Van Agtmael T - Search Results

1

Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy.

Van Agtmael T, Schlötzer-Schrehardt U, McKie L, Brownstein DG, Lee AW, Cross SH, Sado Y, Mullins JJ, Pöschl E, Jackson IJ. Van Agtmael T, et al. Hum Mol Genet. 2005 Nov 1;14(21):3161-8. doi: 10.1093/hmg/ddi348. Epub 2005 Sep 13. Hum Mol Genet. 2005. PMID: 16159887

2

17th International Mouse Genome Conference.

Smyth I, Van Agtmael T, Jackson IJ. Smyth I, et al. Among authors: van agtmael t. Mamm Genome. 2004 Jul;15(7):509-14. doi: 10.1007/s00335-004-4001-9. Mamm Genome. 2004. PMID: 15366370 No abstract available.

3

Basement membranes and human disease.

Van Agtmael T, Bruckner-Tuderman L. Van Agtmael T, et al. Cell Tissue Res. 2010 Jan;339(1):167-88. doi: 10.1007/s00441-009-0866-y. Epub 2009 Sep 15. Cell Tissue Res. 2010. PMID: 19756754 Review.

4

Col4a1 mutation in mice causes defects in vascular function and low blood pressure associated with reduced red blood cell volume.

Van Agtmael T, Bailey MA, Schlötzer-Schrehardt U, Craigie E, Jackson IJ, Brownstein DG, Megson IL, Mullins JJ. Van Agtmael T, et al. Hum Mol Genet. 2010 Mar 15;19(6):1119-28. doi: 10.1093/hmg/ddp584. Epub 2010 Jan 7. Hum Mol Genet. 2010. PMID: 20056676 Free PMC article.

5

Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke.

Murray LS, Lu Y, Taggart A, Van Regemorter N, Vilain C, Abramowicz M, Kadler KE, Van Agtmael T. Murray LS, et al. Among authors: van regemorter n, van agtmael t. Hum Mol Genet. 2014 Jan 15;23(2):283-92. doi: 10.1093/hmg/ddt418. Epub 2013 Sep 2. Hum Mol Genet. 2014. PMID: 24001601 Free PMC article.

6

ER stress and basement membrane defects combine to cause glomerular and tubular renal disease resulting from Col4a1 mutations in mice.

Jones FE, Bailey MA, Murray LS, Lu Y, McNeilly S, Schlötzer-Schrehardt U, Lennon R, Sado Y, Brownstein DG, Mullins JJ, Kadler KE, Van Agtmael T. Jones FE, et al. Among authors: van agtmael t. Dis Model Mech. 2016 Feb;9(2):165-76. doi: 10.1242/dmm.021741. Dis Model Mech. 2016. PMID: 26839400 Free PMC article.

7

4-Sodium phenyl butyric acid has both efficacy and counter-indicative effects in the treatment of Col4a1 disease.

Jones FE, Murray LS, McNeilly S, Dean A, Aman A, Lu Y, Nikolova N, Malomgré R, Horsburgh K, Holmes WM, Kadler KE, Van Agtmael T. Jones FE, et al. Among authors: van agtmael t. Hum Mol Genet. 2019 Feb 15;28(4):628-638. doi: 10.1093/hmg/ddy369. Hum Mol Genet. 2019. PMID: 30351356 Free PMC article.

8

Basement membrane collagens and disease mechanisms.

Gatseva A, Sin YY, Brezzo G, Van Agtmael T. Gatseva A, et al. Among authors: van agtmael t. Essays Biochem. 2019 Sep 13;63(3):297-312. doi: 10.1042/EBC20180071. Print 2019 Sep 13. Essays Biochem. 2019. PMID: 31387942 Free PMC article. Review.

9

Material-driven fibronectin assembly rescues matrix defects due to mutations in collagen IV in fibroblasts.

Ngandu Mpoyi E, Cantini M, Sin YY, Fleming L, Zhou DW, Costell M, Lu Y, Kadler K, García AJ, Van Agtmael T, Salmeron-Sanchez M. Ngandu Mpoyi E, et al. Among authors: van agtmael t. Biomaterials. 2020 Sep;252:120090. doi: 10.1016/j.biomaterials.2020.120090. Epub 2020 May 3. Biomaterials. 2020. PMID: 32413593 Free PMC article.

10

Parametric and non-parametric linkage analysis of several candidate regions for genes for human handedness.

Van Agtmael T, Forrest SM, Williamson R. Van Agtmael T, et al. Eur J Hum Genet. 2002 Oct;10(10):623-30. doi: 10.1038/sj.ejhg.5200851. Eur J Hum Genet. 2002. PMID: 12357333

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