(Q33870392)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10441323%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

title

Spectrum of novel ATP2A2 mutations in patients with Darier's disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10441323%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10441323%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

author name string

A Sakuntabhai

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10441323%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

S Burge

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10441323%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

S Monk

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10441323%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

publication date

1 September 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10441323%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10441323%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

volume

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10441323%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

page(s)

1611-1619

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10441323%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10441323%20AND%20SRC:MED&resulttype=core&format=json

Darier-White disease: A review of the clinical features in 163 patients

11 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1611

The phenotype of Darier's disease: penetrance and expressivity in adults and children

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1611

An immunohistological study of desmosomes in Darier's disease and Hailey-Hailey disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1611

The gene for Darier's disease maps to chromosome 12q23-q24.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1611

Refined genetic mapping of the darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1611

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1611

Amino-acid sequence of a Ca2+ + Mg2+-dependent ATPase from rabbit muscle sarcoplasmic reticulum, deduced from its complementary DNA sequence.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1611

The mechanism of Ca2+ transport by sarco(endo)plasmic reticulum Ca2+-ATPases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1611

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1611

Calcium oscillations increase the efficiency and specificity of gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1611

Cell-permeant caged InsP3 ester shows that Ca2+ spike frequency can optimize gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1611

Dependence of epithelial intercellular junction biogenesis on thapsigargin-sensitive intracellular calcium stores

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1611

Increased frequency of calcium waves in Xenopus laevis oocytes that express a calcium-ATPase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1611

ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1611

Location of high affinity Ca2+-binding sites within the predicted transmembrane domain of the sarcoplasmic reticulum Ca2+-ATPase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1611

Linkage Analyses in British Pedigrees Suggest a Single Locus for Darier Disease and Narrow the Location to the Interval between D12S105 and D12S129

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1611

21 January 2018

Identifiers

DOI

10.1093/HMG/8.9.1611

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10441323%20AND%20SRC:MED&resulttype=core&format=json

release_iphrjmh245f27mjhbl5w6yre5e

11 December 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/iphrjmh245f27mjhbl5w6yre5e

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference