| Familial paroxysmal kinesigenic dyskinesia with a novel missense variant (Arg2866Trp) in NBEA. | Familial paroxysmal kinesigenic dyskinesia with a novel missense variant (Arg2866Trp) in NBEA.
Miura S, Shimojo T, Morikawa T, Kamada T, Uchiyama Y, Kurata S, Fujioka R, Shibata H. | 12/11/2021 |
| Our study suggests that rs180940944 (NBEA) is associated with an increased Non-muscle-invasive Bladder Cancer tumour size at the time of diagnosis | Genome-wide Association Study for Tumour Stage, Grade, Size, and Age at Diagnosis of Non-muscle-invasive Bladder Cancer.
Lipunova N, Wesselius A, Cheng KK, van Schooten FJ, Bryan RT, Cazier JB, Galesloot TE, Kiemeney LALM, Zeegers MP. | 05/30/2020 |
| We identified 24 de novo NBEA variants in patients with neurodevelopmental disease, establishing NBEA as an neurodevelopmental disease gene | NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
Mulhern MS, Stumpel C, Stong N, Brunner HG, Bier L, Lippa N, Riviello J, Rouhl RPW, Kempers M, Pfundt R, Stegmann APA, Kukolich MK, Telegrafi A, Lehman A, CAUSES study, Lopez-Rangel E, Houcinat N, Barth M, den Hollander N, Hoffer MJV, Weckhuysen S, EuroEPINOMICS-RES-MAE working group, Roovers J, Djemie T, Barca D, Ceulemans B, Craiu D, Lemke JR, Korff C, Mefford HC, Meyers CT, Siegler Z, Hiatt SM, Cooper GM, Bebin EM, Snijders Blok L, Veenstra-Knol HE, Baugh EH, Brilstra EH, Volker-Touw CML, van Binsbergen E, Revah-Politi A, Pereira E, McBrian D, Pacault M, Isidor B, Le Caignec C, Gilbert-Dussardier B, Bilan F, Heinzen EL, Goldstein DB, Stevens SJC, Sands TT., Free PMC Article | 08/24/2019 |
| NBEA encodes neurobeachin: we found no evidence of association in data from the GWAS migraine meta-analysis consortium (n=118,710 participants) suggesting that the association might be specific to migraine co-morbid with bipolar disorder. | Genome wide association study identifies variants in NBEA associated with migraine in bipolar disorder.
Jacobsen KK, Nievergelt CM, Zayats T, Greenwood TA, Anttila V, Akiskal HS, BiGS Consortium, IHG Consortium, Haavik J, Bernt Fasmer O, Kelsoe JR, Johansson S, Oedegaard KJ., Free PMC Article | 10/29/2016 |
| Data indicate that the PVT1-NBEA and the PVT1-WWOX chimeric genes were associated with the expression of abnormal NBEA and WWOX. | Frequent PVT1 rearrangement and novel chimeric genes PVT1-NBEA and PVT1-WWOX occur in multiple myeloma with 8q24 abnormality.
Nagoshi H, Taki T, Hanamura I, Nitta M, Otsuki T, Nishida K, Okuda K, Sakamoto N, Kobayashi S, Yamamoto-Sugitani M, Tsutsumi Y, Kobayashi T, Matsumoto Y, Horiike S, Kuroda J, Taniwaki M. | 12/22/2012 |
| Synapse associated protein 102 (SAP102) binds the C-terminal part of the scaffolding protein neurobeachin. | Synapse associated protein 102 (SAP102) binds the C-terminal part of the scaffolding protein neurobeachin.
Lauks J, Klemmer P, Farzana F, Karupothula R, Zalm R, Cooke NE, Li KW, Smit AB, Toonen R, Verhage M., Free PMC Article | 12/8/2012 |
| data obtained in mice and humans suggest that variation of Nbea abundance or activity critically affects body weight, presumably by influencing the activity of feeding-related neural circuits | Neurobeachin, a regulator of synaptic protein targeting, is associated with body fat mass and feeding behavior in mice and body-mass index in humans.
Olszewski PK, Rozman J, Jacobsson JA, Rathkolb B, Strömberg S, Hans W, Klockars A, Alsiö J, Risérus U, Becker L, Hölter SM, Elvert R, Ehrhardt N, Gailus-Durner V, Fuchs H, Fredriksson R, Wolf E, Klopstock T, Wurst W, Levine AS, Marcus C, de Angelis MH, Klingenspor M, Schiöth HB, Kilimann MW., Free PMC Article | 09/8/2012 |
| The NBEA gene at 13q13, and its expression are frequently disrupted in MM. | Neurobeachin (NBEA) is a target of recurrent interstitial deletions at 13q13 in patients with MGUS and multiple myeloma.
O'Neal J, Gao F, Hassan A, Monahan R, Barrios S, Kilimann MW, Lee I, Chng WJ, Vij R, Tomasson MH., Free PMC Article | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
Gratacòs M, Costas J, de Cid R, Bayés M, González JR, Baca-García E, de Diego Y, Fernández-Aranda F, Fernández-Piqueras J, Guitart M, Martín-Santos R, Martorell L, Menchón JM, Roca M, Sáiz-Ruiz J, Sanjuán J, Torrens M, Urretavizcaya M, Valero J, Vilella E, Estivill X, Carracedo A, Psychiatric Genetics Network Group. | 01/11/2009 |
| neurobeachin encoding gene is disrupted in a patient with a de novo translocation t(5;13) (q12.1;q13.2), idiopathic autism, and no family history of autism | The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism.
Castermans D, Wilquet V, Parthoens E, Huysmans C, Steyaert J, Swinnen L, Fryns JP, Van de Ven W, Devriendt K., Free PMC Article | 01/21/2010 |
| Structural analysis and biochemical studies show that the PH and BEACH domains have strong interactions, suggesting they may function as a single unit. | Crystal structure of the BEACH domain reveals an unusual fold and extensive association with a novel PH domain.
Jogl G, Shen Y, Gebauer D, Li J, Wiegmann K, Kashkar H, Krönke M, Tong L., Free PMC Article | 01/21/2010 |