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Mutations in AQP5, Encoding a Water-Channel Protein, Cause Autosomal-Dominant Diffuse Nonepidermolytic Palmoplantar Keratoderma

American journal of human genetics, 2013-08, Vol.93 (2), p.330-335

2013

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Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris

Nature genetics, 2006-03, Vol.38 (3), p.337-342

2006

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Clinical and Pathological Features of Pachyonychia Congenita

The Journal of investigative dermatology symposium proceedings, 2005-10, Vol.10 (1), p.3-17

2005

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Novel ATP2A2 mutations in a large sample of individuals with Darier disease

Journal of dermatology, 2013-04, Vol.40 (4), p.259-266

2013

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trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation

Journal of cell science, 2001-06, Vol.114 (Pt 11), p.2105-2113

2001

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The Genetic Basis of Pachyonychia Congenita

JOURNAL OF INVESTIGATIVE DERMATOLOGY SYMPOSIUM PROCEEDINGS, 2005-10, Vol.10 (1), p.21-30

2005

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Hailey-Hailey Disease: Molecular and Clinical Characterization of Novel Mutations in the ATP2C1 Gene

Journal of investigative dermatology, 2002-02, Vol.118 (2), p.338-343

2002

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Hailey–Hailey Disease: Identification of Novel Mutations in ATP2C1 and Effect of Missense Mutation A528P on Protein Expression Levels

Journal of investigative dermatology, 2004-07, Vol.123 (1), p.67-71

2004

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Novel and Recurrent Mutations in the Genes Encoding Keratins K6a, K16 and K17 in 13 Cases of Pachyonychia Congenita

Journal of investigative dermatology, 2001-12, Vol.117 (6), p.1391-1396

2001

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Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease

Nature genetics, 1999-03, Vol.21 (3), p.271-277

1999

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Early Death from Cardiomyopathy in a Family with Autosomal Dominant Striate Palmoplantar Keratoderma and Woolly Hair Associated with a Novel Insertion Mutation in Desmoplakin

Journal of investigative dermatology, 2006-07, Vol.126 (7), p.1651-1654

2006

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A Missense Mutation in Connexin26, D66H, Causes Mutilating Keratoderma with Sensorineural Deafness (Vohwinkel's Syndrome) in Three Unrelated Families

Human molecular genetics, 1999-07, Vol.8 (7), p.1237-1243

1999

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Molecular genetics of the skin: the implications of understanding

Clinical medicine (London, England), 2009-12, Vol.9 (6), p.591-592

Munro, Colin S

2009

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Mutations in the SASPase Gene (ASPRV1) Are Not Associated with Atopic Eczema or Clinically Dry Skin

Journal of investigative dermatology, 2012-05, Vol.132 (5), p.1507-1510

2012

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Filaggrin Null Mutations Are Not a Protective Factor for Acne Vulgaris

Journal of investigative dermatology, 2011-06, Vol.131 (6), p.1378-1380

2011

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ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class

Human molecular genetics, 1999-09, Vol.8 (9), p.1621-1630

1999

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Mutations in the AAGAB gene, encoding alpha- and gamma-adaptin binding protein p34, cause punctate palmoplantar keratoderma type 1

Journal of dermatological science, 2013-02, Vol.69 (2), p.e53-e53

2013

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Epidermal mosaicism producing localised acne: somatic mutation in FGFR2

The Lancet (British edition), 1998-08, Vol.352 (9129), p.704-705

1998

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Heterozygous Null Alleles in Filaggrin Contribute to Clinical Dry Skin in Young Adults and the Elderly

Journal of investigative dermatology, 2009-04, Vol.129 (4), p.1042-1045

2009

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Two families with Greither's syndrome caused by a keratin 1 mutation

Journal of the American Academy of Dermatology, 2005-11, Vol.53 (5), p.S225-S230

2005

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Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family

European journal of human genetics : EJHG, 2000-02, Vol.8 (2), p.141-144

2000

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Mutant Loricrin is Not Crosslinked into the Cornified Cell Envelope but is Translocated into the Nucleus in Loricrin Keratoderma

Journal of investigative dermatology, 2000-12, Vol.115 (6), p.1088-1094

2000

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Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype

Journal of investigative dermatology, 1999-10, Vol.113 (4), p.607-612

1999

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Mutations in AQP5, Encoding a Water-Channel Protein, Cause Autosomal-Dominant Diffuse Nonepidermolytic Palmoplantar Keratoderma

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris

Clinical and Pathological Features of Pachyonychia Congenita

Novel ATP2A2 mutations in a large sample of individuals with Darier disease

trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation

The Genetic Basis of Pachyonychia Congenita

Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema

Hailey-Hailey Disease: Molecular and Clinical Characterization of Novel Mutations in the ATP2C1 Gene

Hailey–Hailey Disease: Identification of Novel Mutations in ATP2C1 and Effect of Missense Mutation A528P on Protein Expression Levels

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

Novel and Recurrent Mutations in the Genes Encoding Keratins K6a, K16 and K17 in 13 Cases of Pachyonychia Congenita

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease

Early Death from Cardiomyopathy in a Family with Autosomal Dominant Striate Palmoplantar Keratoderma and Woolly Hair Associated with a Novel Insertion Mutation in Desmoplakin

A Missense Mutation in Connexin26, D66H, Causes Mutilating Keratoderma with Sensorineural Deafness (Vohwinkel's Syndrome) in Three Unrelated Families

Molecular genetics of the skin: the implications of understanding

Mutations in the SASPase Gene (ASPRV1) Are Not Associated with Atopic Eczema or Clinically Dry Skin

Filaggrin Null Mutations Are Not a Protective Factor for Acne Vulgaris

ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class

Mutations in the AAGAB gene, encoding alpha- and gamma-adaptin binding protein p34, cause punctate palmoplantar keratoderma type 1

Epidermal mosaicism producing localised acne: somatic mutation in FGFR2

Heterozygous Null Alleles in Filaggrin Contribute to Clinical Dry Skin in Young Adults and the Elderly

Two families with Greither's syndrome caused by a keratin 1 mutation

Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family

Mutant Loricrin is Not Crosslinked into the Cornified Cell Envelope but is Translocated into the Nucleus in Loricrin Keratoderma

Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype

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