Detection of disease‐causing CFTR variants in state newborn screening programs
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.26209
Abstract: Newborn screening (NBS) algorithms for cystic fibrosis (CF) vary in the United State of America and include different cystic fibrosis transmembrane conductance regulator (CFTR) variants. CFTR variant distribution varies among racial and ethnic groups. read more here.
Keywords: state; detection disease; cftr variants; disease causing ... See more keywords
The CFTR K464N variant in fetuses potential increases premature birth risk in Chinese families
Sign Up to like & getrecommendations! Published in 2025 at "Human Genomics"
DOI: 10.1186/s40246-025-00736-7
Abstract: Global fertility decline has led to increased use of assisted reproductive technology (ART), raising concerns about genetic risks to offspring. This study aimed to investigate cystic fibrosis transmembrane conductance regulator (CFTR) variants in Chinese families… read more here.
Keywords: cftr; cftr variants; cftr k464n; k464n variant ... See more keywords
Modifier Factors of Cystic Fibrosis Phenotypes: A Focus on Modifier Genes
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms232214205
Abstract: Although cystic fibrosis (CF) is recognized as a monogenic disease, due to variants within the CFTR (Cystic Fibrosis Transmembrane Regulator) gene, an extreme clinical heterogeneity is described among people with CF (pwCF). Apart from the… read more here.
Keywords: cftr variants; modifier factors; modifier genes; fibrosis ... See more keywords
The Spectrum and Carrier Frequencies of Common Pathogenic Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations in Men from the General Population: The Role of Ethnicity
Sign Up to like & getrecommendations! Published in 2025 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms26146625
Abstract: Mutations in the CFTR gene, which cause the autosomal recessive disease cystic fibrosis, can also affect male fertility. The aim of this study was to investigate the spectrum and carrier frequency of common pathogenic CFTR… read more here.
Keywords: pathogenic cftr; carrier frequencies; spectrum carrier; carrier ... See more keywords