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Page 1
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F. Braun DA, et al. Among authors: scharmann k. Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14. Nat Genet. 2017. PMID: 28805828 Free PMC article.
Absolute Quantification of Noncoding RNA by Microscale Thermophoresis.
Jacob D, Thüring K, Galliot A, Marchand V, Galvanin A, Ciftci A, Scharmann K, Stock M, Roignant JY, Leidel SA, Motorin Y, Schaffrath R, Klassen R, Helm M. Jacob D, et al. Among authors: scharmann k. Angew Chem Int Ed Engl. 2019 Jul 8;58(28):9565-9569. doi: 10.1002/anie.201814377. Epub 2019 May 2. Angew Chem Int Ed Engl. 2019. PMID: 30892798 Free PMC article.
Translational offsetting as a mode of estrogen receptor α-dependent regulation of gene expression.
Lorent J, Kusnadi EP, van Hoef V, Rebello RJ, Leibovitch M, Ristau J, Chen S, Lawrence MG, Szkop KJ, Samreen B, Balanathan P, Rapino F, Close P, Bukczynska P, Scharmann K, Takizawa I, Risbridger GP, Selth LA, Leidel SA, Lin Q, Topisirovic I, Larsson O, Furic L. Lorent J, et al. Among authors: scharmann k. EMBO J. 2019 Dec 2;38(23):e101323. doi: 10.15252/embj.2018101323. Epub 2019 Sep 26. EMBO J. 2019. PMID: 31556460 Free PMC article.