(Q28119069)

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27476651%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

title

Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions (English)

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27476651%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

main subject

Serpin family B member 8

1 reference

epithelial cell-cell adhesion

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

Exfoliative ichthyosis

1 reference

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27476651%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Diana Blaydon

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27476651%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

author name string

Manuela Pigors

1

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27476651%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Ofer Sarig

2

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27476651%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Lisa Heinz

3

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27476651%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Judith Fischer

5

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27476651%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Janan Mohamad

6

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27476651%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Natalia Malchin

7

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27476651%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Shefali Rajpopat

8

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27476651%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Monia Kharfi

9

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27476651%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Eli Sprecher

11

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27476651%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Vincent Plagnol

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27476651%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Giles G Lestringant

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27476651%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

language of work or name

English

0 references

publication date

28 July 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27476651%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

20 March 2020

published in

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27476651%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

volume

99

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27476651%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

issue

2

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27476651%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

page(s)

430-436

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27476651%20AND%20SRC:MED&resulttype=core&format=json

Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion

20 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=4974070

Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974070

Update of the human and mouse SERPIN gene superfamily

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974070

Association analyses identify six new psoriasis susceptibility loci in the Chinese population

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974070

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974070

A method and server for predicting damaging missense mutations

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974070

Novel insights into cadherin processing by subtilisin-like convertases

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974070

The emerging roles of serine protease cascades in the epidermis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974070

Inhibition of soluble recombinant furin by human proteinase inhibitor 8

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974070

Fast and accurate long-read alignment with Burrows-Wheeler transform

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974070

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=4974070

Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974070

Proteases and proteomics: cutting to the core of human skin pathologies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974070

RhoA activation by CNFy restores cell-cell adhesion in kindlin-2-deficient keratinocytes.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974070

Proteases: common culprits in human skin disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974070

Serpins, immunity and autoimmunity: old molecules, new functions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974070

Cathepsin D, but not cathepsin E, degrades desmosomes during epidermal desquamation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974070

The inhibitory specificity of human proteinase inhibitor 8 is expanded through the use of multiple reactive site residues

27 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/27476651

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Expression, Purification, and Inhibitory Properties of Human Proteinase Inhibitor 8

1 reference

https://pubmed.ncbi.nlm.nih.gov/27476651

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

New and recurrent SERPINB7 mutations in seven Chinese patients with Nagashima-type palmoplantar keratosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/27476651

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2016.06.004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27476651%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27476651%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

2 references

4 January 2017