A Collagen10a1 mutation disrupts cell polarity in a medaka model for metaphyseal chondrodysplasia type Schmid-Reference-Cited by-同舟云学术

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A Collagen10a1 mutation disrupts cell polarity in a medaka model for metaphyseal chondrodysplasia type Schmid

Published:2024-04 Issue:4 Volume:27 Page:109405
ISSN:2589-0042
Container-title:iScience
language:en
Short-container-title:iScience

Author:

Tan Wen Hui,Rücklin Martin,Larionova Daria,Ngoc Tran Bich,Joan van Heuven Bertie,Marone Federica,Matsudaira Paul,Winkler Christoph^ORCID

Funder

National Research Foundation Singapore

National University of Singapore

Government of Singapore Ministry of Education

Publisher

Elsevier BV

Reference93 articles.

1. Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia;Bateman;Hum. Mutat.,2005

2. Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients;Mäkitie;Am. J. Med. Genet.,2005

3. Carbamazepine reduces disease severity in a mouse model of metaphyseal chondrodysplasia type Schmid caused by a premature stop codon (Y632X) in the Col10a1 gene;Forouhan;Hum. Mol. Genet.,2018

4. Increased intracellular proteolysis reduces disease severity in an ER stress-associated dwarfism;Mullan;J. Clin. Invest.,2017

5. Type X collagen, a product of hypertrophic chondrocytes;Kielty;Biochem. J.,1985

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