(Q30351899)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23830519%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

title

Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23830519%20AND%20SRC:MED&resulttype=core&format=json

nonepidermolytic palmoplantar keratoderma

4 March 2020

main subject

0 references

author

Vincent Plagnol

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23830519%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Diana Blaydon

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23830519%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Irwin McLean

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23830519%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Edel O'Toole

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23830519%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

David P. Kelsell

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23830519%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

author name string

Lisbet K Lind

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23830519%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Kenneth J Linton

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23830519%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Francis J D Smith

5

1 reference

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4 March 2020

Neil J Wilson

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23830519%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Colin S Munro

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23830519%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Andrew P South

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23830519%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Irene M Leigh

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23830519%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Anita Lundström

12

1 reference

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4 March 2020

language of work or name

English

0 references

publication date

3 July 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23830519%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

4 March 2020

published in

1 reference

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4 March 2020

volume

93

1 reference

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4 March 2020

issue

2

1 reference

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4 March 2020

page(s)

330-335

1 reference

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The gating mechanism of the human aquaporin 5 revealed by molecular dynamics simulations

4 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=3738836

A novel role for aquaporin-5 in enhancing microtubule organization and stability

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738836

Aquaporin 0 enhances gap junction coupling via its cell adhesion function and interaction with connexin 50.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738836

Aquaporin 5 polymorphisms and rate of lung function decline in chronic obstructive pulmonary disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738836

Structural insights into eukaryotic aquaporin regulation.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738836

High-resolution x-ray structure of human aquaporin 5

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738836

Shear stress regulates aquaporin-5 and airway epithelial barrier function

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738836

Junction-forming aquaporins.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738836

Palmoplantar keratodermas

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738836

From structure to disease: the evolving tale of aquaporin biology

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738836

Three families with autosomal dominant nephrogenic diabetes insipidus caused by aquaporin-2 mutations in the C-terminus.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738836

Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738836

Mutations in GJB6 cause hidrotic ectodermal dysplasia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738836

Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738836

A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738836

An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738836

Increased microtubule stability and alpha tubulin acetylation in cells transfected with microtubule-associated proteins MAP1B, MAP2 or tau

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738836

The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738836

Aquagenic (pseudo) keratoderma: a clinical series with new pathological insights.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738836

Aquaporin-3-dependent cell migration and proliferation during corneal re-epithelialization

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738836

Neutrophil leukocyte motility requires directed water influx

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738836

Molecular structure of the water channel through aquaporin CHIP. The hourglass model.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738836

Fine genetic mapping of diffuse non-epidermolytic palmoplantar keratoderma to chromosome 12q11-q13: exclusion of the mapped type II keratins

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23830519

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23830519

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2013.06.008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23830519%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23830519%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

PubMed publication ID

23830519

1 reference