Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We investigated genotype-phenotype correlations between lifetime neuropsychiatric features and ATP2A2 mutation type (dichotomized into likely gene disrupting [LGD] or protein altering) in 75 unrelated individuals with DD.
|
30345710 |
2018 |
Keratosis Follicularis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Gene silencing of ATP2A2 in keratinocytes grown in a 3D model resulted in dyskeratosis, partial parakeratosis and suprabasal clefts that resembled the histological changes seen in skin biopsies from patients with DD.
|
28094886 |
2017 |
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Having the entire spectrum of ATP2A2 and ATP2C1 variants allows us to address the question of a genotype-phenotype correlation, which has not been settled unequivocally in DD and HHD.
|
28035777 |
2017 |
Keratosis Follicularis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Collectively, our data demonstrate that loss of SERCA2 impairs ER-to-Golgi transport of nascent DC, which may contribute to DD pathogenesis.
|
28156030 |
2017 |
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Having the entire spectrum of ATP2A2 and ATP2C1 variants allows us to address the question of a genotype-phenotype correlation, which has not been settled unequivocally in DD and HHD.
|
28035777 |
2017 |
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease.
|
28498512 |
2017 |
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The only non-LGD mutation (p.C560R) reported in patients with Darier's disease and BD caused decreased ATP2A2 protein expression.
|
27106560 |
2016 |
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Darier disease (DD) is a rare genodermatosis caused by heterozygous mutations in the ATP2A2 gene.
|
26471493 |
2016 |
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our findings provide an additional ATP2A2 mutation causative for DD development, and new lines of evidences for the understanding of genotype-phenotype correlations.
|
25283811 |
2015 |
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The association between Darier disease and bipolar disorder is manifest also in the population, and our data suggest that genetic variability within the ATP2A2 gene that causes Darier disease also confers susceptibility for bipolar disorder.
|
25213221 |
2015 |
Keratosis Follicularis
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Previously, the compensatory expression of SPCA1 for SERCA2 insufficiency in DD was demonstrated, but it is not known whether a similar compensatory mechanism exists in HHD.
|
25256005 |
2015 |
Keratosis Follicularis
|
1.000 |
Biomarker
|
disease |
BEFREE |
These data reveal myofibrillar Ca(2+)-sensitivity to be an important determinant of the cardiac effects of SERCA2 haploinsufficiency and raise the possibility that Darier disease patients are more susceptible to heart failure under certain conditions.
|
26064889 |
2015 |
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These mutations may contribute to the expanding database of ATP2A2 gene mutations in patients with DD.
|
25872913 |
2015 |
Keratosis Follicularis
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
A novel missense mutation of ATP2A2 gene in a Chinese family with Darier disease.
|
23621824 |
2014 |
Keratosis Follicularis
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
We identified 66 potentially pathogenic mutations in ATP2A2 for 74 of the 95 individuals with DD of which 45 (68%) are thought to be novel.
|
23356892 |
2013 |
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We identified 66 potentially pathogenic mutations in ATP2A2 for 74 of the 95 individuals with DD of which 45 (68%) are thought to be novel.
|
23356892 |
2013 |
Keratosis Follicularis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here, we report early evidence that the keratinocyte sphingolipid and Ca(2+) signaling pathways intersect in ATP2A2-controlled ER Ca(2+) sequestration, E-cadherin and DP localization, and Ca(2+)-controlled differentiation, and thus may be important mediators in DD.
|
22277942 |
2012 |
Keratosis Follicularis
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
The results will contribute to the expanding database of ATP2A2 mutations in patients with DD and be useful for inherited counseling and prenatal examination for affected families.
|
22909361 |
2012 |
Keratosis Follicularis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Cyclooxygenase-2 inhibition restores ultraviolet B-induced downregulation of ATP2A2/SERCA2 in keratinocytes: possible therapeutic approach of cyclooxygenase-2 inhibition for treatment of Darier disease.
|
22413864 |
2012 |
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here we report two Chinese families affected by DD with two ATP2A2 mutations.
|
22909361 |
2012 |
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Both mutations were not among the 162 mutations in ATP2A2, which were reported to date in DD.
|
22814319 |
2012 |
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we review the role of SERCA2 pumps and calcium in normal epidermis, and we discuss the consequences of ATP2A2 mutations on Ca(2+) signaling in DD.
|
21167218 |
2011 |
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Seven novel mutations in the ATP2A2 gene of Austrian patients with Darier's disease.
|
21519848 |
2011 |
Keratosis Follicularis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Systematic analysis of diverse mutants identical to those found in DD patients demonstrated that the ER stress initiator is the SERCA2 mutant protein itself.
|
22045735 |
2011 |
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification of mutation c.632G>A (p.G211D) in the ATP2A2 gene and genotype-phenotype correlation in a large Chinese family with Darier's disease.
|
22004489 |
2011 |