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Jones, F. E. et al. (2016) ER stress and basement membrane defects combine to cause glomerular and tubular renal disease resulting from Col4a1 mutations in mice. Disease Models and Mechanisms, 9(2), pp. 165-76. (doi:10.1242/dmm.021741) (PMID:26839400) (PMCID:PMC4770143)

Murray, L.S., Lu, Y., Taggart, A., Van Regemorter, N., Vilain, C., Abramowicz, M., Kadler, K.E. and Van Agtmael, T. (2014) Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke. Human Molecular Genetics, 23(2), pp. 283-292. (doi:10.1093/hmg/ddt418) (PMID:24001601) (PMCID:PMC3869351)

Van Agtmael, T. , Bailey, M. A., Schlotzer-Schrehardt, U., Craigie, E., Jackson, I. J., Brownstein, D. G., Megson, I. L. and Mullins, J. J. (2010) Col4a1 mutation in mice causes defects in vascular function and low blood pressure associated with reduced red blood cell volume. Human Molecular Genetics, 19(6), pp. 1119-1128. (doi:10.1093/hmg/ddp584)

Van Agtmael, T. and Bruckner-Tuderman, L. (2010) Basement membranes and human disease. Cell and Tissue Research, 339(1), pp. 167-188. (doi:10.1007/s00441-009-0866-y)

Alamowitch, S., Plaisier, E., Favrole, P., Prost, C., Chen, Z., Van Agtmael, T. , Marro, B. and Ronco, P. (2009) Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. Neurology, 73(22), pp. 1873-1882. (doi:10.1212/WNL.0b013e3181c3fd12)

Plaisier, E. et al. (2007) COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. New England Journal of Medicine, 357(26), pp. 2687-2695. (doi:10.1056/NEJMoa071906)

This list was generated on Mon Dec 16 08:07:20 2019 GMT.