RNA splicing and disease: animal models to therapies

M Montes, BL Sanford, DF Comiskey, DS Chandler - Trends in Genetics, 2019 - cell.com
Alternative splicing of pre-mRNA increases genetic diversity, and recent studies estimate
that most human multiexon genes are alternatively spliced. If this process is not highly …

CFTR, mucins, and mucus obstruction in cystic fibrosis

SM Kreda, CW Davis, MC Rose - Cold Spring …, 2012 - perspectivesinmedicine.cshlp.org
Mucus pathology in cystic fibrosis (CF) has been known for as long as the disease has been
recognized and is sometimes called mucoviscidosis. The disease is marked by mucus …

DNA cloning by homologous recombination in Escherichia coli

Y Zhang, JPP Muyrers, G Testa, AF Stewart - Nature biotechnology, 2000 - nature.com
The cloning of foreign DNA in Escherichia coli episomes is a cornerstone of molecular
biology. The pioneering work in the early 1970s, using DNA ligases to paste DNA into …

Size matters: use of YACs, BACs and PACs in transgenic animals

P Giraldo, L Montoliu - Transgenic research, 2001 - Springer
In 1993, several groups, working independently, reported the successful generation of
transgenic mice with yeast artificial chromosomes (YACs) using standard techniques. The …

Animal and model systems for studying cystic fibrosis

BH Rosen, M Chanson, LR Gawenis, J Liu… - Journal of Cystic …, 2018 - Elsevier
The cystic fibrosis (CF) field is the beneficiary of five species of animal models that lack
functional cystic fibrosis transmembrane conductance regulator (CFTR) channel. These …

Aminoglycoside suppression of a premature stop mutation in a Cftr–/– mouse carrying a human CFTR-G542X transgene

M Du, JR Jones, J Lanier, KM Keeling… - Journal of molecular …, 2002 - Springer
Cystic fibrosis (CF) is caused by mutations in the gene encoding the cystic fibrosis
transmembrane conductance regulator (CFTR) protein. Since~ 5% of all mutant CF alleles …

[HTML][HTML] Rescue of the embryonic lethal hematopoietic defect reveals a critical role for GATA‐2 in urogenital development

Y Zhou, KC Lim, K Onodera, S Takahashi, J Ohta… - The EMBO …, 1998 - embopress.org
Mutations resulting in embryonic or early postnatal lethality could mask the activities of any
gene in unrelated and temporally distinct developmental pathways. Targeted inactivation of …

Gene and cell therapy for cystic fibrosis: from bench to bedside

M Conese, F Ascenzioni, AC Boyd, C Coutelle… - Journal of Cystic …, 2011 - Elsevier
Clinical trials in cystic fibrosis (CF) patients established proof-of-principle for transfer of the
wild-type cystic fibrosis transmembrane conductance regulator (CFTR) gene to airway …

The mousetrap: what we can learn when the mouse model does not mimic the human disease

SH Elsea, RE Lucas - ILAR journal, 2002 - academic.oup.com
In recent years, mouse models for human metabolic diseases have become commonplace
because the information gained from in vivo study of biochemical pathways is invaluable …

The CFTR gene and regulation of its expression

VA McCarthy, A Harris - Pediatric pulmonology, 2005 - Wiley Online Library
The cystic fibrosis transmembrane conductance regulator gene (CFTR) shows clear
temporal and developmental regulation of its expression. However, there are few well …