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Phospholipase A2 receptor (PLA2R1) sequence variants in idiopathic membranous nephropathy.
Coenen MJ, Hofstra JM, Debiec H, Stanescu HC, Medlar AJ, Stengel B, Boland-Augé A, Groothuismink JM, Bockenhauer D, Powis SH, Mathieson PW, Brenchley PE, Kleta R, Wetzels JF, Ronco P. Coenen MJ, et al. Among authors: groothuismink jm. J Am Soc Nephrol. 2013 Mar;24(4):677-83. doi: 10.1681/ASN.2012070730. Epub 2013 Feb 21. J Am Soc Nephrol. 2013. PMID: 23431073 Free PMC article.
Effects of the 34C>T Variant of the AMPD1 Gene on Immune Function, Multi-Organ Dysfunction, and Mortality in Sepsis Patients.
Ramakers BP, Giamarellos-Bourboulis EJ, Tasioudis C, Coenen MJ, Kox M, Vermeulen SH, Groothuismink JM, van der Hoeven JG, Routsi C, Savva A, Prekates A, Diamantea F, Sinapidis D, Smits P, Toutouzas K, Riksen NP, Pickkers P; Hellenic Sepsis Study Group. Ramakers BP, et al. Among authors: groothuismink jm. Shock. 2015 Dec;44(6):542-7. doi: 10.1097/SHK.0000000000000456. Shock. 2015. PMID: 26529652
SLC7A8 coding for LAT2 is associated with early disease progression in osteosarcoma and transports doxorubicin.
Hurkmans EGE, Koenderink JB, van den Heuvel JJMW, Versleijen-Jonkers YMH, Hillebrandt-Roeffen MHS, Groothuismink JM, Vos HI, van der Graaf WTA, Flucke U, Muradjan G, Schreuder HWB, Hagleitner MM, Brunner HG, Gelderblom H, Cleton-Jansen AM, Guchelaar HJ, de Bont ESJM, Touw DJ, Nijhoff GJ, Kremer LCM, Caron H, Windsor R, Patiño-García A, González-Neira A, Saletta F, McCowage G, Nagabushan S, Catchpoole D, Te Loo DMWM, Coenen MJH. Hurkmans EGE, et al. Among authors: groothuismink jm. Front Pharmacol. 2022 Nov 9;13:1042989. doi: 10.3389/fphar.2022.1042989. eCollection 2022. Front Pharmacol. 2022. PMID: 36438828 Free PMC article.
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature.
Collin RW, Nikopoulos K, Dona M, Gilissen C, Hoischen A, Boonstra FN, Poulter JA, Kondo H, Berger W, Toomes C, Tahira T, Mohn LR, Blokland EA, Hetterschijt L, Ali M, Groothuismink JM, Duijkers L, Inglehearn CF, Sollfrank L, Strom TM, Uchio E, van Nouhuys CE, Kremer H, Veltman JA, van Wijk E, Cremers FP. Collin RW, et al. Among authors: groothuismink jm. Proc Natl Acad Sci U S A. 2013 Jun 11;110(24):9856-61. doi: 10.1073/pnas.1220864110. Epub 2013 May 28. Proc Natl Acad Sci U S A. 2013. PMID: 23716654 Free PMC article.
Converging evidence does not support GIT1 as an ADHD risk gene.
Klein M, van der Voet M, Harich B, van Hulzen KJ, Onnink AM, Hoogman M, Guadalupe T, Zwiers M, Groothuismink JM, Verberkt A, Nijhof B, Castells-Nobau A, Faraone SV, Buitelaar JK, Schenck A, Arias-Vasquez A, Franke B; Psychiatric Genomics Consortium ADHD Working Group. Klein M, et al. Among authors: groothuismink jm. Am J Med Genet B Neuropsychiatr Genet. 2015 Sep;168(6):492-507. doi: 10.1002/ajmg.b.32327. Epub 2015 Jun 10. Am J Med Genet B Neuropsychiatr Genet. 2015. PMID: 26061966 Free PMC article.
DNA methylation associated with persistent ADHD suggests TARBP1 as novel candidate.
Weiß AL, Meijer M, Budeus B, Pauper M, Hakobjan M, Groothuismink J, Shi Y, Neveling K, Buitelaar JK, Hoogman M, Franke B, Klein M. Weiß AL, et al. Neuropharmacology. 2021 Feb 15;184:108370. doi: 10.1016/j.neuropharm.2020.108370. Epub 2020 Oct 31. Neuropharmacology. 2021. PMID: 33137342 Free article.