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Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.
Sobreira N, Brucato M, Zhang L, Ladd-Acosta C, Ongaco C, Romm J, Doheny KF, Mingroni-Netto RC, Bertola D, Kim CA, Perez AB, Melaragno MI, Valle D, Meloni VA, Bjornsson HT. Sobreira N, et al. Among authors: zhang l. Eur J Hum Genet. 2017 Dec;25(12):1335-1344. doi: 10.1038/s41431-017-0023-0. Epub 2017 Nov 7. Eur J Hum Genet. 2017. PMID: 29255178 Free PMC article.
Kabuki syndrome stem cell models reveal locus specificity of histone methyltransferase 2D (KMT2D/MLL4).
Jefri M, Zhang X, Stumpf PS, Zhang L, Peng H, Hettige N, Theroux JF, Aouabed Z, Wilson K, Deshmukh S, Antonyan L, Ni A, Alsuwaidi S, Zhang Y, Jabado N, Garcia BA, Schuppert A, Bjornsson HT, Ernst C. Jefri M, et al. Among authors: zhang l, zhang x, zhang y. Hum Mol Genet. 2022 Oct 28;31(21):3715-3728. doi: 10.1093/hmg/ddac121. Hum Mol Genet. 2022. PMID: 35640156 Free PMC article.
SMYD5 is a regulator of the mild hypothermia response.
Rafnsdottir S, Jang K, Halldorsdottir ST, Vinod M, Tomasdottir A, Möller K, Halldorsdottir K, Reynisdottir T, Atladottir LH, Allison KE, Ostacolo K, He J, Zhang L, Northington FJ, Magnusdottir E, Chavez-Valdez R, Anderson KJ, Bjornsson HT. Rafnsdottir S, et al. Among authors: zhang l. bioRxiv [Preprint]. 2024 Jul 12:2023.05.11.540170. doi: 10.1101/2023.05.11.540170. bioRxiv. 2024. Update in: Cell Rep. 2024 Aug 27;43(8):114554. doi: 10.1016/j.celrep.2024.114554 PMID: 37333301 Free PMC article. Updated. Preprint.
KMT2D Deficiency Causes Sensorineural Hearing Loss in Mice and Humans.
Kalinousky AJ, Luperchio TR, Schrode KM, Harris JR, Zhang L, DeLeon VB, Fahrner JA, Lauer AM, Bjornsson HT. Kalinousky AJ, et al. Among authors: zhang l. Genes (Basel). 2023 Dec 28;15(1):48. doi: 10.3390/genes15010048. Genes (Basel). 2023. PMID: 38254937 Free PMC article.
134,029 results
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