COL4A1 Mutations and Hereditary Angiopathy, Nephropathy, Aneurysms, and Muscle Cramps E Plaisier, O Gribouval, S Alamowitch, B Mougenot, C Prost, MC Verpont, ... New England Journal of Medicine 357 (26), 2687-2695, 2007 | 391 | 2007 |
Basement membranes and human disease T Van Agtmael, L Bruckner-Tuderman Cell and tissue research 339 (1), 167-188, 2010 | 184 | 2010 |
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome S Alamowitch, E Plaisier, P Favrole, C Prost, Z Chen, T Van Agtmael, ... Neurology 73 (22), 1873-1882, 2009 | 173 | 2009 |
Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy T Van Agtmael, U Schlötzer-Schrehardt, L McKie, DG Brownstein, AW Lee, ... Human molecular genetics 14 (21), 3161-3168, 2005 | 163 | 2005 |
Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease K Rannikmäe, G Davies, PA Thomson, S Bevan, WJ Devan, GJ Falcone, ... Neurology 84 (9), 918-926, 2015 | 147 | 2015 |
Basement membrane stiffness determines metastases formation R Reuten, S Zendehroud, M Nicolau, L Fleischhauer, A Laitala, ... Nature materials 20 (6), 892-903, 2021 | 142 | 2021 |
Identification and characterization of a novel member of the EXT gene family, EXTL2 W Wuyts, W Van Hul, J Hendrickx, F Speleman, J Wauters, K De Boulle, ... European Journal of Human Genetics 5 (6), 382-389, 1997 | 124 | 1997 |
Tendon is covered by a basement membrane epithelium that is required for cell retention and the prevention of adhesion formation SH Taylor, S Al-Youha, T Van Agtmael, Y Lu, J Wong, DA McGrouther, ... PloS one 6 (1), e16337, 2011 | 107 | 2011 |
Disruption of a miR‐29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy E Verdura, D Hervé, F Bergametti, C Jacquet, T Morvan, C Prieto‐Morin, ... Annals of neurology 80 (5), 741-753, 2016 | 104 | 2016 |
Basement membrane collagens and disease mechanisms A Gatseva, YY Sin, G Brezzo, T Van Agtmael Essays in biochemistry 63 (3), 297-312, 2019 | 102 | 2019 |
Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes … LS Murray, Y Lu, A Taggart, N Van Regemorter, C Vilain, M Abramowicz, ... Human molecular genetics 23 (2), 283-292, 2014 | 85 | 2014 |
Col4a1 mutation in mice causes defects in vascular function and low blood pressure associated with reduced red blood cell volume T Van Agtmael, MA Bailey, U Schlötzer-Schrehardt, E Craigie, IJ Jackson, ... Human molecular genetics 19 (6), 1119-1128, 2010 | 83 | 2010 |
Small vessels, dementia and chronic diseases–molecular mechanisms and pathophysiology K Horsburgh, JM Wardlaw, T Van Agtmael, SM Allan, MLJ Ashford, ... Clinical science 132 (8), 851-868, 2018 | 63 | 2018 |
Identification of an altered matrix signature in kidney aging and disease MJ Randles, F Lausecker, Q Kong, H Suleiman, G Reid, ... Journal of the American Society of Nephrology 32 (7), 1713-1732, 2021 | 59 | 2021 |
Parametric and nonparametric genome scan analyses for human handedness T Van Agtmael, SM Forrest, J Del-Favero, C Van Broeckhoven, ... European Journal of Human Genetics 11 (10), 779-783, 2003 | 59 | 2003 |
Parametric and non-parametric linkage analysis of several candidate regions for genes for human handedness T Van Agtmael, SM Forrest, R Williamson European Journal of Human Genetics 10 (10), 623-630, 2002 | 52 | 2002 |
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 … D Wang, M Mohammad, Y Wang, R Tan, LS Murray, S Ricardo, H Dagher, ... Kidney International Reports 2 (4), 739-748, 2017 | 46 | 2017 |
ER stress and basement membrane defects combine to cause glomerular and tubular renal disease resulting from Col4a1 mutations in mice FE Jones, MA Bailey, LS Murray, Y Lu, S McNeilly, ... Disease models & mechanisms 9 (2), 165-176, 2016 | 46 | 2016 |
The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q P Coucke, G Van Camp, O Demirhan, Y Kabakkaya, W Balemans, ... Genomics 40 (1), 48-54, 1997 | 41 | 1997 |
The role of basement membranes in cardiac biology and disease E Boland, F Quondamatteo, T Van Agtmael Bioscience Reports 41 (8), BSR20204185, 2021 | 31 | 2021 |