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HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study.
Friez MJ, Brooks SS, Stevenson RE, Field M, Basehore MJ, Adès LC, Sebold C, McGee S, Saxon S, Skinner C, Craig ME, Murray L, Simensen RJ, Yap YY, Shaw MA, Gardner A, Corbett M, Kumar R, Bosshard M, van Loon B, Tarpey PS, Abidi F, Gecz J, Schwartz CE. Friez MJ, et al. Among authors: van loon b. BMJ Open. 2016 Apr 29;6(4):e009537. doi: 10.1136/bmjopen-2015-009537. BMJ Open. 2016. PMID: 27130160 Free PMC article.
Increased p53 signaling impairs neural differentiation in HUWE1-promoted intellectual disabilities.
Aprigliano R, Aksu ME, Bradamante S, Mihaljevic B, Wang W, Rian K, Montaldo NP, Grooms KM, Fordyce Martin SL, Bordin DL, Bosshard M, Peng Y, Alexov E, Skinner C, Liabakk NB, Sullivan GJ, Bjørås M, Schwartz CE, van Loon B. Aprigliano R, et al. Among authors: van loon b. Cell Rep Med. 2021 Apr 8;2(4):100240. doi: 10.1016/j.xcrm.2021.100240. eCollection 2021 Apr 20. Cell Rep Med. 2021. PMID: 33948573 Free PMC article.
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA. Moortgat S, et al. Among authors: van loon b. Eur J Hum Genet. 2018 Jan;26(1):64-74. doi: 10.1038/s41431-017-0038-6. Epub 2017 Nov 27. Eur J Hum Genet. 2018. PMID: 29180823 Free PMC article.
Genomic and functional integrity of the hematopoietic system requires tolerance of oxidative DNA lesions.
Martín-Pardillos A, Tsaalbi-Shtylik A, Chen S, Lazare S, van Os RP, Dethmers-Ausema A, Fakouri NB, Bosshard M, Aprigliano R, van Loon B, Salvatori DCF, Hashimoto K, Dingemanse-van der Spek C, Moriya M, Rasmussen LJ, de Haan G, Raaijmakers MHGP, de Wind N. Martín-Pardillos A, et al. Among authors: van os rp, van loon b. Blood. 2017 Sep 28;130(13):1523-1534. doi: 10.1182/blood-2017-01-764274. Epub 2017 Aug 21. Blood. 2017. PMID: 28827409 Free PMC article.
Alkyladenine DNA glycosylase associates with transcription elongation to coordinate DNA repair with gene expression.
Montaldo NP, Bordin DL, Brambilla A, Rösinger M, Fordyce Martin SL, Bjørås KØ, Bradamante S, Aas PA, Furrer A, Olsen LC, Kunath N, Otterlei M, Sætrom P, Bjørås M, Samson LD, van Loon B. Montaldo NP, et al. Among authors: van loon b. Nat Commun. 2019 Nov 29;10(1):5460. doi: 10.1038/s41467-019-13394-w. Nat Commun. 2019. PMID: 31784530 Free PMC article.
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