Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations
Autore:
Noone, PG; Knowles, MR;
Indirizzi:
Univ N Carolina, Dept Med, Pulm Res & Treatment Ctr, Div Pulm, Chapel Hill, NC 27599 USA Univ N Carolina Chapel Hill NC USA 27599 Pulm, Chapel Hill, NC 27599 USA
Titolo Testata:
RESPIRATORY RESEARCH
fascicolo: 6, volume: 2, anno: 2001,
pagine: 328 - 332
SICI:
1465-993X(2001)2:6<328:'DPAWC>2.0.ZU;2-1
Fonte:
ISI
Lingua:
ENG
Soggetto:
DISSEMINATED BRONCHIECTASIS; DELTA-F508 HETEROZYGOSITY; IDIOPATHIC PANCREATITIS; ASTHMA; PREDISPOSITION; RECURRENT; MEN;
Keywords:
asthma; cystic fibrosis (CF); cystic fibrosis transmembrane regulator (CFTR); mutations; pancreatitis; phenotype;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
24
Recensione:
Indirizzi per estratti:
Indirizzo: Noone, PG Univ N Carolina, Dept Med, Pulm Res & Treatment Ctr, Div Pulm, CB 7248, Chapel Hill, NC 27599 USA Univ N Carolina CB 7248 Chapel Hill NC USA 27599 l, NC 27599 USA
Citazione:
P.G. Noone e M.R. Knowles, "'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations", RESPIR RES, 2(6), 2001, pp. 328-332

Abstract

Cystic fibrosis is a genetic disease that is associated with abnormal sweat electrolytes, sino-pulmonary disease, exocrine pancreatic insufficiency, and male infertility. Insights into genotype/phenotype relations have recently been gained in this disorder. The strongest relationship exists between'severe' mutations in the gene that encodes the cystic fibrosis transmembrane regulator (CFTR) and pancreatic insufficiency. The relationship between'mild' mutations, associated with residual CFTR function, and expression of disease is less precise. Atypical 'mild' mutations in the CFTR gene have been linked to late-onset pulmonary disease, congenital bilateral absence of the vas deferens, and idiopathic pancreatitis. Less commonly, sinusitis, allergic bronchopulmonary aspergillosis, and possibly even asthma may also be associated with mutations in the CFTR gene, but those syndromes predominantly reflect non-CFTR gene modifiers and environmental influences.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/04/20 alle ore 03:26:01