Further characterization of ATP6V0A2-related autosomal recessive cutis laxa-Reference-Cited by-同舟云学术

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

Published:2012-07-08 Issue:11 Volume:131 Page:1761-1773
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Fischer Björn,Dimopoulou Aikaterini,Egerer Johannes,Gardeitchik Thatjana,Kidd Alexa,Jost Dominik,Kayserili Hülya,Alanay Yasemin,Tantcheva-Poor Iliana,Mangold Elisabeth,Daumer-Haas Cornelia,Phadke Shubha,Peirano Reto I.,Heusel Julia,Desphande Charu,Gupta Neerja,Nanda Arti,Felix Emma,Berry-Kravis Elisabeth,Kabra Madhulika,Wevers Ron A.,van Maldergem Lionel,Mundlos Stefan,Morava Eva,Kornak Uwe

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-012-1197-8.pdf

Reference48 articles.

1. Albrecht B, de Brouwer AP, Lefeber DJ, Cremer K, Hausser I, Rossen N, Wortmann SB, Wevers RA, Kornak U, Morava E (2011) MACS syndrome: a combined collagen and elastin disorder due to abnormal Golgi trafficking. Am J Med Genet A 152A:2916–2918

2. Annes JP, Munger JS, Rifkin DB (2003) Making sense of latent TGFβ activation. J Cell Sci 116:217–224

3. Barzilay E, Ben-Califa N, Hirschberg K, Neumann D (2005) Uncoupling of brefeldin a-mediated coatomer protein complex-I dissociation from Golgi redistribution. Traffic 6:794–802. doi: 10.1111/j.1600-0854.2005.00317.x

4. Bascom CC, Wolfshohl JR, Coffey RJ Jr, Madisen L, Webb NR, Purchio AR, Derynck R, Moses HL (1989) Complex regulation of transforming growth factor beta 1, beta 2, and beta 3 mRNA expression in mouse fibroblasts and keratinocytes by transforming growth factors beta 1 and beta 2. Mol Cell Biol 9:5508–5515

5. Basel-Vanagaite L, Sarig O, Hershkovitz D, Fuchs-Telem D, Rapaport D, Gat A, Isman G, Shirazi I, Shohat M, Enk CD, Birk E, Kohlhase J, Matysiak-Scholze U, Maya I, Knopf C, Peffekoven A, Hennies HC, Bergman R, Horowitz M, Ishida-Yamamoto A, Sprecher E (2009) RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. Am J Hum Genet 85:254–263

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