(Q24296788)

GOA release 2020-03-11

protein targeting

1 reference

GOA release 2020-03-11

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24791904%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Hervé Bachelez

8

1 reference

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2 June 2020

Siew Eng Choon

10

1 reference

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2 June 2020

Christopher Griffiths

11

1 reference

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2 June 2020

Antonios Kolios

13

1 reference

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2 June 2020

Asma Smahi

16

1 reference

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2 June 2020

Richard C Trembath

17

1 reference

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2 June 2020

Franca Fraternali

18

1 reference

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2 June 2020

Catherine H Smith

19

1 reference

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2 June 2020

Jonathan N. Barker

20

1 reference

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2 June 2020

Francesca Capon

21

1 reference

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2 June 2020

3

Alexander A Navarini

1 reference

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2 June 2020

1

Niovi Setta-Kaffetzi

1 reference

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2 June 2020

4

Varsha M Patel

1 reference

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2 June 2020

9

A David Burden

1 reference

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2 June 2020

14

Marieke M B Seyger

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24791904%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

15

Christa Prins

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24791904%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

author name string

Hui-Chun Lu

5

1 reference

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2 June 2020

Michael H Allen

6

1 reference

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2 June 2020

Michael Duckworth

7

1 reference

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2 June 2020

Brian Kirby

12

1 reference

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American Journal of Human Genetics

2 June 2020

language of work or name

English

0 references

publication date

1 May 2014

0 references

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24791904%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

volume

94

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24791904%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24791904%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

page(s)

790-797

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24791904%20AND%20SRC:MED&resulttype=core&format=json

The autoimmunity-associated gene PTPN22 potentiates toll-like receptor-driven, type 1 interferon-dependent immunity

2 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067562

Structural basis for recruitment and activation of the AP-1 clathrin adaptor complex by Arf1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067562

The fifth adaptor protein complex

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067562

Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067562

Immunomodulatory functions of type I interferons

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067562

NIH Image to ImageJ: 25 years of image analysis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067562

The Sequence Alignment/Map format and SAMtools

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067562

T-Coffee: A novel method for fast and accurate multiple sequence alignment

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067562

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067562

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067562

Protein structure modeling with MODELLER

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067562

Adaptable adaptors for coated vesicles

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067562

First clinical description of an infant with interleukin-36-receptor antagonist deficiency successfully treated with anakinra

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067562

UNC93B1 mediates differential trafficking of endosomal TLRs

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067562

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067562

Distinct and overlapping roles for AP-1 and GGAs revealed by the "knocksideways" system

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067562

Exome sequencing and the genetic basis of complex traits

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067562

Cleavage of Toll-like receptor 3 by cathepsins B and H is essential for signaling

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067562

PSORS2 is due to mutations in CARD14.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067562

Spliceman--a computational web server that predicts sequence variations in pre-mRNA splicing

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067562

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067562

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067562

Genetics of monogenic autoinflammatory diseases: past successes, future challenges

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067562

Crystal structure of the clathrin adaptor protein 1 core

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067562

Predicting functional effect of human missense mutations using PolyPhen-2.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067562

IL36RN mutations in generalized pustular psoriasis: just the tip of the iceberg?

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067562

Successful therapy with anakinra in a patient with generalized pustular psoriasis carrying IL36RN mutations.

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067562

Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067562

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067562

10.1016/J.AJHG.2014.04.005

29 November 2018

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24791904%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24791904%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24791904%20AND%20SRC:MED&resulttype=core&format=json