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Whole genome sequencing of a family with autosomal dominant features within the oculoauriculovertebral spectrum.
Petrin AL, Machado-Paula LA, Hinkle A, Hovey L, Awotoye W, Chimenti M, Darbro B, Ribeiro-Bicudo LA, Dabdoub SM, Peter T, Breheny P, Murray J, Van Otterloo E, Rengasamy Venugopalan S, Moreno-Uribe LM. Petrin AL, et al. Among authors: van otterloo e. medRxiv [Preprint]. 2024 Jul 15:2024.02.07.24301824. doi: 10.1101/2024.02.07.24301824. medRxiv. 2024. PMID: 38370836 Free PMC article. Preprint.
A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway.
Praetorius C, Grill C, Stacey SN, Metcalf AM, Gorkin DU, Robinson KC, Van Otterloo E, Kim RS, Bergsteinsdottir K, Ogmundsdottir MH, Magnusdottir E, Mishra PJ, Davis SR, Guo T, Zaidi MR, Helgason AS, Sigurdsson MI, Meltzer PS, Merlino G, Petit V, Larue L, Loftus SK, Adams DR, Sobhiafshar U, Emre NC, Pavan WJ, Cornell R, Smith AG, McCallion AS, Fisher DE, Stefansson K, Sturm RA, Steingrimsson E. Praetorius C, et al. Among authors: van otterloo e. Cell. 2013 Nov 21;155(5):1022-33. doi: 10.1016/j.cell.2013.10.022. Cell. 2013. PMID: 24267888 Free PMC article.
TFAP2 paralogs regulate melanocyte differentiation in parallel with MITF.
Seberg HE, Van Otterloo E, Loftus SK, Liu H, Bonde G, Sompallae R, Gildea DE, Santana JF, Manak JR, Pavan WJ, Williams T, Cornell RA. Seberg HE, et al. Among authors: van otterloo e. PLoS Genet. 2017 Mar 1;13(3):e1006636. doi: 10.1371/journal.pgen.1006636. eCollection 2017 Mar. PLoS Genet. 2017. PMID: 28249010 Free PMC article.
30 results