Broken hearts, woolly hair, and tattered skin: when desmosomal adhesion goes awry
Tài liệu tham khảo
Dusek, 2007, Discriminating roles of desmosomal cadherins: beyond desmosomal adhesion, J Dermatol Sci, 45, 7, 10.1016/j.jdermsci.2006.10.006
McGrath, 2005, Inherited disorders of desmosomes, Australas J Dermatol, 46, 221, 10.1111/j.1440-0960.2005.00188.x
Koch, 1992, Complexity and expression patterns of the desmosomal cadherins, Proc Natl Acad Sci U S A, 89, 353, 10.1073/pnas.89.1.353
Syed, 2002, Molecular interactions between desmosomal cadherins, Biochem J, 362, 317, 10.1042/0264-6021:3620317
Kljuic, 2003, Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris, Cell, 113, 249, 10.1016/S0092-8674(03)00273-3
Bazzi, 2006, Desmoglein 4 is expressed in highly differentiated keratinocytes and trichocytes in human epidermis and hair follicle, Differentiation, 74, 129, 10.1111/j.1432-0436.2006.00061.x
Kottke, 2006, The desmosome: cell science lessons from human diseases, J Cell Sci, 119, 797, 10.1242/jcs.02888
Koch, 1997, Targeted disruption of the pemphigus vulgaris antigen (desmoglein 3) gene in mice causes loss of keratinocyte cell adhesion with a phenotype similar to pemphigus vulgaris, J Cell Biol, 137, 1091, 10.1083/jcb.137.5.1091
Chidgey, 2001, Mice lacking desmocollin 1 show epidermal fragility accompanied by barrier defects and abnormal differentiation, J Cell Biol, 155, 821, 10.1083/jcb.200105009
Rickman, 1999, N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma, Hum Mol Genet, 8, 971, 10.1093/hmg/8.6.971
Brennan, 2004, Differential structural properties and expression patterns suggest functional significance for multiple mouse desmoglein 1 isoforms, Differentiation, 72, 434, 10.1111/j.1432-0436.2004.07208009.x
Jahoda, 2004, The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene, Genomics, 83, 747, 10.1016/j.ygeno.2003.11.015
Shimomura, 2006, Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis, J Invest Dermatol, 126, 1281, 10.1038/sj.jid.5700113
Zlotogorski, 2006, An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis, J Invest Dermatol, 126, 1292, 10.1038/sj.jid.5700251
Schaffer, 2006, Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions, J Invest Dermatol, 126, 1286, 10.1038/sj.jid.5700237
Schweizer, 2006, More than one gene involved in monilethrix: intracellular but also extracellular players, J Invest Dermatol, 126, 1216, 10.1038/sj.jid.5700266
Eshkind, 2002, Loss of desmoglein 2 suggests essential functions for early embryonic development and proliferation of embryonal stem cells, Eur J Cell Biol, 81, 592, 10.1078/0171-9335-00278
Den, 2006, Desmocollin 3 is required for pre-implantation development of the mouse embryo, J Cell Sci, 119, 482, 10.1242/jcs.02769
Awad, 2006, DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy, Am J Hum Genet, 79, 136, 10.1086/504393
Heuser, 2006, Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy, Am J Hum Genet, 79, 1081, 10.1086/509044
Pilichou, 2006, Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy, Circulation, 113, 1171, 10.1161/CIRCULATIONAHA.105.583674
Syrris, 2007, Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype–phenotype characterization of familial disease, Eur Heart J, 28, 581, 10.1093/eurheartj/ehl380
van Tintelen, 2007, Molecular genetics of arrhythmogenic right ventricular cardiomyopathy: emerging horizon?, Curr Opin Cardiol, 22, 185, 10.1097/HCO.0b013e3280d942c4
