|
Keratosis Follicularis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Keratosis Follicularis
|
1.000 |
Biomarker
|
disease |
MGD |
Impaired cardiac performance in heterozygous mice with a null mutation in the sarco(endo)plasmic reticulum Ca2+-ATPase isoform 2 (SERCA2) gene.
|
9891028 |
1999 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Our findings confirm that mutations in ATP2A2 are associated with DD.
|
10441325 |
1999 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Now we report a spectrum of ATP2A2 mutations in 19 families and six sporadic cases with DD and investigate genotype-phenotype correlations.
|
10441323 |
1999 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recent linkage studies suggest the existence of a bipolar susceptibility gene on chromosome 12q23-q24.1 in the region of the Darier's disease (DAR) gene.
|
10050970 |
1999 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The cause of DD was shown recently to be mutation in the ATP2A2 gene at 12q24.1, which encodes the sarco-endoplasmic reticulum calcium ATPase type 2 (SERCA2).
|
10441324 |
1999 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our findings confirm that mutations in ATP2A2 are associated with DD.
|
10441325 |
1999 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our results demonstrate that mutations in ATP2A2 cause DD and disclose a role for this pump in a Ca(2+)-signalling pathway regulating cell-to-cell adhesion and differentiation of the epidermis.
|
10080178 |
1999 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Now we report a spectrum of ATP2A2 mutations in 19 families and six sporadic cases with DD and investigate genotype-phenotype correlations.
|
10441323 |
1999 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The cause of DD was shown recently to be mutation in the ATP2A2 gene at 12q24.1, which encodes the sarco-endoplasmic reticulum calcium ATPase type 2 (SERCA2).
|
10441324 |
1999 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Our results demonstrate that mutations in ATP2A2 cause DD and disclose a role for this pump in a Ca(2+)-signalling pathway regulating cell-to-cell adhesion and differentiation of the epidermis.
|
10080178 |
1999 |
|
Keratosis Follicularis
|
1.000 |
Biomarker
|
disease |
MGD |
Disruption of a single copy of the SERCA2 gene results in altered Ca2+ homeostasis and cardiomyocyte function.
|
10970890 |
2000 |
|
Keratosis Follicularis
|
1.000 |
Biomarker
|
disease |
BEFREE |
This study demonstrates that defects in ATP2C1 cause HHD and together with the recent identification of ATP2A2 as the defective gene in Darier's disease, provide further evidence of the critical role of Ca(2+)signaling in maintaining epidermal integrity.
|
10767338 |
2000 |
|
Keratosis Follicularis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Recently, we identified ATP2A2, which encodes the sarco/endoplasmic reticulum Ca(2+) ATPase isoform 2 as the defective gene in Darier's disease.
|
11121153 |
2000 |
|
Keratosis Follicularis
|
1.000 |
Biomarker
|
disease |
BEFREE |
We screened ATP2A2 in a cohort of 24 DD families using conformation sensitive gel electrophoresis and direct sequencing, and detected 14 distinct mutations, 9 of which were novel.
|
11168576 |
2001 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These results demonstrate that distinct ATP2A2 gene mutations are present in Japanese DD patients.
|
11390201 |
2001 |
|
Keratosis Follicularis
|
1.000 |
Biomarker
|
disease |
BEFREE |
ATP2A2, the gene that is abnormal in Darier's disease, encodes SERCA2, a calcium pump that is expressed in many tissues.
|
11722459 |
2001 |
|
Keratosis Follicularis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Recently, pathogenetic mutations have been identified in two genetic diseases frequently co-morbid with mood disorder; WFS1 for Wolfram syndrome and ATP2A2 (SERCA2) for Darier's disease.
|
11377748 |
2001 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study we have investigated the Darier's disease gene ATP2A2, the calcium pumping ATPase SERCA2, as a potential susceptibility gene for bipolar disorder under the hypothesis that variations in SERCA2 have pleiotropic effects in brain.
|
11244492 |
2001 |
|
Keratosis Follicularis
|
1.000 |
Biomarker
|
disease |
MGD |
Mutations in the human ATP2A2 gene, encoding sarco(endo)plasmic reticulum Ca(2+)-ATPase isoform 2 (SERCA2), cause Darier disease, an autosomal dominant skin disease characterized by multiple keratotic papules in the seborrheic regions of the body.
|
11389134 |
2001 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Darier's disease (DD) is a high penetrance, autosomal dominant mutation in the ATP2A2 gene, which encodes the SERCA2 Ca2+ pump.
|
11387203 |
2001 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
(1) We have previously reported a family in which major affective disorder co-segregated with Darier's disease, consistent with linkage between the Darier gene and a susceptibility locus for affective illness (max lod = 2.1).(2) The Darier gene has been mapped to 12q 23-q24.1 and identified as ATP2A2, a gene encoding SERCA2-a sarcoplasmic/endoplasmic reticulum calcium pump that plays a role in intracellular calcium signalling.
|
11986988 |
2002 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To identify mutations of the ATP2A2 gene in Taiwanese patients with DD.
|
12072062 |
2002 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ATP2A2 gene encoding sarco/endoplasmic reticulum calcium pumping ATPase type 2 have been identified as the molecular basis of Darier's disease.
|
12890216 |
2003 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
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 |