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·1999·Nature Genetics
DOI 10.1038/6784
Cited by (738)
Items 601–700 of 738
- Sporadic case of Darier disease caused by a novel splice-site mutation in the ATP2A2 geneSyuichiro YASUNO, Y. Miyoshi, Nobuyuki Asano, Tomoko Okita, Michiya Yamaguchi, N. Shimomura, K. Kashiwagi, Yutaka Shimomura · 2018 · Clinical and Experimental Dermatology
- [Genetics and dermatology].Fanny Morice‐Picard · 2019 · PubMed
- Oral warty dyskeratoma: An unusual presentationHamid Reza Ghasemi Basir, Pedram Alirezaei, Baharereh Ebrahimi, Sina Khanali · 2020 · Dermatology Reports
- Umbilicated Keratotic Papule on the ScalpKazuki Mitsuru Matsuda, Haruko Nishio, Haruko Hino, Shinji Kagami · 2020 · Cutis
- Hereditary and Congenital Nail DisordersSmail Hadj-Rabia, LENNART JUHLIN, Robert Baran · 2012 · Blackwell Publishing Ltd eBooks
- Dermatologic Diseases2009 · Elsevier eBooks
- Les troubles mentaux de la maladie de DarierFlorence Bour, Emmanuel Kosadinos, E. Hache · 2006 · Annales Médico-psychologiques revue psychiatrique
- Maladie de DarierJ.-L. Estival, P. Combemale, M.C. Marcilly · 2006 · EMC - Dermatologie
- Letter to the Editor Severe Darier’s disease patient with mutation of ATP2A2LI Cheng-rang, Yu Zhang, Wei-Xue Jia, Xue-Min Xiao, Ning-Yan Gu, Nan Sheng, Qiuxia Mao, Xu Yao · 2014 · Advances in Dermatology and Allergology
- Abamectin Induces Cardiac Toxicity in Early Zebrafish EmbryosWenxiao Du, Xuedong Wang, Mingyong Wang, Chao Liu · 2022 · SSRN Electronic Journal
- Targeting of Th17-related cytokines in patients with Darier DiseaseMonika Ettinger, Teresa Burner, Anshu Kumar Sharma, Yun‐Tsan Chang, Angelika Lackner, Pacôme Prompsy, Isabella Pospischil, Judith Traxler, Gerald Wahl, Sabine Altrichter et al. · 2023 · medRxiv
- Acquired Disorders of the Nails and Nail UnitMarcel C. Pasch, Bertrand Richert, Matilde Iorizzo · 2024
- Failed Metabolic Adaptation to Stress Underlies Pathogenesis in a Heterozygous Genetic DisorderRobert Harmon, Erin F. McCarthy, Annette Krol, Jonas Braun, Aashutosh Shetti, Lisa Marie Godsel, Ziyou Ren, Bethany E. Perez White, Samuel Edward Weinberg, Cory L. Simpson et al. · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
- The endoplasmic reticulum autophagy receptor TEX264 drives epidermal differentiation and is dysregulated in Darier diseaseChristopher J. Johnson, Afua Tiwaa, Arti Parihar, Edwin Antonio, Brooke D. Lorenz, Reeteka Kudallur, Aaron Ramonett, Anthony Coon, Mrinal K. Sarkar, Johann Eli Gudjonsson et al. · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
- Hailey-Hailey disease models identify synergistic therapeutic effects of MEK and ROCK inhibitionJessica Ayers, Arti Parihar, Afua Tiwaa, Akshata Aravind, Michael C Martin, Kuga Pence, Crystal J Tam, Nizhoni Sutter, Kristen Skruber, Mrinal K. Sarkar et al. · 2026 · bioRxiv (Cold Spring Harbor Laboratory)
