Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)
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A. Crosby | W. McKenna | A. Coonar | C. Baboonian | S. Jeffery | M. Norman | A. Anastasakis | N. Protonotarios | A. Tsatsopoulou | G. Mckoy
[1] J. Seidman,et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. , 1999, The New England journal of medicine.
[2] A. Magee,et al. Molecular map of the desmosomal plaque. , 1999, Journal of cell science.
[3] H. Smeets,et al. Novel KCNQ1 and HERG missense mutations in Dutch long‐QT families , 1999, Human mutation.
[4] M. Hatzfeld. The armadillo family of structural proteins. , 1999, International review of cytology.
[5] M. Gardner,et al. Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23. , 1998, Circulation.
[6] L. Carvajal-Huerta. Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. , 1998, Journal of the American Academy of Dermatology.
[7] W. Mckenna,et al. Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21. , 1998, Circulation.
[8] G. Fontaine,et al. Arrhythmogenic right ventricular cardiomyopathies: clinical forms and main differential diagnoses. , 1998, Circulation.
[9] R. Lavker,et al. Desmoglein 3 anchors telogen hair in the follicle. , 1998, Journal of cell science.
[10] H. Schnittler,et al. Role of cadherins and plakoglobin in interendothelial adhesion under resting conditions and shear stress. , 1997, The American journal of physiology.
[11] G. Danieli,et al. ARVD4, a new locus for arrhythmogenic right ventricular cardiomyopathy, maps to chromosome 2 long arm. , 1997, Genomics.
[12] E. Lane,et al. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome , 1997, Nature Genetics.
[13] K. Green,et al. Roles of plakoglobin end domains in desmosome assembly. , 1997, Journal of cell science.
[14] R Kemler,et al. Embryonic heart and skin defects in mice lacking plakoglobin. , 1996, Developmental biology.
[15] S. Troyanovsky,et al. Cadherin binding sites of plakoglobin: localization, specificity and role in targeting to adhering junctions. , 1996, Journal of cell science.
[16] W. Birchmeier,et al. Targeted mutation of plakoglobin in mice reveals essential functions of desmosomes in the embryonic heart , 1996, The Journal of cell biology.
[17] Rao Bh,et al. Familial occurrence of a rare combination of dilated cardiomyopathy with palmoplantar keratoderma and curly hair. , 1996 .
[18] D. Schmitt,et al. Interkeratinocyte adherens junctions: immunocytochemical visualization of cell-cell junctional structures, distinct from desmosomes, in human epidermis. , 1996, The Journal of investigative dermatology.
[19] L. Mestroni,et al. A new locus for arrhythmogenic right ventricular dysplasia on the long arm of chromosome 14. , 1996, Genomics.
[20] R Kemler,et al. N-cadherin in adult rat cardiomyocytes in culture. II. Spatio-temporal appearance of proteins involved in cell-cell contact and communication. Formation of two distinct N-cadherin/catenin complexes. , 1996, Journal of cell science.
[21] G. Danieli,et al. A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43. , 1995, Human molecular genetics.
[22] H. Lynch,et al. The human plakoglobin gene localizes on chromosome 17q21 and is subjected to loss of heterozygosity in breast and ovarian cancers. , 1995, Proceedings of the National Academy of Sciences of the United States of America.
[23] G Thiene,et al. The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24. , 1994, Human molecular genetics.
[24] A. Nava,et al. Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology. , 1994, British heart journal.
[25] B. Nico,et al. Right ventricular dysplasia: an ultrastructural study. , 1989, European heart journal.
[26] C. Guiraudon. Histological diagnosis of right ventricular dysplasia: a role for electron microscopy? , 1989, European heart journal.
[27] W. Franke,et al. Biochemical characterization of the soluble form of the junctional plaque protein, plakoglobin, from different cell types. , 1987, European journal of biochemistry.
[28] N. Protonotarios,et al. Cardiac abnormalities in familial palmoplantar keratosis. , 1986, British heart journal.
[29] U. K. Laemmli,et al. Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4 , 1970, Nature.