Vriend G - Search Results

1

Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein.

Lee HK, Song MH, Kang M, Lee JT, Kong KA, Choi SJ, Lee KY, Venselaar H, Vriend G, Lee WS, Park HJ, Kwon TK, Bok J, Kim UK. Lee HK, et al. Among authors: vriend g. Physiol Genomics. 2009 Nov 6;39(3):195-201. doi: 10.1152/physiolgenomics.00100.2009. Epub 2009 Aug 11. Physiol Genomics. 2009. PMID: 19671658

2

A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain.

Cho HJ, Park HJ, Trexler M, Venselaar H, Lee KY, Robertson NG, Baek JI, Kang BS, Morton CC, Vriend G, Patthy L, Kim UK. Cho HJ, et al. Among authors: vriend g. J Mol Med (Berl). 2012 Nov;90(11):1321-1331. doi: 10.1007/s00109-012-0911-2. Epub 2012 May 19. J Mol Med (Berl). 2012. PMID: 22610276 Free PMC article.

3

The effect of novel mutations on the structure and enzymatic activity of unconventional myosins associated with autosomal dominant non-syndromic hearing loss.

Kwon TJ, Oh SK, Park HJ, Sato O, Venselaar H, Choi SY, Kim S, Lee KY, Bok J, Lee SH, Vriend G, Ikebe M, Kim UK, Choi JY. Kwon TJ, et al. Among authors: vriend g. Open Biol. 2014 Jul;4(7):140107. doi: 10.1098/rsob.140107. Open Biol. 2014. PMID: 25080041 Free PMC article.

4

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: vriend g. 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.

5

SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).

Kim HJ, Won HH, Park KJ, Hong SH, Ki CS, Cho SS, Venselaar H, Vriend G, Kim JW. Kim HJ, et al. Among authors: vriend g. PLoS One. 2013 Nov 18;8(11):e79063. doi: 10.1371/journal.pone.0079063. eCollection 2013. PLoS One. 2013. PMID: 24260153 Free PMC article. Clinical Trial.

6

The moonlighting function of pyruvate carboxylase resides in the non-catalytic end of the TIM barrel.

Huberts DH, Venselaar H, Vriend G, Veenhuis M, van der Klei IJ. Huberts DH, et al. Among authors: vriend g. Biochim Biophys Acta. 2010 Sep;1803(9):1038-42. doi: 10.1016/j.bbamcr.2010.03.018. Epub 2010 Mar 30. Biochim Biophys Acta. 2010. PMID: 20359504 Free article.

7

Negative constraints underlie the ErbB specificity of epidermal growth factor-like ligands.

van der Woning SP, van Rotterdam W, Nabuurs SB, Venselaar H, Jacobs-Oomen S, Wingens M, Vriend G, Stortelers C, van Zoelen EJ. van der Woning SP, et al. Among authors: vriend g. J Biol Chem. 2006 Dec 29;281(52):40033-40. doi: 10.1074/jbc.M603168200. Epub 2006 Oct 10. J Biol Chem. 2006. PMID: 17032651 Free article.

8

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces.

Venselaar H, Te Beek TA, Kuipers RK, Hekkelman ML, Vriend G. Venselaar H, et al. Among authors: vriend g. BMC Bioinformatics. 2010 Nov 8;11:548. doi: 10.1186/1471-2105-11-548. BMC Bioinformatics. 2010. PMID: 21059217 Free PMC article.

9

Homology modelling and spectroscopy, a never-ending love story.

Venselaar H, Joosten RP, Vroling B, Baakman CA, Hekkelman ML, Krieger E, Vriend G. Venselaar H, et al. Among authors: vriend g. Eur Biophys J. 2010 Mar;39(4):551-63. doi: 10.1007/s00249-009-0531-0. Epub 2009 Aug 29. Eur Biophys J. 2010. PMID: 19718498 Free PMC article. Review.

10

Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.

Collin RW, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Ahmed ZM, Caylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, Bahat E, Ansar M, Arslan S, Wollnik B, Brunner HG, Cremers CW, Karaguzel A, Ahmad W, Cremers FP, Vriend G, Friedman TB, Riazuddin S, Leal SM, Kremer H. Collin RW, et al. Among authors: vriend g. Am J Hum Genet. 2008 Jan;82(1):125-38. doi: 10.1016/j.ajhg.2007.09.008. Am J Hum Genet. 2008. PMID: 18179891 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

248 results

Search Page