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TFAP2B Haploinsufficiency Impacts Gastrointestinal Function and Leads to Pediatric Intestinal Pseudo-obstruction.
Zada A, Kuil LE, de Graaf BM, Kakiailatu N, Windster JD, Brooks AS, van Slegtenhorst M, de Koning B, Wijnen RMH, Melotte V, Hofstra RMW, Brosens E, Alves MM. Zada A, et al. Among authors: hofstra rmw. Front Cell Dev Biol. 2022 Jul 8;10:901824. doi: 10.3389/fcell.2022.901824. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 35874825 Free PMC article.
Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.
Kuil LE, MacKenzie KC, Tang CS, Windster JD, Le TL, Karim A, de Graaf BM, van der Helm R, van Bever Y, Sloots CEJ, Meeussen C, Tibboel D, de Klein A, Wijnen RMH, Amiel J, Lyonnet S, Garcia-Barcelo MM, Tam PKH, Alves MM, Brooks AS, Hofstra RMW, Brosens E. Kuil LE, et al. Among authors: hofstra rmw. PLoS Genet. 2021 Aug 6;17(8):e1009698. doi: 10.1371/journal.pgen.1009698. eCollection 2021 Aug. PLoS Genet. 2021. PMID: 34358225 Free PMC article.
Genetics of enteric neuropathies.
Brosens E, Burns AJ, Brooks AS, Matera I, Borrego S, Ceccherini I, Tam PK, García-Barceló MM, Thapar N, Benninga MA, Hofstra RM, Alves MM. Brosens E, et al. Dev Biol. 2016 Sep 15;417(2):198-208. doi: 10.1016/j.ydbio.2016.07.008. Epub 2016 Jul 15. Dev Biol. 2016. PMID: 27426273 Free article. Review.
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: hofstra rmw. Int J Mol Sci. 2021 Nov 16;22(22):12354. doi: 10.3390/ijms222212354. Int J Mol Sci. 2021. PMID: 34830235 Free PMC article.
The long Filamin-A isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstruction.
Zada A, Zhao Y, Halim D, Windster J, van der Linde HC, Glodener J, Overkleeft S, de Graaf BM, Verdijk RM, Brooks AS, Shepherd I, Gao Y, Burns AJ, Hofstra RMW, Alves MM. Zada A, et al. Among authors: hofstra rmw. Hum Mol Genet. 2023 Jan 1;32(1):151-160. doi: 10.1093/hmg/ddac199. Hum Mol Genet. 2023. PMID: 35981053 Free PMC article.
Epigenetics in ENS development and Hirschsprung disease.
Torroglosa A, Alves MM, Fernández RM, Antiñolo G, Hofstra RM, Borrego S. Torroglosa A, et al. Dev Biol. 2016 Sep 15;417(2):209-16. doi: 10.1016/j.ydbio.2016.06.017. Epub 2016 Jun 16. Dev Biol. 2016. PMID: 27321561 Free article. Review.
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
Halim D, Hofstra RM, Signorile L, Verdijk RM, van der Werf CS, Sribudiani Y, Brouwer RW, van IJcken WF, Dahl N, Verheij JB, Baumann C, Kerner J, van Bever Y, Galjart N, Wijnen RM, Tibboel D, Burns AJ, Muller F, Brooks AS, Alves MM. Halim D, et al. Hum Mol Genet. 2016 Feb 1;25(3):571-83. doi: 10.1093/hmg/ddv497. Epub 2015 Dec 8. Hum Mol Genet. 2016. PMID: 26647307
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.
Halim D, Wilson MP, Oliver D, Brosens E, Verheij JB, Han Y, Nanda V, Lyu Q, Doukas M, Stoop H, Brouwer RW, van IJcken WF, Slivano OJ, Burns AJ, Christie CK, de Mesy Bentley KL, Brooks AS, Tibboel D, Xu S, Jin ZG, Djuwantono T, Yan W, Alves MM, Hofstra RM, Miano JM. Halim D, et al. Proc Natl Acad Sci U S A. 2017 Mar 28;114(13):E2739-E2747. doi: 10.1073/pnas.1620507114. Epub 2017 Mar 14. Proc Natl Acad Sci U S A. 2017. PMID: 28292896 Free PMC article.
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
Halim D, Brosens E, Muller F, Wangler MF, Beaudet AL, Lupski JR, Akdemir ZHC, Doukas M, Stoop HJ, de Graaf BM, Brouwer RWW, van Ijcken WFJ, Oury JF, Rosenblatt J, Burns AJ, Tibboel D, Hofstra RMW, Alves MM. Halim D, et al. Among authors: hofstra rmw. Am J Hum Genet. 2017 Jul 6;101(1):123-129. doi: 10.1016/j.ajhg.2017.05.011. Epub 2017 Jun 8. Am J Hum Genet. 2017. PMID: 28602422 Free PMC article.
293 results