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iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells.
Mouka A, Arkoun B, Moison P, Drévillon L, Jarray R, Brisset S, Mayeur A, Bouligand J, Boland-Auge A, Deleuze JF, Yates F, Lemonnier T, Callier P, Duffourd Y, Nitschke P, Ollivier E, Bourdin A, De Vos J, Livera G, Tachdjian G, Maouche-Chrétien L, Tosca L. Mouka A, et al. Among authors: drevillon l. Sci Rep. 2022 Aug 22;12(1):14302. doi: 10.1038/s41598-022-17337-2. Sci Rep. 2022. PMID: 35995809 Free PMC article.
Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C.
Tosca L, Drévillon L, Mouka A, Lecerf L, Briand A, Ortonne V, Benoit V, Brisset S, Van Maldergem L, Laudouar Q, Heide S, Goossens M, Giurgea I, Tachdjian G, Métay C. Tosca L, et al. Among authors: drevillon l. Mol Genet Genomic Med. 2021 Nov;9(11):e1645. doi: 10.1002/mgg3.1645. Epub 2021 Sep 28. Mol Genet Genomic Med. 2021. PMID: 34582124 Free PMC article.
CSN5 binds to misfolded CFTR and promotes its degradation.
Tanguy G, Drévillon L, Arous N, Hasnain A, Hinzpeter A, Fritsch J, Goossens M, Fanen P. Tanguy G, et al. Among authors: drevillon l. Biochim Biophys Acta. 2008 Jun;1783(6):1189-99. doi: 10.1016/j.bbamcr.2008.01.010. Epub 2008 Jan 26. Biochim Biophys Acta. 2008. PMID: 18267124 Free article.
COMMD1-mediated ubiquitination regulates CFTR trafficking.
Drévillon L, Tanguy G, Hinzpeter A, Arous N, de Becdelièvre A, Aissat A, Tarze A, Goossens M, Fanen P. Drévillon L, et al. PLoS One. 2011 Mar 31;6(3):e18334. doi: 10.1371/journal.pone.0018334. PLoS One. 2011. PMID: 21483833 Free PMC article.
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
Whalen S, Héron D, Gaillon T, Moldovan O, Rossi M, Devillard F, Giuliano F, Soares G, Mathieu-Dramard M, Afenjar A, Charles P, Mignot C, Burglen L, Van Maldergem L, Piard J, Aftimos S, Mancini G, Dias P, Philip N, Goldenberg A, Le Merrer M, Rio M, Josifova D, Van Hagen JM, Lacombe D, Edery P, Dupuis-Girod S, Putoux A, Sanlaville D, Fischer R, Drévillon L, Briand-Suleau A, Metay C, Goossens M, Amiel J, Jacquette A, Giurgea I. Whalen S, et al. Among authors: drevillon l. Hum Mutat. 2012 Jan;33(1):64-72. doi: 10.1002/humu.21639. Epub 2011 Nov 23. Hum Mutat. 2012. PMID: 22045651
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