Frameshift variants in the C-terminal of CTNNB1 cause familial exudative vitreoretinopathy by AXIN1-mediated ubiquitin-proteasome degradation condensation-Reference-Cited by-同舟云学术

Frameshift variants in the C-terminal of CTNNB1 cause familial exudative vitreoretinopathy by AXIN1-mediated ubiquitin-proteasome degradation condensation

Published:2024-02 Issue: Volume:258 Page:128570
ISSN:0141-8130
Container-title:International Journal of Biological Macromolecules
language:en
Short-container-title:International Journal of Biological Macromolecules

Author:

Liu Yining,Yang Mu,Fan Lin,He Yunqi,Dai Erkuan,Liu Min,Jiang Lei,Yang Zhenglin,Li Shujin

Funder

Chinese Academy of Meteorological Sciences

Fundamental Research Funds for the Central Universities

Sichuan Province Science and Technology Support Program

Ministry of Education of the People's Republic of China

National Natural Science Foundation of China

Publisher

Elsevier BV

Subject

Molecular Biology,General Medicine,Biochemistry,Structural Biology

Reference52 articles.

1. Familial exudative vitreoretinopathy;Criswick;Am J. Ophthalmol.,1969

2. Clinical and genetical features of probands and affected family members with familial exudative vitreoretinopathy in a large Chinese cohort;Wang;Br. J. Ophthalmol.,2021

3. Early detection of ocular abnormalities in a Chinese multicentre neonatal eye screening programme-1-year result;Fei;Acta Ophthalmol.,2021

4. Next generation sequencing identifies mutations in atonal homolog 7 (ATOH7) in families with global eye developmental defects;Khan;Hum. Mol. Genet.,2012

5. A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13;Downey;Am. J. Hum. Genet.,2001

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