Genetic causes of hypercalciuric nephrolithiasis

Por Stechman, Michael J., Loh, Nellie Y., Thakker, Rajesh V.
Publicado em 2008

β-dystrobrevin, a member of the dystrophin-related protein family

Por Blake, Derek J., Nawrotzki, Ralph, Loh, Nellie Y., Górecki, Dariusz C., Davies, Kay E.
Publicado em 1998

Role of β-Dystrobrevin in Nonmuscle Dystrophin-Associated Protein Complex-Like Complexes in Kidney and Liver

Por Loh, Nellie Y., Nebenius-Oosthuizen, Daniela, Blake, Derek J., Smith, Andrew J. H., Davies, Kay E.
Publicado em 2001

Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure

Por Smith, Andrew J., Reed, Anita A. C., Loh, Nellie Y., Thakker, Rajesh V., Lippiat, Jonathan D.
Publicado em 2009

Mice with an N-Ethyl-N-Nitrosourea (ENU) Induced Tyr209Asn Mutation in Natriuretic Peptide Receptor 3 (NPR3) Provide a Model for Kyphosis Associated with Activation of the MAPK Sig...

Por Esapa, Christopher T., Piret, Sian E., Nesbit, M. Andrew, Loh, Nellie Y., Thomas, Gethin, Croucher, Peter I., Brown, Matthew A., Brown, Steve D. M., Cox, Roger D., Thakker, Rajesh V.
Publicado no PLoS One (2016)

A Mouse Model of Early-Onset Renal Failure Due to a Xanthine Dehydrogenase Nonsense Mutation

Por Piret, Sian E., Esapa, Christopher T., Gorvin, Caroline M., Head, Rosie, Loh, Nellie Y., Devuyst, Olivier, Thomas, Gethin, Brown, Steve D. M., Brown, Matthew, Croucher, Peter, Cox, Roger, Thakker, Rajesh V.
Publicado em 2012

LRP5 Regulates Human Body Fat Distribution by Modulating Adipose Progenitor Biology in a Dose- and Depot-Specific Fashion

Por Loh, Nellie Y., Neville, Matt J., Marinou, Kyriakoula, Hardcastle, Sarah A., Fielding, Barbara A., Duncan, Emma L., McCarthy, Mark I., Tobias, Jonathan H., Gregson, Celia L., Karpe, Fredrik, Christodoulides, Constantinos
Publicado no Cell Metab (2015)

CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease

Por Reed, Anita A. C., Loh, Nellie Y., Terryn, Sara, Lippiat, Jonathan D., Partridge, Chris, Galvanovskis, Juris, Williams, Siân E., Jouret, Francois, Wu, Fiona T. F., Courtoy, Pierre J., Nesbit, M. Andrew, Rorsman, Patrik, Devuyst, Olivier, Ashcroft, Frances M., Thakker, Rajesh V.
Publicado em 2010

Autosomal Dominant Hypercalciuria in a Mouse Model Due to a Mutation of the Epithelial Calcium Channel, TRPV5

Por Loh, Nellie Y., Bentley, Liz, Dimke, Henrik, Verkaart, Sjoerd, Tammaro, Paolo, Gorvin, Caroline M., Stechman, Michael J., Ahmad, Bushra N., Hannan, Fadil M., Piret, Sian E., Evans, Holly, Bellantuono, Ilaria, Hough, Tertius A., Fraser, William D., Hoenderop, Joost G. J., Ashcroft, Frances M., Brown, Steve D. M., Bindels, René J. M., Cox, Roger D., Thakker, Rajesh V.
Publicado em 2013