Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease

Sakuntabhai, Anavaj; Ruiz-Perez, Victor; Carter, Simon; Jacobsen, Nick; Burge, Susan; Monk, Sarah; Smith, Melanie; Munro, Colin S.; O'Donovan, Michael; Craddock, Nick; Kucherlapati, Raju; Rees, Jonathan L.; Owen, Mike; Lathrop, G. Mark; Monaco, Anthony P.; Strachan, Tom; Hovnanian, Alain

doi:10.1038/6784

Cited by 740Genetic and rare skin diseases.Skin and Cellular Biology ResearchGenomics and Rare Diseases

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease

Open access

Sakuntabhai, Anavaj, Ruiz-Perez, Victor, Carter, Simon, Jacobsen, Nick, Burge, Susan, Monk, Sarah, Smith, Melanie, Munro, Colin S. +9 more·1999·Nature Genetics

DOI 10.1038/6784

Open this paper in CoChat — free account

Abstract

Darier disease (DD) is an autosomal-dominant skin disorder characterized by loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. Recently we constructed a 2.4-Mb, P1-derived artificial chromosome contig spanning the DD candidate region on chromosome 12q23-24.1. After screening several genes that mapped to this region, we identified mutations in the ATP2A2 gene, which encodes the sarco/endoplasmic reticulum Ca2(+)-ATPase type 2 isoform (SERCA2) and is highly expressed in keratinocytes. Thirteen mutations were identified, including frameshift deletions, in-frame deletions or insertions, splice-site mutations and non-conservative missense mutations in functional domains. 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.

Integrity signals

Registry

Crossref · 10.1038/6784

Cites

42 of 42 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

We couldn’t retrieve this paper’s full text, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Mutations in ATP2A2 cause Darier Disease, which co-segregates with bipolar disorder in several multiplex pedigrees and is associated with bipolar disorder and schizophrenia at a population level.
“Mutations in ATP2A2 cause Darier Disease21, which co-segregates with bipolar disorder in several multiplex pedigrees and is associated with bipolar disorder and schizophrenia at a population level22.”
From Mapping genomic loci implicates genes and synaptic biology in schizophrenia (2022) · cites this paper as [21]

