Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma.

PubWeight™: 1.52‹?› | Rank: Top 4%

🔗 View Article (PMID 9887343)

Published in Hum Mol Genet on January 01, 1999

Authors

D K Armstrong1, K E McKenna, P E Purkis, K J Green, R A Eady, I M Leigh, A E Hughes

Author Affiliations

1: Department of Medical Genetics, The Queen's University of Belfast, Belfast City Hospital, Belfast BT9 7AB, UK.

Articles citing this

Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. Nat Genet (2013) 3.17

Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet (2002) 2.95

Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation. J Cell Biol (2004) 1.92

Microtubule actin cross-linking factor (MACF): a hybrid of dystonin and dystrophin that can interact with the actin and microtubule cytoskeletons. J Cell Biol (1999) 1.83

Intermediate filament-membrane attachments function synergistically with actin-dependent contacts to regulate intercellular adhesive strength. J Cell Biol (2002) 1.83

The desmosome. Cold Spring Harb Perspect Biol (2009) 1.77

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome. J Med Genet (2006) 1.64

Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities. J Invest Dermatol (2009) 1.62

The desmosome and pemphigus. Histochem Cell Biol (2008) 1.54

Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. Am J Hum Genet (2005) 1.43

Defining desmosomal plakophilin-3 interactions. J Cell Biol (2003) 1.36

Desmoplakin assembly dynamics in four dimensions: multiple phases differentially regulated by intermediate filaments and actin. J Cell Biol (2005) 1.35

The alpha isoform of protein kinase C is involved in signaling the response of desmosomes to wounding in cultured epithelial cells. Mol Biol Cell (2000) 1.35

Mechanistic basis of desmosome-targeted diseases. J Mol Biol (2013) 1.16

Desmosomes at a glance. J Cell Sci (2009) 1.14

The molecular genetic analysis of the expanding pachyonychia congenita case collection. Br J Dermatol (2014) 1.13

Diseases of epidermal keratins and their linker proteins. Exp Cell Res (2007) 1.13

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. Nat Genet (2012) 1.08

Plakins, a versatile family of cytolinkers: roles in skin integrity and in human diseases. J Invest Dermatol (2013) 1.01

Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24. J Med Genet (2003) 1.01

Desmosomes: just cell adhesion or is there more? Cell Adh Migr (2007) 0.94

Crystal structure of a rigid four-spectrin-repeat fragment of the human desmoplakin plakin domain. J Mol Biol (2011) 0.94

Disparate effects of different mutations in plakoglobin on cell mechanical behavior. Cell Motil Cytoskeleton (2008) 0.93

Disorders of keratinisation: from rare to common genetic diseases of skin and other epithelial tissues. Ulster Med J (2007) 0.92

Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene. J Dermatol Sci (2006) 0.87

Hinged plakin domains provide specialized degrees of articulation in envoplakin, periplakin and desmoplakin. PLoS One (2013) 0.87

Genetic disorders of palm skin and nail. J Anat (2003) 0.84

Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma. J Dermatol Sci (2009) 0.81

Genetic bases of arrhythmogenic right ventricular Cardiomyopathy. Heart Int (2006) 0.80

Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome. Hum Mol Genet (2015) 0.79

Recent advances in understanding ichthyosis pathogenesis. F1000Res (2016) 0.78

Role of subtilisin-like convertases in cadherin processing or the conundrum to stall cadherin function by convertase inhibitors in cancer therapy. J Mol Histol (2004) 0.78

Do cell junction protein mutations cause an airway phenotype in mice or humans? Am J Respir Cell Mol Biol (2011) 0.77

Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family. BMC Med Genomics (2015) 0.76

Structure of the Intermediate Filament-Binding Region of Desmoplakin. PLoS One (2016) 0.75

Identification and characterization of DSPIa, a novel isoform of human desmoplakin. Cell Tissue Res (2010) 0.75

Structural and biochemical changes underlying a keratoderma-like phenotype in mice lacking suprabasal AP1 transcription factor function. Cell Death Dis (2015) 0.75

CXCL11 Expression by Keratinocytes Occurs Transiently Between Reaching Confluence and Cellular Compaction. Adv Wound Care (New Rochelle) (2016) 0.75

Articles by these authors

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature (1997) 6.89

Role of a p53 polymorphism in the development of human papillomavirus-associated cancer. Nature (1998) 6.16

British Association of Dermatologists' guidelines for biologic interventions for psoriasis 2009. Br J Dermatol (2009) 4.12

Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet (2000) 3.39

British Association of Dermatologists guidelines for use of biological interventions in psoriasis 2005. Br J Dermatol (2005) 3.10

Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry. J Am Acad Dermatol (1991) 2.79

