Striate palmoplantar keratoderma arising from desmoplakin and desmoglein 1 mutations is associated with contrasting perturbations of desmosomes and the keratin filament network
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A. South | P. Dopping-Hepenstal | H. Wan | J A McGrath | M. Stone | F. Keane | P. Purkis | H Wan | P J C Dopping-Hepenstal | M J Gratian | M G Stone | G Zhu | P E Purkis | A P South | F Keane | D K B Armstrong | R S Buxton | R A J Eady | M. Gratian | R. Eady | R. Buxton | D. Armstrong | J. McGrath | R.A.J. Eady | P.J.C. Dopping‐Hepenstal | M.J. Gratian | G. Zhu | P.E. Purkis | John A. McGrath | R. A. Eady | Hong Wan | M. G. Stone | P. E. Purkis | A. P. South | D. K. B. Armstrong | Roger S. Buxton
[1] T. Nishikawa,et al. A simple epithelial cell line (MDCK) shows heterogeneity of desmoglein isoforms, one resembling pemphigus vulgaris antigen. , 1995, Journal of cell science.
[2] D. Garrod,et al. Desmosomes and hemidesmosomes. , 1993, Current opinion in cell biology.
[3] F. H. White,et al. Desmosomes in hamster cheek pouch epithelium: their quantitative characterization during epithelial differentiation. , 1984, Journal of cell science.
[4] F. Watt,et al. Suprabasal integrin expression in the epidermis of transgenic mice results in developmental defects and a phenotype resembling psoriasis , 1995, Cell.
[5] D. Kelsell,et al. Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma , 2001, European Journal of Human Genetics.
[6] J. McGrath,et al. Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome. , 2000, The Journal of investigative dermatology.
[7] I. Leigh,et al. Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. , 1999, Human molecular genetics.
[8] D. Parry,et al. Structure of the human desmoplakins. Implications for function in the desmosomal plaque. , 1990, The Journal of biological chemistry.
[9] H. Kurzen,et al. Compositionally different desmosomes in the various compartments of the human hair follicle. , 1998, Differentiation; research in biological diversity.
[10] A. Ishida-Yamamoto,et al. Epidermolysis bullosa simplex (Dowling‐Meara). A clinicopathological review , 1992, The British journal of dermatology.
[11] K. M. Zinn,et al. Transmission electron microscopy. , 1973, International ophthalmology clinics.
[12] K. Green,et al. The Amino-terminal Domain of Desmoplakin Binds to Plakoglobin and Clusters Desmosomal Cadherin–Plakoglobin Complexes , 1997, The Journal of cell biology.
[13] Kathleen J. Green,et al. Are desmosomes more than tethers for intermediate filaments? , 2000, Nature Reviews Molecular Cell Biology.
[14] E. Lane,et al. Stem cells in hair follicles. Cytoskeletal studies. , 1991, Annals of the New York Academy of Sciences.
[15] D. Mischke,et al. Normal psoriatic epidermis expression of hyperproliferation-associated keratins , 2004, Archives of Dermatological Research.
[16] D. Garrod,et al. Splitting and internalization of the desmosomes of cultured kidney epithelial cells by reduction in calcium concentration. , 1986, Journal of cell science.
[17] R. Dobson,et al. British Association of Dermatologists , 2014 .
[18] D. Kelsell,et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. , 2000, Human molecular genetics.
[19] C. Haffner,et al. The Function of Plakophilin 1 in Desmosome Assembly and Actin Filament Organization , 2000, The Journal of cell biology.
[20] K. Danno,et al. Epidermolytic hereditary palmoplantar keratoderma. Histologic, ultrastructural, protein-chemical, and DNA analyses in two patients. , 1988, Archives of dermatology.
[21] A. Magee,et al. Molecular map of the desmosomal plaque. , 1999, Journal of cell science.
[22] E. Lane,et al. Antibody markers of basal cells in complex epithelia. , 1990, Journal of cell science.
[23] A. Magee,et al. Antisense expression of a desmocollin gene in MDCK cells alters desmosome plaque assembly but does not affect desmoglein expression. , 1998, European journal of cell biology.
[24] J. McGrath,et al. Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. , 2002, The Journal of investigative dermatology.
[25] J. McGrath. A Novel Genodermatosis Caused by Mutations in Plakophilin 1, A Structural Component of Desmosomes , 1999, The Journal of dermatology.
[26] K. Sayama,et al. Different effects of dominant negative mutants of desmocollin and desmoglein on the cell-cell adhesion of keratinocytes. , 2000, Journal of cell science.
