A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis-Reference-Cited by-同舟云学术

A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis

Published:2017-02-16 Issue:1 Volume:7 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Zieba Jennifer,Zhang Wenjuan,Chong Jessica X.,Forlenza Kimberly N.,Martin Jorge H.,Heard Kelly,Grange Dorothy K.,Butler Merlin G.,Kleefstra Tjitske,Lachman Ralph S.,Nickerson Deborah,Regnier Michael,Cohn Daniel H.,Bamshad Michael,Krakow Deborah

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/srep41803.pdf

Reference31 articles.

1. Mitter, D., Krakow, D., Farrington-Rock, C. & Meinecke, P. Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father. Am J Med Genet A 146A, 779–83 (2008).

2. Krakow, D. et al. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet 36, 405–10 (2004).

3. Isidor, B. et al. Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity. Am J Med Genet A 146A, 1593–7 (2008).

4. Stossel, T. P. et al. Filamins as integrators of cell mechanics and signalling. Nat Rev Mol Cell Biol 2, 138–45 (2001).

5. Zieba, J. et al. TGFbeta and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral Fusions. PLoS Genet 12, e1005936 (2016).

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