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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. Mulhern MS, et al. Ann Neurol. 2018 Nov;84(5):788-795. doi: 10.1002/ana.25350. Epub 2018 Oct 25. Ann Neurol. 2018. PMID: 30269351 Free PMC article.
NBEA is a candidate gene for autism, and de novo variants have been reported in neurodevelopmental disease (NDD) cohorts. ...We identified 24 de novo NBEA variants in patients with NDD, establishing NBEA as an NDD gene. ...
NBEA is a candidate gene for autism, and de novo variants have been reported in neurodevelopmental disease (NDD) cohorts. ...We ident …
The circRNA circ-Nbea participates in regulating diabetic encephalopathy.
Liu J, Deng Z, Yu Z, Zhou W, Yuan Q. Liu J, et al. Brain Res. 2022 Jan 1;1774:147702. doi: 10.1016/j.brainres.2021.147702. Epub 2021 Oct 22. Brain Res. 2022. PMID: 34695392
Three circRNAs were chosen for detection using quantitative real-time polymerase chain reaction (qRT-PCR), including circ-Smox (chr2: 131511984-131516443), circ-Nbea (mmu-chr3: 56079859-56091120), and circ-Setbp1 (chr18: 79086551-79087180), and circ-Nbea expression …
Three circRNAs were chosen for detection using quantitative real-time polymerase chain reaction (qRT-PCR), including circ-Smox (chr2: 131511 …
Coexistence of a novel NBEA-ALK, EML4-ALK double-fusion in a lung adenocarcinoma patient and response to alectinib: A case report.
Liang Q, Xu H, Liu Y, Zhang W, Sun C, Hu M, Zhu Y, Tan S, Xu X, Wang S, Liu L. Liang Q, et al. Lung Cancer. 2021 Dec;162:86-89. doi: 10.1016/j.lungcan.2021.10.015. Epub 2021 Nov 5. Lung Cancer. 2021. PMID: 34763158 Review.
Significantly, the liquid biopsy also validated clinical benefit, with the disappearance of NBEA-ALK and EML4-ALK fusion variants. We also provided a comprehensive review of all 50 ALK fusion genes in NSCLC. CONCLUSION: This is the first report on one patient with a novel …
Significantly, the liquid biopsy also validated clinical benefit, with the disappearance of NBEA-ALK and EML4-ALK fusion variants. We …
Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA.
Boulin T, Itani O, El Mouridi S, Leclercq-Blondel A, Gendrel M, Macnamara E, Soldatos A, Murphy JL, Gorman MP, Lindsey A, Shimada S, Turner D, Silverman GA, Baldridge D; Undiagnosed Diseases Network; Malicdan MC, Schedl T, Pak SC. Boulin T, et al. Mol Genet Metab. 2021 Sep-Oct;134(1-2):195-202. doi: 10.1016/j.ymgme.2021.07.013. Epub 2021 Aug 9. Mol Genet Metab. 2021. PMID: 34412939 Free PMC article.
Neurobeachin (NBEA) was initially identified as a candidate gene for autism. Recently, variants in NBEA have been associated with neurodevelopmental delay and childhood epilepsy. ...Our experimental data provide strong support for the molecular diagnosis and pathoge …
Neurobeachin (NBEA) was initially identified as a candidate gene for autism. Recently, variants in NBEA have been associated w …
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. O'Neal J, et al. Exp Hematol. 2009 Feb;37(2):234-44. doi: 10.1016/j.exphem.2008.10.014. Exp Hematol. 2009. PMID: 19135901 Free PMC article.
CONCLUSIONS: The NBEA gene at 13q13, and its expression are frequently disrupted in MM. Additional studies are warranted to evaluate the role of NBEA as a novel candidate tumor-suppressor gene....
CONCLUSIONS: The NBEA gene at 13q13, and its expression are frequently disrupted in MM. Additional studies are warranted to evaluate …
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. Miura S, et al. J Hum Genet. 2021 Aug;66(8):805-811. doi: 10.1038/s10038-021-00914-0. Epub 2021 Mar 10. J Hum Genet. 2021. PMID: 33692494
Whole exome sequencing combined with rigorous filtering revealed two heterozygous nonsynonymous variants (NM_001447: c.8976G > C [p.Gln2992His] in FAT2 and NM_015678: c.8596C > T [p.Arg2866Trp] in NBEA). Real time quantitative PCR analysis of Nbea mRNA levels …
Whole exome sequencing combined with rigorous filtering revealed two heterozygous nonsynonymous variants (NM_001447: c.8976G > C [p.Gln29 …
Coexistence of a novel STRN-ALK, NBEA-ALK double-fusion in an ovarian malignant mesothelioma patient: a case report and review.
Wu X, Wang Q, Xu X. Wu X, et al. Front Oncol. 2023 Apr 21;13:1156329. doi: 10.3389/fonc.2023.1156329. eCollection 2023. Front Oncol. 2023. PMID: 37152028 Free PMC article.
In this article, we describe the coexistence of a novel STRN-ALK, neurobeachin (NBEA)-ALK double-fusion in a patient with primary ovarian mesothelioma. ...The sequencing analysis identified STRN-ALK (intron3:intron19) and NBEA-ALK (intron1:intron16) double-ALK fusio …
In this article, we describe the coexistence of a novel STRN-ALK, neurobeachin (NBEA)-ALK double-fusion in a patient with primary ova …
Beneficial effects of the ketogenic diet on drug-resistant epileptic encephalopathy associated with a de novo NBEA pathogenic variant.
Schiavoni S, Spagnoli C, Rizzi S, Salerno GG, Frattini D, Pisani F, Fusco C. Schiavoni S, et al. Epileptic Disord. 2021 Oct 1;23(5):739-743. doi: 10.1684/epd.2021.1327. Epileptic Disord. 2021. PMID: 34609286
He also had developmental delay and prominent autistic features. Whole-exome sequencing (WES) disclosed a pathogenic NBEA c.5258_5279del, p.(Ala1753Valfs*13) variant, occurring de novo and a paternally-inherited heterozygous NBEA c.416T>C p....The patient showed …
He also had developmental delay and prominent autistic features. Whole-exome sequencing (WES) disclosed a pathogenic NBEA c.5258_5279 …
SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles.
Castermans D, Volders K, Crepel A, Backx L, De Vos R, Freson K, Meulemans S, Vermeesch JR, Schrander-Stumpel CT, De Rijk P, Del-Favero J, Van Geet C, Van De Ven WJ, Steyaert JG, Devriendt K, Creemers JW. Castermans D, et al. Hum Mol Genet. 2010 Apr 1;19(7):1368-78. doi: 10.1093/hmg/ddq013. Epub 2010 Jan 12. Hum Mol Genet. 2010. PMID: 20071347
One of these genes, SCAMP5 is silenced on the derivative chromosome, and encodes a brain-enriched protein involved in membrane trafficking, similar to the previously identified candidate genes NBEA and AMISYN. Gene silencing of Nbea, Amisyn and Scamp5 in mouse beta- …
One of these genes, SCAMP5 is silenced on the derivative chromosome, and encodes a brain-enriched protein involved in membrane trafficking, …
96 results