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Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.
Ferrè S, de Baaij JH, Ferreira P, Germann R, de Klerk JB, Lavrijsen M, van Zeeland F, Venselaar H, Kluijtmans LA, Hoenderop JG, Bindels RJ. Ferrè S, et al. Among authors: venselaar h. J Am Soc Nephrol. 2014 Mar;25(3):574-86. doi: 10.1681/ASN.2013040337. Epub 2013 Nov 7. J Am Soc Nephrol. 2014. PMID: 24204001 Free PMC article.
Membrane topology and intracellular processing of cyclin M2 (CNNM2).
de Baaij JH, Stuiver M, Meij IC, Lainez S, Kopplin K, Venselaar H, Müller D, Bindels RJ, Hoenderop JG. de Baaij JH, et al. Among authors: venselaar h. J Biol Chem. 2012 Apr 20;287(17):13644-55. doi: 10.1074/jbc.M112.342204. Epub 2012 Mar 7. J Biol Chem. 2012. PMID: 22399287 Free PMC article.
A Gate Hinge Controls the Epithelial Calcium Channel TRPV5.
van der Wijst J, Leunissen EH, Blanchard MG, Venselaar H, Verkaart S, Paulsen CE, Bindels RJ, Hoenderop JG. van der Wijst J, et al. Among authors: venselaar h. Sci Rep. 2017 Apr 4;7:45489. doi: 10.1038/srep45489. Sci Rep. 2017. PMID: 28374795 Free PMC article.
A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine.
Oh SK, Baek JI, Weigand KM, Venselaar H, Swarts HG, Park SH, Hashim Raza M, Jung DJ, Choi SY, Lee SH, Friedrich T, Vriend G, Koenderink JB, Kim UK, Lee KY. Oh SK, et al. Among authors: venselaar h. Eur J Hum Genet. 2015 May;23(5):639-45. doi: 10.1038/ejhg.2014.154. Epub 2014 Aug 20. Eur J Hum Genet. 2015. PMID: 25138102 Free PMC article.
Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.
Iqbal Z, Willemsen MH, Papon MA, Musante L, Benevento M, Hu H, Venselaar H, Wissink-Lindhout WM, Vulto-van Silfhout AT, Vissers LE, de Brouwer AP, Marouillat S, Wienker TF, Ropers HH, Kahrizi K, Nadif Kasri N, Najmabadi H, Laumonnier F, Kleefstra T, van Bokhoven H. Iqbal Z, et al. Among authors: venselaar h. Am J Hum Genet. 2015 Mar 5;96(3):386-96. doi: 10.1016/j.ajhg.2015.01.010. Epub 2015 Feb 19. Am J Hum Genet. 2015. PMID: 25704603 Free PMC article.
Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.
Bertoli-Avella AM, Gillis E, Morisaki H, Verhagen JMA, de Graaf BM, van de Beek G, Gallo E, Kruithof BPT, Venselaar H, Myers LA, Laga S, Doyle AJ, Oswald G, van Cappellen GWA, Yamanaka I, van der Helm RM, Beverloo B, de Klein A, Pardo L, Lammens M, Evers C, Devriendt K, Dumoulein M, Timmermans J, Bruggenwirth HT, Verheijen F, Rodrigus I, Baynam G, Kempers M, Saenen J, Van Craenenbroeck EM, Minatoya K, Matsukawa R, Tsukube T, Kubo N, Hofstra R, Goumans MJ, Bekkers JA, Roos-Hesselink JW, van de Laar IMBH, Dietz HC, Van Laer L, Morisaki T, Wessels MW, Loeys BL. Bertoli-Avella AM, et al. Among authors: venselaar h. J Am Coll Cardiol. 2015 Apr 7;65(13):1324-1336. doi: 10.1016/j.jacc.2015.01.040. J Am Coll Cardiol. 2015. PMID: 25835445 Free PMC article.
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC. Marchegiani S, et al. Among authors: venselaar h. Am J Hum Genet. 2015 Jul 2;97(1):99-110. doi: 10.1016/j.ajhg.2015.05.017. Epub 2015 Jun 25. Am J Hum Genet. 2015. PMID: 26119818 Free PMC article.
124 results