J M Bonifas
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Explore the profile of J M Bonifas including associated specialties, affiliations and a list of published articles.
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25
Citations
1763
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Recent Articles
1.
Xie J, Aszterbaum M, Zhang X, Bonifas J, Zachary C, Epstein E, et al.
Proc Natl Acad Sci U S A
. 2001 Aug;
98(16):9255-9.
PMID: 11481486
Activation of the hedgehog pathway, through the loss of patched (PTC) or the activation of smoothened (SMO), occurs frequently in basal cell carcinoma (BCC), the most common human cancer. However,...
2.
Bonifas J, Pennypacker S, Chuang P, McMahon A, Williams M, Rosenthal A, et al.
J Invest Dermatol
. 2001 May;
116(5):739-42.
PMID: 11348463
Mutations in hedgehog signaling pathway genes, especially PTC1 and SMO, are pivotal to the development of basal cell carcinomas. The study of basal cell carcinoma gene expression not only may...
3.
Smith F, Fisher M, Healy E, Rees J, Bonifas J, Epstein Jr E, et al.
Exp Dermatol
. 2000 Jun;
9(3):170-7.
PMID: 10839714
Pachyonychia congenita type 1 (PC-1) is an autosomal dominant ectodermal dysplasia characterized by nail dystrophy, focal non-epidermolytic palmoplantar keratoderma (FNEPPK) and oral lesions. We have previously shown that mutations in...
4.
Hu Z, Bonifas J, Beech J, Bench G, Shigihara T, Ogawa H, et al.
Nat Genet
. 1999 Dec;
24(1):61-5.
PMID: 10615129
Hailey-Hailey disease (HHD, MIM 16960) is inherited in an autosomal dominant manner and characterized by persistent blisters and erosions of the skin. Impaired intercellular adhesion and epidermal blistering also occur...
5.
Aszterbaum M, Rothman A, Johnson R, Fisher M, Xie J, Bonifas J, et al.
J Invest Dermatol
. 1998 Jun;
110(6):885-8.
PMID: 9620294
Mutations in PATCHED (PTC), the human homolog of the Drosophila patched gene, have been identified in most exons of the gene in patients with the basal cell nevus syndrome and...
6.
Xie J, Murone M, Luoh S, Ryan A, Gu Q, Zhang C, et al.
Nature
. 1998 Jan;
391(6662):90-2.
PMID: 9422511
Basal-cell carcinomas (BCCs) are the commonest human cancer. Insight into their genesis came from identification of mutations in the PATCHED gene (PTCH) in patients with the basal-cell nevus syndrome, a...
7.
Hu Z, Smith L, Martins S, Bonifas J, Chen H, Epstein Jr E
J Invest Dermatol
. 1997 Sep;
109(3):360-4.
PMID: 9284105
Epidermolysis bullosa simplex is a disease in which keratin gene mutations cause the production of defective intermediate filaments, which leads in turn to epidermal basal cell fragility and blistering. The...
8.
Oro A, Higgins K, Hu Z, Bonifas J, Epstein Jr E, Scott M
Science
. 1997 May;
276(5313):817-21.
PMID: 9115210
Mutations in the tumor suppressor gene PATCHED (PTC) are found in human patients with the basal cell nevus syndrome, a disease causing developmental defects and tumors, including basal cell carcinomas....
9.
Johnson R, Rothman A, Xie J, Goodrich L, Bare J, Bonifas J, et al.
Science
. 1996 Jun;
272(5268):1668-71.
PMID: 8658145
The basal cell nevus syndrome (BCNS) is characterized by developmental abnormalities and by the postnatal occurrence of cancers, especially basal cell carcinomas (BCCs), the most common human cancer. Heritable mutations...
10.
Peluso A, Bonifas J, Ikeda S, Hu Z, DeVries S, Waldman F, et al.
Genomics
. 1995 Nov;
30(1):77-80.
PMID: 8595906
Hailey-Hailey disease is a cutaneous abnormality transmitted as an autosomal dominant trait in which impaired interkeratinocyte adhesion produces recurrent blisters in characteristic skin sites. We report here a confirmation of...