Article
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.
American journal of human genetics - 1 Jul 2004
Bartels Cynthia F, Bükülmez Hulya, Padayatti Pius, Rhee David K, van Ravenswaaij-Arts Conny, Pauli Richard M, Mundlos Stefan, Chitayat David, Shih Ling-Yu, Al-Gazali Lihadh I, Kant Sarina, Cole Trevor, Morton Jenny, Cormier-Daire Valérie, Faivre Laurence, Lees Melissa, Kirk Jeremy, Mortier Geert R, Leroy Jules, Zabel Bernhard, Kim Chong Ae, Crow Yanick, Braverman Nancy E, van den Akker Focco, Warman Matthew L
Abstract excerpt
The homodimeric transmembrane receptor natriuretic peptide receptor B (NPR-B [also known as guanylate cyclase B, GC-B, and GUC2B]; gene name NPR2) produces cytoplasmic cyclic GMP from GTP on binding its extracellular ligand, C-type natriuretic peptide (CNP). CNP has previously been implicated in the regulation of skeletal growth in transgenic and knockout mice. The autosomal recessive skeletal dysplasia known as...
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