List of works - Jeannette M. Bonifas

A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375.

scientific article

A role of PDGFRalpha in basal cell carcinoma proliferation

scientific article

Activating Smoothened mutations in sporadic basal-cell carcinoma ⬇️

scientific article published on January 1, 1998

Activation of expression of hedgehog target genes in basal cell carcinomas

scientific article published on May 2001

Basal cell carcinomas in mice overexpressing sonic hedgehog

scientific article published on May 1997

Biochemical identification of alpha-fodrin and protein 4.1 in human keratinocytes

scientific article

Candidate gene isolation and comparative analysis of a commonly deleted segment of 7q22 implicated in myeloid malignancies

scientific article published in October 2001

Cholesterol Sulfotransferase of Newborn Mouse Epidermis ⬇️

scientific article published on 01 November 1984

Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis

scientific article

Detection of carriers for X-linked ichthyosis by Southern blot analysis and identification of one family with a de novo mutation

scientific article

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

scientific article published on November 22, 1991

Evidence against keratin gene mutations in a family with ichthyosis hystrix Curth-Macklin

scientific article published in December 1993

Evidence for lack of enhanced hedgehog target gene expression in common extracutaneous tumors.

scientific article published on March 2003

Genomic structure of the PIK3CG gene on chromosome band 7q22 and evaluation as a candidate myeloid tumor suppressor

scientific article published in January 2002

Glucocorticoid receptors of normal human epidermis

scientific article published on 01 February 1982

Hailey-Hailey disease is not allelic to Darier's disease

scientific article published in June 1994

Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5)

scientific article

Human homolog of patched, a candidate gene for the basal cell nevus syndrome

scientific article

Hyperactivation of protein kinase B and ERK have discrete effects on survival, proliferation, and cytokine expression in Nf1-deficient myeloid cells

scientific article published in December 2002

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

scientific article published on June 1, 1998

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

scientific article

Keratin 14 gene mutations in patients with epidermolysis bullosa simplex

scientific article

Linkage of the epidermolytic hyperkeratosis phenotype and the region of the type II keratin gene cluster on chromosome 12.

scientific article published in November 1992

MLL5, a homolog of Drosophila trithorax located within a segment of chromosome band 7q22 implicated in myeloid leukemia

scientific article

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

scientific article

Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis

scientific article

Mutations of Keratin 9 in Two Families with Palmoplantar Epidermolytic Hyperkeratosis ⬇️

scientific article published on October 1, 1994

Narrowing of the Hailey-Hailey disease gene region on chromosome 3q and identification of one kindred with a deletion in this region.

scientific article published in November 1995

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

scientific article

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

scientific article

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

scientific article published on September 1, 1997

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

scientific article published on 01 January 1985

Regional assignment of the human keratin 5 (KRT5) gene to chromosome 12q near D12S14 by PCR analysis of somatic cell hybrids and multicolor in situ hybridization

scientific article published on June 1992

Response and resistance to MEK inhibition in leukaemias initiated by hyperactive Ras

scientific article

Therapy-induced malignant neoplasms in Nf1 mutant mice.

scientific article

List of works by Jeannette M. Bonifas

A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375.

A role of PDGFRalpha in basal cell carcinoma proliferation

Activating Smoothened mutations in sporadic basal-cell carcinoma ⬇️

Activation of expression of hedgehog target genes in basal cell carcinomas

Basal cell carcinomas in mice overexpressing sonic hedgehog

Biochemical identification of alpha-fodrin and protein 4.1 in human keratinocytes

Candidate gene isolation and comparative analysis of a commonly deleted segment of 7q22 implicated in myeloid malignancies

Cholesterol Sulfotransferase of Newborn Mouse Epidermis ⬇️

Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis

Detection of carriers for X-linked ichthyosis by Southern blot analysis and identification of one family with a de novo mutation

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

Evidence against keratin gene mutations in a family with ichthyosis hystrix Curth-Macklin

Evidence for lack of enhanced hedgehog target gene expression in common extracutaneous tumors.

Genomic structure of the PIK3CG gene on chromosome band 7q22 and evaluation as a candidate myeloid tumor suppressor

Glucocorticoid receptors of normal human epidermis

Hailey-Hailey disease is not allelic to Darier's disease

Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5)

Human homolog of patched, a candidate gene for the basal cell nevus syndrome

Hyperactivation of protein kinase B and ERK have discrete effects on survival, proliferation, and cytokine expression in Nf1-deficient myeloid cells

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

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

Keratin 14 gene mutations in patients with epidermolysis bullosa simplex

Linkage of the epidermolytic hyperkeratosis phenotype and the region of the type II keratin gene cluster on chromosome 12.

MLL5, a homolog of Drosophila trithorax located within a segment of chromosome band 7q22 implicated in myeloid leukemia

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

Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis

Mutations of Keratin 9 in Two Families with Palmoplantar Epidermolytic Hyperkeratosis ⬇️

Narrowing of the Hailey-Hailey disease gene region on chromosome 3q and identification of one kindred with a deletion in this region.

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

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 ⬇️

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

Regional assignment of the human keratin 5 (KRT5) gene to chromosome 12q near D12S14 by PCR analysis of somatic cell hybrids and multicolor in situ hybridization

Response and resistance to MEK inhibition in leukaemias initiated by hyperactive Ras

Therapy-induced malignant neoplasms in Nf1 mutant mice.