(Q27026228)

English

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a report of a novel mutation and review of the literature

scientific article

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scholarly article

1 reference

9 references

24 March 2019

20 June 2019

17 June 2019

30 June 2019

14 September 2019

28 September 2019

16 November 2019

6 November 2020

19 July 2021

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a report of a novel mutation and review of the literature (English)

0 references

8 references

24 March 2019

20 June 2019

17 June 2019

30 June 2019

14 September 2019

28 September 2019

16 November 2019

6 November 2020

genetic variation

1 reference

14 September 2019

1 reference

28 September 2019

macromolecular substance

1 reference

16 November 2019

1 reference

6 November 2020

proteasome endopeptidase complex

1 reference

19 July 2021

1 reference

based on heuristic

inferred from title

CANDLE syndrome

1 reference

based on heuristic

inferred from title

Helen J Lachmann

8

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001180%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

author name string

J Kluk

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001180%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

M Rustin

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001180%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

P A Brogan

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001180%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

E Omoyinmi

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001180%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

D M Rowczenio

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001180%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

L C Willcocks

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001180%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

L Melly

7

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001180%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

language of work or name

1 reference

publication date

January 2014

1 reference

1 January 2014

9 references

24 March 2019

20 June 2019

17 June 2019

30 June 2019

14 September 2019

28 September 2019

16 November 2019

6 November 2020

19 July 2021

British Journal of Dermatology

11 references

24 March 2019

20 June 2019

17 June 2019

30 June 2019

14 September 2019

28 September 2019

16 November 2019

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001180%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

6 November 2020

19 July 2021

170

2 references

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001180%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

1

2 references

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001180%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

215-217

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001180%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

copyright license

Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported

9 references

Europe PubMed Central

24 March 2019

Europe PubMed Central

20 June 2019

Europe PubMed Central

17 June 2019

Europe PubMed Central

30 June 2019

Europe PubMed Central

14 September 2019

Europe PubMed Central

28 September 2019

Europe PubMed Central

16 November 2019

Europe PubMed Central

6 November 2020

Europe PubMed Central

19 July 2021

on focus list of Wikimedia project

0 references

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232891

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4232891

28 September 2017

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=4232891

28 September 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=4232891

28 September 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=4232891

28 September 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=4232891

28 September 2017

Identifiers

10.1111/BJD.12600

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001180%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

PMC publication ID

2 references

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001180%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

PubMed publication ID

2 references

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001180%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

ResearchGate publication ID

0 references

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