Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammat...
Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency
About this item
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Author / Creator
Kanazawa, Nobuo , Hemmi, Hiroaki , Kinjo, Noriko , Ohnishi, Hidenori , Hamazaki, Jun , Mishima, Hiroyuki , Kinoshita, Akira , Mizushima, Tsunehiro , Hamada, Satoru , Hamada, Kazuya , Kawamoto, Norio , Kadowaki, Saori , Honda, Yoshitaka , Izawa, Kazushi , Nishikomori, Ryuta , Tsumura, Miyuki , Yamashita, Yusuke , Tamura, Shinobu , Orimo, Takashi , Ozasa, Toshiya , Kato, Takashi , Sasaki, Izumi , Fukuda-Ohta, Yuri , Wakaki-Nishiyama, Naoko , Inaba, Yutaka , Kunimoto, Kayo , Okada, Satoshi , Taketani, Takeshi , Nakanishi, Koichi , Murata, Shigeo , Yoshiura, Koh-ichiro and Kaisho, Tsuneyasu
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Impaired proteasome activity due to genetic variants of certain subunits might lead to proteasome-associated autoinflammatory syndromes (PRAAS). Here we report a de novo heterozygous missense variant of the PSMB9 proteasome subunit gene in two unrelated Japanese infants resulting in amino acid substitution of the glycine (G) by aspartic acid (D) at...
Alternative Titles
Full title
Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency
Authors, Artists and Contributors
Author / Creator
Hemmi, Hiroaki
Kinjo, Noriko
Ohnishi, Hidenori
Hamazaki, Jun
Mishima, Hiroyuki
Kinoshita, Akira
Mizushima, Tsunehiro
Hamada, Satoru
Hamada, Kazuya
Kawamoto, Norio
Kadowaki, Saori
Honda, Yoshitaka
Izawa, Kazushi
Nishikomori, Ryuta
Tsumura, Miyuki
Yamashita, Yusuke
Tamura, Shinobu
Orimo, Takashi
Ozasa, Toshiya
Kato, Takashi
Sasaki, Izumi
Fukuda-Ohta, Yuri
Wakaki-Nishiyama, Naoko
Inaba, Yutaka
Kunimoto, Kayo
Okada, Satoshi
Taketani, Takeshi
Nakanishi, Koichi
Murata, Shigeo
Yoshiura, Koh-ichiro
Kaisho, Tsuneyasu
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_bc153bd94dab48289d8e89f5cfa52002
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_bc153bd94dab48289d8e89f5cfa52002
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-021-27085-y
