Publications:

Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency.

Nature Communications

Kanazawa, Nobuo N; Hemmi, Hiroaki H; Kinjo, Noriko N; Ohnishi, Hidenori H; Hamazaki, Jun J; Mishima, Hiroyuki H; Kinoshita, Akira A; Mizushima, Tsunehiro T; Hamada, Satoru S; Hamada, Kazuya K; Kawamoto, Norio N; Kadowaki, Saori S; Honda, Yoshitaka Y; Izawa, Kazushi K; Nishikomori, Ryuta R; Tsumura, Miyuki M; Yamashita, Yusuke Y; Tamura, Shinobu S; Orimo, Takashi T; Ozasa, Toshiya T; Kato, Takashi T; Sasaki, Izumi I; Fukuda-Ohta, Yuri Y; Wakaki-Nishiyama, Naoko N; Inaba, Yutaka Y; Kunimoto, Kayo K; Okada, Satoshi S; Taketani, Takeshi T; Nakanishi, Koichi K; Murata, Shigeo S; Yoshiura, Koh-Ichiro KI; Kaisho, Tsuneyasu T

Publication Date: 2021-11-24

Variant appearance in text: CD4: A17A

PubMed Link: 34819510

Variant Present in the following documents:

• Main text

View BVdb publication page

Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency.

Nature Communications

Kanazawa, Nobuo N; Hemmi, Hiroaki H; Kinjo, Noriko N; Ohnishi, Hidenori H; Hamazaki, Jun J; Mishima, Hiroyuki H; Kinoshita, Akira A; Mizushima, Tsunehiro T; Hamada, Satoru S; Hamada, Kazuya K; Kawamoto, Norio N; Kadowaki, Saori S; Honda, Yoshitaka Y; Izawa, Kazushi K; Nishikomori, Ryuta R; Tsumura, Miyuki M; Yamashita, Yusuke Y; Tamura, Shinobu S; Orimo, Takashi T; Ozasa, Toshiya T; Kato, Takashi T; Sasaki, Izumi I; Fukuda-Ohta, Yuri Y; Wakaki-Nishiyama, Naoko N; Inaba, Yutaka Y; Kunimoto, Kayo K; Okada, Satoshi S; Taketani, Takeshi T; Nakanishi, Koichi K; Murata, Shigeo S; Yoshiura, Koh-Ichiro KI; Kaisho, Tsuneyasu T

Publication Date: 2021-11-24

Variant appearance in text: CD4: A17A

PubMed Link: 34819510

Variant Present in the following documents:

• Main text

View BVdb publication page

Chromatin remodeler ARID1A binds IRF3 to selectively induce antiviral interferon production in macrophages.

Cell Death & Disease

Hu, Ye Y; Wang, Xin X; Song, Jiaying J; Wu, Jiacheng J; Xu, Jia J; Chai, Yangyang Y; Ding, Yuanyuan Y; Wang, Bingjing B; Wang, Chunmei C; Zhao, Yong Y; Shen, Zhongyang Z; Xu, Xiaoqing X; Cao, Xuetao X

Publication Date: 2021-07-27

Variant appearance in text: CD4: A17A

PubMed Link: 34315861

Variant Present in the following documents:

• Main text

View BVdb publication page

Screening and Identification of Prognostic Tumor-Infiltrating Immune Cells and Genes of Endometrioid Endometrial Adenocarcinoma: Based on The Cancer Genome Atlas Database and Bioinformatics.

Frontiers In Oncology

Chen, Bingnan B; Wang, Di D; Li, Jiapo J; Hou, Yue Y; Qiao, Chong C

Publication Date: 2020

Variant appearance in text: CD4: A17A

PubMed Link: 33335850

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: CD4: A17A

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1

View BVdb publication page