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A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.
Jabara HH, Boyden SE, Chou J, Ramesh N, Massaad MJ, Benson H, Bainter W, Fraulino D, Rahimov F, Sieff C, Liu ZJ, Alshemmari SH, Al-Ramadi BK, Al-Dhekri H, Arnaout R, Abu-Shukair M, Vatsayan A, Silver E, Ahuja S, Davies EG, Sola-Visner M, Ohsumi TK, Andrews NC, Notarangelo LD, Fleming MD, Al-Herz W, Kunkel LM, Geha RS. Jabara HH, et al. Nat Genet. 2016 Jan;48(1):74-8. doi: 10.1038/ng.3465. Epub 2015 Dec 7. Nat Genet. 2016. PMID: 26642240 Free PMC article.
A nontranscriptional role for Oct4 in the regulation of mitotic entry.
Zhao R, Deibler RW, Lerou PH, Ballabeni A, Heffner GC, Cahan P, Unternaehrer JJ, Kirschner MW, Daley GQ. Zhao R, et al. Proc Natl Acad Sci U S A. 2014 Nov 4;111(44):15768-73. doi: 10.1073/pnas.1417518111. Epub 2014 Oct 16. Proc Natl Acad Sci U S A. 2014. PMID: 25324523 Free PMC article.
The Hippo transducer YAP1 transforms activated satellite cells and is a potent effector of embryonal rhabdomyosarcoma formation.
Tremblay AM, Missiaglia E, Galli GG, Hettmer S, Urcia R, Carrara M, Judson RN, Thway K, Nadal G, Selfe JL, Murray G, Calogero RA, De Bari C, Zammit PS, Delorenzi M, Wagers AJ, Shipley J, Wackerhage H, Camargo FD. Tremblay AM, et al. Cancer Cell. 2014 Aug 11;26(2):273-87. doi: 10.1016/j.ccr.2014.05.029. Epub 2014 Jul 31. Cancer Cell. 2014. PMID: 25087979 Free article.
29 results