Calcium - a life and death signal
Berridge, M. J., Bootman, M. D., & Lipp, P. (1998) · Nature · doi:10.1038/27094 · Cited by 2,064 · see citing works
Calcium oscillations increase the efficiency and specificity of gene expression
Dolmetsch, R. E., Xu, K., & Lewis, R. S. (1998) · Nature · doi:10.1038/31960 · Cited by 1,896 · see citing works
Thapsigargin inhibits the sarcoplasmic or endoplasmic reticulum Ca-ATPase family of calcium pumps.
Lytton, J., Westlin, M., & Hanley, M. (1991) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)47340-7 · Cited by 1,305 · see citing works
Amino-acid sequence of a Ca2+ + Mg2+ -dependent ATPase from rabbit muscle sarcoplasmic reticulum, deduced from its complementary DNA sequence
MacLennan, D. H., Brandl, C. J., Korczak, B. M., & Green, N. M. (1985) · Nature · doi:10.1038/316696a0 · Cited by 1,127 · see citing works
Molecular and cellular physiology of intracellular calcium stores
Pozzan, T., Rizzuto, R., Pompeo Volpe, D., & Meldolesi, J. (1994) · Physiological Reviews · doi:10.1152/physrev.1994.74.3.595 · Cited by 1,113 · see citing works
Two Ca2+ ATPase genes: Homologies and mechanistic implications of deduced amino acid sequences
Brandl, C. J., Green, N. M., Korczak, B. M., & MacLennan, D. H. (1986) · Cell · doi:10.1016/0092-8674(86)90269-2 · Cited by 812 · see citing works
The Heart and Cardiovascular System
Curtis, M. J. (1992) · Cardiovascular Research · doi:10.1093/cvr/26.7.720b · Cited by 665 · see citing works
Location of high affinity Ca2 +-binding sites within the predicted transmembrahe domain of the sarco-plasmic reticulum Ca2+-ATPase
Clarke, D. M., Loo, T. W., Inesi, G., & MacLennan, D. H. (1989) · Nature · doi:10.1038/339476a0 · Cited by 569 · see citing works
The yeast secretory pathway is perturbed by mutations in PMR1, a member of a Ca2+ ATPase family
Rudolph, H. K., Antebi, A., Fink, G. R., Buckley, C. M. F., Dorman, T. E., LeVitre, J., Davidow, L. S., Mao, J.-I., & Moir, D. T. (1989) · Cell · doi:10.1016/0092-8674(89)90410-8 · Cited by 536 · see citing works
When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.
Maquat, L. E. (1995) · PubMed · Cited by 515 · see citing works
Darier-White disease: A review of the clinical features in 163 patients
BURGE, S. M., & WILKINSON, J. D. (1992) · Journal of the American Academy of Dermatology · doi:10.1016/0190-9622(92)70154-8 · Cited by 491 · see citing works
Self-citation
Molecular cloning of cDNAs from human kidney coding for two alternatively spliced products of the cardiac Ca2+-ATPase gene.
Lytton, J., & MacLennan, D. H. (1988) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)68141-4 · Cited by 376 · see citing works
Calcium-induced reorganization of desmosomal components in cultured human keratinocytes.
Watt, F. M., Mattey, D. L., & Garrod, D. R. (1984) · The Journal of Cell Biology · doi:10.1083/jcb.99.6.2211 · Cited by 305 · see citing works
Mutations in a plasma membrane Ca2+-ATPase gene cause deafness in deafwaddler mice
Street, V. A., McKee-Johnson, J. W., Fonseca, R. C., Tempel, B. L., & Noben‐Trauth, K. (1998) · Nature Genetics · doi:10.1038/1284 · Cited by 283 · see citing works
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma [published erratum appears in Hum Mol Genet 1999 May;8(5):943]
Armstrong, D. K. B. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.1.143 · Cited by 265 · see citing works
Defining the Interactions Between Intermediate Filaments and Desmosomes
Smith, E. A., & Fuchs, E. V. (1998) · The Journal of Cell Biology · doi:10.1083/jcb.141.5.1229 · Cited by 261 · see citing works
Mutations in the gene–encoding SERCA1, the fast–twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease
Odermatt, A., Taschner, P. E. M., Khanna, V. K., Busch, H. F. M., Karpati, G., Jablecki, C. K., Breuning, M. H., & MacLennan, D. H. (1996) · Nature Genetics · doi:10.1038/ng1096-191 · Cited by 241 · see citing works
Transient Acantholytic Dermatosis
Grover, R. W. (1970) · Archives of Dermatology · doi:10.1001/archderm.1970.04000040048010 · Cited by 199 · see citing works
Desmosomal cadherins: another growing multigene family of adhesion molecules
Koch, P. J., & Franke, W. W. (1994) · Current Opinion in Cell Biology · doi:10.1016/0955-0674(94)90094-9 · Cited by 196 · see citing works
FAMILIAL BENIGN CHRONIC PEMPHIGUS
Hailey, H. (1939) · Archives of Dermatology · doi:10.1001/archderm.1939.01480220064005 · Cited by 186 · see citing works
Desmosomes: differentiation, development, dynamics and disease
Garrod, D. R., Chidgey, M., & North, A. J. (1996) · Current Opinion in Cell Biology · doi:10.1016/s0955-0674(96)80108-6 · Cited by 162 · see citing works
FAMILIAL BENIGN CHRONIC PEMPHIGUS
Hailey, H. (1982) · Archives of Dermatology · doi:10.1001/archderm.1982.01650220078009 · Cited by 146 · see citing works
The phenotype of Darier's disease: penetrance and expressivity in adults and children
Munro, C. S. (1992) · British Journal of Dermatology · doi:10.1111/j.1365-2133.1992.tb08044.x · Cited by 145 · see citing works
Self-citation
Organization of desmosomal plaque proteins in cells growing at low calcium concentrations.
Duden, R., & Franke, W. W. (1988) · The Journal of Cell Biology · doi:10.1083/jcb.107.3.1049 · Cited by 133 · see citing works
The gene for Darier's disease maps to chromosome 12q23–q24.1
Craddock, N. J., Dawson, E., BURGE, S. M., Parfitt, L., mant, B., Roberts, Q., Daniels, J., Gill, M., McGuffin, P., Powell, J. F., et al. (1993) · Human Molecular Genetics · doi:10.1093/hmg/2.11.1941 · Cited by 113 · see citing works
Self-citation
Dependence of Epithelial Intercellular Junction Biogenesis on Thapsigargin-sensitive Intracellular Calcium Stores
Stuart, R. O., Sun, A. M., Bush, K. T., & Nigám, S. K. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.23.13636 · Cited by 109 · see citing works
An immunohistological study of desmosomes in Darier's disease and Hailey-Hailey disease
BURGE, S. M., & Garrod, D. R. (1991) · British Journal of Dermatology · doi:10.1111/j.1365-2133.1991.tb00568.x · Cited by 108 · see citing works
Self-citation
Ca2+ extrusion across plasma membrane and Ca2+ uptake by intracellular stores
Missiaen, L., Wuytack, F., Raeymaekers, L., Smed, H. D., Droogmans, G., Declerck, I., & Casteels, R. (1991) · Pharmacology & Therapeutics · doi:10.1016/0163-7258(91)90014-d · Cited by 99 · see citing works
Changes in intracellular calcium during the development of epithelial polarity and junctions.
Nigám, S. K., Rodriguez-Boulan, E., & Silver, R. B. (1992) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.89.13.6162 · Cited by 87 · see citing works
The plasma membrane calcium pump: Recent developments and future perspectives
Carafoli, E., García‐Martín, E., & Guerini, D. (1996) · Cellular and Molecular Life Sciences · doi:10.1007/bf01952107 · Cited by 84 · see citing works
The role of endoplasmic reticulum calcium pumps during cytosolic calcium spiking in pancreatic acinar cells.
Petersen, C. C. H., Petersen, O. H., & Berridge, M. J. (1993) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)41521-9 · Cited by 78 · see citing works
Aspects of the structure and assembly of desmosomes
Burdett, I. D. J. (1998) · Micron · doi:10.1016/s0968-4328(98)00015-8 · Cited by 78 · see citing works
Distribution and isoform diversity of the organellar Ca2+ pumps in the brain
Baba‐Aïssa, F., Raeymaekers, L., Wuytack, F., Dode, L., & Casteels, R. (1998) · Molecular and Chemical Neuropathology · doi:10.1007/bf02815182 · Cited by 77 · see citing works
The nucleotide binding/hinge domain plays a crucial role in determining isoform-specific Ca2+ dependence of organellar Ca(2+)-ATPases.
Toyofuku, T., Kurzydlowski, K., Lytton, J., & MacLennan, D. H. (1992) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)49739-1 · Cited by 75 · see citing works
Localisation of a gene for Darier's disease
Bashir, R., Munro, C. S., Mason, S., Stephenson, A. M., Rees, J. L., & Strachan, T. (1993) · Human Molecular Genetics · doi:10.1093/hmg/2.11.1937 · Cited by 65 · see citing works
Self-citation
The gene for Darier's disease maps between D12S78 and D12S79
Parfitt, E., BURGE, S. M., Craddock, N. J., Roberts, E. E., McLean, W. H. I., Weissenbach, J., McGuffln, P., & Owen, M. J. (1994) · Human Molecular Genetics · doi:10.1093/hmg/3.1.35 · Cited by 32 · see citing works
Self-citation
Localization of the Darier Disease Gene to a 2-cM Portion of 12q23-24.1
Wakem, P., Ikeda, S., Haake, A. R., Polakowska, R. R., Ewing, N. N., Sarret, Y., Duvic, M. A., Berg, D., Bassett, A. S., Kennedy, J. L., et al. (1996) · Journal of Investigative Dermatology · doi:10.1111/1523-1747.ep12343145 · Cited by 27 · see citing works
Localization of the Gene for Darier Disease to a 5-cM Interval on Chromosome 12q
Ikeda, S., Wakem, P., Haake, A. R., Ewing, N. N., Polakowska, R. R., Sarret, Y., Trattner, A., David, M., Shohat, M., Schroeder, D. W., et al. (1994) · Journal of Investigative Dermatology · doi:10.1111/1523-1747.ep12395577 · Cited by 20 · see citing works
Structure-function relationships in the Ca(2+)-binding and translocation domain of SERCA1: physiological correlates in Brody disease.
MacLennan, D. H., Rice, W. J., Odermatt, A., & Green, N. M. (1998) · PubMed · Cited by 17 · see citing works
Cohesion in the epidermis
BURGE, S. M. (2006) · British Journal of Dermatology · doi:10.1111/j.1365-2133.1994.tb08485.x · Cited by 16 · see citing works
Self-citation
Refined Genetic Mapping of the Darier Locus to a <1-cM Region of Chromosome 12q24.1, and Construction of a Complete, High-Resolution P1 Artificial Chromosome/Bacterial Artificial Chromosome Contig of the Critical Region
Monk, S., Sakuntabhai, A., Carter, S. A., Bryce, S. D., Cox, R., Mackenzie, L. S., Levy, E. R., Ruiz‐Pérez, V. L., Katsantoni, E. Z., Kodvawala, A., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/301794 · Cited by 15 · see citing works
Self-citation
Linkage Analyses in British Pedigrees Suggest a Single Locus for Darier Disease and Narrow the Location to the Interval between D12S105 and D12S129
Carter, S. A., Bryce, S. D., Munro, C. S., Healy, E., Bashir, R., Weissenbach, J., LeBlanc-Straceski, J., Kucherlapati, R., Stephenson, A. M., Rees, J. L., et al. (1994) · Genomics · doi:10.1006/geno.1994.1632 · Cited by 12 · see citing works
Self-citation

