
[9]
Department of Medicine, Division of Rheumatology, Medical University of South Carolina, Charleston, SC 29425, USA.
[10]
Division of Rheumatology and Department of Immunology, Mayo Clinic, Rochester, MN 55902, USA.
[11]
Department of Epidemiology, University of Alabama-Birmingham, Birmingham, AL 35294, USA; Department of Medicine, University of Alabama-Birmingham, Birmingham, AL 35294, USA.
[12]
Division of Clinical Immunology and Rheumatology, University of Alabama-Birmingham School of Medicine, Birmingham, AL 35294, USA.
[13]
Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
[14]
Division of Rheumatology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
[15]
Rheumatology and Clinical Immunogenetics, University of Texas Health Science Center at Houston, Houston, TX.77030, USA.
[16]
Department of Medicine, Division of Rheumatology, University of Puerto Rico Medical Sciences Campus, San Juan 00921, Puerto Rico.
[17]
Department of Internal Medicine, Wake Forest School of Medicine, Winston-Salem, NC 27106, USA.
[18]
Division of Rheumatology, Department of Pediatrics, University of Washington Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, WA 98101, USA.
[19]
Division of Rheumatology, University of Colorado Denver, Aurora, CO 80045, USA.
[20]
Rosalind Russell Medical Research Center for Arthritis, University of California San Francisco, San Francisco, CA 94143, USA.
[21]
Division of Medicine, Imperial College of London, London SW7 2AZ, UK.
[22]
Department of Medicine, University of Southern California, Los Angeles, CA 90089, USA.
[23]
Arthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA; Centro de Genómica e Investigaciones Oncológicas (GENYO). Pfizer-Universidad de Granada-Junta de Andalucía, Granada 18016, Spain.
[24]
Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul 133-791, Korea.
[25]
Molecular Rheumatology Laboratory, Institute of Health Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences and Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
[26]
Department of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA.
[27]
Arthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA; Department of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73105, USA; United States Department of Veterans Affairs Medical Center, Oklahoma City, OK 73105, USA.
[28]
Immunobiology and Cancer Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA; Department of Cell Biology and Department of Microbiology and Immunology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.
[29]
Department of Immunology, University of Texas Southwestern Medical Center, Dallas, TX 75235, USA.
[30]
Arthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA; Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA; Department of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73105, USA.
[31]
主题词
等位基因(Alleles);染色体, 人, 8对(Chromosomes, Human, Pair 8);电泳迁移位移试验(Electrophoretic Mobility Shift Assay);女(雌)性(Female);疾病遗传易感性(Genetic Predisposition to Disease);单倍型(Haplotypes);人类(Humans);红斑狼疮, 系统性(Lupus Erythematosus, Systemic);男(雄)性(Male);多态性, 单核苷酸(Polymorphism, Single Nucleotide);启动区, 遗传(Promoter Regions, Genetic);转录, 遗传(Transcription, Genetic);src族激酶类(src-Family Kinases)
DOI
10.1016/j.ajhg.2014.03.008
PMID
24702955
发布时间
2021-10-21
- 浏览12

American journal of human genetics
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