A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder-Reference-Cited by-同舟云学术

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A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder

Published:2018-02-21 Issue:4 Volume:26 Page:582-586
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Morlino Silvia,Castori Marco,Dordoni Chiara,Cinquina Valeria,Santoro Graziano,Grammatico Paola,Venturini Marina,Colombi Marina,Ritelli Marco

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s41431-017-0079-x.pdf

Reference17 articles.

1. Landström M. The TAK1-TRAF6 signalling pathway. Int J Biochem Cell Biol. 2010;42:585–9.

2. Koitabashi N, Danner T, Zaiman AL, et al. Pivotal role of cardiomyocyte TGF-β signaling in the murine pathological response to sustained pressure overload. J Clin Invest. 2011;121:2301–12.

3. Morioka S, Inagaki M, Komatsu Y, Mishina Y, Matsumoto K, Ninomiya-Tsuji J. TAK1 kinase signaling regulates embryonic angiogenesis by modulating endothelial cell survival and migration. Blood. 2012;120:3846–57.

4. Besse A, Lamothe B, Campos AD, et al. TAK1-dependent signaling requires functional interaction with TAB2/TAB3. J Biol Chem. 2007;282:3918–28.

5. Morrison DK. MAP kinase pathways. Cold Spring Harb Perspect Biol. 2012;4:a011254. pii

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1. A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant;Human Genome Variation;2024-02-22

2. Mechanisms underlying sensing of cellular stress signals by mammalian MAP3 kinases;Molecular Cell;2024-01

3. TGF-β and BMP Signaling Pathways in Skeletal Dysplasia with Short and Tall Stature;Annual Review of Genomics and Human Genetics;2023-08-25

4. Early and severe tricuspid valve dysplasia in a fetus with cardiospondylocarpofacial syndrome due to a variant c.616T>G p.(Tyr206Asp) in MAP3K7;Prenatal Diagnosis;2023-05-20

5. Displasia frontometafisaria 2 asociada con deformidad torácica e hipertensión arterial pulmonar: a propósito de un caso y revisión bibliográfica;Archivos Argentinos de Pediatria;2022-12-01

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