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ATP5PO levels regulate enteric nervous system development in zebrafish, linking Hirschsprung disease to Down Syndrome.
Kuil LE, Chauhan RK, de Graaf BM, Cheng WW, Kakiailatu NJM, Lasabuda R, Verhaeghe C, Windster JD, Schriemer D, Azmani Z, Brooks AS, Edie S, Reeves RH, Eggen BJL, Shepherd IT, Burns AJ, Hofstra RMW, Melotte V, Brosens E, Alves MM. Kuil LE, et al. Among authors: chauhan rk. Biochim Biophys Acta Mol Basis Dis. 2024 Mar;1870(3):166991. doi: 10.1016/j.bbadis.2023.166991. Epub 2023 Dec 20. Biochim Biophys Acta Mol Basis Dis. 2024. PMID: 38128843 Free article.
The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a Model.
MacKenzie KC, Garritsen R, Chauhan RK, Sribudiani Y, de Graaf BM, Rugenbrink T, Brouwer R, van Ijcken WFJ, de Blaauw I, Brooks AS, Sloots CEJ, Meeuwsen CJHM, Wijnen RM, Newgreen DF, Burns AJ, Hofstra RMW, Alves MM, Brosens E. MacKenzie KC, et al. Among authors: chauhan rk. Int J Mol Sci. 2021 Nov 16;22(22):12354. doi: 10.3390/ijms222212354. Int J Mol Sci. 2021. PMID: 34830235 Free PMC article.
Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease.
Sribudiani Y, Chauhan RK, Alves MM, Petrova L, Brosens E, Harrison C, Wabbersen T, de Graaf BM, Rügenbrink T, Burzynski G, Brouwer RWW, van IJcken WFJ, Maas SM, de Klein A, Osinga J, Eggen BJL, Burns AJ, Brooks AS, Shepherd IT, Hofstra RMW. Sribudiani Y, et al. Among authors: chauhan rk. Gastroenterology. 2018 Jul;155(1):118-129.e6. doi: 10.1053/j.gastro.2018.03.034. Epub 2018 Mar 28. Gastroenterology. 2018. PMID: 29601828 Free article.
26 results