PubMed (GeneRIF) for id: 89910

Year	Number of Results
2003	1
2007	1
2010	1
2012	1
2013	1
2014	1
2015	1
2016	2
2017	3
2018	1
2020	2
2023	1
2024	1

1

Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population.

Albakheet A, Almuallami D, Almass R, Qari A, Kenana R, AlQudairy H, Huma R, Binomar H, Wakil SM, Alowain M, Colak D, Kaya N, AlSayed MD. Albakheet A, et al. Clin Dysmorphol. 2024 Apr 1;33(2):55-62. doi: 10.1097/MCD.0000000000000486. Epub 2024 Feb 15. Clin Dysmorphol. 2024. PMID: 38410982

2

UBE3B promotes breast cancer progression by antagonizing HIF-2α degradation.

Wang Y, Liu X, Wang M, Wang Y, Wang S, Jin L, Liu M, Zhou J, Chen Y. Wang Y, et al. Oncogene. 2023 Nov;42(46):3394-3406. doi: 10.1038/s41388-023-02842-z. Epub 2023 Oct 2. Oncogene. 2023. PMID: 37783786

3

TRIB3 promotes MYC-associated lymphoma development through suppression of UBE3B-mediated MYC degradation.

Li K, Wang F, Yang ZN, Zhang TT, Yuan YF, Zhao CX, Yeerjiang Z, Cui B, Hua F, Lv XX, Zhang XW, Yu JJ, Liu SS, Yu JM, Shang S, Xiao Y, Hu ZW. Li K, et al. Nat Commun. 2020 Dec 9;11(1):6316. doi: 10.1038/s41467-020-20107-1. Nat Commun. 2020. PMID: 33298911 Free PMC article.

4

Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.

Zaki MS, Otaify GA, Ismail S, Issa MY, El-Ruby MO, Sadek AA, Ashaat EA, El Saeidi SA, Aglan MS, Temtamy S, Abdel-Hamid MS. Zaki MS, et al. Am J Med Genet A. 2020 Dec;182(12):2857-2866. doi: 10.1002/ajmg.a.61857. Epub 2020 Sep 19. Am J Med Genet A. 2020. PMID: 32949109

5

Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.

Yilmaz R, Szakszon K, Altmann A, Altunoglu U, Senturk L, McGuire M, Calabrese O, Madan-Khetarpal S, Basel-Vanagaite L, Borck G. Yilmaz R, et al. Am J Med Genet A. 2018 Jan;176(1):187-193. doi: 10.1002/ajmg.a.38538. Epub 2017 Nov 21. Am J Med Genet A. 2018. PMID: 29160006

6

Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.

Kariminejad A, Ajeawung NF, Bozorgmehr B, Dionne-Laporte A, Molidperee S, Najafi K, Gibbs RA, Lee BH, Hennekam RC, Campeau PM. Kariminejad A, et al. J Hum Genet. 2017 Apr;62(4):465-471. doi: 10.1038/jhg.2016.151. Epub 2016 Dec 22. J Hum Genet. 2017. PMID: 28003643 Free PMC article.

7

UBE3B Is a Calmodulin-regulated, Mitochondrion-associated E3 Ubiquitin Ligase.

Braganza A, Li J, Zeng X, Yates NA, Dey NB, Andrews J, Clark J, Zamani L, Wang XH, St Croix C, O'Sullivan R, Garcia-Exposito L, Brodsky JL, Sobol RW. Braganza A, et al. J Biol Chem. 2017 Feb 10;292(6):2470-2484. doi: 10.1074/jbc.M116.766824. Epub 2016 Dec 21. J Biol Chem. 2017. PMID: 28003368 Free PMC article.

8

Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.

Pedurupillay CR, Barøy T, Holmgren A, Blomhoff A, Vigeland MD, Sheng Y, Frengen E, Strømme P, Misceo D. Pedurupillay CR, et al. Am J Med Genet A. 2015 Mar;167A(3):657-63. doi: 10.1002/ajmg.a.36944. Am J Med Genet A. 2015. PMID: 25691420

9

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.

Basel-Vanagaite L, Yilmaz R, Tang S, Reuter MS, Rahner N, Grange DK, Mortenson M, Koty P, Feenstra H, Farwell Gonzalez KD, Sticht H, Boddaert N, Désir J, Anyane-Yeboa K, Zweier C, Reis A, Kubisch C, Jewett T, Zeng W, Borck G. Basel-Vanagaite L, et al. Hum Genet. 2014 Jul;133(7):939-49. doi: 10.1007/s00439-014-1436-2. Epub 2014 Mar 11. Hum Genet. 2014. PMID: 24615390

10

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome.

Flex E, Ciolfi A, Caputo V, Fodale V, Leoni C, Melis D, Bedeschi MF, Mazzanti L, Pizzuti A, Tartaglia M, Zampino G. Flex E, et al. J Med Genet. 2013 Aug;50(8):493-9. doi: 10.1136/jmedgenet-2012-101405. Epub 2013 May 17. J Med Genet. 2013. PMID: 23687348 Free PMC article.

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