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2010 2
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24 results

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Page 1
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 Free PMC article.
Formate overflow drives toxic folate trapping in MTHFD1 inhibited cancer cells.
Green AC, Marttila P, Kiweler N, Chalkiadaki C, Wiita E, Cookson V, Lesur A, Eiden K, Bernardin F, Vallin KSA, Borhade S, Long M, Ghahe EK, Jiménez-Alonso JJ, Jemth AS, Loseva O, Mortusewicz O, Meyers M, Viry E, Johansson AI, Hodek O, Homan E, Bonagas N, Ramos L, Sandberg L, Frödin M, Moussay E, Slipicevic A, Letellier E, Paggetti J, Sørensen CS, Helleday T, Henriksson M, Meiser J. Green AC, et al. Among authors: cookson v. Nat Metab. 2023 Apr;5(4):642-659. doi: 10.1038/s42255-023-00771-5. Epub 2023 Apr 3. Nat Metab. 2023. PMID: 37012496 Free PMC article.
Pharmacological targeting of MTHFD2 suppresses acute myeloid leukemia by inducing thymidine depletion and replication stress.
Bonagas N, Gustafsson NMS, Henriksson M, Marttila P, Gustafsson R, Wiita E, Borhade S, Green AC, Vallin KSA, Sarno A, Svensson R, Göktürk C, Pham T, Jemth AS, Loseva O, Cookson V, Kiweler N, Sandberg L, Rasti A, Unterlass JE, Haraldsson M, Andersson Y, Scaletti ER, Bengtsson C, Paulin CBJ, Sanjiv K, Abdurakhmanov E, Pudelko L, Kunz B, Desroses M, Iliev P, Färnegårdh K, Krämer A, Garg N, Michel M, Häggblad S, Jarvius M, Kalderén C, Jensen AB, Almlöf I, Karsten S, Zhang SM, Häggblad M, Eriksson A, Liu J, Glinghammar B, Nekhotiaeva N, Klingegård F, Koolmeister T, Martens U, Llona-Minguez S, Moulson R, Nordström H, Parrow V, Dahllund L, Sjöberg B, Vargas IL, Vo DD, Wannberg J, Knapp S, Krokan HE, Arvidsson PI, Scobie M, Meiser J, Stenmark P, Berglund UW, Homan EJ, Helleday T. Bonagas N, et al. Among authors: cookson v. Nat Cancer. 2022 Feb;3(2):156-172. doi: 10.1038/s43018-022-00331-y. Epub 2022 Feb 28. Nat Cancer. 2022. PMID: 35228749 Free PMC article.
NUDT22 promotes cancer growth through pyrimidine salvage.
Walter M, Mayr F, Hanna BMF, Cookson V, Mortusewicz O, Helleday T, Herr P. Walter M, et al. Among authors: cookson v. Oncogene. 2023 Apr;42(16):1282-1293. doi: 10.1038/s41388-023-02643-4. Epub 2023 Mar 4. Oncogene. 2023. PMID: 36871087 Free PMC article.
Biological heterogeneity in idiopathic pulmonary arterial hypertension identified through unsupervised transcriptomic profiling of whole blood.
Kariotis S, Jammeh E, Swietlik EM, Pickworth JA, Rhodes CJ, Otero P, Wharton J, Iremonger J, Dunning MJ, Pandya D, Mascarenhas TS, Errington N, Thompson AAR, Romanoski CE, Rischard F, Garcia JGN, Yuan JX, An TS, Desai AA, Coghlan G, Lordan J, Corris PA, Howard LS, Condliffe R, Kiely DG, Church C, Pepke-Zaba J, Toshner M, Wort S, Gräf S, Morrell NW, Wilkins MR, Lawrie A, Wang D; UK National PAH Cohort Study Consortium. Kariotis S, et al. Nat Commun. 2021 Dec 7;12(1):7104. doi: 10.1038/s41467-021-27326-0. Nat Commun. 2021. PMID: 34876579 Free PMC article.
Autoimmunity Is a Significant Feature of Idiopathic Pulmonary Arterial Hypertension.
Jones RJ, De Bie EMDD, Groves E, Zalewska KI, Swietlik EM, Treacy CM, Martin JM, Polwarth G, Li W, Guo J, Baxendale HE, Coleman S, Savinykh N, Coghlan JG, Corris PA, Howard LS, Johnson MK, Church C, Kiely DG, Lawrie A, Lordan JL, Mackenzie Ross RV, Pepke Zaba J, Wilkins MR, Wort SJ, Fiorillo E, Orrù V, Cucca F, Rhodes CJ, Gräf S, Morrell NW, McKinney EF, Wallace C, Toshner M; UK National Cohort Study of Idiopathic and Heritable PAH Consortium. Jones RJ, et al. Am J Respir Crit Care Med. 2022 Jul 1;206(1):81-93. doi: 10.1164/rccm.202108-1919OC. Am J Respir Crit Care Med. 2022. PMID: 35316153 Free PMC article.
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Aug;584(7819):E2. doi: 10.1038/s41586-020-2556-6. Nature. 2020. PMID: 32678341
Author Correction: Biological heterogeneity in idiopathic pulmonary arterial hypertension identified through unsupervised transcriptomic profiling of whole blood.
Kariotis S, Jammeh E, Swietlik EM, Pickworth JA, Rhodes CJ, Otero P, Wharton J, Iremonger J, Dunning MJ, Pandya D, Mascarenhas TS, Errington N, Thompson AAR, Romanoski CE, Rischard F, Garcia JGN, Yuan JX, An TS, Desai AA, Coghlan G, Lordan J, Corris PA, Howard LS, Condliffe R, Kiely DG, Church C, Pepke-Zaba J, Toshner M, Wort S, Gräf S, Morrell NW, Wilkins MR, Lawrie A, Wang D; UK National PAH Cohort Study Consortium. Kariotis S, et al. Nat Commun. 2022 Nov 25;13(1):7276. doi: 10.1038/s41467-022-33381-y. Nat Commun. 2022. PMID: 36433938 Free PMC article. No abstract available.
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
Ito Y, Carss KJ, Duarte ST, Hartley T, Keren B, Kurian MA, Marey I, Charles P, Mendonça C, Nava C, Pfundt R, Sanchis-Juan A, van Bokhoven H, van Essen A, van Ravenswaaij-Arts C; NIHR BioResource; Care4Rare Canada Consortium; Boycott KM, Kernohan KD, Dyack S, Raymond FL. Ito Y, et al. Am J Hum Genet. 2018 Jul 5;103(1):144-153. doi: 10.1016/j.ajhg.2018.06.001. Epub 2018 Jun 28. Am J Hum Genet. 2018. PMID: 29961568 Free PMC article.
24 results