[27] A. Merritt,et al. Desmosomal cadherins. , 2002, Current opinion in cell biology.
[28] K. Green,et al. The desmoplakin carboxyl terminus coaligns with and specifically disrupts intermediate filament networks when expressed in cultured cells , 1992, The Journal of cell biology.
[29] K. Green,et al. Breaking the connection: displacement of the desmosomal plaque protein desmoplakin from cell-cell interfaces disrupts anchorage of intermediate filament bundles and alters intercellular junction assembly , 1996, The Journal of cell biology.
[30] I. Burdett. Aspects of the structure and assembly of desmosomes. , 1998, Micron.
[31] D. Garrod,et al. Size heterogeneity, phosphorylation and transmembrane organisation of desmosomal glycoproteins 2 and 3 (desmocollins) in MDCK cells. , 1990, Journal of cell science.
[32] K. Green,et al. Desmosomes and hemidesmosomes: structure and function of molecular components , 1996, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.
[33] E. Lane,et al. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome , 1997, Nature Genetics.
[34] F. Watt,et al. Measurement of the rate of epidermal terminal differentiation: expression of involucrin by S-phase keratinocytes in culture and in psoriatic plaques. , 1987, The Journal of investigative dermatology.
[35] A. Crosby,et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease) , 2000, The Lancet.
[36] J. McGrath,et al. Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. , 1999, The Journal of investigative dermatology.
[37] J. McGrath,et al. Desmosomes exhibit site‐specific features in human palm skin , 2003, Experimental dermatology.
[38] K. Green,et al. Roles of plakoglobin end domains in desmosome assembly. , 1997, Journal of cell science.
[39] I. Burdett. Internalisation of desmosomes and their entry into the endocytic pathway via late endosomes in MDCK cells. Possible mechanisms for the modulation of cell adhesion by desmosomes during development. , 1993, Journal of cell science.
[40] E. Weibel. Stereological Methods. Practical methods for biological morphometry , 1979 .
[41] E. Fuchs,et al. Mice expressing a mutant desmosomal cadherin exhibit abnormalities in desmosomes, proliferation, and epidermal differentiation , 1996, The Journal of cell biology.
[42] L. Godsel,et al. Plakophilin 1 interferes with plakoglobin binding to desmoplakin, yet together with plakoglobin promotes clustering of desmosomal plaque complexes at cell-cell borders. , 2001, Journal of cell science.
[43] D. Parry,et al. Structure of Desmoplakin and Its Association with Intermediate Filaments , 1992, The Journal of dermatology.
[44] K. Green,et al. Functional analysis of desmoplakin domains: specification of the interaction with keratin versus vimentin intermediate filament networks , 1993, The Journal of cell biology.
[45] D. Kelsell,et al. The palmoplantar keratodermas: much more than palms and soles. , 1999, Molecular medicine today.
[46] Lake,et al. Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1 , 1999, The British journal of dermatology.
[47] E. Fuchs,et al. Evidence for posttranscriptional regulation of the keratins expressed during hyperproliferation and malignant transformation in human epidermis , 1986, The Journal of cell biology.
[48] D. Garrod,et al. Distinct desmocollin isoforms occur in the same desmosomes and show reciprocally graded distributions in bovine nasal epidermis. , 1996, Proceedings of the National Academy of Sciences of the United States of America.
[49] P. Coulombe,et al. Increased expression of keratin 16 causes anomalies in cytoarchitecture and keratinization in transgenic mouse skin , 1994, The Journal of cell biology.
[50] U. Nuber,et al. Patterns of desmocollin synthesis in human epithelia: immunolocalization of desmocollins 1 and 3 in special epithelia and in cultured cells. , 1996, European journal of cell biology.
[51] A. Merritt,et al. Suprabasal Desmoglein 3 Expression in the Epidermis of Transgenic Mice Results in Hyperproliferation and Abnormal Differentiation , 2002, Molecular and Cellular Biology.
[52] I. Leigh,et al. Monospecific monoclonal antibodies to keratin 1 carboxy terminal (synthetic peptide) and to keratin 10 as markers of epidermal differentiation , 1993, The British journal of dermatology.
[53] F. Watt,et al. Desmosomal glycoprotein DGI, a component of intercellular desmosome junctions, is related to the cadherin family of cell adhesion molecules. , 1991, Proceedings of the National Academy of Sciences of the United States of America.
[54] A. Merritt,et al. Desmosomal adhesion: structural basis, molecular mechanism and regulation (Review) , 2002, Molecular membrane biology.