Research supported by MLC
The MLC supports the work of many research groups across a diverse range of disease areas, including hearing loss, type 2 diabetes, sex determination, neurodegeneration and circadian function, to name a few. Such support can include detailed phenotyping in addition to generation and husbandry of mutant mouse lines.
CIB2 function is distinct from Whirlin in the development of cochlear stereocilia staircase pattern
Giese, A. P. J., Parker, A., Rehman, S., Brown, S. D. M., Riazuddin, S., Kooi, C. W. V., Bowl, M. R., Ahmed, Z. M.
Characterization of quinazolinone calcilytic therapy for autosomal dominant hypocalcemia type 1 (ADH1)
Hannan, F. M., Kooblall, K. G., Stevenson, M., Elajnaf, T., Liu, F., Lines, K. E., Meng, X., Stewart, M., Wells, S., Nemeth, E. F., Shoichet, B. K., Kneissel, M., Gasser, J. A., Thakker, R. V.
An ultra-conserved poison exon in the Tra2b gene encoding a splicing activator is essential for male fertility and meiotic cell division
Dalgliesh, C., Aldalaqan, S., Atallah, C., Best, A., Scott, E., Ehrmann, I., Merces, G., Mannion, J., Badurova, B., Sandher, R., Illing, Y., Wirth, B., Wells, S., Codner, G., Teboul, L., Smith, G. R., Hedley, A., Herbert, M., de Rooij, D. G., Miles, C., Reynard, L. N., Elliott, D. J.
TDP-43-M323K causes abnormal brain development and progressive cognitive and motor deficits associated with mislocalised and increased levels of TDP-43
Godoy-Corchuelo, J. M., Ali, Z., Brito Armas, J. M., Martins-Bach, A. B., García-Toledo, I., Fernández-Beltrán, L. C., López-Carbonero, J. I., Bascuñana, P., Spring, S., Jimenez-Coca, I., Muñoz de Bustillo Alfaro, R. A., Sánchez-Barrena, M. J., Nair, R. R., Nieman, B. J., Lerch, J. P., Miller, K. L., Ozdinler, H. P., Fisher, E. M. C., Cunningham, T. J., Acevedo-Arozena, A., Corrochano, S.
Pleiotropic brain function of whirlin identified by a novel mutation
Aguilar, C., Williams, D., Kurapati, R., Bains, R. S., Mburu, P., Parker, A., Williams, J., Concas, D., Tateossian, H., Haynes, A. R., Banks, G., Vikhe, P., Heise, I., Hutchison, M., Atkins, G., Gillard, S., Starbuck, B., Oliveri, S., Blake, A., Sethi, S., Kumar, S., Bardhan, T., Jeng, J. Y., Johnson, S. L., Corns, L. F., Marcotti, W., Simon, M., Wells, S., Potter, P. K., Lad, H. V.