An internal promoter underlies the difference in disease severity between N- and C-terminal truncation mutations of Titin in zebrafish

Autor: Jun Zou, Diana Tran, Mai Baalbaki, Ling Fung Tang, Annie Poon, Angelo Pelonero, Erron W Titus, Christiana Yuan, Chenxu Shi, Shruthi Patchava, Elizabeth Halper, Jasmine Garg, Irina Movsesyan, Chaoying Yin, Roland Wu, Lisa D Wilsbacher, Jiandong Liu, Ronald L Hager, Shaun R Coughlin, Martin Jinek, Clive R Pullinger, John P Kane, Daniel O Hart, Pui-Yan Kwok, Rahul C Deo

Publikováno v: eLife, Vol 4 (2015)

Truncating mutations in the giant sarcomeric protein Titin result in dilated cardiomyopathy and skeletal myopathy. The most severely affected dilated cardiomyopathy patients harbor Titin truncations in the C-terminal two-thirds of the protein, sugges

Externí odkaz: https://doaj.org/article/64ef752df04c4b96ab2dff639a70afb6

Inactivating mutations in Drosha mediate vascular abnormalities similar to hereditary hemorrhagic telangiectasia

Autor: Akiko Hata, Xuan Jiang, Daniel O. Hart, Jamie McDonald, Melissa Sandoval, Mai Baalbaki, Giorgio Lagna, Whitney Wooderchak-Donahue, Shaun R. Coughlin, Pinar Bayrak-Toydemir, Hilary Clay, Prajakta Ghatpande

Publikováno v: Science signaling, vol 11, iss 513
Jiang, Xuan; Wooderchak-Donahue, Whitney L; McDonald, Jamie; Ghatpande, Prajakta; Baalbaki, Mai; Sandoval, Melissa; et al.(2018). Inactivating mutations in Drosha mediate vascular abnormalities similar to hereditary hemorrhagic telangiectasia.. Science signaling, 11(513), eaan6831-eaan6831. doi: 10.1126/scisignal.aan6831. UCSF: Retrieved from: http://www.escholarship.org/uc/item/1mh2x7w0

The transforming growth factor–β (TGF-β) and bone morphogenetic protein (BMP) family of cytokines critically regulates vascular morphogenesis and homeostasis. Impairment of TGF-β or BMP signaling leads to heritable vascular disorders, including

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f93f32bb541c3db26147892261c6c90
https://escholarship.org/uc/item/1mh2x7w0

Transcriptional regulation by nuclear phosphoinositides

Autor: David Jones, Mai Baalbaki, Anna-Pavlina Haramis, Nullin Divecha, Yvette Stijf-Bultsma, Wolfgang Fischle, Daniel Hart, Panagiota Giardoglou, Lilly Sommer, Maria Tauber, Shannon Lauberth, Kathy Gelato

Publikováno v: The FASEB Journal. 29

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b1b1735a81034b280859a7a8b698fc68
https://doi.org/10.1096/fasebj.29.1_supplement.90.2