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Induced pluripotent stem cell modelling of HLHS underlines the contribution of dysfunctional NOTCH signalling to impaired cardiogenesis.
Yang C, Xu Y, Yu M, Lee D, Alharti S, Hellen N, Ahmad Shaik N, Banaganapalli B, Sheikh Ali Mohamoud H, Elango R, Przyborski S, Tenin G, Williams S, O'Sullivan J, Al-Radi OO, Atta J, Harding SE, Keavney B, Lako M, Armstrong L. Yang C, et al. Among authors: xu y. Hum Mol Genet. 2017 Aug 15;26(16):3031-3045. doi: 10.1093/hmg/ddx140. Hum Mol Genet. 2017. PMID: 28521042 Free PMC article.
An Induced Pluripotent Stem Cell Patient Specific Model of Complement Factor H (Y402H) Polymorphism Displays Characteristic Features of Age-Related Macular Degeneration and Indicates a Beneficial Role for UV Light Exposure.
Hallam D, Collin J, Bojic S, Chichagova V, Buskin A, Xu Y, Lafage L, Otten EG, Anyfantis G, Mellough C, Przyborski S, Alharthi S, Korolchuk V, Lotery A, Saretzki G, McKibbin M, Armstrong L, Steel D, Kavanagh D, Lako M. Hallam D, et al. Among authors: xu y. Stem Cells. 2017 Nov;35(11):2305-2320. doi: 10.1002/stem.2708. Epub 2017 Oct 9. Stem Cells. 2017. PMID: 28913923 Free PMC article.
iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.
Melguizo-Sanchis D, Xu Y, Taheem D, Yu M, Tilgner K, Barta T, Gassner K, Anyfantis G, Wan T, Elango R, Alharthi S, El-Harouni AA, Przyborski S, Adam S, Saretzki G, Samarasinghe S, Armstrong L, Lako M. Melguizo-Sanchis D, et al. Among authors: xu y. Cell Death Dis. 2018 Jan 26;9(2):128. doi: 10.1038/s41419-017-0141-1. Cell Death Dis. 2018. PMID: 29374141 Free PMC article.
Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa.
Buskin A, Zhu L, Chichagova V, Basu B, Mozaffari-Jovin S, Dolan D, Droop A, Collin J, Bronstein R, Mehrotra S, Farkas M, Hilgen G, White K, Pan KT, Treumann A, Hallam D, Bialas K, Chung G, Mellough C, Ding Y, Krasnogor N, Przyborski S, Zwolinski S, Al-Aama J, Alharthi S, Xu Y, Wheway G, Szymanska K, McKibbin M, Inglehearn CF, Elliott DJ, Lindsay S, Ali RR, Steel DH, Armstrong L, Sernagor E, Urlaub H, Pierce E, Lührmann R, Grellscheid SN, Johnson CA, Lako M. Buskin A, et al. Among authors: xu y. Nat Commun. 2018 Oct 12;9(1):4234. doi: 10.1038/s41467-018-06448-y. Nat Commun. 2018. PMID: 30315276 Free PMC article.
Using population data for assessing next-generation sequencing performance.
Houniet DT, Rahman TJ, Al Turki S, Hurles ME, Xu Y, Goodship J, Keavney B, Santibanez Koref M. Houniet DT, et al. Among authors: xu y. Bioinformatics. 2015 Jan 1;31(1):56-61. doi: 10.1093/bioinformatics/btu606. Epub 2014 Sep 17. Bioinformatics. 2015. PMID: 25236458 Free PMC article.
An essential role for the Zn2+ transporter ZIP7 in B cell development.
Anzilotti C, Swan DJ, Boisson B, Deobagkar-Lele M, Oliveira C, Chabosseau P, Engelhardt KR, Xu X, Chen R, Alvarez L, Berlinguer-Palmini R, Bull KR, Cawthorne E, Cribbs AP, Crockford TL, Dang TS, Fearn A, Fenech EJ, de Jong SJ, Lagerholm BC, Ma CS, Sims D, van den Berg B, Xu Y, Cant AJ, Kleiner G, Leahy TR, de la Morena MT, Puck JM, Shapiro RS, van der Burg M, Chapman JR, Christianson JC, Davies B, McGrath JA, Przyborski S, Santibanez Koref M, Tangye SG, Werner A, Rutter GA, Padilla-Parra S, Casanova JL, Cornall RJ, Conley ME, Hambleton S. Anzilotti C, et al. Among authors: xu x, xu y. Nat Immunol. 2019 Mar;20(3):350-361. doi: 10.1038/s41590-018-0295-8. Epub 2019 Feb 4. Nat Immunol. 2019. PMID: 30718914 Free PMC article.
Human Tra2 proteins jointly control a CHEK1 splicing switch among alternative and constitutive target exons.
Best A, James K, Dalgliesh C, Hong E, Kheirolahi-Kouhestani M, Curk T, Xu Y, Danilenko M, Hussain R, Keavney B, Wipat A, Klinck R, Cowell IG, Cheong Lee K, Austin CA, Venables JP, Chabot B, Santibanez Koref M, Tyson-Capper A, Elliott DJ. Best A, et al. Among authors: xu y. Nat Commun. 2014 Sep 11;5:4760. doi: 10.1038/ncomms5760. Nat Commun. 2014. PMID: 25208576 Free PMC article.
A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.
Edwards N, Rice SJ, Raman S, Hynes AM, Srivastava S, Moore I, Al-Hamed M, Xu Y, Santibanez-Koref M, Thwaites DT, Gale DP, Sayer JA. Edwards N, et al. Among authors: xu y. Clin Kidney J. 2015 Feb;8(1):113-9. doi: 10.1093/ckj/sfu129. Epub 2014 Dec 5. Clin Kidney J. 2015. PMID: 25713721 Free PMC article.
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