Flagged first, then by citations

Sorted by citations

Initial sequencing and analysis of the human genome
International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216 · see citing works
Mapping genomic loci implicates genes and synaptic biology in schizophrenia
Trubetskoy, V., Pardiñas, A. F., Qi, T., Panagiotaropoulou, G., Awasthi, S., Bigdeli, T. B., Bryois, J., Chen, C.-Y., Dennison, C. A., Hall, L. S., et al. (2022) · Nature · doi:10.1038/s41586-022-04434-5 · Cited by 2,964 · see citing works
The cornified envelope: a model of cell death in the skin
Candi, E., Schmidt, R., & Melino, G. (2005) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm1619 · Cited by 1,776 · see citing works
Phospholamban: a crucial regulator of cardiac contractility
MacLennan, D. H., & Kranias, E. G. (2003) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm1151 · Cited by 1,088 · see citing works
Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009
Oji, V., Tadini, G., Akiyama, M., Blanchet‐Bardon, C., Bodemer, C., Bourrat, E., Coudiere, P., DiGiovanna, J. J., Elias, P. M., Fischer, J., et al. (2010) · Journal of the American Academy of Dermatology · doi:10.1016/j.jaad.2009.11.020 · Cited by 781 · see citing works
Self-citation
SERCA pump isoforms: Their role in calcium transport and disease
Periasamy, M., & Kalyanasundaram, A. (2007) · Muscle & Nerve · doi:10.1002/mus.20745 · Cited by 614 · see citing works
Human skeletal muscle fibres: molecular and functional diversity
Bottinelli, R., & Reggiani, C. (2000) · Progress in Biophysics and Molecular Biology · doi:10.1016/s0079-6107(00)00006-7 · Cited by 584 · see citing works
Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease
Hu, Z., Bonifas, J. M., Beech, J., Bench, G., Shigihara, T., Ogawa, H., Ikeda, S., Mauro, T., & Epstein, E. H. (2000) · Nature Genetics · doi:10.1038/71701 · Cited by 567 · see citing works
Genetics of bipolar disorder
Craddock, N. J., & Jones, I. R. (1999) · Journal of Medical Genetics · doi:10.1136/jmg.36.8.585 · Cited by 523 · see citing works
Self-citation
Endoplasmic-Reticulum Calcium Depletion and DiseasePreprint
Mekahli, D., Bultynck, G., Parys, J. B., SMEDT, H. D., & Missiaen, L. (2011) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a004317 · Cited by 473 · see citing works
Desmosomes: New Perspectives on a Classic
Green, K. J., & Simpson, C. L. (2007) · Journal of Investigative Dermatology · doi:10.1038/sj.jid.5701015 · Cited by 401 · see citing works
Are desmosomes more than tethers for intermediate filaments?
Green, K. J., & Gaudry, C. A. (2000) · Nature Reviews Molecular Cell Biology · doi:10.1038/35043032 · Cited by 393 · see citing works
Epithelial structural proteins of the skin and oral cavity: function in health and disease.
Presland, R., & Dale, B. (2000) · Critical Reviews in Oral Biology and Medicine · doi:10.1177/10454411000110040101 · Cited by 411 · see citing works
Molecular physiology of the SERCA and SPCA pumps
Wuytack, F., Raeymaekers, L., & Missiaen, L. (2002) · Cell Calcium · doi:10.1016/s0143416002001847 · Cited by 331 · see citing works
Physiology and pathophysiology of canonical transient receptor potential channels
Abramowitz, J., & Birnbaumer, L. (2008) · The FASEB Journal · doi:10.1096/fj.08-119495 · Cited by 331 · see citing works
Calcium regulation of keratinocyte differentiation
Bikle, D. D., Xie, Z., & Tu, C. (2012) · Expert Review of Endocrinology & Metabolism · doi:10.1586/eem.12.34 · Cited by 327 · see citing works
Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca2+ pump
Sudbrak, R. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.7.1131 · Cited by 321 · see citing works
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization
Arking, D. E., DCCT/EDIC, Pulit, S. L., Crotti, L., van der Harst, P., Munroe, P. B., Koopmann, T. T., Sotoodehnia, N., Rossin, E. J., Morley, M. P., et al. (2014) · Nature Genetics · doi:10.1038/ng.3014 · Cited by 317 · see citing works
TRPV3 and TRPV4 Mediate Warmth-evoked Currents in Primary Mouse Keratinocytes
Chung, M., Lee, H., Mizuno, A., Suzuki, M., & Caterina, M. J. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m401872200 · Cited by 316 · see citing works
Intercellular Junction Assembly, Dynamics, and HomeostasisPreprint
Green, K. J., Getsios, S., Troyanovsky, S. M., & Godsel, L. M. (2009) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a000125 · Cited by 259 · see citing works
Ca2+-dependent redox modulation of SERCA 2b by ERp57
Li, Y., & Camacho, P. (2003) · The Journal of Cell Biology · doi:10.1083/jcb.200307010 · Cited by 244 · see citing works
Modulating sarco(endo)plasmic reticulum Ca2+ ATPase 2 (SERCA2) activity: Cell biological implications
Vangheluwe, P., Raeymaekers, L., Dode, L., & Wuytack, F. (2005) · Cell Calcium · doi:10.1016/j.ceca.2005.06.033 · Cited by 226 · see citing works
Abnormal intracellular Ca2+homeostasis and disease
Missiaen, L., Robberecht, W., Bosch, L. V. D., Callewaert, G., Parys, J. B., Wuytack, F., Raeymaekers, L., Nilius, B., Eggermont, J., & SMEDT, H. D. (2000) · Cell Calcium · doi:10.1054/ceca.2000.0131 · Cited by 225 · see citing works
The Ca2+ Pumps of the Endoplasmic Reticulum and Golgi ApparatusPreprint
Vandecaetsbeek, I., Vangheluwe, P., Raeymaekers, L., Wuytack, F., & Vanoevelen, J. M. (2011) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a004184 · Cited by 221 · see citing works
The desmosome and pemphigus
Waschke, J. (2008) · Histochemistry and Cell Biology · doi:10.1007/s00418-008-0420-0 · Cited by 215 · see citing works
Regulation of desmosome assembly and adhesion
Yin, T., & Green, K. J. (2004) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2004.09.005 · Cited by 199 · see citing works
TRP Channels in Skin Biology and Pathophysiology
Caterina, M. J., & Pang, Z. (2016) · Pharmaceuticals · doi:10.3390/ph9040077 · Cited by 194 · see citing works
Darier??s Disease
Cooper, S. M., & BURGE, S. M. (2003) · American Journal of Clinical Dermatology · doi:10.2165/00128071-200304020-00003 · Cited by 193 · see citing works
Self-citation
Mutant clones in normal epithelium outcompete and eliminate emerging tumours
