van Wijk E - Search Results

1

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.

Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y, van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ, Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ, Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B, Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM, Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E, Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ, Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U, Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB, Roepman R; UK10K Rare Diseases Group. Boldt K, et al. Among authors: van beersum se, van reeuwijk j, van dam tj, van wijk e. Nat Commun. 2016 May 13;7:11491. doi: 10.1038/ncomms11491. Nat Commun. 2016. PMID: 27173435 Free PMC article.

2

Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.

van Wijk E, Pennings RJ, te Brinke H, Claassen A, Yntema HG, Hoefsloot LH, Cremers FP, Cremers CW, Kremer H. van Wijk E, et al. Am J Hum Genet. 2004 Apr;74(4):738-44. doi: 10.1086/383096. Epub 2004 Mar 10. Am J Hum Genet. 2004. PMID: 15015129 Free PMC article.

3

A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment.

Kemperman MH, De Leenheer EM, Huygen PL, van Wijk E, van Duijnhoven G, Cremers FP, Kremer H, Cremers CW. Kemperman MH, et al. Among authors: van duijnhoven g, van wijk e. Arch Otolaryngol Head Neck Surg. 2004 Mar;130(3):281-8. doi: 10.1001/archotol.130.3.281. Arch Otolaryngol Head Neck Surg. 2004. PMID: 15023833

4

Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

Luijendijk MW, Van Wijk E, Bischoff AM, Krieger E, Huygen PL, Pennings RJ, Brunner HG, Cremers CW, Cremers FP, Kremer H. Luijendijk MW, et al. Among authors: van wijk e. Hum Genet. 2004 Jul;115(2):149-56. doi: 10.1007/s00439-004-1137-3. Epub 2004 Jun 2. Hum Genet. 2004. PMID: 15221449

5

Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2.

Reiners J, van Wijk E, Märker T, Zimmermann U, Jürgens K, te Brinke H, Overlack N, Roepman R, Knipper M, Kremer H, Wolfrum U. Reiners J, et al. Among authors: van wijk e. Hum Mol Genet. 2005 Dec 15;14(24):3933-43. doi: 10.1093/hmg/ddi417. Epub 2005 Nov 21. Hum Mol Genet. 2005. PMID: 16301216

6

The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1.

van Wijk E, van der Zwaag B, Peters T, Zimmermann U, Te Brinke H, Kersten FF, Märker T, Aller E, Hoefsloot LH, Cremers CW, Cremers FP, Wolfrum U, Knipper M, Roepman R, Kremer H. van Wijk E, et al. Among authors: van der zwaag b. Hum Mol Genet. 2006 Mar 1;15(5):751-65. doi: 10.1093/hmg/ddi490. Epub 2006 Jan 24. Hum Mol Genet. 2006. PMID: 16434480

7

Usher syndrome: molecular links of pathogenesis, proteins and pathways.

Kremer H, van Wijk E, Märker T, Wolfrum U, Roepman R. Kremer H, et al. Among authors: van wijk e. Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R262-70. doi: 10.1093/hmg/ddl205. Hum Mol Genet. 2006. PMID: 16987892 Review.

8

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.

den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns KV, Sedmak T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S, Lopez I, Ivings L, Williams GA, Springell K, Woods CG, Jafri H, Rashid Y, Strom TM, van der Zwaag B, Gosens I, Kersten FF, van Wijk E, Veltman JA, Zonneveld MN, van Beersum SE, Maumenee IH, Wolfrum U, Cheetham ME, Ueffing M, Cremers FP, Inglehearn CF, Roepman R. den Hollander AI, et al. Among authors: van beersum se, van der zwaag b, van wijk e. Nat Genet. 2007 Jul;39(7):889-95. doi: 10.1038/ng2066. Epub 2007 Jun 3. Nat Genet. 2007. PMID: 17546029

9

MPP1 links the Usher protein network and the Crumbs protein complex in the retina.

Gosens I, van Wijk E, Kersten FF, Krieger E, van der Zwaag B, Märker T, Letteboer SJ, Dusseljee S, Peters T, Spierenburg HA, Punte IM, Wolfrum U, Cremers FP, Kremer H, Roepman R. Gosens I, et al. Among authors: van der zwaag b, van wijk e. Hum Mol Genet. 2007 Aug 15;16(16):1993-2003. doi: 10.1093/hmg/ddm147. Epub 2007 Jun 21. Hum Mol Genet. 2007. PMID: 17584769

10

A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells.

Maerker T, van Wijk E, Overlack N, Kersten FF, McGee J, Goldmann T, Sehn E, Roepman R, Walsh EJ, Kremer H, Wolfrum U. Maerker T, et al. Among authors: van wijk e. Hum Mol Genet. 2008 Jan 1;17(1):71-86. doi: 10.1093/hmg/ddm285. Epub 2007 Sep 28. Hum Mol Genet. 2008. PMID: 17906286

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