Evidence map›Paper›PMID 42209561›Full record

ArticleScientific reports2026

The homozygous founder Psmb8 variant of Nakajo-Nishimura syndrome/proteasome-associated autoinflammatory syndrome causes panniculitis-associated lipoatrophy and a shortened lifespan in mice.

Tomoyuki Hara, Akira Kinoshita, Jun Hamazaki, Hiroaki Hemmi, Takashi Kato, Izumi Sasaki, Yutaka Inaba, Yusuke Yamashita, Daisuke Okuzaki, Koh-Ichiro Yoshiura and 4 more

Abstract read
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In one paragraph

Article in Scientific reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

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5 · Who and what money

Authors and funding

14 authors.

Tomoyuki HaraDepartment of Dermatology, Wakayama Medical University, Wakayama, Japan.
Akira KinoshitaDepartment of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki, Japan.
Jun HamazakiLaboratory of Protein Metabolism, Graduate School of Pharmaceutical Sciences, the University of Tokyo, Tokyo, Japan.
Hiroaki HemmiLaboratory of Immunology, Faculty of Veterinary Medicine, Okayama University of Science, Imabari, Japan.
Takashi KatoDepartment of Immunology, Institute of Advanced Medicine, Wakayama Medical University, Wakayama, Japan.
Izumi SasakiDepartment of Immunology, Institute of Advanced Medicine, Wakayama Medical University, Wakayama, Japan.
Yutaka InabaDepartment of Dermatology, Wakayama Medical University, Wakayama, Japan.
Yusuke YamashitaDepartment of Hematology/Oncology, Wakayama Medical University, Wakayama, Japan.
Daisuke OkuzakiGenome Information Research Center, Research Institute for Microbial Diseases, Osaka University, Suita, Japan.
Koh-Ichiro YoshiuraDepartment of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki, Japan.
Shigeo MurataLaboratory of Protein Metabolism, Graduate School of Pharmaceutical Sciences, the University of Tokyo, Tokyo, Japan.
Masatoshi JinninDepartment of Dermatology, Wakayama Medical University, Wakayama, Japan.
Tsuneyasu KaishoDepartment of Immunology, Institute of Advanced Medicine, Wakayama Medical University, Wakayama, Japan.
Nobuo KanazawaDepartment of Dermatology, Wakayama Medical University, Wakayama, Japan. nkanazaw@hyo-med.ac.jp.

Funding

Japan Agency for Medical Research and Development JP23gm6410008h0004Japan Society for the Promotion of Science JP19K08780Japan Society for the Promotion of Science JP22H05187Japan Society for the Promotion of Science JP22K08443Japan Society for the Promotion of Science JP24590403Japan Society for the Promotion of Science JP24K10165
6 · The paper itself

Abstract

Nakajo-Nishimura syndrome/proteasome-associated autoinflammatory syndrome (NNS/PRAAS) is a hereditary autoinflammatory disease. Clinically, NNS/PRAAS is characterized by periodic fever, skin rash, partial lipo-muscular atrophy, and joint contractures. Among PRAAS, NNS, is genetically characterized by a homozygous founder variant in the proteasome subunit beta type 8 (PSMB8) gene encoding an inducible proteasome component β5i. To establish an in vivo animal model recapitulating NNS/PRAAS, we generated mice harboring this founder variant. In Psmb8

Indexed as

Cysteine EndopeptidasesFeverLipodystrophyPanniculitisProteasome Endopeptidase ComplexAnimalsDisease Models, AnimalErythema NodosumFemaleFingersHomozygoteLongevityMiceMutationSpleenCysteine EndopeptidasesLMP7 proteinProteasome Endopeptidase ComplexNakajo-Nishimura syndrome (NNS)Panniculitis-associated lipoatrophyProteasome-associated autoinflammatory syndrome (PRAAS)Psmb8 G201V/G201V miceShortened lifespan

Identifiers

PMID42209561
PMCPMC13219427

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.