- Darier’s DiseaseMarimar Sáez‐de‐Ocariz, Luz Orozco‐Covarrubias, Carola Durán‐McKinster, Ramón Ruiz‐Maldonado · 2008 · Springer eBooks
- Chronic papules on the back and extremities.Amor Khachemoune, Benjamin Lockshin · 2004 · PubMed
- ROLE OF SECOND MESSENGER SIGNALING PATHWAYS IN THE REGULATION OF SARCOPLASMIC RETICULUM CALCIUM-HANDLING PROPERTIES IN THE LEFT VENTRICLE AND SKELETAL MUSCLES OF DIFFERENT FIBRE TYPE COMPOSITIONTodd Ashley Duhamel · 2007 · UWSpace (University of Waterloo)
- Calcium ATPases Genes and Cell TransformationPatrizia Paterlini-Bréchot, Mounia Chami, Devrim Gözüaçık · 2000 · Springer eBooks
- Acrokeratoses verruciformis of HOPF (AKV), Genodermatoses, PLE.M Ramesh, Neelakandan Ramya, M G Gopal, Sharath Kumar B.C, Nandini A.S · 2013
- Perianal lokalisierte KrankheitsbilderErnst Stein · 1998 · Springer eBooks
- Ion Pumps and Molecular Motors: P‐, F‐, and V‐type ATPasesSarah Bond, Daniel J. Cipriano, Michael D. Forgac · 2009
- Gene table: Monogenic determined neurocutaneous disordersSergiusz Jóźwiak, Katarzyna Kotulska · 2010 · European Journal of Paediatric Neurology
- In This Issue: Genotype-Phenotype Correlations: Lessons Learned from ‘Milder’ GenodermatosesAmy S. Paller · 2003 · Journal of Investigative Dermatology
- Heredity and Environment in Dermatological DiseasesLowell A. Goldsmith · 2004 · The Journal of Dermatology
- Genética molecular en dermatologíaO. Dereure · 2007 · EMC - Dermatología
- CA35 - Maladie de Darier révélée par une hypomélanose périfolliculaireF. El Sayed, Rola Al Dhaybi, Alfred Ammoury, Luciano Foggia, Alain Hovnanian · 2007 · Annales de Dermatologie et de Vénéréologie
- Molecular Psychiatry Meeting, February 2003, Lake Louise, CanadaDanielle M. Dick, John I. Nürnberger · 2004 · Psychiatric Genetics
- BOOK REVIEW: Intracellular Calcium--They Think It's All Over! It Isn't Quite Yet!A review of the book Calcium as a Cellular Regulator Edited by Ernesto Carafoli and Claude Klee Oxford University Press, New York, 1999. 658 pp. $150.00 U.S. £105.00 U.K. ISBN 0-19-509421-2.Anthony K. Campbell · 1999 · Science s STKE
- Enfermedad de DarierJ.-L. Estival, M.C. Marcilly, P. Combemale · 2003 · EMC - Dermatología
- Aparición de lesiones acneiformes crónicas compatibles con enfermedad de Darier en el inicio de un lupus eritematoso sistémicoAntonio Martorell, Eduardo Nagore, Carlos Guillén Barona · 2009 · Piel
- Massive pulmonary embolism without haemodynamic compromise caused by the presence of a patent foramen ovaleThomas Keeble, J Lewis, K M Ho · 2005 · Heart
- Malignité au cours de la maladie de DarierRaida Ben Salah, Abderrahmen Masmoudi, F. Maazoun, Sonia Boudaya, Hamida Turki · 2011 · La Presse Médicale
- Genetics of Corneal Disease for the Ocular Surface ClinicianStacy A. Sjoberg · 2005 · The Ocular Surface
- Inherited Keratinocyte Diseases (Ichthyosis and Related Disorders)Akemi Ishida‐Yamamoto · 2010 · Springer eBooks