Colom, B., Herms, A., Hall, M. W. J., Dentro, S. C., King, C., Sood, R. K., Alcolea, M. P., Piedrafita, G., Fernandez-Antoran, D., Ong, S. H., et al. (2021) · Nature · doi:10.1038/s41586-021-03965-7 · Cited by 192 · see citing works
Desmosomal cadherins
Garrod, D. R., Merritt, A. J., & Nie, Z. (2002) · Current Opinion in Cell Biology · doi:10.1016/s0955-0674(02)00366-6 · Cited by 192 · see citing works
Cell–cell connectivity: desmosomes and disease
Brooke, M. A., Nitoiu, D., & Kelsell, D. P. (2011) · The Journal of Pathology · doi:10.1002/path.3027 · Cited by 187 · see citing works
Desmosome assembly and dynamics
Nekrasova, O. E., & Green, K. J. (2013) · Trends in Cell Biology · doi:10.1016/j.tcb.2013.06.004 · Cited by 177 · see citing works
Sarcoplasmic Reticulum Function in Smooth Muscle
Wray, S., & Burdyga, T. V. (2010) · Physiological Reviews · doi:10.1152/physrev.00018.2008 · Cited by 179 · see citing works
Disorders of Keratinization
Judge, M. R., McLean, W. H. I., & Munro, C. S. (2004) · doi:10.1002/9780470750520.ch34 · Cited by 176 · see citing works
Self-citation
Antibodies against keratinocyte antigens other than desmogleins 1 and 3 can induce pemphigus vulgaris–like lesions
Nguyen, V. T., Ndoye, A., Shultz, L. D., Pittelkow, M. R., & Grando, S. A. (2000) · Journal of Clinical Investigation · doi:10.1172/jci10305 · Cited by 174 · see citing works
Phenotypes of SERCA and PMCA knockout mice
Prasad, V., Okunade, G. W., Miller, M. L., & Shull, G. E. (2004) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2004.07.156 · Cited by 171 · see citing works
Spectrum of novel ATP2A2 mutations in patients with Darier's disease
Sakuntabhai, A., BURGE, S. M., Monk, S., & Hovnanian, A. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.9.1611 · Cited by 163 · see citing works
Self-citation
A human PKD1 transgene generates functional polycystin-1 in mice and is associated with a cystic phenotype
Pritchard, L. E. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.18.2617 · Cited by 162 · see citing works
Calcium pumps: structural basis for and mechanism of calcium transmembrane transport
Carafoli, E. (2000) · Current Opinion in Chemical Biology · doi:10.1016/s1367-5931(99)00069-1 · Cited by 160 · see citing works
Calcium - a central regulator of keratinocyte differentiation in health and disease
Elsholz, F., Harteneck, C., Muller, W., & Friedland, K. (2014) · European Journal of Dermatology · doi:10.1684/ejd.2014.2452 · Cited by 157 · see citing works
Mosaicism for ATP2A2 Mutations Causes Segmental Darier's Disease
Sakuntabhai, A., Dhitavat, J., Hovnanian, A., & BURGE, S. M. (2000) · Journal of Investigative Dermatology · doi:10.1046/j.1523-1747.2000.00182.x · Cited by 158 · see citing works
Self-citation
Human Keratinocyte ATP2C1 Localizes to the Golgi and Controls Golgi Ca2+ Stores
Behne, M. J., Tu, C., Aronchik, I., Epstein, E. H., Bench, G., Bikle, D. D., Pozzan, T., & Mauro, T. M. (2003) · Journal of Investigative Dermatology · doi:10.1046/j.1523-1747.2003.12528.x · Cited by 153 · see citing works
ATP2A2 Mutations in Darier's Disease and Their Relationship to Neuropsychiatric Phenotypes
Jacobsen, N., Lyons, I., Hoogendoorn, B., BURGE, S. M., Kwok, P., O’Donovan, M. C., Craddock, N. J., & Owen, M. J. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.9.1631 · Cited by 149 · see citing works
Self-citation
Ca2+ signalling in the Golgi apparatus
Pizzo, P., Lissandron, V., Capitanio, P., & Pozzan, T. (2011) · Cell Calcium · doi:10.1016/j.ceca.2011.01.006 · Cited by 148 · see citing works
Dissection of the Functional Differences between Sarco(endo)plasmic Reticulum Ca2+-ATPase (SERCA) 1 and 2 Isoforms and Characterization of Darier Disease (SERCA2) Mutants by Steady-state and Transient Kinetic Analyses
Dode, L., Andersen, J. P., Leslie, N., Dhitavat, J., Vilsen, B., & Hovnanian, A. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m306784200 · Cited by 148 · see citing works
Self-citation
Complementary Genomic Screens Identify SERCA as a Therapeutic Target in NOTCH1 Mutated Cancer
Roti, G., Carlton, A. L., Ross, K. N., Markstein, M., Pajcini, K. V., Su, A. H., Perrimon, N., Pear, W. S., Kung, A. L., Blacklow, S. C., et al. (2013) · Cancer Cell · doi:10.1016/j.ccr.2013.01.015 · Cited by 146 · see citing works
Cholinergic control of epidermal cohesion
Grando, S. A. (2006) · Experimental Dermatology · doi:10.1111/j.0906-6705.2006.00410.x · Cited by 146 · see citing works
Identical but not the same: The value of discordant monozygotic twins in genetic research
Zwijnenburg, P. J. G., Meijers-Heijboer, H. E. J., & Boomsma, D. I. (2010) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31091 · Cited by 142 · see citing works
ATP2A2 Mutations in Darier's Disease: Variant Cutaneous Phenotypes Are Associated with Missense Mutations, But Neuropsychiatry Features Are Independent of Mutation Class
Ruiz‐Pérez, V. L., Carter, S. A., Healy, E., Todd, C., Rees, J. L., Steijlen, P. M., Carmichael, A. J., Lewis, H., Hohl, D., Itin, P. H., et al. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.9.1621 · Cited by 142 · see citing works
Self-citation
Epidermal desquamation
Milstone, L. M. (2004) · Journal of Dermatological Science · doi:10.1016/j.jdermsci.2004.05.004 · Cited by 140 · see citing works
Molecular genetics of bipolar disorder
Craddock, N. J., & Jones, I. R. (2001) · The British Journal of Psychiatry · doi:10.1192/bjp.178.41.s128 · Cited by 140 · see citing works
Self-citation
The Ca2+/Mn2+ pumps in the Golgi apparatus
Baelen, K. V., Dode, L., Vanoevelen, J. M., Callewaert, G., SMEDT, H. D., Missiaen, L., Parys, J. B., Raeymaekers, L., & Wuytack, F. (2004) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2004.08.018 · Cited by 137 · see citing works
The Secretory Pathway Ca2+/Mn2+-ATPase 2 Is a Golgi-localized Pump with High Affinity for Ca2+ Ions
Vanoevelen, J. M., Dode, L., Baelen, K. V., Fairclough, R. J., Missiaen, L., Raeymaekers, L., & Wuytack, F. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m501026200 · Cited by 136 · see citing works
Calcium pumps and keratinocytes: lessons from Darier's disease and Hailey-Hailey disease
