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Nucleic Acids Research|March 3, 2026
TDG orchestrates ATF4-dependent gene transcription during retinoic acid-induced cell fate acquisitionMarion Turpin, Thierry Madigou, Maud Bizot, et al.Human Mutation|September 9, 2014
Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnosticsDiana Braunholz, Carolin Obieglo, Ilaria Parenti, et al.Plos Genetics|December 21, 2017
Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer elementJessica Zuin, Valentina Casa, Jelena Pozojevic, et al.Molecular and Cellular Biology|April 23, 2014
Dynamic estrogen receptor interactomes control estrogen-responsive trefoil Factor (TFF) locus cell-specific activitiesJustine Quintin, Christine Le Péron, Gaëlle Palierne, et al.Cell Reports|September 6, 2024
The cohesin ATPase cycle is mediated by specific conformational dynamics and interface plasticity of SMC1A and SMC3 ATPase domainsMarina Vitoria Gomes, Pauline Landwerlin, Marie-Laure Diebold-Durand, et al.The Journal of Biological Chemistry|November 17, 2024
Proteomic study identifies Aurora-A-mediated regulation of alternative splicing through multiple splicing factorsArun Prasath Damodaran, Olivia Gavard, Jean-Philippe Gagné, et al.Brain : a Journal of Neurology|December 4, 2018
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephalyArtem Kim, Clara Savary, Christèle Dubourg, et al.Cell Reports|May 21, 2020
MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange SyndromeIlaria Parenti, Farah Diab, Sara Ruiz Gil, et al.Human Genetics|January 26, 2017
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypesIlaria Parenti, María E Teresa-Rodrigo, Jelena Pozojevic, et al.Nature Communications|May 22, 2021
Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathologyYulia Kargapolova, Rizwan Rehimi, Hülya Kayserili, et al.Pageof 4