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Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1

Experimental dermatology, 2002-04, Vol.11 (2), p.107-114

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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Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome

Nature genetics, 1997-10, Vol.17 (2), p.240-244

1997

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Haploinsufficiency of Desmoplakin Causes a Striate Subtype of Palmoplantar Keratoderma

Human molecular genetics, 1999-01, Vol.8 (1), p.143-148

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

Nature genetics, 1995-09, Vol.11 (1), p.83-86

1995

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Genomic organization and amplification of the human plakoglobin gene (JUP)

Experimental dermatology, 2000-10, Vol.9 (5), p.323-326

2000

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Striate Palmoplantar Keratoderma Resulting from Desmoplakin Haploinsufficiency

Journal of investigative dermatology, 1999-12, Vol.113 (6), p.940-946

1999

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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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Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1

British journal of dermatology (1951), 1999-02, Vol.140 (2), p.297-307

1999

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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

The American journal of pathology, 1996-06, Vol.148 (6), p.1787-1796

1996

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Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE)

Journal of investigative dermatology, 1994, Vol.102 (1), p.24-30

1994

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A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa

Human molecular genetics, 1994-09, Vol.3 (9), p.1693-1694

1994

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First trimester DNA-based exclusion of recessive dystrophic epidermolysis bullosa from chorionic villus sampling

British journal of dermatology (1951), 1996-04, Vol.134 (4), p.734-739

1996

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Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: Implications for prenatal diagnosis in one family

Prenatal diagnosis, 1995-07, Vol.15 (7), p.647-654

1995

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Characterization of a novel copper-haem c dissimilatory nitrite reductase from Ralstonia pickettii

Biochemical journal, 2012-06, Vol.444 (2), p.219-226

2012

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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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N-Terminal Deletion in a Desmosomal Cadherin Causes the Autosomal Dominant Skin Disease Striate Palmoplantar Keratoderma

Human molecular genetics, 1999-06, Vol.8 (6), p.971-976

1999

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Genomic analysis reveals widespread occurrence of new classes of copper nitrite reductases

Journal of biological inorganic chemistry, 2007-11, Vol.12 (8), p.1119-1127

2007

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Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis

American journal of human genetics, 2005-05, Vol.76 (5), p.794-803

2005

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Frameshift Mutation in the V2 Domain of Human Keratin 1 Results in Striate Palmoplantar Keratoderma

Journal of investigative dermatology, 2002-05, Vol.118 (5), p.838-844

2002

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X-ray structure of a blue-copper nitrite reductase in two crystal forms. The nature of the copper sites, mode of substrate binding and recognition by redox partner

Journal of molecular biology, 1998-09, Vol.282 (2), p.369-382

1998

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Novel Splice Site Mutation in Keratin 1 Underlies Mild Epidermolytic Palmoplantar Keratoderma in Three Kindreds

Journal of investigative dermatology, 2001-04, Vol.116 (4), p.606-609

2001

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Gene Targeting at the Mouse Cytokeratin 10 Locus: Severe Skin Fragility and Changes of Cytokeratin Expression in the Epidermis

The Journal of cell biology, 1996-03, Vol.132 (5), p.925-936

1996

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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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Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1

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

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome

Haploinsufficiency of Desmoplakin Causes a Striate Subtype of Palmoplantar Keratoderma

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

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

Genomic organization and amplification of the human plakoglobin gene (JUP)

Striate Palmoplantar Keratoderma Resulting from Desmoplakin Haploinsufficiency

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1

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

Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE)

A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa

First trimester DNA-based exclusion of recessive dystrophic epidermolysis bullosa from chorionic villus sampling

Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: Implications for prenatal diagnosis in one family

Characterization of a novel copper-haem c dissimilatory nitrite reductase from Ralstonia pickettii

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

N-Terminal Deletion in a Desmosomal Cadherin Causes the Autosomal Dominant Skin Disease Striate Palmoplantar Keratoderma

Genomic analysis reveals widespread occurrence of new classes of copper nitrite reductases

Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis

Frameshift Mutation in the V2 Domain of Human Keratin 1 Results in Striate Palmoplantar Keratoderma

X-ray structure of a blue-copper nitrite reductase in two crystal forms. The nature of the copper sites, mode of substrate binding and recognition by redox partner

Novel Splice Site Mutation in Keratin 1 Underlies Mild Epidermolytic Palmoplantar Keratoderma in Three Kindreds

Gene Targeting at the Mouse Cytokeratin 10 Locus: Severe Skin Fragility and Changes of Cytokeratin Expression in the Epidermis

A functional "knockout" of human keratin 14

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