Garcia-Gras, 2006, Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy, J Clin Invest, 116, 2012, 10.1172/JCI27751
Garrod, 2002, Desmosomal cadherins, Curr Opin Cell Biol, 14, 537, 10.1016/S0955-0674(02)00366-6
McKoy, 2000, Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease), Lancet, 355, 2119, 10.1016/S0140-6736(00)02379-5
Norgett, 2000, Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma, Hum Mol Genet, 9, 2761, 10.1093/hmg/9.18.2761
Yang, 2006, Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy, Circ Res, 99, 646, 10.1161/01.RES.0000241482.19382.c6
Djabali, 2002, Evidence for extensive locus heterogeneity in Naxos disease, J Invest Dermatol, 118, 557, 10.1046/j.0022-202x.2001.01627.x
Gerull, 2004, Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy, Nat Genet, 36, 1162, 10.1038/ng1461
Grossmann, 2004, Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation, J Cell Biol, 167, 149, 10.1083/jcb.200402096
Syrris, 2006, Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy, Circulation, 113, 356, 10.1161/CIRCULATIONAHA.105.561654
van Tintelen, 2006, Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy, Circulation, 113, 1650, 10.1161/CIRCULATIONAHA.105.609719
Duffy, 2006, How do myocytes tell right from left?, Circ Res, 99, 563, 10.1161/01.RES.0000243582.08718.01
Ersoy-Evans, 2006, Ectodermal dysplasia—skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1, J Am Acad Dermatol, 55, 157, 10.1016/j.jaad.2005.10.002
Vasioukhin, 2001, Desmoplakin is essential in epidermal sheet formation, Nat Cell Biol, 3, 1076, 10.1038/ncb1201-1076
Maeda, 2004, Plakoglobin (gamma-catenin) has TCF/LEF family-dependent transcriptional activity in beta-catenin-deficient cell line, Oncogene, 23, 964, 10.1038/sj.onc.1207254
Yin, 2005, Plakoglobin suppresses keratinocyte motility through both cell–cell adhesion-dependent and -independent mechanisms, Proc Natl Acad Sci U S A, 102, 5420, 10.1073/pnas.0501676102
Hardman, 2005, Desmosomal cadherin misexpression alters beta-catenin stability and epidermal differentiation, Mol Cell Biol, 25, 969, 10.1128/MCB.25.3.969-978.2005
Brennan, 2007, Suprabasal Dsg2 expression in transgenic mouse skin confers a hyperproliferative and apoptosis-resistant phenotype to keratinocytes, J Cell Sci, 120, 758, 10.1242/jcs.03392
Biedermann, 2005, Desmoglein 2 is expressed abnormally rather than mutated in familial and sporadic gastric cancer, J Pathol, 207, 199, 10.1002/path.1821
Yashiro, 2006, Decreased expression of the adhesion molecule desmoglein-2 is associated with diffuse-type gastric carcinoma, Eur J Cancer, 42, 2397, 10.1016/j.ejca.2006.03.024
Kurzen, 2003, Expression of desmosomal proteins in squamous cell carcinomas of the skin, J Cutan Pathol, 30, 621, 10.1034/j.1600-0560.2003.00122.x
Khan, 2006, Desmocollin switching in colorectal cancer, Br J Cancer, 95, 1367, 10.1038/sj.bjc.6603453
Oshiro, 2005, Epigenetic silencing of DSC3 is a common event in human breast cancer, Breast Cancer Res, 7, R669, 10.1186/bcr1273
Chen, 2007, DSG3 is overexpressed in head neck cancer and is a potential molecular target for inhibition of oncogenesis, Oncogene, 26, 467, 10.1038/sj.onc.1209802
Chidgey M, Dawson C: Desmosomes: a role in cancer?Br J Cancer 2007, 96:1783–1787.
Huber, 2005, Molecular requirements for epithelial–mesenchymal transition during tumor progression, Curr Opin Cell Biol, 17, 548, 10.1016/j.ceb.2005.08.001
Asimaki, 2007, A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy, Am J Hum Genet, 81, 964, 10.1086/521633