The vertebrate adhesive junction proteins beta-catenin and plakoglobin and the Drosophila segment polarity gene armadillo form a multigene family with similar properties. J Cell Biol (1992) 2.69

A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. Nature (1992) 2.49

Human papillomavirus infections in nonmelanoma skin cancers from renal transplant recipients and nonimmunosuppressed patients. J Natl Cancer Inst (1996) 2.28

Keratin antigens in differentiating skin. Ann N Y Acad Sci (1985) 2.10

High levels of type VII collagen expression in recessive dystrophic epidermolysis bullosa cutaneous squamous cell carcinoma keratinocytes increases PI3K and MAPK signalling, cell migration and invasion. Br J Dermatol (2014) 2.09

Antibody markers of basal cells in complex epithelia. J Cell Sci (1990) 2.08

Keratin expression in human mammary epithelial cells cultured from normal and malignant tissue: relation to in vivo phenotypes and influence of medium. J Cell Sci (1989) 2.07

Human papillomavirus infection and non-melanoma skin cancer in immunosuppressed and immunocompetent individuals. J Med Virol (2000) 2.03

Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas. Arch Dermatol (1996) 2.00

Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa. J Am Acad Dermatol (2000) 1.97

Keratins (K16 and K17) as markers of keratinocyte hyperproliferation in psoriasis in vivo and in vitro. Br J Dermatol (1995) 1.96

Guidelines for topical photodynamic therapy: update. Br J Dermatol (2008) 1.96

The amino-terminal domain of desmoplakin binds to plakoglobin and clusters desmosomal cadherin-plakoglobin complexes. J Cell Biol (1997) 1.93

Basal cell-specific and hyperproliferation-related keratins in human breast cancer. Am J Pathol (1991) 1.88

Caspase cleavage of vimentin disrupts intermediate filaments and promotes apoptosis. Cell Death Differ (2001) 1.87

Expression of simple epithelial keratins 8 and 18 in epidermal neoplasia. J Invest Dermatol (1991) 1.87

The organization of the pudendal nerve in the male and female rat. J Comp Neurol (1986) 1.86

Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nat Genet (1995) 1.83

The desmoplakin carboxyl terminus coaligns with and specifically disrupts intermediate filament networks when expressed in cultured cells. J Cell Biol (1992) 1.80

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Nat Genet (1996) 1.78

Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization. Genes Dev (1996) 1.75

The relationship between intermediate filaments and microfilaments before and during the formation of desmosomes and adherens-type junctions in mouse epidermal keratinocytes. J Cell Biol (1987) 1.74

Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. Nat Genet (1995) 1.71

Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa. J Invest Dermatol (1995) 1.69

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet (1997) 1.68

Nomenclature of the desmosomal cadherins. J Cell Biol (1993) 1.65

Functional analysis of desmoplakin domains: specification of the interaction with keratin versus vimentin intermediate filament networks. J Cell Biol (1993) 1.65

Idiopathic scrotal calcinosis is idiopathic. J Am Acad Dermatol (1991) 1.64

Binding of integrin alpha6beta4 to plectin prevents plectin association with F-actin but does not interfere with intermediate filament binding. J Cell Biol (1999) 1.64

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome. J Med Genet (2006) 1.64

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. J Cell Biol (1996) 1.64

Keratin 19: predicted amino acid sequence and broad tissue distribution suggest it evolved from keratinocyte keratins. J Invest Dermatol (1989) 1.61

Two-hybrid analysis reveals fundamental differences in direct interactions between desmoplakin and cell type-specific intermediate filaments. J Biol Chem (1997) 1.59

Psoriasis: maintenance of an intact monolayer basal cell differentiation compartment in spite of hyperproliferation. Br J Dermatol (1985) 1.58

Aberrant integrin expression during epidermal wound healing and in psoriatic epidermis. J Clin Invest (1992) 1.58

A new method for recovery of exudates from normal and inflamed human skin. Clin Exp Dermatol (1977) 1.58

Intraepidermal type VII collagen. Evidence for abnormal intracytoplasmic processing of a major basement membrane protein in rare patients with dominant and possibly localized recessive forms of dystrophic epidermolysis bullosa. J Am Acad Dermatol (1990) 1.54

Mast cell population density, blood vessel density and histamine content in normal human skin. Br J Dermatol (1979) 1.53

Distribution of cytokeratin polypeptides in human transitional cell carcinomas, with special emphasis on changing expression patterns during tumor progression. Am J Pathol (1990) 1.53

Desmosomes: intercellular adhesive junctions specialized for attachment of intermediate filaments. Int Rev Cytol (1999) 1.52

Specific types of human papillomavirus found in benign proliferations and carcinomas of the skin in immunosuppressed patients. Cancer Res (1994) 1.51

Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. Eur J Hum Genet (2000) 1.48

Sildenafil causes a dose- and time-dependent downregulation of phosphodiesterase type 6 expression in the rat retina. Int J Impot Res (1999) 1.48

A functional "knockout" of human keratin 14. Genes Dev (1994) 1.48

Antigen-specific immunoadsorption of pathogenic autoantibodies in pemphigus foliaceus. J Invest Dermatol (1995) 1.47

Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features. Br J Dermatol (1994) 1.47

Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. J Invest Dermatol (1999) 1.47

Noninvasive assessment of left ventricular diastolic function by pulsed Doppler echocardiography in patients with hypertrophic cardiomyopathy. J Am Coll Cardiol (1987) 1.46

Detection of basement membrane components and basal cell keratin 14 in noninvasive and invasive carcinomas of the breast. Am J Pathol (1989) 1.46

Immunohistochemical analysis of burn depth. J Burn Care Rehabil (1999) 1.46

Degenerate and nested PCR: a highly sensitive and specific method for detection of human papillomavirus infection in cutaneous warts. J Clin Microbiol (1999) 1.46

Adult-onset Still's disease. Twenty-year followup and further studies of patients with active disease. Arthritis Rheum (1982) 1.45

Desmoplakin II expression is not restricted to stratified epithelia. J Cell Sci (1990) 1.44

Cleavage patterns, cell lineages, and development of a cytoplasmic bridge system in Volvox embryos. J Cell Biol (1981) 1.43

Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43. Am J Hum Genet (2001) 1.42

Formation of hemidesmosomes in vitro by a transformed rat bladder cell line. J Cell Biol (1991) 1.41

Abnormal expression of wild type p53 protein in normal cells of a cancer family patient. Lancet (1992) 1.41

Molecular map of the desmosomal plaque. J Cell Sci (1999) 1.39

Complement in age-related macular degeneration: a focus on function. Eye (Lond) (2011) 1.39

Immortalisation of human urothelial cells. Urol Res (1995) 1.38

A novel human type II cytokeratin, K6hf, specifically expressed in the companion layer of the hair follicle. J Invest Dermatol (1998) 1.37

Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer. Br J Dermatol (2005) 1.37

N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. Hum Mol Genet (1999) 1.35

The identification of a brainstem site controlling spinal sexual reflexes in male rats. Brain Res (1990) 1.35

Posttranslational regulation of plakoglobin expression. Influence of the desmosomal cadherins on plakoglobin metabolic stability. J Biol Chem (1994) 1.33

Potential applications of anti-keratin antibodies in oral diagnosis. J Oral Pathol (1987) 1.33

Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex. J Invest Dermatol (1997) 1.32

Molecular structure of the human desmoplakin I and II amino terminus. Proc Natl Acad Sci U S A (1992) 1.31

Density-dependent modulation of synthesis of keratins 1 and 10 in the human keratinocyte line HACAT and in ras-transfected tumorigenic clones. Differentiation (1989) 1.30

Treatment of erythema multiforme secondary to herpes simplex by prophylactic topical acyclovir. Br Med J (Clin Res Ed) (1981) 1.30

Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. Nat Genet (1997) 1.25

Structural analysis and expression of human desmoglein: a cadherin-like component of the desmosome. J Cell Sci (1991) 1.25

Production of rabbit antibodies against carboxy-terminal epitopes encoded by bullous pemphigoid cDNA. J Invest Dermatol (1990) 1.24

Monoclonal antibody GB3 defines a widespread defect of several basement membranes and a keratinocyte dysfunction in patients with lethal junctional epidermolysis bullosa. Lab Invest (1991) 1.23

Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14-q21 by homozygosity mapping. Hum Genet (1997) 1.21

Type VII collagen is a normal component of epidermal basement membrane, which shows altered expression in recessive dystrophic epidermolysis bullosa. J Invest Dermatol (1988) 1.21

Evaluation of anchoring fibrils and other components of the dermal-epidermal junction in dystrophic epidermolysis bullosa by a quantitative ultrastructural technique. J Invest Dermatol (1985) 1.21

Prophylactic topical acyclovir for frequent recurrent herpes simplex infection with and without erythema multiforme. Br Med J (Clin Res Ed) (1983) 1.21

The head domain of plakophilin-1 binds to desmoplakin and enhances its recruitment to desmosomes. Implications for cutaneous disease. J Biol Chem (1999) 1.21

Increased risk of skin cancer associated with the presence of epidermodysplasia verruciformis human papillomavirus types in normal skin. Br J Dermatol (2004) 1.20

Growth of the rat prostate gland is facilitated by the autonomic nervous system. Biol Reprod (1994) 1.19

Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition. Am J Pathol (1996) 1.19