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Page 1
FAT1 mutations cause a glomerulotubular nephropathy.
Gee HY, Sadowski CE, Aggarwal PK, Porath JD, Yakulov TA, Schueler M, Lovric S, Ashraf S, Braun DA, Halbritter J, Fang H, Airik R, Vega-Warner V, Cho KJ, Chan TA, Morris LG, ffrench-Constant C, Allen N, McNeill H, Büscher R, Kyrieleis H, Wallot M, Gaspert A, Kistler T, Milford DV, Saleem MA, Keng WT, Alexander SI, Valentini RP, Licht C, Teh JC, Bogdanovic R, Koziell A, Bierzynska A, Soliman NA, Otto EA, Lifton RP, Holzman LB, Sibinga NE, Walz G, Tufro A, Hildebrandt F. Gee HY, et al. Among authors: kyrieleis h. Nat Commun. 2016 Feb 24;7:10822. doi: 10.1038/ncomms10822. Nat Commun. 2016. PMID: 26905694 Free PMC article.
Phase 1/2 Study of Lumasiran for Treatment of Primary Hyperoxaluria Type 1: A Placebo-Controlled Randomized Clinical Trial.
Frishberg Y, Deschênes G, Groothoff JW, Hulton SA, Magen D, Harambat J, Van't Hoff WG, Lorch U, Milliner DS, Lieske JC, Haslett P, Garg PP, Vaishnaw AK, Talamudupula S, Lu J, Habtemariam BA, Erbe DV, McGregor TL, Cochat P; study collaborators. Frishberg Y, et al. Clin J Am Soc Nephrol. 2021 Jul;16(7):1025-1036. doi: 10.2215/CJN.14730920. Epub 2021 May 13. Clin J Am Soc Nephrol. 2021. PMID: 33985991 Free PMC article. Clinical Trial.
Targeted therapy with eculizumab for inherited CD59 deficiency.
Höchsmann B, Dohna-Schwake C, Kyrieleis HA, Pannicke U, Schrezenmeier H. Höchsmann B, et al. Among authors: kyrieleis ha. N Engl J Med. 2014 Jan 2;370(1):90-2. doi: 10.1056/NEJMc1308104. N Engl J Med. 2014. PMID: 24382084 No abstract available.
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly.
Lahrouchi N, George A, Ratbi I, Schneider R, Elalaoui SC, Moosa S, Bharti S, Sharma R, Abu-Asab M, Onojafe F, Adadi N, Lodder EM, Laarabi FZ, Lamsyah Y, Elorch H, Chebbar I, Postma AV, Lougaris V, Plebani A, Altmueller J, Kyrieleis H, Meiner V, McNeill H, Bharti K, Lyonnet S, Wollnik B, Henrion-Caude A, Berraho A, Hildebrandt F, Bezzina CR, Brooks BP, Sefiani A. Lahrouchi N, et al. Among authors: kyrieleis h. Nat Commun. 2019 Mar 12;10(1):1180. doi: 10.1038/s41467-019-08547-w. Nat Commun. 2019. PMID: 30862798 Free PMC article.