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Dysfunction of the MDM2/p53 axis is linked to premature aging.
J Clin Invest. 2017 Oct 2;127(10):3598-3608. doi: 10.1172/JCI92171. Epub 2017 Aug 28.
J Clin Invest. 2017.
PMID: 28846075
Free PMC article.
Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.
Lessel I, Chen MJ, Lüttgen S, Arndt F, Fuchs S, Meien S, Thiele H, Jones JR, Shaw BR, Crossman DK, Nürnberg P, Korf BR, Kubisch C, Lessel D.
Lessel I, et al.
Hum Genet. 2020 Apr;139(4):483-498. doi: 10.1007/s00439-019-02105-6. Epub 2020 Feb 13.
Hum Genet. 2020.
PMID: 32055997
Free PMC article.
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BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
Lessel D, Gehbauer C, Bramswig NC, Schluth-Bolard C, Venkataramanappa S, van Gassen KLI, Hempel M, Haack TB, Baresic A, Genetti CA, Funari MFA, Lessel I, Kuhlmann L, Simon R, Liu P, Denecke J, Kuechler A, de Kruijff I, Shoukier M, Lek M, Mullen T, Lüdecke HJ, Lerario AM, Kobbe R, Krieger T, Demeer B, Lebrun M, Keren B, Nava C, Buratti J, Afenjar A, Shinawi M, Guillen Sacoto MJ, Gauthier J, Hamdan FF, Laberge AM, Campeau PM, Louie RJ, Cathey SS, Prinz I, Jorge AAL, Terhal PA, Lenhard B, Wieczorek D, Strom TM, Agrawal PB, Britsch S, Tolosa E, Kubisch C.
Lessel D, et al. Among authors: lessel i.
Brain. 2018 Aug 1;141(8):2299-2311. doi: 10.1093/brain/awy173.
Brain. 2018.
PMID: 29985992
Free PMC article.
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Germline AGO2 mutations impair RNA interference and human neurological development.
Lessel D, Zeitler DM, Reijnders MRF, Kazantsev A, Hassani Nia F, Bartholomäus A, Martens V, Bruckmann A, Graus V, McConkie-Rosell A, McDonald M, Lozic B, Tan ES, Gerkes E, Johannsen J, Denecke J, Telegrafi A, Zonneveld-Huijssoon E, Lemmink HH, Cham BWM, Kovacevic T, Ramsdell L, Foss K, Le Duc D, Mitter D, Syrbe S, Merkenschlager A, Sinnema M, Panis B, Lazier J, Osmond M, Hartley T, Mortreux J, Busa T, Missirian C, Prasun P, Lüttgen S, Mannucci I, Lessel I, Schob C, Kindler S, Pappas J, Rabin R, Willemsen M, Gardeitchik T, Löhner K, Rump P, Dias KR, Evans CA, Andrews PI, Roscioli T, Brunner HG, Chijiwa C, Lewis MES, Jamra RA, Dyment DA, Boycott KM, Stegmann APA, Kubisch C, Tan EC, Mirzaa GM, McWalter K, Kleefstra T, Pfundt R, Ignatova Z, Meister G, Kreienkamp HJ.
Lessel D, et al. Among authors: lessel i.
Nat Commun. 2020 Nov 16;11(1):5797. doi: 10.1038/s41467-020-19572-5.
Nat Commun. 2020.
PMID: 33199684
Free PMC article.
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