|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
(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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
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 |
Biomarker
|
disease |
LHGDN |
In this report, we studied a family affected with Darier's disease and identified a deletion (2993delTG) in a region of exon 20 of ATP2A2, which is specific for SERCA2b.
|
12925205 |
2003 |
|
Keratosis Follicularis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Our findings confirm that mutations in ATP2A2 are associated with DD.
|
10441325 |
1999 |
|
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 |