Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: PSMB8: 405C>A; Cys135Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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The Molecular Mechanisms Governing the Assembly of the Immuno- and Thymoproteasomes in the Presence of Constitutive Proteasomes.

Cells

Watanabe, Ayaka A; Yashiroda, Hideki H; Ishihara, Satoshi S; Lo, Megan M; Murata, Shigeo S

Publication Date: 2022-05-07

Variant appearance in text: PSMB8: C135X

PubMed Link: 35563886

Variant Present in the following documents:

• Main text
• cells-11-01580.pdf

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Nakajo-Nishimura syndrome and related proteasome-associated autoinflammatory syndromes.

Journal Of Inflammation Research

Ohmura, Koichiro K

Publication Date: 2019

Variant appearance in text: PSMB8: C135X

PubMed Link: 31576159

Variant Present in the following documents:

• Main text
• jir-12-259.pdf

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs146254972

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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CANDLE Syndrome As a Paradigm of Proteasome-Related Autoinflammation.

Frontiers In Immunology

Torrelo, Antonio A

Publication Date: 2017

Variant appearance in text: PSMB8: C135X

PubMed Link: 28848544

Variant Present in the following documents:

• Main text
• fimmu-08-00927.pdf

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Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Frontiers In Immunology

Martorana, Davide D; Bonatti, Francesco F; Mozzoni, Paola P; Vaglio, Augusto A; Percesepe, Antonio A

Publication Date: 2017

Variant appearance in text: PSMB8: C135X

PubMed Link: 28421071

Variant Present in the following documents:

• Main text
• fimmu-08-00344.pdf

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Type I interferonopathies in pediatric rheumatology.

Pediatric Rheumatology Online Journal

Volpi, Stefano S; Picco, Paolo P; Caorsi, Roberta R; Candotti, Fabio F; Gattorno, Marco M

Publication Date: 2016-06-04

Variant appearance in text: PSMB8: C135X

PubMed Link: 27260006

Variant Present in the following documents:

• Main text
• 12969_2016_Article_94.pdf

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Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

The Journal Of Clinical Investigation

Brehm, Anja A; Liu, Yin Y; Sheikh, Afzal A; Marrero, Bernadette B; Omoyinmi, Ebun E; Zhou, Qing Q; Montealegre, Gina G; Biancotto, Angelique A; Reinhardt, Adam A; Almeida de Jesus, Adriana A; Pelletier, Martin M; Tsai, Wanxia L WL; Remmers, Elaine F EF; Kardava, Lela L; Hill, Suvimol S; Kim, Hanna H; Lachmann, Helen J HJ; Megarbane, Andre A; Chae, Jae Jin JJ; Brady, Jilian J; Castillo, Rhina D RD; Brown, Diane D; Casano, Angel Vera AV; Gao, Ling L; Chapelle, Dawn D; Huang, Yan Y; Stone, Deborah D; Chen, Yongqing Y; Sotzny, Franziska F; Lee, Chyi-Chia Richard CC; Kastner, Daniel L DL; Torrelo, Antonio A; Zlotogorski, Abraham A; Moir, Susan S; Gadina, Massimo M; McCoy, Phil P; Wesley, Robert R; Rother, Kristina I KI; Rother, Kristina K; Hildebrand, Peter W PW; Brogan, Paul P; Krüger, Elke E; Aksentijevich, Ivona I; Goldbach-Mansky, Raphaela R

Publication Date: 2015-11-02

Variant appearance in text: PSMB8: C135X

PubMed Link: 26524591

Variant Present in the following documents:

• Main text

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Upregulation of immunoproteasome subunits in myositis indicates active inflammation with involvement of antigen presenting cells, CD8 T-cells and IFNΓ.

Plos One

Ghannam, Khetam K; Martinez-Gamboa, Lorena L; Spengler, Lydia L; Krause, Sabine S; Smiljanovic, Biljana B; Bonin, Marc M; Bhattarai, Salyan S; Grützkau, Andreas A; Burmester, Gerd-R GR; Häupl, Thomas T; Feist, Eugen E

Publication Date: 2014

Variant appearance in text: PSMB8: 405C>A

PubMed Link: 25098831

Variant Present in the following documents:

• Main text

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Genetics of proteasome diseases.

Scientifica

Gomes, Aldrin V AV

Publication Date: 2013

Variant appearance in text: PSMB8: 405C>A

PubMed Link: 24490108

Variant Present in the following documents:

• Main text
• SCIENTIFICA2013-637629.pdf

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Monogenic autoinflammatory diseases: disorders of amplified danger sensing and cytokine dysregulation.

Rheumatic Diseases Clinics Of North America

Sanchez, Gina A Montealegre GA; de Jesus, Adriana Almeida AA; Goldbach-Mansky, Raphaela R

Publication Date: 2013-11

Variant appearance in text: PSMB8: C135X

PubMed Link: 24182851

Variant Present in the following documents:

• Main text

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The expanding spectrum of rare monogenic autoinflammatory diseases.

Orphanet Journal Of Rare Diseases

Touitou, Isabelle I; Galeotti, Caroline C; Rossi-Semerano, Linda L; Hentgen, Véronique V; Piram, Maryam M; Koné-Paut, Isabelle I; ,

Publication Date: 2013-10-16

Variant appearance in text: PSMB8: 405C>A; Cys135*

PubMed Link: 24131530

Variant Present in the following documents:

• Main text
• 1750-1172-8-162.pdf

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Monogenic autoinflammatory diseases: concept and clinical manifestations.

Clinical Immunology (Orlando, Fla.)

Almeida de Jesus, Adriana A; Goldbach-Mansky, Raphaela R

Publication Date: 2013-06

Variant appearance in text: PSMB8: C135X

PubMed Link: 23711932

Variant Present in the following documents:

• Main text

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Immunoproteasomes: structure, function, and antigen presentation.

Progress In Molecular Biology And Translational Science

Ferrington, Deborah A DA; Gregerson, Dale S DS

Publication Date: 2012

Variant appearance in text: LMP7: 405C>A

PubMed Link: 22727420

Variant Present in the following documents:

• Main text

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Immunology in clinic review series; focus on autoinflammatory diseases: update on monogenic autoinflammatory diseases: the role of interleukin (IL)-1 and an emerging role for cytokines beyond IL-1.

Clinical And Experimental Immunology

Goldbach-Mansky, R R

Publication Date: 2012-03

Variant appearance in text: PSMB8: C135X

PubMed Link: 22288582

Variant Present in the following documents:

• Main text

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Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity.

Arthritis And Rheumatism

Liu, Yin Y; Ramot, Yuval Y; Torrelo, Antonio A; Paller, Amy S AS; Si, Nuo N; Babay, Sofia S; Kim, Peter W PW; Sheikh, Afzal A; Lee, Chyi-Chia Richard CC; Chen, Yongqing Y; Vera, Angel A; Zhang, Xue X; Goldbach-Mansky, Raphaela R; Zlotogorski, Abraham A

Publication Date: 2012-03

Variant appearance in text: PSMB8: 405C>A; C135X

PubMed Link: 21953331

Variant Present in the following documents:

• Main text

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