Mutation of DNASE1 in people with systemic lupus erythematosus

Koji Yasutomo, Takahiko Horiuchi, Shoji Kagami, Hiroshi Tsukamoto, Chinami Hashimura, Maki Urushihara, Yasuhiro Kuroda

研究成果: ジャーナルへの寄稿記事

402 引用 (Scopus)

抄録

Systemic lupus erythematosus (SLE) is a highly prevalent human autoimmune diseases that causes progressive glomerulonephritis, arthritis and an erythematoid rash. Mice deficient in deoxyribonuclease I (Dnase1) develop an SLE-like syndrome. Here we describe two patients with a heterozygous nonsense mutation in exon 2 of DNASE1, decreased DNASE1 activity and an extremely high immunoglobulin G titer against nucleosomal antigens. These data are consistent with the hypothesis that a direct connection exists between low activity of DNASE1 and progression of human SLE.

元の言語英語
ページ(範囲)313-314
ページ数2
ジャーナルNature genetics
28
発行部数4
DOI
出版物ステータス出版済み - 8 14 2001

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Systemic Lupus Erythematosus
Mutation
Nonsense Codon
Deoxyribonuclease I
Glomerulonephritis
Exanthema
Autoimmune Diseases
Arthritis
Exons
Immunoglobulin G
Antigens

All Science Journal Classification (ASJC) codes

  • Genetics

これを引用

Yasutomo, K., Horiuchi, T., Kagami, S., Tsukamoto, H., Hashimura, C., Urushihara, M., & Kuroda, Y. (2001). Mutation of DNASE1 in people with systemic lupus erythematosus. Nature genetics, 28(4), 313-314. https://doi.org/10.1038/91070

Mutation of DNASE1 in people with systemic lupus erythematosus. / Yasutomo, Koji; Horiuchi, Takahiko; Kagami, Shoji; Tsukamoto, Hiroshi; Hashimura, Chinami; Urushihara, Maki; Kuroda, Yasuhiro.

:: Nature genetics, 巻 28, 番号 4, 14.08.2001, p. 313-314.

研究成果: ジャーナルへの寄稿記事

Yasutomo, K, Horiuchi, T, Kagami, S, Tsukamoto, H, Hashimura, C, Urushihara, M & Kuroda, Y 2001, 'Mutation of DNASE1 in people with systemic lupus erythematosus', Nature genetics, 巻. 28, 番号 4, pp. 313-314. https://doi.org/10.1038/91070
Yasutomo K, Horiuchi T, Kagami S, Tsukamoto H, Hashimura C, Urushihara M その他. Mutation of DNASE1 in people with systemic lupus erythematosus. Nature genetics. 2001 8 14;28(4):313-314. https://doi.org/10.1038/91070
Yasutomo, Koji ; Horiuchi, Takahiko ; Kagami, Shoji ; Tsukamoto, Hiroshi ; Hashimura, Chinami ; Urushihara, Maki ; Kuroda, Yasuhiro. / Mutation of DNASE1 in people with systemic lupus erythematosus. :: Nature genetics. 2001 ; 巻 28, 番号 4. pp. 313-314.
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