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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Role of the Natriuretic Peptide System in Normal Growth and Growth Disorders

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Vasques, Gabriela A. [1, 2] ; Arnhold, Ivo J. P. [2] ; Jorge, Alexander A. L. [1]
Total Authors: 3
[1] Univ Sao Paulo, Lab Endocrinol Celular Mol LIM 25, Unidade Endocrinol Genet, Sao Paulo - Brazil
[2] Univ Sao Paulo, Fac Med, Disciplina Endocrinol, Lab Hormonios Genet Mol LIM, Unidade Endocrinol Desenvolvimento, Hosp Clin, Sao Paulo - Brazil
Total Affiliations: 2
Document type: Review article
Source: Hormone Research in Paediatrics; v. 82, n. 4, p. 222-229, 2014.
Web of Science Citations: 24

The C-type natriuretic peptide (CNP) and its receptor (NPR-B) are recognized as important regulators of longitudinal growth. Animal models involving CNP or NPR-B genes (Nppc or Npr2) support the fundamental role of CNP/NPR-B for endochondral ossification. Studies with these animals allow the development of potential drug therapies for dwarfism. Polymorphisms in two genes related to the CNP pathway have been implicated in height variability in healthy individuals. Biallelic loss-of-function mutations in NPR-B gene (NPR2) cause acromesomelic dysplasia type Maroteux, a skeletal dysplasia with extremely short stature. Heterozygous mutations in NPR2 are responsible for nonsyndromic familial short stature. Conversely, heterozygous gain-of-function mutations in NPR2 cause tall stature, with a variable phenotype. A phase 2 multicenter and multinational trial is being developed to evaluate a CNP analog treatment for achondroplasia. Pediatricians and endocrinologists must be aware of growth disorders related to natriuretic peptides, although there is still much to be learned about its diagnostic and therapeutic use. (C) 2014 S. Karger AG, Basel (AU)

FAPESP's process: 11/11801-9 - Search for mutations in C-type natriuretic peptide receptor gene (NPR2) in individuals with idiopathic short stature
Grantee:Gabriela de Andrade Vasques
Support type: Scholarships in Brazil - Doctorate (Direct)
FAPESP's process: 13/03236-5 - New approaches and methodologies in molecular-genetic studies of growth and pubertal development disorders
Grantee:Alexander Augusto de Lima Jorge
Support type: Research Projects - Thematic Grants