Zobrazeno 1 - 2
of 2
pro vyhledávání: '"MaKenna R. Browne"'
Autor:
Marie Bargiela, Janina Kueper, Arman T. Serebrakian, MaKenna R. Browne, Susan Brogna, Zachary S. Peacock, Branko Bojovic, Natalie D. Shaw, Eric C. Liao
Publikováno v:
Journal of Craniofacial Surgery. 34:849-854
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::00127ea19b8eace4096a3e7a1a2d2409
https://doi.org/10.1097/scs.0000000000009261
https://doi.org/10.1097/scs.0000000000009261
Autor:
Kaoru Inoue, Hamed Bostan, MaKenna R. Browne, Owen F. Bevis, Carl D. Bortner, Steven A. Moore, Aaron A. Stence, Negin P. Martin, Shih-Heng Chen, Adam B. Burkholder, Jian-Liang Li, Natalie D. Shaw
Publikováno v:
Science Advances. 9
SMCHD1 mutations cause congenital arhinia (absent nose) and a muscular dystrophy called FSHD2. In FSHD2, loss of SMCHD1 repressive activity causes expression of double homeobox 4 (DUX4) in muscle tissue, where it is toxic. Studies of arhinia patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bcf824f139670e435aa0d08790cf6e4c
https://doi.org/10.1126/sciadv.abq7744
https://doi.org/10.1126/sciadv.abq7744