Document Detail

Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway.
MedLine Citation:
PMID:  19258709     Owner:  NLM     Status:  MEDLINE    
Noonan syndrome (NS) is one of the most common syndromes transmitted by a mendelian mode. In recent years, germline mutations that affect components of the RAS-MAPK (mitogen-activated protein kinase) pathway were shown to be involved in the pathogenesis of NS and four rare syndromes with clinical features overlapping with NS: Leopard syndrome, cardio-facio-cutaneous syndrome, Costello syndrome and neurofibromatosis type 1. Several hormones act through receptors that stimulate the RAS-MAPK pathway, and therefore, NS and related disorders represent a remarkable opportunity to study the implication of the RAS-MAPK pathway in different endocrine systems. Additionally, children with NS frequently are referred to the endocrinologist because of short stature, delayed puberty and/or undescended testes in males. In this paper, we review the diagnostic, clinical and molecular aspects of NS and NS-related disorders.
Alexander A L Jorge; Alexsandra C Malaquias; Ivo J P Arnhold; Berenice B Mendonca
Related Documents :
11861489 - A mouse model of alagille syndrome: notch2 as a genetic modifier of jag1 haploinsuffici...
16908739 - Hepatocerebral mitochondrial dna depletion syndrome caused by deoxyguanosine kinase (dg...
11484199 - Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13.
10353779 - Phenotypic findings of cowden syndrome and bannayan-zonana syndrome in a family associa...
18518849 - Pharmacogenetics of gilbert's syndrome.
20456449 - Ercc6 founder mutation identified in finnish patients with cofs syndrome.
9051869 - Gastritis classified in accordance with the sydney system in patients with primary sjög...
463839 - Noonan's syndrome. iq and specific disabilities.
22584719 - Primary hyperparathyroidism in multiple endocrine neoplasia type 1: when to perform sur...
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review     Date:  2009-03-04
Journal Detail:
Title:  Hormone research     Volume:  71     ISSN:  1423-0046     ISO Abbreviation:  Horm. Res.     Publication Date:  2009  
Date Detail:
Created Date:  2009-04-02     Completed Date:  2009-06-25     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0366126     Medline TA:  Horm Res     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  185-93     Citation Subset:  IM    
Copyright Information:
2009 S. Karger AG, Basel.
Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Diagnosis, Differential
Genes, ras*
Germ-Line Mutation
Human Growth Hormone / physiology
MAP Kinase Signaling System / genetics*,  physiology
Neoplasms / genetics
Noonan Syndrome / diagnosis,  genetics*
ras Proteins / genetics,  physiology
Reg. No./Substance:
12629-01-5/Human Growth Hormone; EC Proteins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Activation of Bacillus subtilis Ugd by the BY-kinase PtkA proceeds via phosphorylation of its residu...
Next Document:  Role of steroid hormone coregulators in health and disease.