Dhitavat, J., Fairclough, R. J., Hovnanian, A., & BURGE, S. M. (2004) · British Journal of Dermatology · doi:10.1111/j.1365-2133.2004.05904.x · Cited by 132 · see citing works
Self-citation
Serca pumps and human diseases
Hovnanian, A. (2007) · Springer eBooks · doi:10.1007/978-1-4020-6191-2_12 · Cited by 131 · see citing works
Self-citation
Pemphigus Vulgaris Antibody Identifies Pemphaxin
Nguyen, V. T., Ndoye, A., & Grando, S. A. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.m003174200 · Cited by 131 · see citing works
Genetic or epigenetic difference causing discordance between monozygotic twins as a clue to molecular basis of mental disorders
Kato, T., Iwamoto, K., Kakiuchi, C., Kuratomi, G., & Okazaki, Y. (2005) · Molecular Psychiatry · doi:10.1038/sj.mp.4001662 · Cited by 130 · see citing works
A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood
Bassi, M. T., Bresolin, N., Tonelli, A., Nazos, K., Crippa, F., Baschirotto, C., Zucca, C., Bersano, A., Dolcetta, D., Boneschi, F. M., et al. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2003.017863 · Cited by 129 · see citing works
Influx of Calcium and Chloride Ions into Epidermal Keratinocytes Regulates Exocytosis of Epidermal Lamellar Bodies and Skin Permeability Barrier Homeostasis
Denda, M., Fuziwara, S., & Inoue, K. (2003) · Journal of Investigative Dermatology · doi:10.1046/j.1523-1747.2003.12367.x · Cited by 127 · see citing works
Darier disease
Takagi, A., Kamijo, M., & Ikeda, S. (2016) · The Journal of Dermatology · doi:10.1111/1346-8138.13230 · Cited by 126 · see citing works
Autoimmunity to Keratinocyte Acetylcholine Receptors in Pemphigus
Grando, S. A. (2000) · Dermatology · doi:10.1159/000051540 · Cited by 125 · see citing works
Hypermethylation of serotonin transporter gene in bipolar disorder detected by epigenome analysis of discordant monozygotic twins
Sugawara, H., Iwamoto, K., Bundo, M., Ueda, J., Miyauchi, T., Komori, A., Kazuno, A., Adati, N., Kusumi, I., Okazaki, Y., et al. (2011) · Translational Psychiatry · doi:10.1038/tp.2011.26 · Cited by 121 · see citing works
Loss of the Atp2c1 Secretory Pathway Ca2+-ATPase (SPCA1) in Mice Causes Golgi Stress, Apoptosis, and Midgestational Death in Homozygous Embryos and Squamous Cell Tumors in Adult Heterozygotes
Okunade, G. W., Miller, M. L., Azhar, M., Andringa, A., Sanford, L. P., Doetschman, T., Prasad, V., & Shull, G. E. (2007) · Journal of Biological Chemistry · doi:10.1074/jbc.m703029200 · Cited by 121 · see citing works
The endoplasmic reticulum and junctional membrane communication during calcium signaling
Lam, A. K. M., & Galione, A. (2013) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2013.06.004 · Cited by 117 · see citing works
Acrokeratosis Verruciformis of Hopf is Caused by Mutation in ATP2A2: Evidence That it is Allelic to Darier's Disease
Dhitavat, J., Dode, L., Leslie, N., Sakuntabhai, A., Macfarlane, S., MacSWEEN, R. M., SAIHAN, E. M., & Hovnanian, A. (2003) · Journal of Investigative Dermatology · doi:10.1046/j.1523-1747.2003.t01-1-12045.x · Cited by 119 · see citing works
Self-citation
The gene gun: current applications in cutaneous gene therapy
Lin, M. T. S., Pulkkinen, L., Uitto, J., & Yoon, K. (2000) · International Journal of Dermatology · doi:10.1046/j.1365-4362.2000.00925.x · Cited by 118 · see citing works
Darier disease – novel mutations in ATP2A2 and genotype–phenotype correlation
Ringpfeil, F., Raus, A., DiGiovanna, J. J., Korge, B. P., Harth, W., Mazzanti, C., Uitto, J., Bale, S. J., & Richard, G. (2001) · Experimental Dermatology · doi:10.1034/j.1600-0625.2001.100103.x · Cited by 118 · see citing works
Calcium in the Golgi apparatus
Missiaen, L., Dode, L., Vanoevelen, J. M., Raeymaekers, L., & Wuytack, F. (2006) · Cell Calcium · doi:10.1016/j.ceca.2006.11.001 · Cited by 116 · see citing works
Squamous Cell Tumors in Mice Heterozygous for a Null Allele of Atp2a2, Encoding the Sarco(endo)plasmic Reticulum Ca2+-ATPase Isoform 2 Ca2+Pump
Liu, L. H., Boivin, G. P., Prasad, V., Periasamy, M., & Shull, G. E. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.c100275200 · Cited by 114 · see citing works
Genetic pathways in disorders of epidermal differentiation
Lopez-Pajares, V., Yan, K., Zarnegar, B. J., Jameson, K. L., & Khavari, P. A. (2012) · Trends in Genetics · doi:10.1016/j.tig.2012.10.005 · Cited by 113 · see citing works
Effects of PMCA and SERCA pump overexpression on the kinetics of cell Ca2+ signalling
Brini, M., Bano, D., Manni, S., Rizzuto, R., & Carafoli, E. (2000) · The EMBO Journal · doi:10.1093/emboj/19.18.4926 · Cited by 112 · see citing works
The type 4 subfamily of P-type ATPases, putative aminophospholipid translocases with a role in human disease
Paulusma, C. C., & Elferink, R. P. J. O. (2005) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2005.04.006 · Cited by 106 · see citing works
Intracellular Ca 2+ signaling and store-operated Ca 2+ entry are required in Drosophila neurons for flight
Venkiteswaran, G., & Hasan, G. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0902982106 · Cited by 106 · see citing works
Timing of De Novo Mutagenesis — A Twin Study of Sodium-Channel Mutations
Vadlamudi, L., Dibbens, L. M., Lawrence, K. M., Iona, X., McMahon, J. M., Murrell, W. G., Mackay‐Sim, A., Scheffer, I. E., & Berkovic, S. F. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa0910752 · Cited by 105 · see citing works
Pemphigus Vulgaris IgG and Methylprednisolone Exhibit Reciprocal Effects on Keratinocytes
Nguyen, V. T., Arredondo, J., Chernyavsky, A. I., Kitajima, Y., Pittelkow, M. R., & Grando, S. A. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m309000200 · Cited by 105 · see citing works
SPCA1 pumps and Hailey–Hailey disease
Missiaen, L., Raeymaekers, L., Dode, L., Vanoevelen, J. M., Baelen, K. V., Parys, J. B., Callewaert, G., SMEDT, H. D., Segaert, S., & Wuytack, F. (2004) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2004.07.128 · Cited by 104 · see citing works
Sarcoendoplasmic reticulum Ca2+ ATPase type 2 downregulated in human oral squamous cell carcinoma
Endo, Y., Uzawa, K., Mochida, Y., Shiiba, M., Bukawa, H., Yokoe, H., & Tanzawa, H. (2004) · International Journal of Cancer · doi:10.1002/ijc.20118 · Cited by 103 · see citing works
