(Q35754152)

English

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

scientific article published on March 2012

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scholarly article

1 reference

Europe PubMed Central

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13 February 2020

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

1 reference

Europe PubMed Central

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13 February 2020

1 reference

based on heuristic

inferred from title

CANDLE syndrome

1 reference

based on heuristic

inferred from title

phenotypic heterogeneity

1 reference

based on heuristic

inferred from title

4

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13 February 2020

Chyi-Chia R Lee

9

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13 February 2020

author name string

Yin Liu

1

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13 February 2020

Yuval Ramot

2

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13 February 2020

Antonio Torrelo

3

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13 February 2020

Nuo Si

5

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13 February 2020

Sofia Babay

6

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13 February 2020

Peter W Kim

7

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13 February 2020

Afzal Sheikh

8

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13 February 2020

Yongqing Chen

10

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13 February 2020

Angel Vera

11

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13 February 2020

Xue Zhang

12

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13 February 2020

Raphaela Goldbach-Mansky

13

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13 February 2020

Abraham Zlotogorski

14

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13 February 2020

publication date

1 March 2012

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13 February 2020

Arthritis and Rheumatism

1 reference

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13 February 2020

64

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13 February 2020

3

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13 February 2020

895-907

1 reference

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13 February 2020

PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278554

2 October 2017

Immunoproteasomes preserve protein homeostasis upon interferon-induced oxidative stress

1 reference

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2 October 2017

Monogenic autoinflammatory diseases: new insights into clinical aspects and pathogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278554

2 October 2017

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a case report

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278554

2 October 2017

An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278554

2 October 2017

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278554

2 October 2017

Blocking interleukin-1 in rheumatic diseases

1 reference

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2 October 2017

The proteasomal system.

1 reference

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2 October 2017

Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*)

1 reference

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2 October 2017

Interferon-gamma coordinates CCL3-mediated neutrophil recruitment in vivo

1 reference

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2 October 2017

CXCL10 and autoimmune diseases

1 reference

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2 October 2017

Heat shock and oxygen radicals stimulate ubiquitin-dependent degradation mainly of newly synthesized proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278554

2 October 2017

Regulation of translation is required for dendritic cell function and survival during activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278554

2 October 2017

A proposed classification of the immunological diseases

1 reference

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2 October 2017

Radiation modulates the peptide repertoire, enhances MHC class I expression, and induces successful antitumor immunotherapy

1 reference

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2 October 2017

The seven dirty little secrets of major histocompatibility complex class I antigen processing

1 reference

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2 October 2017

Proteasome function in antigen presentation: immunoproteasome complexes, Peptide production, and interactions with viral proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278554

2 October 2017

An unknown autoinflammatory syndrome associated with short stature and dysmorphic features in a young boy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278554

2 October 2017

The structure of the mammalian 20S proteasome at 2.75 A resolution

1 reference

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2 October 2017

Hereditary lipo-muscular atrophy with joint contracture, skin eruptions and hyper-gamma-globulinemia: a new syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278554

2 October 2017

A syndrome with nodular erythema, elongated and thickened fingers, and emaciation

1 reference

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2 October 2017

Viricidal effect of stimulated human mononuclear phagocytes on human immunodeficiency virus type 1

1 reference

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2 October 2017

Immunoproteasomes are essential for survival and expansion of T cells in virus-infected mice

1 reference

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27 July 2018

HomozygosityMapper--an interactive approach to homozygosity mapping

1 reference

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27 July 2018

Generation of in silico predicted coxsackievirus B3-derived MHC class I epitopes by proteasomes.

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25 September 2018

Antitopes define preferential proteasomal cleavage site usage.

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25 September 2018

An autopsy case of a syndrome with muscular atrophy, decreased subcutaneous fat, skin eruption and hyper gamma-globulinemia: peculiar vascular changes and muscle fiber degeneration.

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25 September 2018

Identifiers

10.1002/ART.33368

1 reference

Europe PubMed Central

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13 February 2020

1 reference

Europe PubMed Central

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13 February 2020

1 reference

Europe PubMed Central

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13 February 2020

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