(Q30469652)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21839423%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

title

Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21839423%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

0 references

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21839423%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21839423%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21839423%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21839423%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21839423%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21839423%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21839423%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21839423%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Catherine H Smith

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21839423%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

A David Burden

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21839423%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Venu Pullabhatla

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21839423%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Alexandros Onoufriadis

series ordinal

object named as

Alexandros Onoufriadis

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21839423%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Frank O Nestle

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21839423%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

language of work or name

English

0 references

publication date

11 August 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21839423%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

10 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21839423%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21839423%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21839423%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

page(s)

432-437

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21839423%20AND%20SRC:MED&resulttype=core&format=json

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

10 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169817

IL-1F5, -F6, -F8, and -F9: a novel IL-1 family signaling system that is active in psoriasis and promotes keratinocyte antimicrobial peptide expression

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169817

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169817

Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169817

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169817

The IL-1 family: regulators of immunity

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169817

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169817

The Sequence Alignment/Map format and SAMtools

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169817

An autoinflammatory disease due to homozygous deletion of the IL1RN locus

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169817

An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169817

Opposing activities of two novel members of the IL-1 ligand family regulate skin inflammation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169817

Interleukin (IL)-1F6, IL-1F8, and IL-1F9 signal through IL-1Rrp2 and IL-1RAcP to activate the pathway leading to NF-kappaB and MAPKs

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169817

High-resolution structure of murine interleukin 1 homologue IL-1F5 reveals unique loop conformations for receptor binding specificity

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169817

Association between the interleukin-1 family gene cluster and psoriatic arthritis

20 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21839423

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Successful Treatment of Generalized Pustular Psoriasis With the Interleukin-1-Receptor Antagonist Anakinra: Lack of Correlation With IL1RN Mutations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21839423

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2011.07.022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21839423%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21839423%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

PubMed publication ID

21839423

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21839423%20AND%20SRC:MED&resulttype=core&format=json