- Genetic defects of calcium and potassium signaling in inherited ventricular arrhythmiasPäivi H. Laitinen · 2004 · Työväentutkimus Vuosikirja
- Skin barrier dysfunction in common genetic disordersHuijia Chen · 2011 · Discovery Research Portal (University of Dundee)
- Lesiones intertriginosas en un varón de 50 años de edadMaría Pilar Sánchez Salas · 2004 · Piel
- The Molecular Basis of Keratinizing DisordersMotomu Manabe · 2004
- Calcium signaling in epithelium : special focus on Hailey-Hailey and Darier diseases, neurofibromatosis 1 and transitional cell carcinomaPekka Leinonen · 2008
- Ca2+-ATPase Genes and Related DiseasesRajini Rao, Giuseppe Inesi · 2003 · Springer eBooks
- Nicht entzündliche VeränderungenMichael Tronnier · 2008 · Springer eBooks
- Regulation of epidermal tight junctions by calcium ATPases and p38Laura Raiko · 2013 · UTUPub (University of Turku)
- Changes in the expression of sarcoendoplasmic reticulum Ca2+ ATPase type 2 in lower gingival squamous cell carcinomasMasashi Shiiba, Yosuke Endo, Hisako Uesugi, Kenshi Kawasaki, Kanae Ono, Akiyuki Murano, Yukio HAYASHI, Katsunori Ogawara, Katsuhiro Uzawa, Hideki Tanzawa · 2005 · Japanese Journal of Oral & Maxillofacial Surgery
- ACROKERATOSES VERRUCIFORMIS OF HOPF: AN ASSOCIATION WITH POLYMORPHIC LIGHT ERUPTIONM Ramesh, Ramya N, M G Gopal, Sharath Kumar B.C, Nandini A.S · 2013 · Journal of Evolution of Medical and Dental Sciences
- Research history for keratinizing disorders at Department of Dermatology, Juntendo University School of MedicineShigaku Ikeda · 2006 · Juntendō Igaku/Juntendo igaku
- Effects of Cyclooxygenase-1 or -2 Inhibitors on Expressions of ATP2A2 and ATP2C1 in Cultured Normal Human Keratinocytes亮平 杉村, Nobuyasu Mayuzumi, Shigaku Ikeda · 2010 · Juntendō Igaku/Juntendo igaku
- Role of ATPases in Disease ProcessesSwatilekha Ghosh, Parimal Chandra Sen · 2015 · Springer eBooks
- Bipolar affective disorder: advances in genetics and mood-stabilising medicationDaniel C. White, Brendan D. Kelly · 2006 · Irish Journal of Psychological Medicine
- Génétique moléculaire en dermatologieO. Dereure · 2006 · EMC - Dermatologie
- Case Presentation Segmental lesions along blaschkos lines in an elderly man Fátima Tous Romero MD, Sara Burillo Martínez MD, Carlos Morales-Raya MD, Vanessa Gargallo-Moneva,Lidia Maroñas‐Jiménez, Fátima Tous‐Romero, Avenida de Cordoba · 2016
- Enfermedad de Darier - White clásica y lineal Darier white´ s disease classic and linealC B Koch · 2009 · DOAJ (DOAJ: Directory of Open Access Journals)
- Génétique en dermatologieF. Morice-Picard · 2026 · Annales de Dermatologie et de Vénéréologie - FMC
- CNV Concordance in 1,097 MZ Twin PairsAbdel Abdellaoui, Hudziak, Jim J., Brooks, Andrew, Jouke‐Jan Hottenga, Eco J. C. de Geus, Ehli, Erik A., Patrick F. Sullivan, Van Beijsterveldt, Toos, Gonneke A. H. M. Willemsen, Hamdi Mbarek et al. · 2021 · Carolina Digital Repository (University of North Carolina at Chapel Hill)
