Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature

Identification and Functional Characterization of Two NovelNPR2Mutations in Japanese Patients With Short Stature

(2014) Naoko Amano et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene

(2013) Kohji Miura et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A human skeletal overgrowth mutation increases maximal velocity and blocks desensitization of guanylyl cyclase-B

(2013) Jerid W. Robinson et al.   BONE

Large-Scale Pooled Next-Generation Sequencing of 1077 Genes to Identify Genetic Causes of Short Stature

(2013) Sophie R. Wang et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

An Activating Mutation in the Kinase Homology Domain of the Natriuretic Peptide Receptor-2 Causes Extremely Tall Stature Without Skeletal Deformities

(2013) Sabine E. Hannema et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature

(2013) Gabriela A. Vasques et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

An Overgrowth Disorder Associated with Excessive Production of cGMP Due to a Gain-of-Function Mutation of the Natriuretic Peptide Receptor 2 Gene

(2012) Kohji Miura et al.   PLoS One

ATP Potentiates Competitive Inhibition of Guanylyl Cyclase A and B by the Staurosporine Analog, Gö6976

(2011) Jerid W. Robinson et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

(2011) Manuel A Rivas et al.   NATURE GENETICS

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Thirty-five-year trends in cardiovascular risk factors in Finland

(2009) E. Vartiainen et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

(2008) Matthew J Rock et al.   NATURE GENETICS

Reduced ability of C-type natriuretic peptide (CNP) to activate natriuretic peptide receptor B (NPR-B) causes dwarfism in lbab−/− mice

(2008) Andrea R. Yoder et al.   PEPTIDES