Article
Measurements of CFTR-mediated Cl- secretion in human rectal biopsies constitute a robust biomarker for Cystic Fibrosis diagnosis and prognosis.
PloS one - 1 Jan 2012
Sousa Marisa, Servidoni Maria F, Vinagre Adriana M, Ramalho Anabela S, Bonadia Luciana C, Felício Verónica, Ribeiro Maria A, Uliyakina Inna, Marson Fernando A, Kmit Arthur, Cardoso Silvia R, Ribeiro José D, Bertuzzo Carmen S, Sousa Lisete, Kunzelmann Karl, Ribeiro Antônio F, Amaral Margarida D
Abstract excerpt
BACKGROUND: Cystic Fibrosis (CF) is caused by ∼1,900 mutations in the CF transmembrane conductance regulator (CFTR) gene encoding for a cAMP-regulated chloride (Cl(-)) channel expressed in several epithelia. Clinical features are dominated by respiratory symptoms, but there is variable organ involvement thus causing diagnostic dilemmas, especially for non-classic cases. METHODOLOGY/PRINCIPAL FINDINGS: To further...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.