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Items: 21

1.

Basement membrane collagens and disease mechanisms.

Gatseva A, Sin YY, Brezzo G, Van Agtmael T.

Essays Biochem. 2019 Aug 6. pii: EBC20180071. doi: 10.1042/EBC20180071. [Epub ahead of print] Review.

PMID:
31387942
2.

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.

Hum Mol Genet. 2019 Feb 15;28(4):628-638. doi: 10.1093/hmg/ddy369.

3.

Small vessels, dementia and chronic diseases - molecular mechanisms and pathophysiology.

Horsburgh K, Wardlaw JM, van Agtmael T, Allan SM, Ashford MLJ, Bath PM, Brown R, Berwick J, Cader MZ, Carare RO, Davis JB, Duncombe J, Farr TD, Fowler JH, Goense J, Granata A, Hall CN, Hainsworth AH, Harvey A, Hawkes CA, Joutel A, Kalaria RN, Kehoe PG, Lawrence CB, Lockhart A, Love S, Macleod MR, Macrae IM, Markus HS, McCabe C, McColl BW, Meakin PJ, Miller A, Nedergaard M, O'Sullivan M, Quinn TJ, Rajani R, Saksida LM, Smith C, Smith KJ, Touyz RM, Trueman RC, Wang T, Williams A, Williams SCR, Work LM.

Clin Sci (Lond). 2018 Apr 30;132(8):851-868. doi: 10.1042/CS20171620. Print 2018 Apr 30.

4.

The Chemical Chaperone, PBA, Reduces ER Stress and Autophagy and Increases Collagen IV α5 Expression in Cultured Fibroblasts From Men With X-Linked Alport Syndrome and Missense Mutations.

Wang D, Mohammad M, Wang Y, Tan R, Murray LS, Ricardo S, Dagher H, van Agtmael T, Savige J.

Kidney Int Rep. 2017 Mar 27;2(4):739-748. doi: 10.1016/j.ekir.2017.03.004. eCollection 2017 Jul.

5.

Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy.

Verdura E, Hervé D, Bergametti F, Jacquet C, Morvan T, Prieto-Morin C, Mackowiak A, Manchon E, Hosseini H, Cordonnier C, Girard-Buttaz I, Rosenstingl S, Hagel C, Kuhlenbaümer G, Leca-Radu E, Goux D, Fleming L, Van Agtmael T, Chabriat H, Chapon F, Tournier-Lasserve E.

Ann Neurol. 2016 Nov;80(5):741-753. doi: 10.1002/ana.24782. Epub 2016 Oct 19.

PMID:
27666438
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.

Dis Model Mech. 2016 Feb;9(2):165-76. doi: 10.1242/dmm.021741.

7.

Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease.

Rannikmäe K, Davies G, Thomson PA, Bevan S, Devan WJ, Falcone GJ, Traylor M, Anderson CD, Battey TW, Radmanesh F, Deka R, Woo JG, Martin LJ, Jimenez-Conde J, Selim M, Brown DL, Silliman SL, Kidwell CS, Montaner J, Langefeld CD, Slowik A, Hansen BM, Lindgren AG, Meschia JF, Fornage M, Bis JC, Debette S, Ikram MA, Longstreth WT, Schmidt R, Zhang CR, Yang Q, Sharma P, Kittner SJ, Mitchell BD, Holliday EG, Levi CR, Attia J, Rothwell PM, Poole DL, Boncoraglio GB, Psaty BM, Malik R, Rost N, Worrall BB, Dichgans M, Van Agtmael T, Woo D, Markus HS, Seshadri S, Rosand J, Sudlow CL; METASTROKE Consortium; CHARGE WMH Group; ISGC ICH GWAS Study Collaboration; WMH in Ischemic Stroke GWAS Study Collaboration; International Stroke Genetics Consortium.

Neurology. 2015 Mar 3;84(9):918-26. doi: 10.1212/WNL.0000000000001309. Epub 2015 Feb 4.

8.

Proteome-based systems biology analysis of the diabetic mouse aorta reveals major changes in fatty acid biosynthesis as potential hallmark in diabetes mellitus-associated vascular disease.

Husi H, Van Agtmael T, Mullen W, Bahlmann FH, Schanstra JP, Vlahou A, Delles C, Perco P, Mischak H.

Circ Cardiovasc Genet. 2014 Apr;7(2):161-70. doi: 10.1161/CIRCGENETICS.113.000196. Epub 2014 Feb 26.

PMID:
24573165
9.

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.

Hum Mol Genet. 2014 Jan 15;23(2):283-92. doi: 10.1093/hmg/ddt418. Epub 2013 Sep 2.

10.

Tendon is covered by a basement membrane epithelium that is required for cell retention and the prevention of adhesion formation.

Taylor SH, Al-Youha S, Van Agtmael T, Lu Y, Wong J, McGrouther DA, Kadler KE.

PLoS One. 2011 Jan 26;6(1):e16337. doi: 10.1371/journal.pone.0016337.

11.

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.

Hum Mol Genet. 2010 Mar 15;19(6):1119-28. doi: 10.1093/hmg/ddp584. Epub 2010 Jan 7.

12.

Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome.

Alamowitch S, Plaisier E, Favrole P, Prost C, Chen Z, Van Agtmael T, Marro B, Ronco P.

Neurology. 2009 Dec 1;73(22):1873-82. doi: 10.1212/WNL.0b013e3181c3fd12.

13.

Basement membranes and human disease.

Van Agtmael T, Bruckner-Tuderman L.

Cell Tissue Res. 2010 Jan;339(1):167-88. doi: 10.1007/s00441-009-0866-y. Epub 2009 Sep 15. Review.

PMID:
19756754
14.

COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.

Plaisier E, Gribouval O, Alamowitch S, Mougenot B, Prost C, Verpont MC, Marro B, Desmettre T, Cohen SY, Roullet E, Dracon M, Fardeau M, Van Agtmael T, Kerjaschki D, Antignac C, Ronco P.

N Engl J Med. 2007 Dec 27;357(26):2687-95.

15.

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.

Hum Mol Genet. 2005 Nov 1;14(21):3161-8. Epub 2005 Sep 13.

PMID:
16159887
16.

Genes for left-handedness: how to search for the needle in the haystack?

Van Agtmael T, Forrest SM, Williamson R.

Laterality. 2001 Apr;6(2):149-64.

PMID:
15513167
17.

17th International Mouse Genome Conference.

Smyth I, Van Agtmael T, Jackson IJ.

Mamm Genome. 2004 Jul;15(7):509-14. No abstract available.

PMID:
15366370
18.

Parametric and nonparametric genome scan analyses for human handedness.

Van Agtmael T, Forrest SM, Del-Favero J, Van Broeckhoven C, Williamson R.

Eur J Hum Genet. 2003 Oct;11(10):779-83.

19.

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

Van Agtmael T, Forrest SM, Williamson R.

Eur J Hum Genet. 2002 Oct;10(10):623-30.

20.

Identification and characterization of a novel member of the EXT gene family, EXTL2.

Wuyts W, Van Hul W, Hendrickx J, Speleman F, Wauters J, De Boulle K, Van Roy N, Van Agtmael T, Bossuyt P, Willems PJ.

Eur J Hum Genet. 1997 Nov-Dec;5(6):382-9.

PMID:
9450183
21.

The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q.

Coucke P, Van Camp G, Demirhan O, Kabakkaya Y, Balemans W, Van Hauwe P, Van Agtmael T, Smith RJ, Parving A, Bolder CH, Cremers CW, Willems PJ.

Genomics. 1997 Feb 15;40(1):48-54.

PMID:
9070918

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