Journal article
Four mutations in Epidermodysplasia verruciformis 1 ( EVER1) gene are not contributors to susceptibility in RRP
International journal of pediatric otorhinolaryngology, Vol.70(7), pp.1235-1240
2006
PMID: 16487602
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Epidermodysplasia verruciformis is a skin disease characterized by abnormal susceptibility to human papilloma viruses. Recently four mutations in the Epidermodysplasia verruciformis 1 gene (
EVER1, also known as
TMC6) have been associated with the disease. Because of the phenotypic similarity between Epidermodysplasia verruciformis and recurrent respiratory papillomatosis, we decided to investigate whether any of these mutations accounts for the susceptibility to human papilloma viruses in subjects with recurrent respiratory papillomatosis (RRP).
Allele-specific PCR and restriction fragment length polymorphisms (RFLPs) were employed for genotyping a cohort of 101 patients with recurrent respiratory papillomatosis.
None of these four mutations were found in the studied subjects.
The absence of these mutations in RRP patients might indicate that EVER 1 alleles are not associated with susceptibility to RRP, or that other, as yet unidentified, mutations in the Epidermodysplasia verruciformis 1 gene, might account for the susceptibility to RRP.
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Details
- Title
- Four mutations in Epidermodysplasia verruciformis 1 ( EVER1) gene are not contributors to susceptibility in RRP
- Creators
- Joseph Donfack - Allegheny General Hospital, Allegheny-Singer Research Institute, 320 East North Avenue, 11th Floor, South Tower, Room 1171, Pittsburgh, PA 15212-4772, United StatesFarrel J Buchinsky - Allegheny General Hospital, Allegheny-Singer Research Institute, 320 East North Avenue, 11th Floor, South Tower, Room 1171, Pittsburgh, PA 15212-4772, United StatesCraig S Derkay - Children's Hospital of the King's Daughters, Norfolk, VA, United StatesBettie M Steinberg - Long Island Jewish Medical Center and The Feinstein Institute for Medical Research, New Hyde Park, NY, United StatesSukgi S Choi - Children's National Medical Center, Washington, DC, United StatesStephen F Conley - Children's Hospital of Wisconsin, Milwaukee, WI, United StatesCharles M Meyer - Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United StatesJohn E McClay - Children's Medical Center of Dallas, Dallas, TX, United StatesPaolo Campisi - The Hospital for Sick Children, Toronto, Ont., CanadaFen Z Hu - Allegheny General Hospital, Allegheny-Singer Research Institute, 320 East North Avenue, 11th Floor, South Tower, Room 1171, Pittsburgh, PA 15212-4772, United StatesRobert A Preston - Allegheny General Hospital, Allegheny-Singer Research Institute, 320 East North Avenue, 11th Floor, South Tower, Room 1171, Pittsburgh, PA 15212-4772, United StatesAllan L Abramson - Long Island Jewish Medical Center and The Feinstein Institute for Medical Research, New Hyde Park, NY, United StatesGarth D Ehrlich - Allegheny General Hospital, Allegheny-Singer Research Institute, 320 East North Avenue, 11th Floor, South Tower, Room 1171, Pittsburgh, PA 15212-4772, United StatesJ. Christopher Post - Allegheny General Hospital, Allegheny-Singer Research Institute, 320 East North Avenue, 11th Floor, South Tower, Room 1171, Pittsburgh, PA 15212-4772, United States
- Publication Details
- International journal of pediatric otorhinolaryngology, Vol.70(7), pp.1235-1240
- Publisher
- Elsevier Ireland Ltd
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Otolaryngology (and Head and Neck Surgery); Microbiology and Immunology
- Identifiers
- 991014878495404721
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- Collaboration types
- Domestic collaboration
- International collaboration
- Web of Science research areas
- Otorhinolaryngology
- Pediatrics