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Cell Communication & Adhesion Volume 21, 2014 - Issue 3
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Review Article

Insights into Desmosome Biology from Inherited Human Skin Disease and Cardiocutaneous Syndromes

Daniela NitoiuCentre for Cutaneous Research, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK
,
Sarah L. EtheridgeCentre for Cutaneous Research, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK
&
David P. KelsellCentre for Cutaneous Research, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UKCorrespondence[email protected]
Pages 129-140 | Received 21 Mar 2014, Accepted 24 Mar 2014, Published online: 16 Apr 2014

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Pedro J. Salas, Radia Forteza & Anastasia Mashukova. (2016) Multiple roles for keratin intermediate filaments in the regulation of epithelial barrier function and apico-basal polarity. Tissue Barriers 4:3.
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Sunil Yeruva & Jens Waschke. (2022) Structure and regulation of desmosomes in intercalated discs: Lessons from epithelia. Journal of Anatomy 242:1, pages 81-90.
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Bo He, Li Guo, Youwen Hu, Hongyan Huang, Lijun Wan, Kedong Xu, Fenfen Wang & Zhili Wen. (2022) Desmocollin-2 inhibits cell proliferation and promotes apoptosis in hepatocellular carcinoma via the ERK/c-MYC signaling pathway. Aging.
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S. G. Fetisova, E. S. Sivushchina, O. A. Kofeynikova, T. L. Vershinina, P. S. Sokolnikova, A. A. Kostаreva, A. V. Ryzhkov & E. S. Vasichkina. (2022) Rare form of arrhythmogenic cardiomyopathy in a 5-year-old child. Russian Journal for Personalized Medicine 2:2, pages 104-112.
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Leila Rouhi, Siyang Fan, Sirisha M Cheedipudi, Aitana Braza-Boïls, Maria Sabater Molina, Yan Yao, Matthew J Robertson, Cristian Coarfa, Juan R Gimeno, Pilar Molina, Priyatansh Gurha, Esther Zorio & Ali J Marian. (2022) The EP300/TP53 pathway, a suppressor of the Hippo and canonical WNT pathways, is activated in human hearts with arrhythmogenic cardiomyopathy in the absence of overt heart failure. Cardiovascular Research 118:6, pages 1466-1478.
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Stephanie E. Zimmer, Takuya Takeichi, Daniel E. Conway, Akiharu Kubo, Yasushi Suga, Masashi Akiyama & Andrew P. Kowalczyk. (2022) Differential Pathomechanisms of Desmoglein 1 Transmembrane Domain Mutations in Skin Disease. Journal of Investigative Dermatology 142:2, pages 323-332.e8.
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W. Tucker Shelton, S. Madison Thomas, Hunter R. Alexander, C. Evan Thomes, Daniel E. Conway & Adi D. Dubash. (2021) Desmoglein-2 harnesses a PDZ-GEF2/Rap1 signaling axis to control cell spreading and focal adhesions independent of cell–cell adhesion. Scientific Reports 11:1.
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Qisi Sun, Lara Wine Lee, E Kevin Hall, Keith A. Choate & Robert W. Elder. (2020) Hair and skin predict cardiomyopathies: Carvajal and erythrokeratodermia cardiomyopathy syndromes. Pediatric Dermatology 38:1, pages 31-38.
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Shu-Ching Ou, Kuan-Jen Bai, Wun-Hao Cheng, Jing-Yun Chen, Chien-Huang Lin, Heng-Ching Wen & Bing-Chang Chen. (2020) TGF-β Induced CTGF Expression in Human Lung Epithelial Cells through ERK, ADAM17, RSK1, and C/EBPβ Pathways. International Journal of Molecular Sciences 21:23, pages 9084.
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Elena Odintsova, Fiyaz Mohammed, Catharine Trieber, Penelope Rodriguez-Zamora, Caezar Al-Jassar, Tzu-Han Huang, Claudia Fogl, Timothy Knowles, Pooja Sridhar, Jitendra Kumar, Mark Jeeves, Martyn Chidgey & Michael Overduin. (2020) Binding of the periplakin linker requires vimentin acidic residues D176 and E187. Communications Biology 3:1.