- Troubles intrinsèques de l'adhésion interkératinocytaireJ.‐H. Saurat, Dan M. Lipsker, Luc Thomas, Luca Borradori, Jean Marie Lachapelle · 2017 · Elsevier eBooks
- Altered Distribution of Calcium in Facial Epidermis of Aged AdultsKanazawa-ku Fukuura · 2003
- The Focal Nature of Darier's Disease Lesions: Calcium Pumps, Stress, andRebecca Byrne · 2006
- Genética en dermatologíaFanny Morice‐Picard · 2017 · EMC - Dermatología
- Endoplasmic reticulum calcium dynamics and insulin secretion in pancreatic β cellsWataru R. Yamamoto · 2017 · IUScholarWorks (Indiana University)
- Studies on mendelian disorders of cornificationNellen · 2017
- A Case of Unilateral Darier's DiseaseTomoyo ISOTANI, Nanae Kimura, Akari Shigyou, Hiromaro Kiryu, Masutaka Furue · 2018 · The Nishinihon Journal of Dermatology
- Transporter Proteins2012 · Molecular Pharmacology
- Hypopigmented Macules With Onychodystrophy: AnswerMason Henehan, Wallace R. Nozile, María Isabel Longo, Addie Walker, Kiran Motaparthi · 2019 · American Journal of Dermatopathology
- Inherited skin diseaseThiviyani Maruthappu, David P. Kelsell · 2020
- A case report of Lithium induced Dariers diseaseDinesh Kumar Mk, Thekke Vakkethummil Aswathi, Shima Kannadas · 2020 · Kerala Journal of Psychiatry
- 46/w mit juckenden Hautveränderungen in den seborrhoischen Arealen: Vorbereitung auf die Facharztprüfung: Folge 7Danielle Franziska Boehmer, Kilian Eyerich · 2018 · Der Hautarzt
- Familial case of Darier’s disease: A rare genodermatosisMohammad Kamrul Ahsan, M Moniruzzaman Khan, Mir Nazrul Islam · 2020 · Bangladesh Critical Care Journal
- Developmental and Congenital ConditionsSook‐Bin Woo · 2012 · Elsevier eBooks
- Thick, adherent, asbestos-like and overlapping scales encircling the tufts of hair shafts in a 13-year-old girlVikramK Mahajan, Prabal Kumar, Bhumika Chowdhary · 2020 · Indian Dermatology Online Journal
- Segmental Darier’s disease, a rare disorder of keratinizationAbeer M Ilyas, Ujwala M. Maheshwari · 2021 · MGM Journal of Medical Sciences
- Darier’s Disease – A Case ReportS Srikanth, Jilla Rajitha · 2021 · Scholars Journal of Medical Case Reports
- Darier's disease and Schizophrenia- A case reportRahul Thovarayi, Indu V. Nair, Kiran Sooraj Thirukonda Jegadeesh Babu · 2021 · Kerala Journal of Psychiatry
- Papular eruption in an adolescent with a mood disorderMeredith V. Sight, McKenzi Standard, Sahibu Sultan M. Habeebu, Kimberly A. Horii · 2021 · Pediatric Dermatology
- Basic Principles of Genetics and Gene TherapyLiv Kraemer, Angela M. Christiano · 2010 · Springer eBooks
- RANE KOD DERMATOLOŠKIH BOLESTISuzana Ožanić Bulić, Lena Kotrulja, Ines Sjerobabski Masnec · 2012 · Hrčak Portal of scientific journals of Croatia (University Computing Centre)
