Oxidative stress and mitochondrial dysfunction in Kindler syndrome-Reference-Cited by-同舟云学术

Oxidative stress and mitochondrial dysfunction in Kindler syndrome

Published:2014-12 Issue:1 Volume:9 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Zapatero-Solana Elisabeth,García-Giménez Jose Luis,Guerrero-Aspizua Sara,García Marta,Toll Agustí,Baselga Eulalia,Durán-Moreno Maria,Markovic Jelena,García-Verdugo Jose Manuel,Conti Claudio J,Has Cristina,Larcher Fernando,Pallardó Federico V,Del Rio Marcela

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-014-0211-8.pdf

Reference43 articles.

1. Lotem M, Raben M, Zeltser R, Landau M, Sela M, Wygoda M, Tochner ZA: Kindler syndrome complicated by squamous cell carcinoma of the hard palate: successful treatment with high-dose radiation therapy and granulocyte-macrophage colony-stimulating factor. Br J Dermatol. 2001, 144: 1284-1286. 10.1046/j.1365-2133.2001.04262.x.

2. Siegel DH, Ashton GH, Penagos HG, Lee JV, Feiler HS, Wilhelmsen KC, South AP, Smith FJ, Prescott AR, Wessagowit V, Oyama N, Akiyama M, Al Aboud D, Al Aboud K, Al Githami A, Al Hawsawi K, Al Ismaily A, Al-Suwaid R, Atherton DJ, Caputo R, Fine JD, Frieden IJ, Fuchs E, Haber RM, Harada T, Kitajima Y, Mallory SB, Ogawa H, Sahin S, Shimizu H, et al: Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet. 2003, 73: 174-187. 10.1086/376609.

3. Jobard F, Bouadjar B, Caux F, Hadj-Rabia S, Has C, Matsuda F, Weissenbach J, Lathrop M, Prud'homme JF, Fischer J: Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. Hum Mol Genet. 2003, 12: 925-935. 10.1093/hmg/ddg097.

4. Herz C, Aumailley M, Schulte C, Schlotzer-Schrehardt U, Bruckner-Tuderman L, Has C: Kindlin-1 is a phosphoprotein involved in regulation of polarity, proliferation, and motility of epidermal keratinocytes. J Biol Chem. 2006, 281: 36082-36090. 10.1074/jbc.M606259200.

5. Lai-Cheong JE, Tanaka A, Hawche G, Emanuel P, Maari C, Taskesen M, Akdeniz S, Liu L, McGrath JA: Kindler syndrome: a focal adhesion genodermatosis. Br J Dermatol. 2009, 160: 233-242. 10.1111/j.1365-2133.2008.08976.x.

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