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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C; Undiagnosed Diseases Network; Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B; GEM HUGO; Deciphering Developmental Disorders Study; Petrovski S, Retterer K… See abstract for full author list ➔ Küry S, et al. Among authors: distel b. Am J Hum Genet. 2017 Nov 2;101(5):768-788. doi: 10.1016/j.ajhg.2017.10.003. Am J Hum Genet. 2017. PMID: 29100089 Free PMC article.
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: distel b. 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.
Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome.
Avagliano Trezza R, Sonzogni M, Bossuyt SNV, Zampeta FI, Punt AM, van den Berg M, Rotaru DC, Koene LMC, Munshi ST, Stedehouder J, Kros JM, Williams M, Heussler H, de Vrij FMS, Mientjes EJ, van Woerden GM, Kushner SA, Distel B, Elgersma Y. Avagliano Trezza R, et al. Among authors: distel b. Nat Neurosci. 2019 Aug;22(8):1235-1247. doi: 10.1038/s41593-019-0425-0. Epub 2019 Jun 24. Nat Neurosci. 2019. PMID: 31235931
Transactions at the peroxisomal membrane.
Distel B, Braakman I, Elgersma Y, Tabak HF. Distel B, et al. Subcell Biochem. 2000;34:303-22. doi: 10.1007/0-306-46824-7_8. Subcell Biochem. 2000. PMID: 10808337 Review. No abstract available.
A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome.
Geerts-Haages A, Bossuyt SNV, den Besten I, Bruggenwirth H, van der Burgt I, Yntema HG, Punt AM, Brooks A, Elgersma Y, Distel B, Valstar M. Geerts-Haages A, et al. Among authors: distel b. Mol Genet Genomic Med. 2020 Nov;8(11):e1481. doi: 10.1002/mgg3.1481. Epub 2020 Sep 5. Mol Genet Genomic Med. 2020. PMID: 32889787 Free PMC article.
83 results