- Bibliography2014 · Wiley eBooks
- Vesiculobullous DiseasesThuy L. Phung, Teresa S. Wright, Crystal Y. Pourciau, Bruce Robert Smoller · 2017 · Springer eBooks
- Epilogue2000 · CRC Press eBooks
- Perianal lokalisierte KrankheitsbilderErnst Stein · 2003 · Springer eBooks
- Hereditary and Congenital Nail DisordersSmail Hadj-Rabia, Rudolf Happle, Bianca Maria Piraccini, Robert Baran · 2018 · Wiley eBooks
- Erbliche HauterkrankungenWolfgang Küster · 2000 · Springer eBooks
- The SkinFraser G. Charlton · 2015 · Springer eBooks
- Hereditäre Verhornungsstörungen und epidermale FehlbildungenDieter Metze, Heiko Traupe · 2015 · Springer eBooks
- Calcium PumpsDonata Branca, Marisa Brini, Ernesto Carafoli · 2002 · Wiley Encyclopedia of Molecular Medicine
- Darier DiseaseDieter Metze · 2009 · Springer eBooks
- Blistering diseasesWhitney A. High · 2009 · Elsevier eBooks
- GenodermatosesTammie Ferringer · 2009 · Elsevier eBooks
- BOOK REVIEW: Intracellular Calcium--They Think It's All Over! It Isn't Quite Yet!Anthony K. Campbell · 1999 · Science Signaling
- Darier Disease2017 · Elsevier eBooks
- Darier-White Disease with Sensorineural Hearing Loss – A Case ReportEshan Blessing Henshaw, Henry Ekpenyong, L. E. Ekafor · 2022 · Rwanda medical journal
- DESMOSOMES IN ORAL DISEASES – A REVIEWBisena Jayashree · 2022 · International Journal of Histopathological Interpretation
- Darier DiseaseFederico Bardazzi, Lidia Sacchelli · 2023 · Springer eBooks
- First report of ATP2A2 somatic mosaicism occurring during embryogenesis in transient acantholytic dermatosisEmi Hiromatsu, Toshifumi Abe, Kwesi Teye, Hiroshi Koga, Norito Ishii, Takahiro Hamada, Takekuni Nakama · 2024 · JEADV Clinical Practice
- Genetic Blistering DiseasesJohn Alexander McGrath · 2024 · Wiley eBooks
- Inherited Acantholytic DisordersMozheh Zamiri · 2024
- Darier’s DiseaseAbdullah Demirbaş, Dilek Bayramgürler, Gözde Ulutaş Demirbaş · 2024 · Springer eBooks
- ФЕНТИКОНАЗОЛДЫ ҚОЛДАНУДЫҢ ТИІМДІЛІГІ ТҮРЛІ ТІРЛЕРДІҢ ЕМДЕУЛЕРІНДЕС.А. Исаков, А.А. Жазылбекова · 2024 · Voprosy dermatologii i venerologii/Dermatologiâ ža̋ne veneralogiâ ma̋selelerì
- 2023 ЖЫЛЫ ҚР ДЕРМАТОВЕНЕРОЛОГИЯЛЫҚ ҚЫЗМЕТІНІҢ НЕГІЗГІ СИПАТТАМАЛАРЫ: ТӨСЕК ҚОРЫ, КАДРЛЫҚ ӘЛЕУЕТ, ХАЛЫҚТЫҢ ЖЫНЫСТЫҚ ЖОЛМЕН БЕРІЛЕТІН ИНФЕКЦИЯЛАРМЕН ЖАЛПЫ СЫРҚАТТАНУЫAsylhan Abishev, М.К. Габасова, А.Ж. Жумабекова, М.Х. Джусупгалиева · 2024 · Voprosy dermatologii i venerologii/Dermatologiâ ža̋ne veneralogiâ ma̋selelerì
- ГЕНОДЕРМАТОЗДАР: ЖІКТЕЛУІ ЖӘНЕ ОЛАРДЫҢ ЕРЕКШЕЛІКТЕРІД.Б. Камалова · 2024 · Voprosy dermatologii i venerologii/Dermatologiâ ža̋ne veneralogiâ ma̋selelerì
- КРАСНЫЙ ПЛОСКИЙ ЛИШАЙ: СОВРЕМЕННЫЕ АСПЕКТЫ ЭТИОЛОГИИ, КЛИНИКИ И МЕТОДАХ ЛЕЧЕНИЯ (ОБЗОР ЛИТЕРАТУРЫ)Г.М. Изтлеуова, Р.К. Алиева, А.З. Жангереева, М.Ә. Хайдар, А.А. Жуашаева, Ә.Ж. Жәнібекова · 2024 · Voprosy dermatologii i venerologii/Dermatologiâ ža̋ne veneralogiâ ma̋selelerì