|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Darier disease (DD) is caused by mutations of the ATP2A2 gene, which encodes the sarco/endoplasmic reticulum Ca(2+)-ATPase isoform 2 (SERCA2).
|
15316170 |
2004 |
|
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 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The role of extracellular Ca2+ in cell-to-cell adhesion and in epidermal differentiation was known to be important, but the identification of the sarco/endoplasmic reticulum Ca2+ transport ATPase (ATP2A2) as the defective gene in a rare genetic skin disease known as Darier's disease, came as a surprise and shed light on the key role of Ca2+ signaling in the homeostasis of the epidermis.
|
15336971 |
2004 |
|
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 |
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 |
These results demonstrate that distinct ATP2A2 gene mutations are present in Japanese DD patients.
|
11390201 |
2001 |
|
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 |
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 |
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 |
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 |
A 44-year-old DD woman had a novel T insertion at nucleotide 559 in exon 7 of the ATP2A2 gene, which resulted in a premature termination codon (PTC) at codon 192.
|
15186327 |
2004 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Darier's disease.
|
16958257 |
2006 |
|
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 |
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 |
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 |
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 |
Darier disease (DD) is a rare genodermatosis caused by heterozygous mutations in the ATP2A2 gene.
|
26471493 |
2016 |
|
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 |
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 |
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 |
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 |
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 |
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 |
Two novel frame-shift mutations of ATP2A2 gene in Chinese patients with Darier's disease.
|
18482030 |
2008 |