Identification of a new SERCA2 splice variant regulated during monocytic differentiation
Gélébart, P., Martin, V., Enouf, J., & Papp, B. (2003) · Biochemical and Biophysical Research Communications · doi:10.1016/s0006-291x(03)00405-4 · Cited by 102 · see citing works
Functional expression of heterologous proteins in yeast: insights into Ca2+ signaling and Ca2+-transporting ATPases
Ton, V., & Rao, R. (2004) · American Journal of Physiology-Cell Physiology · doi:10.1152/ajpcell.00135.2004 · Cited by 102 · see citing works
Redox-assisted regulation of Ca 2+ homeostasis in the endoplasmic reticulum by disulfide reductase ERdj5
Ushioda, R., Miyamoto, A., Inoue, M., Watanabe, S. P., Okumura, M., Maegawa, K.-I., Uegaki, K., Fujii, S., Fukuda, Y., Umitsu, M., et al. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1605818113 · Cited by 101 · see citing works
The calcium-signalling saga: tap water and protein crystals
Carafoli, E. (2003) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm1073 · Cited by 101 · see citing works
Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma
Hunt, D., Rickman, L., Whittock, N. V., Eady, R., Šimrak, D., Dopping-Hepenstal, P., Stevens, H. P., Armstrong, D., Hennies, H.-C., Küster, W., et al. (2001) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200605 · Cited by 101 · see citing works
Three Novel Sarco/endoplasmic Reticulum Ca2+-ATPase (SERCA) 3 Isoforms
Martin, V., Bredoux, R., Corvazier, E., van Gorp, R. M. A., Kovàcs, T., Gélébart, P., & Enouf, J. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m202011200 · Cited by 100 · see citing works
The value of twins in epigenetic epidemiology.
Bell, J., & Saffery, R. (2012) · International Journal of Epidemiology · doi:10.1093/ije/dyr179 · Cited by 96 · see citing works
Regulators of Ca2+ Signaling in Mast Cells: Potential Targets for Treatment of Mast Cell-Related Diseases?
Ma, H., & Beaven, M. A. (2011) · Advances in experimental medicine and biology · doi:10.1007/978-1-4419-9533-9_5 · Cited by 98 · see citing works
Darier disease : A disease model of impaired calcium homeostasis in the skin
Savignac, M., Edir, A., Simon, M., & Hovnanian, A. (2010) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2010.12.006 · Cited by 98 · see citing works
Self-citation
When calcium goes wrong: genetic alterations of a ubiquitous signaling route
Rizzuto, R., & Pozzan, T. (2003) · Nature Genetics · doi:10.1038/ng0603-135 · Cited by 98 · see citing works
P2X Purinergic Receptor Antagonist Accelerates SkinBarrier Repair and Prevents Epidermal Hyperplasia Inducedby Skin Barrier Disruption
Denda, M., Inoue, K., Fuziwara, S., & Denda, S. (2002) · Journal of Investigative Dermatology · doi:10.1046/j.1523-1747.2002.19505.x · Cited by 96 · see citing works
Ca2+ homeostasis and structural and functional remodelling of airway smooth muscle in asthma
Mahn, K., Ojo, O. O., Chadwick, G., Aaronson, P. I., Ward, J. P. T., & Lee, T. H. (2010) · Thorax · doi:10.1136/thx.2009.129296 · Cited by 96 · see citing works
Serca1 Truncated Proteins Unable to Pump Calcium Reduce the Endoplasmic Reticulum Calcium Concentration and Induce Apoptosis
Chami, M., Gözüaçık, D., Lagorce, D., Brini, M., Falson, P., Peaucellier, G., Pinton, P., Lecoeur, H., Gougeon, M. L., le Maire, M., et al. (2001) · The Journal of Cell Biology · doi:10.1083/jcb.153.6.1301 · Cited by 94 · see citing works
Regulation of SERCA Ca2+ pump expression by cytoplasmic [Ca2+] in vascular smooth muscle cells
Wu, K., Bungard, D., & Lytton, J. (2001) · American Journal of Physiology-Cell Physiology · doi:10.1152/ajpcell.2001.280.4.c843 · Cited by 94 · see citing works
Hailey-Hailey Disease: Molecular and Clinical Characterization of Novel Mutations in the ATP2C1 Gene
Dobson‐Stone, C., Fairclough, R. J., Dunne, E., Brown, J. H., Monaco, A. P., Hovnanian, A., Dissanayake, M., Munro, C. S., Strachan, T., BURGE, S. M., et al. (2002) · Journal of Investigative Dermatology · doi:10.1046/j.0022-202x.2001.01675.x · Cited by 93 · see citing works
Self-citation
Mechanisms of desmosome assembly and disassembly
Kitajima, Y. (2002) · Clinical and Experimental Dermatology · doi:10.1046/j.1365-2230.2002.01116.x · Cited by 91 · see citing works
Genotyping Single-Nucleotide Polymorphisms by the Invader Assay with Dual-Color Fluorescence Polarization Detection
Hsu, T. M., Law, S. M., Duan, S., Neri, B. P., & Kwok, P. (2001) · Clinical Chemistry · doi:10.1093/clinchem/47.8.1373 · Cited by 90 · see citing works
Intracellular Ca 2+ - and Mn 2+ -Transport ATPases
Vangheluwe, P., Sepúlveda, M. R., Missiaen, L., Raeymaekers, L., Wuytack, F., & Vanoevelen, J. M. (2009) · Chemical Reviews · doi:10.1021/cr900013m · Cited by 89 · see citing works
NMDA-Type Glutamate Receptor Is Associated with Cutaneous Barrier Homeostasis
Fuziwara, S., Inoue, K., & Denda, M. (2003) · Journal of Investigative Dermatology · doi:10.1046/j.1523-1747.2003.12238.x · Cited by 89 · see citing works
Sarco(endo)plasmic reticulum calcium pumps: recent advances in our understanding of structure/function and biology (Review)
East, J. M. (2000) · Molecular Membrane Biology · doi:10.1080/09687680010009646 · Cited by 89 · see citing works
SERCA2 Deficiency Impairs Pancreatic β-Cell Function in Response to Diet-Induced Obesity
Tong, X., Kono, T., Anderson‐Baucum, E. K., Yamamoto, W. R., Gilon, P., Lebeche, D., Day, R. N., Shull, G. E., & Evans‐Molina, C. (2016) · Diabetes · doi:10.2337/db16-0084 · Cited by 88 · see citing works
Structural basis for the high Ca 2+ affinity of the ubiquitous SERCA2b Ca 2+ pump
Vandecaetsbeek, I., Trekels, M., Maeyer, M. D., Ceulemans, H., Lescrinier, E., Raeymaekers, L., Wuytack, F., & Vangheluwe, P. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0906797106 · Cited by 88 · see citing works
Epidermal TRPM8 channel isoform controls the balance between keratinocyte proliferation and differentiation in a cold-dependent manner
Bidaux, G., Borowiec, A., Gordienko, D. V., Beck, B., Shapovalov, G., Lemonnier, L., Flourakis, M., Vandenberghe, M., Slomianny, C., Dewailly, E., et al. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1423357112 · Cited by 87 · see citing works

