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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Fountain MD, Oleson DS, Rech ME, Segebrecht L, Hunter JV, McCarthy JM, Lupo PJ, Holtgrewe M, Moran R, Rosenfeld JA, Isidor B, Le Caignec C, Saenz MS, Pedersen RC, Morgan TM, Pfotenhauer JP, Xia F, Bi W, Kang SL, Patel A, Krantz ID, Raible SE, Smith W, Cristian I, Torti E, Juusola J, Millan F, Wentzensen IM, Person RE, Küry S, Bézieau S, Uguen K, Férec C, Munnich A, van Haelst M, Lichtenbelt KD, van Gassen K, Hagelstrom T, Chawla A, Perry DL, Taft RJ, Jones M, Masser-Frye D, Dyment D, Venkateswaran S, Li C, Escobar LF, Horn D, Spillmann RC, Peña L, Wierzba J, Strom TM, Parenti I, Kaiser FJ, Ehmke N, Schaaf CP. Fountain MD, et al. Among authors: rech me. Genet Med. 2019 Aug;21(8):1797-1807. doi: 10.1038/s41436-019-0433-1. Epub 2019 Jan 25. Genet Med. 2019. PMID: 30679821 Free PMC article.
Magel2 Modulates Bone Remodeling and Mass in Prader-Willi Syndrome by Affecting Oleoyl Serine Levels and Activity.
Baraghithy S, Smoum R, Drori A, Hadar R, Gammal A, Hirsch S, Attar-Namdar M, Nemirovski A, Gabet Y, Langer Y, Pollak Y, Schaaf CP, Rech ME, Gross-Tsur V, Bab I, Mechoulam R, Tam J. Baraghithy S, et al. Among authors: rech me. J Bone Miner Res. 2019 Jan;34(1):93-105. doi: 10.1002/jbmr.3591. Epub 2018 Oct 22. J Bone Miner Res. 2019. PMID: 30347474 Free article.
Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity.
Chen CA, Wang W, Pedersen SE, Raman A, Seymour ML, Ruiz FR, Xia A, van der Heijden ME, Wang L, Yin J, Lopez J, Rech ME, Lewis RA, Wu SM, Liu Z, Pereira FA, Pautler RG, Zoghbi HY, Schaaf CP. Chen CA, et al. Among authors: rech me. Hum Mol Genet. 2020 Mar 27;29(5):705-715. doi: 10.1093/hmg/ddz233. Hum Mol Genet. 2020. PMID: 31600777 Free PMC article.
11 results