(Q51982556)

English

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

scientific article published in September 1999

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/10441324

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

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/10441324

Victor L Ruiz-Perez

1

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/10441324

3

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/10441324

author name string

Carter SA

2

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/10441324

Todd C

4

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/10441324

Rees JL

5

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/10441324

Steijlen PM

6

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/10441324

Carmichael AJ

7

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/10441324

Lewis HM

8

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/10441324

Hohl D

9

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/10441324

Itin P

10

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/10441324

Vahlquist A

11

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/10441324

Gobello T

12

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/10441324

Mazzanti C

13

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/10441324

Reggazini R

14

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/10441324

Nagy G

15

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/10441324

Munro CS

16

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/10441324

Strachan T

17

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/10441324

publication date

1 September 1999

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/10441324

Human Molecular Genetics

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/10441324

8

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/10441324

9

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/10441324

1621-1630

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/10441324

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1621

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1621

21 January 2018

WOLOSHIN AA: Darier's disease. An evaluation of its neuropsychiatric component.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1621

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1621

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1621

21 January 2018

Localization of the gene for Darier disease to a 5-cM interval on chromosome 12q.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1621

21 January 2018

Localization of the Darier disease gene to a 2-cM portion of 12q23-24.1.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1621

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1621

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1621

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1621

21 January 2018

Elementary and global aspects of calcium signalling

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1621

21 January 2018

Antibodies against the non-muscle isoform of the endoplasmic reticulum Ca2(+)-transport ATPase

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1621

21 January 2018

Expression of endoplasmic-reticulum Ca2(+)-pump isoforms and of phospholamban in pig smooth-muscle tissues

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1621

21 January 2018

Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1621

21 January 2018

Mutations in a plasma membrane Ca2+-ATPase gene cause deafness in deafwaddler mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1621

21 January 2018

Evidence for two isoforms of the endoplasmic-reticulum Ca2+ pump in pig smooth muscle

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1621

21 January 2018

The functional importance of the extreme C-terminal tail in the gene 2 organellar Ca(2+)-transport ATPase (SERCA2a/b).

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1621

21 January 2018

A perfect message: RNA surveillance and nonsense-mediated decay

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1621

21 January 2018

Calcium-induced reorganization of desmosomal components in cultured human keratinocytes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1621

21 January 2018

Organization of desmosomal plaque proteins in cells growing at low calcium concentrations.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1621

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1621

21 January 2018

Spectrum of novel ATP2A2 mutations in patients with Darier's disease.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1621

21 January 2018

Distribution and isoform diversity of the organellar Ca2+ pumps in the brain

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1621

21 January 2018

Distribution of the organellar Ca2+ transport ATPase SERCA2 isoforms in the cat brain.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1621

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1621

21 January 2018

Identifiers

10.1093/HMG/8.9.1621

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/10441324

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/10441324

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q51982556&oldid=949619876"