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Jp Chapple

Seoul National University Hospital

21

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460

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Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency

2012 Nature Genetics
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MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family

2009 Proceedings of the National Academy of Sciences of the United States of America
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AIP, a Protein Mutated in Familial Acromegaly, Plays a Role in the Regulation of Cell Proliferation and Shows Cell-Type Specific Subcellular Localisation

2009 Hormone Research in Paediatrics
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The role of the aryl hydrocarbon receptor-interacting protein gene in familial

2008
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Familial acromegaly the role of the AIP gene

2007
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The role of MRAP in the functional expression of the melanocortin 2 receptor

2006
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Erratum: Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates (Nature Genetics (2005) 37 (1135-1140))

2005 Nature Genetics
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An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene

2004 British Journal of Ophthalmology
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Familial Glucocorticoid Deficiency type 2 is associated with mutations in a novel gene encoding a small single transmembrane domain protein

2004
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The X-linked retinitis pigmentosa protein RP2 links the plasma membrane and the cytoskeleton

2003 Investigative Ophthalmology & Visual Science
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