The cystic fibrosis gene: a molecular genetic perspective

LC Tsui, R Dorfman - Cold Spring Harbor …, 2013 - perspectivesinmedicine.cshlp.org
The positional cloning of the gene responsible for cystic fibrosis (CF) was the important first
step in understanding the basic defect and pathophysiology of the disease. This study aims …

Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding …

P Fanen, N Ghanem, M Vidaud, C Besmond, J Martin… - Genomics, 1992 - Elsevier
The spectrum of cystic fibrosis (CF) mutations was determined in 105 patients by using
denaturing gradiert gel electrophoresis to screen the entire coding regiors and adjacent …

[HTML][HTML] The genetics and genomics of cystic fibrosis

N Sharma, GR Cutting - Journal of Cystic Fibrosis, 2020 - Elsevier
Genetics is the branch of biology concerned with study of individual genes and how they
work whereas genomics is involved with the analysis of all genes and their interactions. Both …

The molecular basis for disease variability in cystic fibrosis

B Kerem, E Kerem - European journal of human genetics, 1996 - nature.com
Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the cystic
fibrosis transmembrane conductance regulator (CFTR) gene. The disease is characterized …

A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models

JM Chen, C Cutler, C Jacques, G Bœuf… - Molecular Biology …, 2001 - academic.oup.com
Over the past decade, nearly 1,000 variants have been identified in the cystic fibrosis
transmembrane conductance regulator (CFTR) gene in classic and atypical cystic fibrosis …

[HTML][HTML] Extensive sequencing of the cystic fibrosis transmembrane regulator gene: assay validation and unexpected benefits of developing a comprehensive test

CM Strom, D Huang, C Chen, A Buller, M Peng… - Genetics in …, 2003 - nature.com
Purpose: To develop a sequencing assay for the CFTR gene to identify mutations in patients
with cystic fibrosis (CF). Methods: An automated assay format was developed to sequence …

Genetics of cystic fibrosis

ST Lommatzsch, R Aris - Seminars in Respiratory and critical …, 2009 - thieme-connect.com
Cystic fibrosis (CF) is a complicated disease involving many organ systems. Identification of
the cystic fibrosis transmembrane regulator (CFTR) genetic code has not only enhanced our …

Comparative genomic sequence analysis of the human and mouse cystic fibrosis transmembrane conductance regulator genes

RE Ellsworth, DC Jamison… - Proceedings of the …, 2000 - National Acad Sciences
The identification of the cystic fibrosis transmembrane conductance regulator gene (CFTR)
in 1989 represents a landmark accomplishment in human genetics. Since that time, there …

[HTML][HTML] Molecular and functional analysis of the large 5′ promoter region of CFTR gene revealed pathogenic mutations in CF and CFTR-related disorders

S Giordano, F Amato, A Elce, M Monti… - The Journal of Molecular …, 2013 - Elsevier
Patients with cystic fibrosis (CF) manifest a multisystemic disease due to mutations in the
gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR); despite …

Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients

T Dörk, F Mekus, K Schmidt, J Boßhammer, R Fislage… - Human genetics, 1994 - Springer
We have conducted a comprehensive study of the molecular basis of cystic fibrosis (CF) in
350 German CF patients. A screening approach based on single-strand conformation …