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Integrated Functional Genomic Analysis Enables Annotation of Kidney Genome-Wide Association Study Loci.
Sieber KB, Batorsky A, Siebenthall K, Hudkins KL, Vierstra JD, Sullivan S, Sur A, McNulty M, Sandstrom R, Reynolds A, Bates D, Diegel M, Dunn D, Nelson J, Buckley M, Kaul R, Sampson MG, Himmelfarb J, Alpers CE, Waterworth D, Akilesh S. Sieber KB, et al. Among authors: mcnulty m. J Am Soc Nephrol. 2019 Mar;30(3):421-441. doi: 10.1681/ASN.2018030309. Epub 2019 Feb 13. J Am Soc Nephrol. 2019. PMID: 30760496 Free PMC article.
An eQTL Landscape of Kidney Tissue in Human Nephrotic Syndrome.
Gillies CE, Putler R, Menon R, Otto E, Yasutake K, Nair V, Hoover P, Lieb D, Li S, Eddy S, Fermin D, McNulty MT; Nephrotic Syndrome Study Network (NEPTUNE); Hacohen N, Kiryluk K, Kretzler M, Wen X, Sampson MG. Gillies CE, et al. Among authors: mcnulty mt. Am J Hum Genet. 2018 Aug 2;103(2):232-244. doi: 10.1016/j.ajhg.2018.07.004. Epub 2018 Jul 26. Am J Hum Genet. 2018. PMID: 30057032 Free PMC article.
APOL1 genotype-associated morphologic changes among patients with focal segmental glomerulosclerosis.
Zee J, McNulty MT, Hodgin JB, Zhdanova O, Hingorani S, Jefferson JA, Gibson KL, Trachtman H, Fornoni A, Dell KM, Reich HN, Bagnasco S, Greenbaum LA, Lafayette RA, Gipson DS, Brown E, Kretzler M, Appel G, Sambandam KK, Tuttle KR, Chen D, Atkinson MA, Hogan MC, Kaskel FJ, Meyers KE, O'Toole J, Srivastava T, Sethna CB, Hladunewich MA, Lin JJ, Nast CC, Derebail VK, Patel J, Vento S, Holzman LB, Athavale AM, Adler SG, Lemley KV, Lieske JC, Hogan JJ, Gadegbeku CA, Fervenza FC, Wang CS, Matar RB, Singer P, Kopp JB, Barisoni L, Sampson MG. Zee J, et al. Among authors: mcnulty mt. Pediatr Nephrol. 2021 Sep;36(9):2747-2757. doi: 10.1007/s00467-021-04990-4. Epub 2021 Mar 1. Pediatr Nephrol. 2021. PMID: 33646395 Free PMC article.
ADAR regulates APOL1 via A-to-I RNA editing by inhibition of MDA5 activation in a paradoxical biological circuit.
Riella CV, McNulty M, Ribas GT, Tattersfield CF, Perez-Gill C, Eichinger F, Kelly J, Chun J, Subramanian B, Guizelini D; Nephrotic Syndrome Study Network (NEPTUNE); Alper SL, Pollak MR, Sampson MG, Friedman DJ. Riella CV, et al. Among authors: mcnulty m. Proc Natl Acad Sci U S A. 2022 Nov;119(44):e2210150119. doi: 10.1073/pnas.2210150119. Epub 2022 Oct 25. Proc Natl Acad Sci U S A. 2022. PMID: 36282916 Free PMC article.
Uncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney.
Eales JM, Jiang X, Xu X, Saluja S, Akbarov A, Cano-Gamez E, McNulty MT, Finan C, Guo H, Wystrychowski W, Szulinska M, Thomas HB, Pramanik S, Chopade S, Prestes PR, Wise I, Evangelou E, Salehi M, Shakanti Y, Ekholm M, Denniff M, Nazgiewicz A, Eichinger F, Godfrey B, Antczak A, Glyda M, Król R, Eyre S, Brown J, Berzuini C, Bowes J, Caulfield M, Zukowska-Szczechowska E, Zywiec J, Bogdanski P, Kretzler M, Woolf AS, Talavera D, Keavney B, Maffia P, Guzik TJ, O'Keefe RT, Trynka G, Samani NJ, Hingorani A, Sampson MG, Morris AP, Charchar FJ, Tomaszewski M. Eales JM, et al. Among authors: mcnulty mt. Nat Genet. 2021 May;53(5):630-637. doi: 10.1038/s41588-021-00835-w. Epub 2021 May 6. Nat Genet. 2021. PMID: 33958779
Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome.
