Citations for
1NBAS, SOPH
NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.
Garcia Segarra N, 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.
Am J Med Genet A m J Med Genet A. 2015 Aug 19. doi: 10.1002/ajmg.a.37338. [Epub ahead of print] 2015
2ILFS2, NBAS
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.
Haack TB, Staufner C, Köpke MG, Straub BK, Kölker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Kühr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Zschocke J, Kremer LS, Graf E, Schwarzmayr T, Bader DM, Gagneur J, Wieland T, Terrile C, Strom TM, Meitinger T, Hoffmann GF, Prokisch H.
Am J Hum Genet 97(1):163-9. doi: 10.1016/j.ajhg.2015.05.009. Epub 2015 Jun 11. 2015
3DHX34, NBAS
DHX34 and NBAS form part of an autoregulatory NMD circuit that regulates endogenous RNA targets in human cells, zebrafish and Caenorhabditis elegans.
Longman D, Hug N, Keith M, Anastasaki C, Patton EE, Grimes G, Cáceres JF.
Nucleic Acids Res 41(17):8319-31. doi: 10.1093/nar/gkt585. Epub 2013 Jul 4. 2013
4DHX34, NBAS
Dhx34 and Nbas function in the NMD pathway and are required for embryonic development in zebrafish.
Anastasaki C, Longman D, Capper A, Patton EE, Cáceres JF.
Nucleic Acids Res 39(9):3686-94. doi: 10.1093/nar/gkq1319. Epub 2011 Jan 11. 2011
5NBAS, SOPH
Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly.
Maksimova N, Hara K, Nikolaeva I, Chun-Feng T, Usui T, Takagi M, Nishihira Y, Miyashita A, Fujiwara H, Oyama T, Nogovicina A, Sukhomyasova A, Potapova S, Kuwano R, Takahashi H, Nishizawa M, Onodera O.
J Med Genet 47(8):538-48. doi: 10.1136/jmg.2009.074815. Epub 2010 Jun 24. 2010
6DDX1, NBAS
Relationship of DDX1 and NAG gene amplification/overexpression to the prognosis of patients with MYCN-amplified neuroblastoma.
Kaneko S, Ohira M, Nakamura Y, Isogai E, Nakagawara A, Kaneko M.
J Cancer Res Clin Oncol 133(3):185-92. Epub 2006 Oct 7. 2007
7NBAS
The neuroblastoma amplified gene, NAG: genomic structure and characterisation of the 7.3 kb transcript predominantly expressed in neuroblastoma.
Scott DK, Board JR, Lu X, Pearson AD, Kenyon RM, Lunec J.
Gene 307:1-11. 2003
8MIPOL1, NBAS, TMIP
A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet.
Kondoh S, Sugawara H, Harada N, Matsumoto N, Ohashi H, Sato M, Kantaputra PN, Ogino T, Tomita H, Ohta T, Kishino T, Fukushima Y, Niikawa N, Yoshiura K.
J Hum Genet 47(3):136-9. 2002
9NBAS, TSG17E
Gene amplification in PNETs/medulloblastomas: mapping of a novel amplified gene within the MYCN amplicon.
Fruhwald MC, O'Dorisio MS, Rush LJ, Reiter JL, Smiraglia DJ, Wenger G, Costello JF, White PS, Krahe R, Brodeur GM, Plass C.
J Med Genet 37(7):501-9. 2000
10NBAS
Co-amplification of a novel gene, NAG, with the N-myc gene in neuroblastoma.
Wimmer K, et al.
Oncogene 18(1):233-8. 1999