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Mutations in ATP2C1 , encoding a calcium pump, cause Hailey-Hailey disease

Nature genetics, 2000-01, Vol.24 (1), p.61-65

2000

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Activating Smoothened mutations in sporadic basal-cell carcinoma

Nature (London), 1998-01, Vol.391 (6662), p.90-92

1998

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Identification of Mutations in the Human PATCHED Gene in Sporadic Basal Cell Carcinomas and in Patients with the Basal Cell Nevus Syndrome

Journal of investigative dermatology, 1998-06, Vol.110 (6), p.885-888

1998

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Basal Cell Carcinomas in Mice Overexpressing Sonic Hedgehog

Science (American Association for the Advancement of Science), 1997-05, Vol.276 (5313), p.817-821

1997

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Human Homolog of patched, a Candidate Gene for the Basal Cell Nevus Syndrome

Science (American Association for the Advancement of Science), 1996-06, Vol.272 (5268), p.1668-1671

1996

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Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene Abnormalities

Science (American Association for the Advancement of Science), 1991-11, Vol.254 (5035), p.1202-1205

1991

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Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma

Experimental dermatology, 2000-06, Vol.9 (3), p.170-177

2000

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A Role of PDGFRα in Basal Cell Carcinoma Proliferation

Proceedings of the National Academy of Sciences - PNAS, 2001-07, Vol.98 (16), p.9255-9259

2001

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Activation of Expression of Hedgehog Target Genes in Basal Cell Carcinomas

Journal of investigative dermatology, 2001-05, Vol.116 (5), p.739-742

2001

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Isolation and analysis of candidate myeloid tumor suppressor genes from a commonly deleted segment of 7q22

Genomics (San Diego, Calif.), 2005-05, Vol.85 (5), p.600-607

2005

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Cloning of a cDNA for Steroid Sulfatase: Frequent Occurrence of Gene Deletions in Patients with Recessive X Chromosome-Linked Ichthyosis

Proceedings of the National Academy of Sciences - PNAS, 1987-12, Vol.84 (24), p.9248-9251

1987

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Keratin 14 Gene Mutations in Patients with Epidermolysis Bullosa Simplex

Journal of investigative dermatology, 1995-10, Vol.105 (4), p.629-632

1995

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Parental origin of chromosome 9q22.3–q31 lost in basal cell carcinomas from basal cell nevus syndrome patients

Human molecular genetics, 1994-03, Vol.3 (3), p.447-448

1994

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Partial Dominance of a Keratin 14 Mutation in Epidermolysis Bullosa Simplex — Increased Severity of Disease in a Homozygote

Journal of investigative dermatology, 1997-09, Vol.109 (3), p.360-364

1997

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Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis

Blood, 2004-03, Vol.103 (6), p.2325-2331

2004

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Evidence Against Keratin Gene Mutations in a Family with Ichthyosis Hystrix Curth-Macklin

Journal of investigative dermatology, 1993-12, Vol.101 (6), p.890-891

1993

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Biochemical Identification of Alpha-Fodrin and Protein 4.1 in Human Keratinocytes

Journal of investigative dermatology, 1991-09, Vol.97 (3), p.383-388

1991

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Linkage of the Epidermolytic Hyperkeratosis Phenotype and the Region of the Type II Keratin Gene Cluster on Chromosome 12

Journal of investigative dermatology, 1992-11, Vol.99 (5), p.524-527

1992

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Recessive X-linked ichthyosis: lack of immunologically detectable steroid sulfatase enzyme protein

Human genetics, 1985-01, Vol.71 (3), p.201-205

1985

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Cholesterol Sulfotransferase of Newborn Mouse Epidermis

Journal of investigative dermatology, 1984-11, Vol.83 (5), p.332-335

1984

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Glucocorticoid Receptors of Normal Human Epidermis

Journal of investigative dermatology, 1982-02, Vol.78 (2), p.144-146

1982

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Narrowing of the Hailey–Hailey Disease Gene Region on Chromosome 3q and Identification of One Kindred with a Deletion in This Region

Genomics (San Diego, Calif.), 1995-11, Vol.30 (1), p.77-80

1995

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Hailey-Hailey Disease Is Not Allelic to Darier's Disease

Journal of investigative dermatology, 1994-06, Vol.102 (6), p.992-993

1994

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A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: ΔE375

Human molecular genetics, 1993-11, Vol.2 (11), p.1971-1972

1993

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Mutations of Keratin 9 in Two Families with Palmoplantar Epidermolytic Hyperkeratosis

Journal of investigative dermatology, 1994-10, Vol.103 (4), p.474-477

1994

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Mutations in ATP2C1 , encoding a calcium pump, cause Hailey-Hailey disease

Activating Smoothened mutations in sporadic basal-cell carcinoma

Identification of Mutations in the Human PATCHED Gene in Sporadic Basal Cell Carcinomas and in Patients with the Basal Cell Nevus Syndrome

Basal Cell Carcinomas in Mice Overexpressing Sonic Hedgehog

Human Homolog of patched, a Candidate Gene for the Basal Cell Nevus Syndrome

Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene Abnormalities

Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma

A Role of PDGFRα in Basal Cell Carcinoma Proliferation

Activation of Expression of Hedgehog Target Genes in Basal Cell Carcinomas

Isolation and analysis of candidate myeloid tumor suppressor genes from a commonly deleted segment of 7q22

Cloning of a cDNA for Steroid Sulfatase: Frequent Occurrence of Gene Deletions in Patients with Recessive X Chromosome-Linked Ichthyosis

Keratin 14 Gene Mutations in Patients with Epidermolysis Bullosa Simplex

Parental origin of chromosome 9q22.3–q31 lost in basal cell carcinomas from basal cell nevus syndrome patients

Partial Dominance of a Keratin 14 Mutation in Epidermolysis Bullosa Simplex — Increased Severity of Disease in a Homozygote

Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis

Evidence Against Keratin Gene Mutations in a Family with Ichthyosis Hystrix Curth-Macklin

Biochemical Identification of Alpha-Fodrin and Protein 4.1 in Human Keratinocytes

Linkage of the Epidermolytic Hyperkeratosis Phenotype and the Region of the Type II Keratin Gene Cluster on Chromosome 12

Recessive X-linked ichthyosis: lack of immunologically detectable steroid sulfatase enzyme protein

Cholesterol Sulfotransferase of Newborn Mouse Epidermis

Glucocorticoid Receptors of Normal Human Epidermis

Narrowing of the Hailey–Hailey Disease Gene Region on Chromosome 3q and Identification of One Kindred with a Deletion in This Region

Hailey-Hailey Disease Is Not Allelic to Darier's Disease

A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: ΔE375

Mutations of Keratin 9 in Two Families with Palmoplantar Epidermolytic Hyperkeratosis

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