(Q36949321)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23768303%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

title

A case of proteasome-associated auto-inflammatory syndrome with compound heterozygous mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23768303%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23768303%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Kim M Hiatt

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23768303%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

author name string

Amelia McDermott

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23768303%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Adriana Almeida Jesus

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23768303%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Yin Liu

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23768303%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Peter Kim

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23768303%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Jennifer Jacks

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23768303%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Gina A Montealegre Sanchez

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23768303%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Yongqing Chen

7

1 reference

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3 March 2020

Aarthi Kannan

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23768303%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Alicia Schnebelen

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23768303%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Sara Shalin

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23768303%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Raphaela Goldbach-Mansky

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23768303%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Ling Gao

14

1 reference

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3 March 2020

language of work or name

English

0 references

publication date

1 July 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23768303%20AND%20SRC:MED&resulttype=core&format=json

Journal of the American Academy of Dermatology

3 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23768303%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

volume

69

1 reference

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3 March 2020

issue

1

1 reference

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3 March 2020

page(s)

e29-32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23768303%20AND%20SRC:MED&resulttype=core&format=json

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

3 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690515

A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690515

Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690515

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690515

Immunoproteasomes preserve protein homeostasis upon interferon-induced oxidative stress

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690515

10.1016/J.JAAD.2013.01.015

29 September 2017

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23768303%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23768303%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

PubMed publication ID

23768303

1 reference