Edwin  Mientjes

contact

  • e.mientjes@erasmusmc.nl
  • +31 010 70 43565
  • Room: Ee-1491
  • Dr. Molewaterplein 40, Faculty Building, Rotterdam, The Netherlands

Dr. Edwin Mientjes (E.)

  • PhD
  • Postdoctoral Fellow
  • Erasmus MC

Publications

1. Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia.

de Vrij FM, Bouwkamp CG, Gunhanlar N, Shpak G, Lendemeijer B, Baghdadi M, Gopalakrishna S, Ghazvini M, Li TM, Quadri M, Olgiati S, Breedveld GJ, Coesmans M, Mientjes E, de Wit T, Verheijen FW, Beverloo HB, Cohen D, Kok RM, Bakker PR, Nijburg A, Spijker AT, Haffmans PMJ, Hoencamp E, Bergink V, Vorstman JA, Wu T, Olde Loohuis LM, Amin N, Langen CD, Hofman A, Hoogendijk WJ, van Duijn CM, Ikram MA, Vernooij MW, Tiemeier H, Uitterlinden AG, Elgersma Y, Distel B, Gribnau J, White T, Bonifati V, Kushner SA
in Molecular psychiatry 2018

2. The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function

Proietti Onori M, Koopal B, Everman DB, Worthington JD, Jones JR, Ploeg MA, Mientjes E, van Bon BW, Kleefstra T, Schulman H, Kushner SA, Küry S, Elgersma Y, van Woerden GM
in Hum Mutat 2018

3. Improvement of ubiquitylation site detection by Orbitrap mass spectrometry

van der Wal L, Bezstarosti K, Sap KA, Dekkers DHW, Rijkers E, Mientjes E, Elgersma Y, Demmers JAA
in J Proteomics 2018

4. HCN channels are a novel therapeutic target for cognitive dysfunction in Neurofibromatosis type 1.

Omrani A, van der Vaart T, Mientjes E, van Woerden GM, Hojjati MR, Li KW, Gutmann DH, Levelt CN, Smit AB, Silva AJ, Kushner SA, Elgersma Y
in Molecular psychiatry 2015

5. The GABAA receptor is an FMRP target with therapeutic potential in fragile X syndrome.

Braat S, D'Hulst C, Heulens I, De Rubeis S, Mientjes E, Nelson DL, Willemsen R, Bagni C, Van Dam D, De Deyn PP, Kooy RF
in Cell cycle (Georgetown, Tex.) 2015

6. NPHP4 variants are associated with pleiotropic heart malformations.

French VM, van de Laar IM, Wessels MW, Rohe C, Roos-Hesselink JW, Wang G, Frohn-Mulder IM, Severijnen LA, de Graaf BM, Schot R, Breedveld G, Mientjes E, van Tienhoven M, Jadot E, Jiang Z, Verkerk A, Swagemakers S, Venselaar H, Rahimi Z, Najmabadi H, Meijers-Heijboer H, de Graaff E, Helbing WA, Willemsen R, Devriendt K, Belmont JW, Oostra BA, Amack JD, Bertoli-Avella AM
in Circulation research 2012

7. Reduction in fragile X related 1 protein causes cardiomyopathy and muscular dystrophy in zebrafish.

Van't Padje S, Chaudhry B, Severijnen LA, van der Linde HC, Mientjes EJ, Oostra BA, Willemsen R.
in The Journal of experimental biology 2009

8. Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model

Silva-Santos, S., G. M. Van Woerden, C. F. Bruinsma, E. Mientjes, M. A. Jolfaei, B. Distel, S. A. Kushner and Y. Elgersma
in Journal of Clinical Investigation 125(5): 2069-2076
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