Confirmation of oxidative stress and fatty acid disturbances in two further Papillon-Lefèvre syndrome families with identification of a new mutation-Reference-Cited by-同舟云学术

Confirmation of oxidative stress and fatty acid disturbances in two further Papillon-Lefèvre syndrome families with identification of a new mutation

Published:2013-09-03 Issue:8 Volume:28 Page:1049-1056
ISSN:0926-9959
Container-title:Journal of the European Academy of Dermatology and Venereology
language:en
Short-container-title:J Eur Acad Dermatol Venereol

Author:

Bullón P.¹,Morillo J.M.¹,Thakker N.²,Veeramachaneni R.²,Quiles J.L.³,Ramírez-Tortosa M.C.⁴,Jaramillo R.¹,Battino M.⁵

Affiliation:

1. Department of Periodontology; Facultad de Odontología; University of Sevilla; Sevilla Spain

2. Department of Medical Genetics; University of Manchester; Manchester UK

3. Department of Physiology; Institute of Nutrition and Food Technology; University of Granada; Granada Spain

4. Department of Biochemistry and Molecular Biology II; Institute of Nutrition and Food Technology; University of Granada; Granada Spain

5. Dipartimento di Scienze Cliniche Specialistiche ed Odontostomatologiche, Sez. Biochimica; Università Politecnica delle Marche; Ancona Italy

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jdv.12265/fullpdf

Reference45 articles.

1. Dense cas de keratodermie palmaire et plantaire symetrique familiale (Maladie de Meleda) chez la frere et la soeur. Coexistence dans les deux cas d'alterations dentaires graves;Papillon;Bull Soc Fr Dermatol Syphilogr,1924

2. The syndrome of palmar-plantar hyperkeratosis and premature periodontal destruction of the teeth;Gorlin;J Pediatr,1964

3. Increased susceptibility to infections in the Papillon-Lefevre syndrome;Haneke;Dermatologica,1975

4. Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome;Hart;J Med Genet,1999

5. Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis;Toomes;Nat Genet,1999

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