|
Dermatologic disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Darier disease (DD) is an autosomal dominant skin disorder caused by mutations in ATP2A2 encoding the sarco/endoplasmic reticulum Ca<sup>2+</sup> ATPase Isoform 2 (SERCA2).
|
30345710 |
2018 |
|
Dermatologic disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
ATP2A2 mutations cause another hereditary skin disorder, Darier's disease (DD).
|
25256005 |
2015 |
|
Dermatologic disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Darier's disease (DD), caused by mutations in the endoplasmic reticulum (ER) Ca(2+) ATPase ATP2A2 (SERCA2b), is a skin disease that exhibits impaired epidermal cell-to-cell adhesion and altered differentiation.
|
22277942 |
2012 |
|
Dermatologic disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in the ATP2A2 gene, which encoded the sarcoplasmic/endoplasmic reticulum Ca(2+) -ATPase isoform 2 (SERCA2), are responsible for this skin disorder.
|
22004489 |
2011 |
|
Dermatologic disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in sarcoplasmic/endoplasmic reticulum calcium ATPase 2 (SERCA2) underlie Darier disease (DD), a dominantly inherited skin disorder characterized by loss of keratinocyte adhesion (acantholysis) and abnormal keratinization (dyskeratosis) resulting in characteristic mucocutaneous abnormalities.
|
22045735 |
2011 |
|
Dermatologic disorders
|
0.100 |
AlteredExpression
|
group |
LHGDN |
Expression of SERCA2 (Darier's disease gene product) in acantholytic dermatoses.
|
16675202 |
2006 |
|
Dermatologic disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Collectively, these findings provide the first survey on phenotypic consequences of depleted SERCA-gated stores for epidermal homeostasis that explain how depleted SERCA2 calcium stores provoke focal lesions rather than generalized dermatoses, a phenotype highly reminiscent of the human genodermatosis Darier disease.
|
16397524 |
2006 |
|
Dermatologic disorders
|
0.100 |
Biomarker
|
group |
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 |
|
Dermatologic disorders
|
0.100 |
GeneticVariation
|
group |
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 |
|
Dermatologic disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In humans, mutations in SERCA1 (ATP2A1) cause Brody disease, an impairment of skeletal muscle relaxation; loss of one copy of the SERCA2 (ATP2A2) gene causes Darier disease, a skin disorder; and loss of one copy of the SPCA1 (ATP2C1) gene causes Hailey-Hailey disease, another skin disorder.
|
12763865 |
2003 |