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Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
medRxiv [Preprint]. 2024 Jan 26:2024.01.13.24301174. doi: 10.1101/2024.01.13.24301174.
medRxiv. 2024.
PMID: 38293138
Free PMC article.
Preprint.
Role of CAMK2D in neurodevelopment and associated conditions.
Rigter PMF, de Konink C, Dunn MJ, Proietti Onori M, Humberson JB, Thomas M, Barnes C, Prada CE, Weaver KN, Ryan TD, Caluseriu O, Conway J, Calamaro E, Fong CT, Wuyts W, Meuwissen M, Hordijk E, Jonkers CN, Anderson L, Yuseinova B, Polonia S, Beysen D, Stark Z, Savva E, Poulton C, McKenzie F, Bhoj E, Bupp CP, Bézieau S, Mercier S, Blevins A, Wentzensen IM, Xia F, Rosenfeld JA, Hsieh TC, Krawitz PM, Elbracht M, Veenma DCM, Schulman H, Stratton MM, Küry S, van Woerden GM.
Rigter PMF, et al. Among authors: de konink c.
Am J Hum Genet. 2024 Feb 1;111(2):364-382. doi: 10.1016/j.ajhg.2023.12.016. Epub 2024 Jan 24.
Am J Hum Genet. 2024.
PMID: 38272033
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PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Ebstein F, Küry S, Most V, Rosenfelt C, Scott-Boyer MP, van Woerden GM, Besnard T, Papendorf JJ, Studencka-Turski M, Wang T, Hsieh TC, Golnik R, Baldridge D, Forster C, de Konink C, Teurlings SMW, Vignard V, van Jaarsveld RH, Ades L, Cogné B, Mignot C, Deb W, Jongmans MCJ, Cole FS, van den Boogaard MH, Wambach JA, Wegner DJ, Yang S, Hannig V, Brault JA, Zadeh N, Bennetts B, Keren B, Gélineau AC, Powis Z, Towne M, Bachman K, Seeley A, Beck AE, Morrison J, Westman R, Averill K, Brunet T, Haasters J, Carter MT, Osmond M, Wheeler PG, Forzano F, Mohammed S, Trakadis Y, Accogli A, Harrison R, Guo Y, Hakonarson H, Rondeau S, Baujat G, Barcia G, Feichtinger RG, Mayr JA, Preisel M, Laumonnier F, Kallinich T, Knaus A, Isidor B, Krawitz P, Völker U, Hammer E, Droit A, Eichler EE, Elgersma Y, Hildebrand PW, Bolduc F, Krüger E, Bézieau S.
Ebstein F, et al. Among authors: de konink c.
Sci Transl Med. 2023 May 31;15(698):eabo3189. doi: 10.1126/scitranslmed.abo3189. Epub 2023 May 31.
Sci Transl Med. 2023.
PMID: 37256937
Free PMC article.
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Unexpected moves: a conformational change in MutSα enables high-affinity DNA mismatch binding.
Bruekner SR, Pieters W, Fish A, Liaci AM, Scheffers S, Rayner E, Kaldenbach D, Drost L, Dekker M, van Hees-Stuivenberg S, Delzenne-Goette E, de Konink C, Houlleberghs H, Dubbink HJ, AlSaegh A, de Wind N, Förster F, Te Riele H, Sixma TK.
Bruekner SR, et al. Among authors: de konink c.
Nucleic Acids Res. 2023 Feb 22;51(3):1173-1188. doi: 10.1093/nar/gkad015.
Nucleic Acids Res. 2023.
PMID: 36715327
Free PMC article.
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Loss of CAMK2G affects intrinsic and motor behavior but has minimal impact on cognitive behavior.
Rigter PMF, de Konink C, van Woerden GM.
Rigter PMF, et al. Among authors: de konink c.
Front Neurosci. 2023 Jan 6;16:1086994. doi: 10.3389/fnins.2022.1086994. eCollection 2022.
Front Neurosci. 2023.
PMID: 36685241
Free PMC article.
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The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.
van Woerden GM, Senden R, de Konink C, Trezza RA, Baban A, Bassetti JA, van Bever Y, Bird LM, van Bon BW, Brooks AS, Guan Q, Klee EW, Marcelis C, Rosado JM, Schimmenti LA, Shikany AR, Terhal PA, Nicole Weaver K, Wessels MW, van Wieringen H, Hurst AC, Gooch CF, Steindl K, Joset P, Rauch A, Tartaglia M, Niceta M, Elgersma Y, Demirdas S.
van Woerden GM, et al. Among authors: de konink c.
Hum Mutat. 2022 Oct;43(10):1377-1395. doi: 10.1002/humu.24425. Epub 2022 Jul 29.
Hum Mutat. 2022.
PMID: 35730652
Free PMC article.
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Pro-mutagenic effects of the gut microbiota in a Lynch syndrome mouse model.
Pieters W, Hugenholtz F, Kos K, Cammeraat M, Moliej TC, Kaldenbach D, Klarenbeek S, Davids M, Drost L, de Konink C, Delzenne-Goette E, de Visser KE, Te Riele H.
Pieters W, et al. Among authors: de konink c.
Gut Microbes. 2022 Jan-Dec;14(1):2035660. doi: 10.1080/19490976.2022.2035660.
Gut Microbes. 2022.
PMID: 35188867
Free PMC article.
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TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
van Woerden GM, Bos M, de Konink C, Distel B, Avagliano Trezza R, Shur NE, Barañano K, Mahida S, Chassevent A, Schreiber A, Erwin AL, Gripp KW, Rehman F, Brulleman S, McCormack R, de Geus G, Kalsner L, Sorlin A, Bruel AL, Koolen DA, Gabriel MK, Rossi M, Fitzpatrick DR, Wilkie AOM, Calpena E, Johnson D, Brooks A, van Slegtenhorst M, Fleischer J, Groepper D, Lindstrom K, Innes AM, Goodwin A, Humberson J, Noyes A, Langley KG, Telegrafi A, Blevins A, Hoffman J, Guillen Sacoto MJ, Juusola J, Monaghan KG, Punj S, Simon M, Pfundt R, Elgersma Y, Kleefstra T.
van Woerden GM, et al. Among authors: de konink c.
Hum Mutat. 2021 Apr;42(4):445-459. doi: 10.1002/humu.24176. Epub 2021 Mar 1.
Hum Mutat. 2021.
PMID: 33565190
Free PMC article.
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