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Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization

Genes & development, 1996-07, Vol.10 (14), p.1724-1735

1996

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Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9 using denaturing high-performance liquid chromatography

British journal of dermatology (1951), 2002-06, Vol.146 (6), p.952-957

2002

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Multiple Epidermal Connexins are Expressed in Different Keratinocyte Subpopulations Including Connexin 31

Journal of investigative dermatology, 2001-10, Vol.117 (4), p.958-964

2001

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Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex

European journal of human genetics : EJHG, 1999-04, Vol.7 (3), p.293-300

1999

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Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

Nature genetics, 1996-08, Vol.13 (4), p.450-457

1996

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Human keratin 8 mutations that disturb filament assembly observed in inflammatory bowel disease patients

Journal of cell science, 2004-04, Vol.117 (Pt 10), p.1989-1999

2004

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The keratins and their disorders

American journal of medical genetics. Part C, Seminars in medical genetics, 2004-11, Vol.131C (1), p.4-11

2004

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Generation and characterization of epidermolysis bullosa simplex cell lines: scratch assays show faster migration with disruptive keratin mutations

British journal of dermatology (1951), 2003-07, Vol.149 (1), p.46-58

2003

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Keratin 16 and keratin 17 mutations cause pachyonychia congenita

Nature genetics, 1995-03, Vol.9 (3), p.273-278

1995

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Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations

Human molecular genetics, 2002-08, Vol.11 (17), p.2005-2014

2002

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A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering

Nature (London), 1992-03, Vol.356 (6366), p.244-246

1992

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K15 Expression Implies Lateral Differentiation within Stratified Epithelial Basal Cells

Laboratory investigation, 2000-11, Vol.80 (11), p.1701-1710

2000

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Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation

British journal of dermatology (1951), 2001-01, Vol.144 (1), p.40-45

2001

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Missense Mutations in Keratin 17 Cause Either Pachyonychia Congenita Type 2 or a Phenotype Resembling Steatocystoma Multiplex

Journal of investigative dermatology, 1997-02, Vol.108 (2), p.220-223

1997

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Deletion of the Cytoplasmatic Domain of BP180/Collagen XVII Causes a Phenotype with Predominant Features of Epidermolysis Bullosa Simplex

Journal of investigative dermatology, 2002-01, Vol.118 (1), p.185-192

2002

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A mutation in the mucosal keratin K4 is associated with oral white sponge nevus

Nature genetics, 1995-12, Vol.11 (4), p.450-452

1995

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A functional "knockout" of human keratin 14

Genes & development, 1994-11, Vol.8 (21), p.2563-2573

1994

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A Novel Mutation in the Keratin 13 Gene Causing Oral White Sponge Nevus

Journal of dental research, 2001-03, Vol.80 (3), p.919-923

2001

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A keratin 14 ‘knockout’ mutation in recessive epidermolysis bullosa simplex resulting in less severe disease

British journal of dermatology (1951), 2000-09, Vol.143 (3), p.621-627

2000

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Telomere shortening: significant for keratinocyte grafting?

The Lancet (British edition), 2003-04, Vol.361 (9366), p.1316-1317

2003

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Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function

Nature genetics, 1993-11, Vol.5 (3), p.294-300

1993

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cDNA Cloning, Expression, and Assembly Characteristics of Mouse Keratin 16

The Journal of biological chemistry, 1998-11, Vol.273 (48), p.32265-32272

1998

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Identification of two novel mutations in keratin 13 as the cause of white sponge naevus

Oral diseases, 1999-10, Vol.5 (4), p.321-324

1999

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Excitotoxic lesions of the pedunculopontine tegmental nucleus of the rat. II. Examination of eating and drinking, rotation, and reaching and grasping following unilateral ibotenate or quinolinate lesions

Brain research, 1992-09, Vol.589 (2), p.194-206

1992

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Excitotoxic lesions of the pedunculopontine tegmental nucleus of the rat. I. Comparison of the effects of various excitotoxins, with particular reference to the loss of immunohistochemically identified cholinergic neurons

Brain research, 1992-09, Vol.589 (2), p.181-193

1992

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Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization

Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9 using denaturing high-performance liquid chromatography

Multiple Epidermal Connexins are Expressed in Different Keratinocyte Subpopulations Including Connexin 31

Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

Human keratin 8 mutations that disturb filament assembly observed in inflammatory bowel disease patients

The keratins and their disorders

Generation and characterization of epidermolysis bullosa simplex cell lines: scratch assays show faster migration with disruptive keratin mutations

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations

A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering

K15 Expression Implies Lateral Differentiation within Stratified Epithelial Basal Cells

Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation

Missense Mutations in Keratin 17 Cause Either Pachyonychia Congenita Type 2 or a Phenotype Resembling Steatocystoma Multiplex

Deletion of the Cytoplasmatic Domain of BP180/Collagen XVII Causes a Phenotype with Predominant Features of Epidermolysis Bullosa Simplex

A mutation in the mucosal keratin K4 is associated with oral white sponge nevus

A functional "knockout" of human keratin 14

A Novel Mutation in the Keratin 13 Gene Causing Oral White Sponge Nevus

A keratin 14 ‘knockout’ mutation in recessive epidermolysis bullosa simplex resulting in less severe disease

Telomere shortening: significant for keratinocyte grafting?

Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function

cDNA Cloning, Expression, and Assembly Characteristics of Mouse Keratin 16

Identification of two novel mutations in keratin 13 as the cause of white sponge naevus

Excitotoxic lesions of the pedunculopontine tegmental nucleus of the rat. II. Examination of eating and drinking, rotation, and reaching and grasping following unilateral ibotenate or quinolinate lesions

Excitotoxic lesions of the pedunculopontine tegmental nucleus of the rat. I. Comparison of the effects of various excitotoxins, with particular reference to the loss of immunohistochemically identified cholinergic neurons

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