CHARACTERIZATION OF TWO NOVEL DNASE1L3 VARIANTS IN A PATIENT WITH A MONOGENIC FORM OF SYSTEMIC LUPUS ERYTHEMATOSUS

被引：0
|
作者：
Leon, A. [1 ]
Vera, Pimentel L. [1 ]
Bonner, D. [1 ]
Kohler, J. [1 ]
Reuter, C. [1 ]
Zastrow, D. [1 ]
Majcherska, M. [1 ]
Fernandez, L. [1 ]
McCormack, C. [1 ]
Marwaha, S. [1 ]
Fisher, P. [1 ]
Ashley, E. [1 ]
Maller, J. [1 ]
Hsu, J. [1 ]
Balboni, I [1 ]
Bernstein, J. [1 ]
Wheeler, M. [1 ]
Gomez-Ospina, N. [1 ]
机构：
[1] Stanford Univ, Stanford, CA USA
来源：
JOURNAL OF INVESTIGATIVE MEDICINE | 2023年 / 71卷 / 01期
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
309
引用
收藏
页码：NP391 / NP392
页数：2
相关论文
共 50 条
  • [41] L3R-ALPHA AS A NOVEL THERAPEUTIC TARGET IN SYSTEMIC LUPUS ERYTHEMATOSUS
    Oon, S.
    Huynh, H.
    Tai, T. Y.
    Ng, M.
    Monaghan, K.
    Biondo, M.
    Vairo, G.
    Maraskovsky, E.
    Nash, A. D.
    Wilson, N. J.
    Wicks, I. P.
    ANNALS OF THE RHEUMATIC DISEASES, 2016, 75 : 300 - 300
  • [42] A polymorphism in DNASE1L3 is associated with severe asthma exacerbations in two-high risk populations for asthma
    Herrera Luis, Esther
    Perez-Garcia, Javier
    Hernandez-Pacheco, Natalia
    Huntsman, Scott
    Eng, Celeste
    Burchard, Esteban G.
    Lorenzo-Diaz, Fabian
    Pino-Yanes, Maria
    EUROPEAN RESPIRATORY JOURNAL, 2019, 54
  • [43] Reduced digestion of circulating genomic DNA in systemic sclerosis patients with the DNASE1L3 R206C variant
    Skaug, Brian
    Guo, Xinjian
    Li, Yuanteng Jeff
    Charles, Julio
    Pham, Kay T.
    Couturier, Jacob
    Lewis, Dorothy E.
    Bracaglia, Claudia
    Caiello, Ivan
    Mayes, Maureen D.
    Assassi, Shervin
    RHEUMATOLOGY, 2023, 62 (09) : 3197 - 3204
  • [44] How do two distinct but homologous nucleases, DNASE1 and DNASE1L3, differ in their capacity to protect cells against the entry of exogenous DNA.
    Schneider, MC
    Wilber, A
    ARTHRITIS AND RHEUMATISM, 2004, 50 (09): : S605 - S605
  • [45] Apolipoprotein L1 Risk Variants Associate with Systemic Lupus Erythematosus-Associated Collapsing Glomerulopathy
    Larsen, Christopher P.
    Beggs, Marjorie L.
    Saeed, Mohammad
    Walker, Patrick D.
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2013, 24 (05): : 722 - 725
  • [46] FATAL SYSTEMIC LUPUS-ERYTHEMATOSUS IN PATIENT TAKING ORAL IRON CHELATOR-L1
    MEHTA, J
    SINGHAL, S
    REVANKAR, R
    WALVALKAR, A
    CHABLANI, A
    MEHTA, BC
    LANCET, 1991, 337 (8736): : 298 - 298
  • [47] Comment on: Reduced digestion of circulating genomic DNA in systemic sclerosis patients with the DNASE1L3 R206C variant
    Zervou, Maria, I
    Goulielmos, George N.
    RHEUMATOLOGY, 2023, 62 (11) : e325 - e326
  • [48] Novel Mutations in ACP5 and SAMHD1 in a Patient With Pediatric Systemic Lupus Erythematosus
    Hong, Soon-Min
    Chen, Wei
    Feng, Jiaqi
    Dai, Dai
    Shen, Nan
    FRONTIERS IN PEDIATRICS, 2022, 10
  • [49] Two missense variants in UHRF1BP1 are independently associated with systemic lupus erythematosus in Hong Kong Chinese
    Zhang, Y.
    Yang, W.
    Mok, C. C.
    Chan, T. M.
    Wong, R. W. S.
    Mok, M. Y.
    Lee, K. W.
    Wong, S. N.
    Leung, A. M. H.
    Lee, T. L.
    Ho, M. H. K.
    Lee, P. P. W.
    Wong, W. H. S.
    Yang, J.
    Zhang, J.
    Wong, C-M
    Ng, I. O. L.
    Garcia-Barcelo, M-M
    Cherny, S. S.
    Tam, Pk-H
    Sham, P. C.
    Lau, C. S.
    Lau, Y. L.
    GENES AND IMMUNITY, 2011, 12 (03) : 231 - 234
  • [50] Two missense variants in UHRF1BP1 are independently associated with systemic lupus erythematosus in Hong Kong Chinese
    Y Zhang
    W Yang
    C C Mok
    T M Chan
    R W S Wong
    M Y Mok
    K W Lee
    S N Wong
    A M H Leung
    T L Lee
    M H K Ho
    P P W Lee
    W H S Wong
    J Yang
    J Zhang
    C-M Wong
    I O L Ng
    M-M Garcia-Barceló
    S S Cherny
    P K-H Tam
    P C Sham
    C S Lau
    Y L Lau
    Genes & Immunity, 2011, 12 : 231 - 234
12345