ReviewCold Spring Harbor perspectives in medicine2013
The cystic fibrosis gene: a molecular genetic perspective.
Review in Cold Spring Harbor perspectives in medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed, 81 citations in OpenAlex.
- Review
- A roadmap to precision medicine through post-genomic electronic medical records.Nature communications · 2025Review
- Neutrophil extracellular traps and interleukin-1β in cystic fibrosis lung disease.Frontiers in immunology · 2025Review
- Identification of Novel Modifier Genes Associated With Pain in Cystic Fibrosis: An In Silico Gene Discovery.Human mutation · 2025Article
- Article
- Organic Synthesis and Current Understanding of the Mechanisms of CFTR Modulator Drugs Ivacaftor, Tezacaftor, and Elexacaftor.Molecules (Basel, Switzerland) · 2024Review
- The impact of genomic distance on enhancer-promoter interactions at the CFTR locus.Journal of cellular and molecular medicine · 2024Article
- CRISPR/Cas9 bioluminescence-based assay for monitoring CFTR trafficking to the plasma membrane.Life science alliance · 2024Article
- Atomistic modelling and NMR studies reveal that gallium can target the ferric PQS uptake system inMicrobiology (Reading, England) · 2023Article
- Quantitative Evaluation ofGenes · 2023Article
- Cellular heterogeneity in the 16HBE14oPhysiological reports · 2023Article
- Molecular targets for cystic fibrosis and therapeutic potential of monoclonal antibodies.Saudi pharmaceutical journal : SPJ : the official publication of the Saudi Pharmaceutical Society · 2022Review
- Elucidating the Structural Impacts of Protein InDels.Biomolecules · 2022Article
- A retrospective cohort analysis of the Yale pediatric genomics discovery program.American journal of medical genetics. Part A · 2022Article
- OTX2 regulates CFTR expression during endoderm differentiation and occupies 3' cis-regulatory elements.Developmental dynamics : an official publication of the American Association of Anatomists · 2021Article
- Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is ExtensiveGenes · 2021Article
- Complex consequences of Cantu syndrome SUR2 variant R1154Q in genetically modified mice.JCI insight · 2021Article
- Positive epistasis between disease-causing missense mutations and silent polymorphism with effect on mRNA translation velocity.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Quantitative Evaluation of CFTR Pre-mRNA Splicing Dependent on the (TG)mTn Poly-Variant Tract.Diagnostics (Basel, Switzerland) · 2021Article
- Mutations of the cystic fibrosis transmembrane conductance regulator gene in males with congenital bilateral absence of the vas deferens: Reproductive implications and genetic counseling (Review).Molecular medicine reports · 2020Review
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 to provide a historical account of key developments as well as factors that contributed to the cystic fibrosis transmembrane conductance regulator (CFTR) gene identification work. A redefined gene structure based on the full sequence of the gene derived from the Human Genome Project is presented, along with brief reviews of the transcription regulatory sequences for the CFTR gene, the role of mRNA splicing in gene regulation and CF disease, and, various related sequences in the human genome and other species. Because CF mutations and genotype-phenotype correlations are covered by our colleagues (Ferec C, Cutting GR. 2012. Assessing the disease-liability of mutations in CFTR. Cold Spring Harb Perspect Med doi: 10.1101/cshperspect.a009480), we only attempt to provide an introduction of the CF mutation database here for reference purposes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.