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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.
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.
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.
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.
A SLM2 Feedback Pathway Controls Cortical Network Activity and Mouse Behavior.
Ehrmann I, Gazzara MR, Pagliarini V, Dalgliesh C, Kheirollahi-Chadegani M, Xu Y, Cesari E, Danilenko M, Maclennan M, Lowdon K, Vogel T, Keskivali-Bond P, Wells S, Cater H, Fort P, Santibanez-Koref M, Middei S, Sette C, Clowry GJ, Barash Y, Cunningham MO, Elliott DJ. Ehrmann I, et al. Among authors: xu y. Cell Rep. 2016 Dec 20;17(12):3269-3280. doi: 10.1016/j.celrep.2016.12.002. Cell Rep. 2016. PMID: 28009295 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.
Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing.
Engelhardt KR, Xu Y, Grainger A, Germani Batacchi MG, Swan DJ, Willet JD, Abd Hamid IJ, Agyeman P, Barge D, Bibi S, Jenkins L, Flood TJ, Abinun M, Slatter MA, Gennery AR, Cant AJ, Santibanez Koref M, Gilmour K, Hambleton S. Engelhardt KR, et al. Among authors: xu y. J Clin Immunol. 2017 Jan;37(1):42-50. doi: 10.1007/s10875-016-0343-9. Epub 2016 Nov 2. J Clin Immunol. 2017. PMID: 27807805 Free PMC article.
Astute Clinician Report: A Novel 10 bp Frameshift Deletion in Exon 2 of ICOS Causes a Combined Immunodeficiency Associated with an Enteritis and Hepatitis.
Robertson N, Engelhardt KR, Morgan NV, Barge D, Cant AJ, Hughes SM, Abinun M, Xu Y, Koref MS, Arkwright PD, Hambleton S. Robertson N, et al. Among authors: xu y. J Clin Immunol. 2015 Oct;35(7):598-603. doi: 10.1007/s10875-015-0193-x. Epub 2015 Sep 23. J Clin Immunol. 2015. PMID: 26399252 Free PMC article.
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