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FHL1 is a major host factor for chikungunya virus infection.
Meertens L, Hafirassou ML, Couderc T, Bonnet-Madin L, Kril V, Kümmerer BM, Labeau A, Brugier A, Simon-Loriere E, Burlaud-Gaillard J, Doyen C, Pezzi L, Goupil T, Rafasse S, Vidalain PO, Bertrand-Legout A, Gueneau L, Juntas-Morales R, Ben Yaou R, Bonne G, de Lamballerie X, Benkirane M, Roingeard P, Delaugerre C, Lecuit M, Amara A. Meertens L, et al. Among authors: gueneau l. Nature. 2019 Oct;574(7777):259-263. doi: 10.1038/s41586-019-1578-4. Epub 2019 Sep 25. Nature. 2019. PMID: 31554973
FHL1 is a key player of chikungunya virus tropism and pathogenesis.
Meertens L, Hafirassou ML, Couderc T, Bonnet-Madin L, Kril V, Kümmerer BM, Labeau A, Brugier A, Simon-Loriere E, Burlaud-Gaillard J, Doyen C, Pezzi L, Goupil T, Rafasse S, Vidalain PO, Legout AB, Gueneau L, Juntas-Morales R, Yaou RB, Bonne G, de Lamballerie X, Benkirane M, Roingeard P, Delaugerre C, Lecuit M, Amara A. Meertens L, et al. Among authors: gueneau l. C R Biol. 2021 Apr 21;343(4):79-89. doi: 10.5802/crbiol.40. C R Biol. 2021. PMID: 33988325 Free article.
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
Gueneau L, Bertrand AT, Jais JP, Salih MA, Stojkovic T, Wehnert M, Hoeltzenbein M, Spuler S, Saitoh S, Verschueren A, Tranchant C, Beuvin M, Lacene E, Romero NB, Heath S, Zelenika D, Voit T, Eymard B, Ben Yaou R, Bonne G. Gueneau L, et al. Am J Hum Genet. 2009 Sep;85(3):338-53. doi: 10.1016/j.ajhg.2009.07.015. Epub 2009 Aug 27. Am J Hum Genet. 2009. PMID: 19716112 Free PMC article.
Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.
Malfatti E, Olivé M, Taratuto AL, Richard P, Brochier G, Bitoun M, Gueneau L, Laforêt P, Stojkovic T, Maisonobe T, Monges S, Lubieniecki F, Vasquez G, Streichenberger N, Lacène E, Saccoliti M, Prudhon B, Alexianu M, Figarella-Branger D, Schessl J, Bonnemann C, Eymard B, Fardeau M, Bonne G, Romero NB. Malfatti E, et al. Among authors: gueneau l. J Neuropathol Exp Neurol. 2013 Sep;72(9):833-45. doi: 10.1097/NEN.0b013e3182a23506. J Neuropathol Exp Neurol. 2013. PMID: 23965743 Free PMC article.
Heart involvement in lamin A/C related diseases.
Ben Yaou R, Gueneau L, Demay L, Stora S, Chikhaoui K, Richard P, Bonne G. Ben Yaou R, et al. Among authors: gueneau l. Arch Mal Coeur Vaiss. 2006 Sep;99(9):848-55. Arch Mal Coeur Vaiss. 2006. PMID: 17067107 Review.
Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.
Avila-Smirnow D, Gueneau L, Batonnet-Pichon S, Delort F, Bécane HM, Claeys K, Beuvin M, Goudeau B, Jais JP, Nelson I, Richard P, Ben Yaou R, Romero NB, Wahbi K, Mathis S, Voit T, Furst D, van der Ven P, Gil R, Vicart P, Fardeau M, Bonne G, Behin A. Avila-Smirnow D, et al. Among authors: gueneau l. Rev Neurol (Paris). 2016 Oct;172(10):594-606. doi: 10.1016/j.neurol.2016.07.017. Epub 2016 Sep 12. Rev Neurol (Paris). 2016. PMID: 27633507 Review.
A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity.
Friedrich FW, Dilanian G, Khattar P, Juhr D, Gueneau L, Charron P, Fressart V, Vilquin JT, Isnard R, Gouya L, Richard P, Hammoudi N, Komajda M, Bonne G, Eschenhagen T, Dubourg O, Villard E, Carrier L. Friedrich FW, et al. Among authors: gueneau l. Eur J Heart Fail. 2013 Mar;15(3):267-76. doi: 10.1093/eurjhf/hfs178. Epub 2012 Nov 14. Eur J Heart Fail. 2013. PMID: 23152444 Free article.
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
Carmignac V, Thevenon J, Adès L, Callewaert B, Julia S, Thauvin-Robinet C, Gueneau L, Courcet JB, Lopez E, Holman K, Renard M, Plauchu H, Plessis G, De Backer J, Child A, Arno G, Duplomb L, Callier P, Aral B, Vabres P, Gigot N, Arbustini E, Grasso M, Robinson PN, Goizet C, Baumann C, Di Rocco M, Sanchez Del Pozo J, Huet F, Jondeau G, Collod-Beroud G, Beroud C, Amiel J, Cormier-Daire V, Rivière JB, Boileau C, De Paepe A, Faivre L. Carmignac V, et al. Among authors: gueneau l. Am J Hum Genet. 2012 Nov 2;91(5):950-7. doi: 10.1016/j.ajhg.2012.10.002. Epub 2012 Oct 25. Am J Hum Genet. 2012. PMID: 23103230 Free PMC article.
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
Gueneau L, Fish RJ, Shamseldin HE, Voisin N, Tran Mau-Them F, Preiksaitiene E, Monroe GR, Lai A, Putoux A, Allias F, Ambusaidi Q, Ambrozaityte L, Cimbalistienė L, Delafontaine J, Guex N, Hashem M, Kurdi W, Jamuar SS, Ying LJ, Bonnard C, Pippucci T, Pradervand S, Roechert B, van Hasselt PM, Wiederkehr M, Wright CF; DDD Study; Xenarios I, van Haaften G, Shaw-Smith C, Schindewolf EM, Neerman-Arbez M, Sanlaville D, Lesca G, Guibaud L, Reversade B, Chelly J, Kučinskas V, Alkuraya FS, Reymond A. Gueneau L, et al. Am J Hum Genet. 2018 Jan 4;102(1):116-132. doi: 10.1016/j.ajhg.2017.12.002. Epub 2017 Dec 28. Am J Hum Genet. 2018. PMID: 29290337 Free PMC article.
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