|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in ATP2A2, encoding the sarco-endoplasmic reticulum calcium pumping ATPase type 2, are identified as the molecular basis of DD.
|
21527373 |
2011 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Three-base deletion mutation c.120_122delGTT in ATP2A2 leads to the unique phenotype of comedonal Darier disease.
|
19995371 |
2010 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We examined 28 Slovenians with DD and screened genomic DNA for ATP2A2 mutations and RNA for splice site mutations.
|
20223560 |
2010 |
|
Keratosis Follicularis
|
1.000 |
Biomarker
|
disease |
CTD_human |
Darier disease (DD) and Hailey-Hailey disease (HHD) are rare autosomal dominantly inherited genodermatoses with mutations in the respective genes, ATP2A2 and ATP2C1, that encode the respective calcium adenosine triphosphatases SERCA2 and PMRI/SPCA1.
|
20338123 |
2010 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We examined 28 Slovenian patients with DD (the cohort of patients represents over 50% of all DD patients in Slovenia) and screened genomic DNA for ATP2A2 mutations and RNA for splice site mutations.
|
20423818 |
2010 |
|
Keratosis Follicularis
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The results do not suggest that neuropsychiatric symptoms are simply a psychological reaction to having a skin disease, but are consistent with the pleiotropy hypothesis that mutations in the ATP2A2 gene, in addition to causing DD, confer susceptibility to neuropsychiatric features.
|
20456342 |
2010 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A mutation of Atp2a2 gene encoding the sarco/endoplasmic reticulum Ca(2+)-ATPase 2 (SERCA2) causes Darier's disease in human and null mutation in one copy of Atp2a2 leads to a high incidence of squamous cell tumor in a mouse model.
|
19840814 |
2010 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel splice-site mutation of ATP2A2 gene in a Chinese family with Darier disease.
|
20857128 |
2010 |
|
Keratosis Follicularis
|
1.000 |
Biomarker
|
disease |
BEFREE |
More systematic studies are expected in order to estimate the true prevalence of bone cysts in DD and the relationship between skeletal changes and ATP2A2 perturbation.
|
19610080 |
2009 |
|
Keratosis Follicularis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutations in the ATP2A2 gene encoding sarco-endoplasmic reticulum calcium pumping ATPase type 2 (SERCA2) have been identified as the molecular basis of DD.
|
18979109 |
2009 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
No indications for HPV involvement in the hypertrophic skin lesions of a Darier disease case without ATP2A2 gene mutations.
|
19674205 |
2009 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Two novel frame-shift mutations of ATP2A2 gene in Chinese patients with Darier's disease.
|
18482030 |
2008 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Darier's disease (DD), an autosomal dominant inherited disorder of the skin, arising due to mutations in the isoform 2 of the sarco (endo) plasmic reticulum Ca(2+) ATPase (SERCA2), exemplifies an anomaly of Ca(2+) signaling disturbances.
|
18049860 |
2008 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Darier disease (DD) and Hailey-Hailey disease (HHD) are autosomal dominantly inherited genodermatosis, caused by mutations in ATP2A2 gene and ATP2C1 respectively.
|
18060195 |
2007 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Darier's disease.
|
16958257 |
2006 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our data add new variants to the repertoire of ATP2A2 gene in DD and confirms that most mutations in the ATP2A2 gene are private and missense type.
|
16552539 |
2006 |
|
Keratosis Follicularis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Haploinsufficiency of the ATP2A2 gene product, SERCA2, underlies most cases of Darier's disease.
|
16541093 |
2006 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A mutation in the ATP2A2 gene has been shown to be associated with AKV and with Darier's disease (DD).
|
16716163 |
2006 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Our data add new variants to the repertoire of ATP2A2 gene in DD and confirms that most mutations in the ATP2A2 gene are private and missense type.
|
16552539 |
2006 |
|
Keratosis Follicularis
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
These findings put forward a novel consequence of compromised SERCA2 function in DD wherein up-regulation of TRPC1 augments cell proliferation and restrict apoptosis.
|
16899508 |
2006 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Comprehensive analysis of expression and function of 51 sarco(endo)plasmic reticulum Ca2+-ATPase mutants associated with Darier disease.
|
16766529 |
2006 |
|
Keratosis Follicularis
|
1.000 |
Biomarker
|
disease |
CTD_human |
Darier's disease is caused by mutations of the ATP2A2 gene, which codes for the SERCA2 endoplasmic reticulum calcium pump.
|
16733453 |
2006 |
|
Keratosis Follicularis
|
1.000 |
Biomarker
|
disease |
BEFREE |
A null mutation in one copy of the Atp2a2 or ATP2A2 gene, encoding sarco(endo)plasmic reticulum Ca2+-ATPase isoform 2 (SERCA2), leads to squamous cell tumors in mice and to Darier disease in humans, a skin disorder that also involves keratinocytes.
|
16204033 |
2005 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Darier's disease (DD) and Hailey-Hailey disease (HHD) are skin disorders arising, respectively, from autosomal dominant mutations in ATP2A2, encoding the sacro/endoplasmic reticulum calcium ATPase, and ATP2C1, encoding the Golgi apparatus calcium ATPase.
|
15888147 |
2005 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Three novel mutations in the ATP2A2 gene in Hungarian families with Darier's disease, including a novel splice site generating intronic nucleotide change.
|
15927817 |
2005 |