Novel Point Mutations of the ATP2A2 Gene in Two Chinese Families with Darier Disease
Yang, Y., Li, G., Bu, D., & Zhu, X. (2001) · Journal of Investigative Dermatology · doi:10.1046/j.1523-1747.2001.01279-10.x · Cited by 28 · see citing works
Three novel mutations in the ATP2A2 gene in Hungarian families with Darier's disease, including a novel splice site generating intronic nucleotide change
Rácz, E., Csikós, M., Benkő, R., Kornseé, Z., & Kárpáti, S. (2005) · Journal of Dermatological Science · doi:10.1016/j.jdermsci.2005.03.005 · Cited by 15 · see citing works
Identification of two novel Darier disease-associated mutations in the ATP2A2 gene
Zheng, L., JIANG, H., MEI, Q., & Chen, B. (2015) · Molecular Medicine Reports · doi:10.3892/mmr.2015.3605 · Cited by 5 · see citing works
Two novel missense mutations ofATP2A2in two Chinese patients with sporadic Darier Disease
Liang, Y., Zhang, Q. G., & Liu, Q. X. (2014) · Clinical and Experimental Dermatology · doi:10.1111/ced.12452 · Cited by 4 · see citing works
Mutation analysis of the ATP2A2 gene in Taiwanese patients with Darier's disease
Chao, S.-C., Yang, M.-H., & Lee, J. Y. (2002) · British Journal of Dermatology · doi:10.1046/j.1365-2133.2002.04786.x · Cited by 26 · see citing works

