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Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Am J Hum Genet. 2022 Apr 7;109(4):601-617. doi: 10.1016/j.ajhg.2022.03.002.
Am J Hum Genet. 2022.
PMID: 35395208
Free PMC article.
Intellectual disability-associated disruption of O-GlcNAc cycling impairs habituation learning in Drosophila.
Fenckova M, Muha V, Mariappa D, Catinozzi M, Czajewski I, Blok LER, Ferenbach AT, Storkebaum E, Schenck A, van Aalten DMF.
Fenckova M, et al. Among authors: blok ler.
PLoS Genet. 2022 May 2;18(5):e1010159. doi: 10.1371/journal.pgen.1010159. eCollection 2022 May.
PLoS Genet. 2022.
PMID: 35500025
Free PMC article.
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De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
Dias KR, Carlston CM, Blok LER, De Hayr L, Nawaz U, Evans CA, Bayrak-Toydemir P, Htun S, Zhu Y, Ma A, Lynch SA, Moorwood C, Stals K, Ellard S, Bainbridge MN, Friedman J, Pappas JG, Rabin R, Nowak CB, Douglas J, Wilson TE, Guillen Sacoto MJ, Mullegama SV, Palculict TB, Kirk EP, Pinner JR, Edwards M, Montanari F, Graziano C, Pippucci T, Dingmann B, Glass I, Mefford HC, Shimoji T, Suzuki T, Yamakawa K, Streff H, Schaaf CP, Slavotinek AM, Voineagu I, Carey JC, Buckley MF, Schenck A, Harvey RJ, Roscioli T.
Dias KR, et al. Among authors: blok ler.
Genet Med. 2022 Sep;24(9):1952-1966. doi: 10.1016/j.gim.2022.06.001. Epub 2022 Aug 1.
Genet Med. 2022.
PMID: 35916866
Free article.
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KDM5-mediated transcriptional activation of ribosomal protein genes alters translation efficiency to regulate mitochondrial metabolism in neurons.
Yheskel M, Hatch HAM, Pedrosa E, Terry BK, Siebels AA, Zheng XY, Blok LER, Fencková M, Sidoli S, Schenck A, Zheng D, Lachman HM, Secombe J.
Yheskel M, et al. Among authors: blok ler.
Nucleic Acids Res. 2024 Apr 10:gkae261. doi: 10.1093/nar/gkae261. Online ahead of print.
Nucleic Acids Res. 2024.
PMID: 38597673
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Habituation Learning Is a Widely Affected Mechanism in Drosophila Models of Intellectual Disability and Autism Spectrum Disorders.
Fenckova M, Blok LER, Asztalos L, Goodman DP, Cizek P, Singgih EL, Glennon JC, IntHout J, Zweier C, Eichler EE, von Reyn CR, Bernier RA, Asztalos Z, Schenck A.
Fenckova M, et al. Among authors: blok ler.
Biol Psychiatry. 2019 Aug 15;86(4):294-305. doi: 10.1016/j.biopsych.2019.04.029. Epub 2019 May 9.
Biol Psychiatry. 2019.
PMID: 31272685
Free PMC article.
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Promoter hypermethylation using 24-gene array in early head and neck cancer: better outcome in oral than in oropharyngeal cancer.
Noorlag R, van Kempen PM, Moelans CB, de Jong R, Blok LE, Koole R, Grolman W, van Diest PJ, van Es RJ, Willems SM.
Noorlag R, et al.
Epigenetics. 2014 Sep;9(9):1220-7. doi: 10.4161/epi.29785. Epub 2014 Jul 8.
Epigenetics. 2014.
PMID: 25147921
Free PMC article.
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Genetics, molecular control and clinical relevance of habituation learning.
Blok LER, Boon M, van Reijmersdal B, Höffler KD, Fenckova M, Schenck A.
Blok LER, et al.
Neurosci Biobehav Rev. 2022 Dec;143:104883. doi: 10.1016/j.neubiorev.2022.104883. Epub 2022 Sep 21.
Neurosci Biobehav Rev. 2022.
PMID: 36152842
Free article.
Review.
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Molecular signatures of the evolving immune response in mice following a Bordetella pertussis infection.
Raeven RH, Brummelman J, Pennings JL, Nijst OE, Kuipers B, Blok LE, Helm K, van Riet E, Jiskoot W, van Els CA, Han WG, Kersten GF, Metz B.
Raeven RH, et al.
PLoS One. 2014 Aug 19;9(8):e104548. doi: 10.1371/journal.pone.0104548. eCollection 2014.
PLoS One. 2014.
PMID: 25137043
Free PMC article.
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