Sharma J, et al: A novel G542X CFTR rat model of cystic fibrosis is sensitive to nonsense mediated decay ... and additional approaches for rare CFTR mutations not yet addressed Core Function #2: ...

inhibition because the G542X mutation was introduced into the mouse Cftr locus and thus the transcript is spliced normally and is subject to NMD. CF null (CFTR-/-) rat: The first CF rat model, ...

In 1997, the National Institutes of Health convened a Consensus Development Conference on Cystic Fibrosis (CF). 1 The Consensus Conference recommended that genetic screening for CF mutations ...

New study suggests why mice with cystic fibrosis mutations can stave off bacterial infections in their lungs. People who have cystic fibrosis are susceptible to bacterial infections in their lungs.

Cystic fibrosis (CF) is a life-threatening genetic disease affecting multiple organ systems, with pancreatic dysfunction ...

An international study has identified two types of these so-called dysbioses in cystic fibrosis. They display ... Landmark Study Involving Babies in Ireland Supports Use of Cystic Fibrosis Drug in ...

Patients aged 6 to 11 years with cystic fibrosis receiving 24-week once-daily vanzacaftor/tezacaftor/deutivacaftor generally ...

Initially, CF was thought to be caused by nutritional deficiencies, persistent infection, and many others —until in 1989, ...

Inherited eye disorders such as retinitis pigmentosa (RP) leave millions grappling with progressive vision loss. At the heart ...

An additional 94 non-F508del CFTR mutations and a boxed warning on liver injury and liver failure were included in the updated prescribing information. 1507_1515del9, 2183A→G, A1067P ...