Authors: Sakuntabhai, A., Ruiz-Perez, V., Carter, S., Jacobsen, N., Burge, S., Monk, S., Smith, M., Munro, C. S., O'Donovan, M., Craddock, N., Kucherlapati, R., Rees, J. L., Owen, M., Lathrop, G. M., Monaco, A. P., Strachan, T., & Hovnanian, A.
Affiliations: Centre for Human Genetics (GB)
Newcastle University (GB)
Cardiff University (GB)
Churchill Hospital (GB)
Southern General Hospital (GB)
University of Birmingham (GB)
Albert Einstein College of Medicine (US)
Corresponding author: Strachan, Tom
Hovnanian, Alain
ORCID: Sakuntabhai, Anavaj
Smith, Melanie
Craddock, Nick
Monaco, Anthony P.
Hovnanian, Alain
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 1999-03
Volume: 21
Issue: 3
Pages: 271-277
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/6784
OpenAlex: W2161549748
Cited by: 740
References: 42
Citations by year: 2026: 21 · 2025: 23 · 2024: 28 · 2023: 20 · 2022: 23 · 2021: 18 · 2020: 17 · 2019: 14 · 2018: 25 · 2017: 21 · 2016: 37 · 2015: 19 · 2014: 30 · 2013: 22 · 2012: 22
FWCI: 21.12
Type: journal article
Language: en
Open access: green
doi.org
Licence: www.springer.com/tdm (tdm)
Locations: Nature Genetics (publishedVersion)
PubMed (publishedVersion)
ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
Newcastle University ePrints (Newcastle Univesity)
Funders: Wellcome Trust
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Skin and Cellular Biology Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: Darier disease, SERCA2, calcium pump, acantholysis, keratinocytes, epidermal adhesion, keratinization, missense mutations, splice site mutation, frameshift deletion, calcium signaling, epidermal differentiation
MeSH terms: Calcium-Transporting ATPases, Female, Gene Expression Regulation, Humans, Isoenzymes, Darier Disease, Male, Molecular Sequence Data, Mutation, Keratinocytes

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease

Abstract

Integrity signals

Claims the paper makes

Claims other papers make about this one

Cites

Cited by

Related

Record

About these checks