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Constitutive and IFNgamma-induced activation of MHC2TA promoter type III in human melanoma cell lines is governed by separate regulatory elements within the PIII upstream regulatory region.
van der Stoep N, Quinten E, Alblas G, Plancke A, van Eggermond MC, Holling TM, van den Elsen PJ. van der Stoep N, et al. Among authors: plancke a. Mol Immunol. 2007 Mar;44(8):2036-46. doi: 10.1016/j.molimm.2006.09.013. Epub 2006 Oct 25. Mol Immunol. 2007. PMID: 17067677
A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus.
Chesneau B, Plancke A, Rolland G, Marcheix B, Dulac Y, Edouard T, Plaisancié J, Aubert-Mucca M, Julia S, Langeois M, Lavabre-Bertrand T, Khau Van Kien P. Chesneau B, et al. Among authors: plancke a. Mol Genet Genomic Med. 2021 Nov;9(11):e1814. doi: 10.1002/mgg3.1814. Epub 2021 Oct 21. Mol Genet Genomic Med. 2021. PMID: 34672437 Free PMC article.
Parental mosaicism in Marfan and Ehlers-Danlos syndromes and related disorders.
Chesneau B, Plancke A, Rolland G, Chassaing N, Coubes C, Brischoux-Boucher E, Edouard T, Dulac Y, Aubert-Mucca M, Lavabre-Bertrand T, Plaisancié J, Khau Van Kien P. Chesneau B, et al. Among authors: plancke a. Eur J Hum Genet. 2021 May;29(5):771-779. doi: 10.1038/s41431-020-00797-3. Epub 2021 Jan 7. Eur J Hum Genet. 2021. PMID: 33414558 Free PMC article.
Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature.
Chesneau B, Edouard T, Dulac Y, Colineaux H, Langeois M, Hanna N, Boileau C, Arnaud P, Chassaing N, Julia S, Jondeau G, Plancke A, Khau Van Kien P, Plaisancié J. Chesneau B, et al. Among authors: plancke a. Mol Genet Genomic Med. 2020 May;8(5):e1132. doi: 10.1002/mgg3.1132. Epub 2020 Mar 10. Mol Genet Genomic Med. 2020. PMID: 32154675 Free PMC article. Review.
Generation of a cohort of whole-torso cardiac models for assessing the utility of a novel computed shock vector efficiency metric for ICD optimisation.
Plancke AM, Connolly A, Gemmell PM, Neic A, McSpadden LC, Whitaker J, O'Neill M, Rinaldi CA, Rajani R, Niederer SA, Plank G, Bishop MJ. Plancke AM, et al. Comput Biol Med. 2019 Sep;112:103368. doi: 10.1016/j.compbiomed.2019.103368. Epub 2019 Jul 24. Comput Biol Med. 2019. PMID: 31352217 Free PMC article.
De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome.
Faivre L, Khau Van Kien P, Callier P, Ruiz-Pallares N, Baudoin C, Plancke A, Wolf JE, Thauvin-Robinet C, Durand E, Minot D, Dulieu V, Metaizeau JD, Leheup B, Coron F, Bidot S, Huet F, Jondeau G, Boileau C, Claustres M, Mugneret F. Faivre L, et al. Among authors: plancke a. Eur J Med Genet. 2010 Jul-Aug;53(4):208-12. doi: 10.1016/j.ejmg.2010.05.002. Epub 2010 May 15. Eur J Med Genet. 2010. PMID: 20478419
Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains.
Khau Van Kien P, Baux D, Pallares-Ruiz N, Baudoin C, Plancke A, Chassaing N, Collignon P, Drouin-Garraud V, Hovnanian A, Martin-Coignard D, Collod-Béroud G, Béroud C, Roux AF, Claustres M. Khau Van Kien P, et al. Among authors: plancke a. Hum Mutat. 2010 Jan;31(1):E1021-42. doi: 10.1002/humu.21131. Hum Mutat. 2010. PMID: 19802897 Free article.
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