Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature-Reference-Cited by-同舟云学术

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

Published:2015-03-16 Issue:4 Volume:36 Page:474-481
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Wang Sophie R.¹,Jacobsen Christina M.²³,Carmichael Heather⁴,Edmund Aaron B.⁵,Robinson Jerid W.⁶,Olney Robert C.⁷,Miller Timothy C.⁸,Moon Jennifer E.²,Mericq Veronica⁹,Potter Lincoln R.⁵⁶,Warman Matthew L.³⁴¹⁰¹¹,Hirschhorn Joel N.²¹⁰¹²,Dauber Andrew²¹²¹³

Affiliation:

1. Genome Institute of Singapore; Singapore

2. Division of Endocrinology; Boston Children's Hospital; Boston Massachusetts

3. Orthopaedic Research Laboratories; Department of Orthopaedic Surgery; Boston Children's Hospital; Boston Massachusetts

4. Harvard Medical School; Boston Massachusetts

5. Department of Biochemistry; Molecular Biology and Biophysics; University of Minnesota; Minneapolis Minnesota

6. Department of Pharmacology; University of Minnesota; Minneapolis Minnesota

7. Division of Endocrinology; Nemours Children's Clinic; Jacksonville Florida

8. Massachusetts College of Pharmacy and Health Sciences; Boston Massachusetts

9. Institute of Maternal and Child Research; Faculty of Medicine; University of Chile; Santiago Chile

10. Department of Genetics; Harvard Medical School; Boston Massachusetts

11. Howard Hughes Medical Institute; Boston Massachusetts

12. Program in Medical and Population Genetics; Broad Institute; Cambridge Massachusetts

13. Division of Endocrinology; Cincinnati Children's Hospital Medical Center; Cincinnati Ohio

Funder

National Institutes of Health Award

Sequencing Core Facility of the Molecular Genetics Core Facility at Boston Children's Hospital

NIH

March of Dimes

Genetech Center for Clinical Research in Endocrinology

Howard Hughes Medical Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference27 articles.

1. A map of human genome variation from population-scale sequencing;Abecasis;Nature,2010

2. Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature;Amano;J Clin Endocrinol Metab,2014

3. Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux;Bartels;Am J Hum Genet,2004

4. Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation;Bocciardi;Hum Mutat,2007

5. Dwarfism and early death in mice lacking C-type natriuretic peptide;Chusho;Proc Natl Acad Sci USA,2001

Cited by 87 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Pubertal growth in children born small for gestational age (SGA) with persistent short stature (SGA-SS). Growth hormone treatment outcomes from data of the Czech countywide REPAR database;Česko-slovenská pediatrie;2024-01-31

2. Identification of novel genes including NAV2 associated with isolated tall stature;Frontiers in Endocrinology;2023-12-12

3. Exploring the Genetic Causes for Postnatal Growth Failure in Children Born Non-Small for Gestational Age;Journal of Clinical Medicine;2023-10-13

4. Two new patients with acromesomelic dysplasia, PRKG2 type—identification and characterization of the first missense variant;European Journal of Human Genetics;2023-10-04

5. Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant;EUR J HUM GENET;2023