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De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
Diets IJ, van der Donk R, Baltrunaite K, Waanders E, Reijnders MRF, Dingemans AJM, Pfundt R, Vulto-van Silfhout AT, Wiel L, Gilissen C, Thevenon J, Perrin L, Afenjar A, Nava C, Keren B, Bartz S, Peri B, Beunders G, Verbeek N, van Gassen K, Thiffault I, Cadieux-Dion M, Huerta-Saenz L, Wagner M, Konstantopoulou V, Vodopiutz J, Griese M, Boel A, Callewaert B, Brunner HG, Kleefstra T, Hoogerbrugge N, de Vries BBA, Hwa V, Dauber A, Hehir-Kwa JY, Kuiper RP, Jongmans MCJ. Diets IJ, et al. Among authors: boel a. Am J Hum Genet. 2019 Apr 4;104(4):758-766. doi: 10.1016/j.ajhg.2019.02.023. Epub 2019 Mar 28. Am J Hum Genet. 2019. PMID: 30929739 Free PMC article.
Cathepsin-L Secreted by High-Quality Bovine Embryos Exerts an Embryotrophic Effect In Vitro.
Raes A, Wydooghe E, Pavani KC, Bogado Pascottini O, Van Steendam K, Dhaenens M, Boel A, Heras S, Heindryckx B, Peelman L, Deforce D, Van Nieuwerburgh F, Opsomer G, Van Soom A, Smits K. Raes A, et al. Among authors: boel a. Int J Mol Sci. 2023 Mar 31;24(7):6563. doi: 10.3390/ijms24076563. Int J Mol Sci. 2023. PMID: 37047535 Free PMC article.
The Wnt/TCF7L1 transcriptional repressor axis drives primitive endoderm formation by antagonizing naive and formative pluripotency.
Athanasouli P, Balli M, De Jaime-Soguero A, Boel A, Papanikolaou S, van der Veer BK, Janiszewski A, Vanhessche T, Francis A, El Laithy Y, Nigro AL, Aulicino F, Koh KP, Pasque V, Cosma MP, Verfaillie C, Zwijsen A, Heindryckx B, Nikolaou C, Lluis F. Athanasouli P, et al. Among authors: boel a. Nat Commun. 2023 Mar 3;14(1):1210. doi: 10.1038/s41467-023-36914-1. Nat Commun. 2023. PMID: 36869101 Free PMC article.
Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects.
Boel A, Burger J, Vanhomwegen M, Beyens A, Renard M, Barnhoorn S, Casteleyn C, Reinhardt DP, Descamps B, Vanhove C, van der Pluijm I, Coucke P, Willaert A, Essers J, Callewaert B. Boel A, et al. Hum Mol Genet. 2020 Jun 3;29(9):1476-1488. doi: 10.1093/hmg/ddaa071. Hum Mol Genet. 2020. PMID: 32307537
99 results