Barry A, McNulty MT, Jia X, Gupta Y, Debiec H, Luo Y, Nagano C, Horinouchi T, Jung S, Colucci M, Ahram DF, Mitrotti A, Sinha A, Teeninga N, Jin G, Shril S, Caridi G, Bodria M, Lim TY, Westland R, Zanoni F, Marasa M, Turudic D, Giordano M, Gesualdo L, Magistroni R, Pisani I, Fiaccadori E, Reiterova J, Maringhini S, Morello W, Montini G, Weng PL, Scolari F, Saraga M, Tasic V, Santoro D, van Wijk JAE, Milošević D, Kawai Y, Kiryluk K, Pollak MR, Gharavi A, Lin F, Simœs E Silva AC, Loos RJF, Kenny EE, Schreuder MF, Zurowska A, Dossier C, Ariceta G, Drozynska-Duklas M, Hogan J, Jankauskiene A, Hildebrandt F, Prikhodina L, Song K, Bagga A, Cheong H 2nd, Ghiggeri GM, Vachvanichsanong P, Nozu K, Lee D, Vivarelli M, Raychaudhuri S, Tokunaga K, Sanna-Cherchi S, Ronco P, Iijima K, Sampson MG. Barry A, et al. Among authors: mcnulty mt. Nat Commun. 2023 Apr 29;14(1):2481. doi: 10.1038/s41467-023-37985-w. Nat Commun. 2023. PMID: 37120605 Free PMC article.
Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome.
Jia X, Yamamura T, Gbadegesin R, McNulty MT, Song K, Nagano C, Hitomi Y, Lee D, Aiba Y, Khor SS, Ueno K, Kawai Y, Nagasaki M, Noiri E, Horinouchi T, Kaito H, Hamada R, Okamoto T, Kamei K, Kaku Y, Fujimaru R, Tanaka R, Shima Y; Research Consortium on Genetics of Childhood Idiopathic Nephrotic Syndrome in Japan; Baek J, Kang HG, Ha IS, Han KH, Yang EM; Korean Consortium of Hereditary Renal Diseases in Children; Abeyagunawardena A, Lane B, Chryst-Stangl M, Esezobor C, Solarin A; Midwest Pediatric Nephrology Consortium (Genetics of Nephrotic Syndrome Study Group); Dossier C, Deschênes G; NEPHROVIR; Vivarelli M, Debiec H, Ishikura K, Matsuo M, Nozu K, Ronco P, Cheong HI, Sampson MG, Tokunaga K, Iijima K. Jia X, et al. Among authors: mcnulty mt. Kidney Int. 2020 Nov;98(5):1308-1322. doi: 10.1016/j.kint.2020.05.029. Epub 2020 Jun 14. Kidney Int. 2020. PMID: 32554042 Free PMC article.
Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment.
Buerger F, Salmanullah D, Liang L, Gauntner V, Krueger K, Qi M, Sharma V, Rubin A, Ball D, Lemberg K, Saida K, Merz LM, Sever S, Issac B, Sun L, Guerrero-Castillo S; Nephrotic Syndrome Study Network (NEPTUNE); Gomez AC, McNulty MT, Sampson MG, Al-Hamed MH, Saleh MM, Shalaby M, Kari J, Fawcett JP, Hildebrandt F, Majmundar AJ. Buerger F, et al. Among authors: mcnulty mt. medRxiv [Preprint]. 2024 Mar 21:2024.03.17.24303374. doi: 10.1101/2024.03.17.24303374. medRxiv. 2024. PMID: 38562757 Free PMC article. Preprint.
452 results