J. Paul Chapple

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

Alison Ross, Helen May‐Simera, Erica R. Eichers et al. · Nature Genetics · 2005 · 548 citations

Signal Transduction, Developmental Biology, Medicine +7

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

Louise Metherell, J. Paul Chapple, Sadani N. Cooray et al. · Nature Genetics · 2005 · 444 citations

Mendelian Disorder, Autoimmune Disease, New Interacting Partner +9

The Role of the Aryl Hydrocarbon Receptor-Interacting Protein Gene in Familial and Sporadic Pituitary Adenomas

Chrysanthia A. Leontiou, Maria Gueorguiev, Jacqueline van der Spuy et al. · The Journal of Clinical Endocrinology & Metabolism · 2008 · 293 citations · Full text

Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency

Eirini Meimaridou, Julia Kowalczyk, Leonardo Guasti et al. · Nature Genetics · 2012 · 260 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +6

MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family

Li F. Chan, Tom R. Webb, Teng‐Teng Chung et al. · Proceedings of the National Academy of Sciences · 2009 · 236 citations · Full text

Mc2r Accessory Protein, Molecular Biology, Cellular Physiology +19