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Tom Van Agtmael
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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
3822007
Basement membranes and human disease
T Van Agtmael, L Bruckner-Tuderman
Cell and tissue research 339 (1), 167-188, 2010
1762010
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
1732009
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
1622005
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
1432015
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
1251997
Basement membrane stiffness determines metastases formation
R Reuten, S Zendehroud, M Nicolau, L Fleischhauer, A Laitala, ...
Nature materials 20 (6), 892-903, 2021
1212021
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
1022011
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
972016
Basement membrane collagens and disease mechanisms
A Gatseva, YY Sin, G Brezzo, T Van Agtmael
Essays in biochemistry 63 (3), 297-312, 2019
902019
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
812014
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
792010
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
582003
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
572018
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
552021
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
512002
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
452016
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
422017
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
421997
Proteome-based systems biology analysis of the diabetic mouse aorta reveals major changes in fatty acid biosynthesis as potential hallmark in diabetes mellitus–associated …
H Husi, T Van Agtmael, W Mullen, FH Bahlmann, JP Schanstra, A Vlahou, ...
Circulation: Cardiovascular Genetics 7 (2), 161-170, 2014
282014
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