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Page 1
PIEZO2 and perineal mechanosensation are essential for sexual function.
Lam RM, von Buchholtz LJ, Falgairolle M, Osborne J, Frangos E, Servin-Vences MR, Nagel M, Nguyen MQ, Jayabalan M, Saade D, Patapoutian A, Bönnemann CG, Ryba NJP, Chesler AT. Lam RM, et al. Science. 2023 Aug 25;381(6660):906-910. doi: 10.1126/science.adg0144. Epub 2023 Aug 24. Science. 2023. PMID: 37616369 Free PMC article.
Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants.
Mohassel P, Chang N, Inoue K, Delaney A, Hu Y, Donkervoort S, Saade D, Billioux BJ, Meader B, Volochayev R, Konersman CG, Kaindl AM, Cho CH, Russell B, Rodriguez A, Foster KW, Foley AR, Moore SA, Jones PL, Bonnemann CG, Jones T, Shaw ND. Mohassel P, et al. Neurology. 2022 Mar 29;98(13):e1384-e1396. doi: 10.1212/WNL.0000000000200032. Epub 2022 Feb 4. Neurology. 2022. PMID: 35121673 Free PMC article.
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.
Bolduc V, Foley AR, Solomon-Degefa H, Sarathy A, Donkervoort S, Hu Y, Chen GS, Sizov K, Nalls M, Zhou H, Aguti S, Cummings BB, Lek M, Tukiainen T, Marshall JL, Regev O, Marek-Yagel D, Sarkozy A, Butterfield RJ, Jou C, Jimenez-Mallebrera C, Li Y, Gartioux C, Mamchaoui K, Allamand V, Gualandi F, Ferlini A, Hanssen E; COL6A1 Intron 11 Study Group; Wilton SD, Lamandé SR, MacArthur DG, Wagener R, Muntoni F, Bönnemann CG. Bolduc V, et al. JCI Insight. 2019 Mar 21;4(6):e124403. doi: 10.1172/jci.insight.124403. eCollection 2019 Mar 21. JCI Insight. 2019. PMID: 30895940 Free PMC article.
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.
Donkervoort S, Mohassel P, Laugwitz L, Zaki MS, Kamsteeg EJ, Maroofian R, Chao KR, Verschuuren-Bemelmans CC, Horber V, Fock AJM, McCarty RM, Jain MS, Biancavilla V, McMacken G, Nalls M, Voermans NC, Elbendary HM, Snyder M, Cai C, Lehky TJ, Stanley V, Iannaccone ST, Foley AR, Lochmüller H, Gleeson J, Houlden H, Haack TB, Horvath R, Bönnemann CG. Donkervoort S, et al. Am J Med Genet A. 2020 Oct;182(10):2272-2283. doi: 10.1002/ajmg.a.61765. Epub 2020 Aug 10. Am J Med Genet A. 2020. PMID: 32776697 Free PMC article.
Allele-specific CRISPR/Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy.
Bolduc V, Sizov K, Brull A, Esposito E, Chen GS, Uapinyoying P, Sarathy A, Johnson K, Bönnemann CG. Bolduc V, et al. bioRxiv [Preprint]. 2024 Mar 22:2024.03.22.586265. doi: 10.1101/2024.03.22.586265. bioRxiv. 2024. Update in: Mol Ther Nucleic Acids. 2024 Jul 16;35(3):102269. doi: 10.1016/j.omtn.2024.102269 PMID: 38585815 Free PMC article. Updated. Preprint.