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Page 1
An ADAR1 dsRBD3-PKR kinase domain interaction on dsRNA inhibits PKR activation.
Sinigaglia K, Cherian A, Du Q, Lacovich V, Vukić D, Melicherová J, Linhartova P, Zerad L, Stejskal S, Malik R, Prochazka J, Bondurand N, Sedláček R, O'Connell MA, Keegan LP. Sinigaglia K, et al. Among authors: bondurand n. Cell Rep. 2024 Aug 27;43(8):114618. doi: 10.1016/j.celrep.2024.114618. Epub 2024 Aug 14. Cell Rep. 2024. PMID: 39146181 Free article.
A 22q13.1 duplication in mosaicism including SOX10.
Bertani-Torres W, Serey-Gaut M, de Oliveira J, Bole C, Parisot M, Nistschké P, Maurin ML, Lapierre JM, Loundon N, Belhous K, Bondurand N, Marlin S, Pingault V. Bertani-Torres W, et al. Among authors: bondurand n. Am J Med Genet A. 2023 Dec;191(12):2813-2818. doi: 10.1002/ajmg.a.63362. Epub 2023 Aug 2. Am J Med Genet A. 2023. PMID: 37533297
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.
Le TL, Galmiche L, Levy J, Suwannarat P, Hellebrekers DM, Morarach K, Boismoreau F, Theunissen TE, Lefebvre M, Pelet A, Martinovic J, Gelot A, Guimiot F, Calleroz A, Gitiaux C, Hully M, Goulet O, Chardot C, Drunat S, Capri Y, Bole-Feysot C, Nitschké P, Whalen S, Mouthon L, Babcock HE, Hofstra R, de Coo IF, Tabet AC, Molina TJ, Keren B, Brooks A, Smeets HJ, Marklund U, Gordon CT, Lyonnet S, Amiel J, Bondurand N. Le TL, et al. Among authors: bondurand n. J Clin Invest. 2021 Mar 15;131(6):e145837. doi: 10.1172/JCI145837. J Clin Invest. 2021. PMID: 33497358 Free PMC article.
Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 missense mutation and presenting with deafness, depigmentation and progressive neurological impairment.
Banal C, Quelennec E, Bertani-Torres W, Gacem N, Amiel J, Marlin S, Petit F, Pingault V, Lefort N, Bondurand N. Banal C, et al. Among authors: bondurand n. Stem Cell Res. 2020 Oct;48:101936. doi: 10.1016/j.scr.2020.101936. Epub 2020 Aug 2. Stem Cell Res. 2020. PMID: 32795927 Free article.
LKB1 specifies neural crest cell fates through pyruvate-alanine cycling.
Radu AG, Torch S, Fauvelle F, Pernet-Gallay K, Lucas A, Blervaque R, Delmas V, Schlattner U, Lafanechère L, Hainaut P, Tricaud N, Pingault V, Bondurand N, Bardeesy N, Larue L, Thibert C, Billaud M. Radu AG, et al. Among authors: bondurand n. Sci Adv. 2019 Jul 17;5(7):eaau5106. doi: 10.1126/sciadv.aau5106. eCollection 2019 Jul. Sci Adv. 2019. PMID: 31328154 Free PMC article.
EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.
Issa S, Bondurand N, Faubert E, Poisson S, Lecerf L, Nitschke P, Deggouj N, Loundon N, Jonard L, David A, Sznajer Y, Blanchet P, Marlin S, Pingault V. Issa S, et al. Among authors: bondurand n. Hum Mutat. 2017 May;38(5):581-593. doi: 10.1002/humu.23206. Epub 2017 Mar 15. Hum Mutat. 2017. PMID: 28236341
48 results