GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts-Reference-Cited by-同舟云学术

GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts

Published:2015-09-16 Issue:23 Volume:24 Page:6769-6787
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Hum. Mol. Genet.

Author:

Zoppi Nicoletta,Chiarelli Nicola,Cinquina Valeria,Ritelli Marco,Colombi Marina

Funder

Telethon Foundation

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/24/23/6769/17262770/ddv382.pdf

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2. Three new families with arterial tortuosity syndrome;Wessels;Am. J. Med. Genet. A,2004

3. Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

4. Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome;Drera;Am. J. Med. Genet. A.,2007

5. Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

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