Citations for
1ALFSA, NBAS, RINT1
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.
Cousin MA, Conboy E, Wang JS, Lenz D, Schwab TL, Williams M, Abraham RS, Barnett S, El-Youssef M, Graham RP, Gutierrez Sanchez LH, Hasadsri L, Hoffmann GF, Hull NC, Kopajtich R, Kovacs-Nagy R, Li JQ, Marx-Berger D, McLin V, McNiven MA, Mounajjed T, Prokisch H, Rymen D, Schulze RJ, Staufner C, Yang Y, Clark KJ, Lanpher BC, Klee EW.
Am J Hum Genet 105(1):108-121. doi: 10.1016/j.ajhg.2019.05.011. Epub 2019 Jun 13. 2019
2NBAS, 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
3ILFS2, 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
4DHX34, 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
5DHX34, 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
6NBAS, 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
7NBAS, RINT1, USE1, ZW10
Identification of the neuroblastoma-amplified gene product as a component of the syntaxin 18 complex implicated in Golgi-to-endoplasmic reticulum retrograde transport.
Aoki T, Ichimura S, Itoh A, Kuramoto M, Shinkawa T, Isobe T, Tagaya M.
Mol Biol Cell 20(11):2639-49. doi: 10.1091/mbc.E08-11-1104. Epub 2009 Apr 15. 2009
8DDX1, 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
9NBAS
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
10MIPOL1, 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
11NBAS, 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
12NBAS
Co-amplification of a novel gene, NAG, with the N-myc gene in neuroblastoma.
Wimmer K, et al.
Oncogene 18(1):233-8. 1999