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Jacqueline L. Bendrick, Luke A. Eldredge, Erica I. Williams, Nick B. Haight & Adi D. Dubash. (2019) Desmoplakin Harnesses Rho GTPase and p38 Mitogen-Activated Protein Kinase Signaling to Coordinate Cellular Migration. Journal of Investigative Dermatology 139:6, pages 1227-1236.
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Chao Sun, Lei Wang, Xiao-Xia Yang, Yu-Hua Jiang & Xiu-Li Guo. (2019) The aberrant expression or disruption of desmocollin2 in human diseases. International Journal of Biological Macromolecules 131, pages 378-386.
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Giray Enkavi, Matti Javanainen, Waldemar Kulig, Tomasz Róg & Ilpo Vattulainen. (2019) Multiscale Simulations of Biological Membranes: The Challenge To Understand Biological Phenomena in a Living Substance. Chemical Reviews 119:9, pages 5607-5774.
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Kathleen J Green, Avinash Jaiganesh & Joshua A Broussard. (2019) Desmosomes:  Essential contributors to an integrated intercellular junction network. F1000Research 8, pages 2150.
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T. G. Vaikhanskaya, L. N. Sivitskaya, T. V. Kurushko, D. P. Ermakovich, E. V. Zasim & N. G. Danilenko. (2018) Carvajal syndrome: a brief overview and clinical case of cardiomyopathy, associated with compound heterozygous mutations of the desmoplakin gene. Russian Journal of Cardiology:10, pages 151-158.
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Zinaida Dedeić, Gopinath Sutendra, Ying Hu, Kathryn Chung, Elizabeth A. Slee, Michael J. White, Felix Y. Zhou, Robert D. Goldin, David J. P. Ferguson, Debra McAndrew, Jurgen E. Schneider & Xin Lu. (2018) Cell autonomous role of iASPP deficiency in causing cardiocutaneous disorders. Cell Death & Differentiation 25:7, pages 1289-1303.
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Mansa Gurjar, Kumarkrishna Raychaudhuri, Snehal Mahadik, Divya Reddy, Apurva Atak, Trupti Shetty, Kruthi Rao, Mansi S. Karkhanis, Prajakta Gosavi, Lalit Sehgal, Sanjay Gupta & Sorab N. Dalal. (2018) Plakophilin3 increases desmosome assembly, size and stability by increasing expression of desmocollin2. Biochemical and Biophysical Research Communications 495:1, pages 768-774.
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Yanti Octavia, Georgios Kararigas, Martine de Boer, Ihsan Chrifi, Rinrada Kietadisorn, Melissa Swinnen, Hans Duimel, Fons K. Verheyen, Maarten M. Brandt, Daniela Fliegner, Caroline Cheng, Stefan Janssens, Dirk J. Duncker & An L. Moens. (2017) Folic acid reduces doxorubicin-induced cardiomyopathy by modulating endothelial nitric oxide synthase. Journal of Cellular and Molecular Medicine 21:12, pages 3277-3287.
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Philbert Lee, Shangwen Jiang, Yuanyuan Li, Jiping Yue, Xuewen Gou, Shao‐Yu Chen, Yingming Zhao, Markus Schober, Minjia Tan & Xiaoyang Wu. (2017) Phosphorylation of Pkp1 by RIPK 4 regulates epidermal differentiation and skin tumorigenesis . The EMBO Journal 36:13, pages 1963-1980.
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Chantel M. Cadwell, Wenji Su & Andrew P. Kowalczyk. (2016) Cadherin tales: Regulation of cadherin function by endocytic membrane trafficking. Traffic 17:12, pages 1262-1271.
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Brett J. Roberts, Robert A. Svoboda, Andrew M. Overmiller, Joshua D. Lewis, Andrew P. Kowalczyk, My G. Mahoney, Keith R. Johnson & James K. WahlIIIIII. (2016) Palmitoylation of Desmoglein 2 Is a Regulator of Assembly Dynamics and Protein Turnover. Journal of Biological Chemistry 291:48, pages 24857-24865.
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John A. McGrath. 2016. Rook's Textbook of Dermatology, Ninth Edition. Rook's Textbook of Dermatology, Ninth Edition 1 35 .
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