An ENU-induced splice site mutation of mouse Col1a1 causing recessive osteogenesis imperfecta and revealing a novel splicing rescue-Reference-Cited by-同舟云学术

An ENU-induced splice site mutation of mouse Col1a1 causing recessive osteogenesis imperfecta and revealing a novel splicing rescue

Published:2017-09-15 Issue:1 Volume:7 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Tabeta Koichi^ORCID,Du Xin,Arimatsu Kei,Yokoji Mai,Takahashi Naoki,Amizuka Norio,Hasegawa Tomoka,Crozat Karine,Maekawa Tomoki,Miyauchi Sayuri,Matsuda Yumi,Ida Takako,Kaku Masaru,Hoebe Kasper,Ohno Kinji,Yoshie Hiromasa,Yamazaki Kazuhisa,Moresco Eva Marie Y.,Beutler Bruce

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-017-10343-9.pdf

Reference41 articles.

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2. Marini, J. C. et al. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat 28, 209–221 (2007).

3. Van Dijk, F. S. & Sillence, D. O. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A 164A, 1470–1481 (2014).

4. Forlino, A., Cabral, W. A., Barnes, A. M. & Marini, J. C. New perspectives on osteogenesis imperfecta. Nat Rev Endocrinol 7, 540–557 (2011).

5. Bodian, D. L. et al. Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. Human molecular genetics 18, 463–471 (2009).

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