ArticleHuman genome variation2016
Deep resequencing of
Article in Human genome variation, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00037765 (Gene Modifiers of Cystic Fibrosis Lung Disease), which is not on this map. Cited by 20 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Gene Modifiers of Cystic Fibrosis Lung Disease
Who cites it
20 citing papers in PubMed, 42 citations in OpenAlex.
- Estimation of Chloride Channel Residual Function and Assessment of Targeted Drugs Efficiency in the Presence of a Complex Allele [L467F;F508del] in theInternational journal of molecular sciences · 2024Article
- Small-molecule correctors divert CFTR-F508del from ERAD by stabilizing sequential folding states.Molecular biology of the cell · 2024Article
- Mutation accumulation in H. sapiens F508del CFTR countermands dN/dS type genomic analysis.PloS one · 2024Article
- Tissue-Specific Regulation ofInternational journal of molecular sciences · 2023Review
- Personalized Selection of a CFTR Modulator for a Patient with a Complex Allele [L467F;F508del].Current issues in molecular biology · 2022Article
- Evaluation of the Complex p.[Leu467Phe;Phe508del] CFTR Allele in the Intestinal Organoids Model: Implications for Therapy.International journal of molecular sciences · 2022Article
- Modulator Therapy in Cystic Fibrosis Patients withJournal of personalized medicine · 2022Article
- High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients.BMC genomics · 2022Article
- Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.Orphanet journal of rare diseases · 2022Article
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- Article
- Genomic, transcriptomic, and protein landscape profile of CFTR and cystic fibrosis.Human genetics · 2021Article
- Rare variant association testing in the non-coding genome.Human genetics · 2020Review
- Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges.Genes · 2020Review
- Increased expression of anion transporter SLC26A9 delays diabetes onset in cystic fibrosis.The Journal of clinical investigation · 2020Article
- Acquired Cystic Fibrosis Transmembrane Conductance Regulator Dysfunction and Radiographic Bronchiectasis in Current and Former Smokers: A Cross-Sectional Study.Annals of the American Thoracic Society · 2019Article
- Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients.The Journal of molecular diagnostics : JMD · 2019Article
- Novel long-range regulatory mechanisms controlling PKD2 gene expression.BMC genomics · 2018Article
- Alteration of protein function by a silent polymorphism linked to tRNA abundance.PLoS biology · 2017Article
- Cystic fibrosis gene mutations and polymorphisms in Saudi men with infertility.Annals of Saudi medicineArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
Extensive phenotypic variability is commonly observed in individuals with Mendelian disorders, even among those with identical genotypes in the disease-causing gene. To determine whether variants within and surrounding
Identifiers
What OpenQuestion holds
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.