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Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.
Nishiguchi KM, Tearle RG, Liu YP, Oh EC, Miyake N, Benaglio P, Harper S, Koskiniemi-Kuendig H, Venturini G, Sharon D, Koenekoop RK, Nakamura M, Kondo M, Ueno S, Yasuma TR, Beckmann JS, Ikegawa S, Matsumoto N, Terasaki H, Berson EL, Katsanis N, Rivolta C. Nishiguchi KM, et al. Among authors: rivolta c. Proc Natl Acad Sci U S A. 2013 Oct 1;110(40):16139-44. doi: 10.1073/pnas.1308243110. Epub 2013 Sep 16. Proc Natl Acad Sci U S A. 2013. PMID: 24043777 Free PMC article.
NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.
Segarra NG, Ballhausen D, Crawford H, Perreau M, Campos-Xavier B, van Spaendonck-Zwarts K, Vermeer C, Russo M, Zambelli PY, Stevenson B, Royer-Bertrand B, Rivolta C, Candotti F, Unger S, Munier FL, Superti-Furga A, Bonafé L. Segarra NG, et al. Among authors: rivolta c. Am J Med Genet A. 2015 Dec;167A(12):2902-12. doi: 10.1002/ajmg.a.37338. Epub 2015 Aug 19. Am J Med Genet A. 2015. PMID: 26286438
Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.
Royer-Bertrand B, Castillo-Taucher S, Moreno-Salinas R, Cho TJ, Chae JH, Choi M, Kim OH, Dikoglu E, Campos-Xavier B, Girardi E, Superti-Furga G, Bonafé L, Rivolta C, Unger S, Superti-Furga A. Royer-Bertrand B, et al. Among authors: rivolta c. Sci Rep. 2015 Nov 24;5:17154. doi: 10.1038/srep17154. Sci Rep. 2015. PMID: 26598328 Free PMC article.
232 results