Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.G551D
Back to variants list

CFTR

NM_000492.4:p.G551D

Associated Papers

Genotype-Phenotype Correlation in Children With Cystic Fibrosis From India: A Multicentric Study.

Jat KR et al.

Clinical Genetics, 2026

Large variations in total and allele-specific transcript expression in a disease mutation-independent manner.

Freyberg M et al.

Scientific Reports, 2026

A therapeutic revolution: CFTR modulators in cystic fibrosis and their impacts on pregnant women and the fetus.

Denef M et al.

Journal of Perinatology : Official Journal of the California Perinatal Association, 2026

Therapeutic hopes for CFTR-related recurrent pancreatitis: a case-series.

Gohy S et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2026

RFFL-mediated protein quality control limits functional rescue of TRID-CFTR modulator combination therapy for cystic fibrosis nonsense mutations.

Tateishi H et al.

Cellular and Molecular Life Sciences : Cmls, 2026

Translating Emerging Data for Fetal Treatment of Cystic Fibrosis.

Zaretsky MV et al.

Prenatal Diagnosis, 2026

EGFR inhibitor-resistant lung cancers exhibit collateral sensitivity to a covalent, cysteine-independent KEAP1 oligomerizing molecular bridge.

Bassil CF et al.

Nature Communications, 2026

41535280 (PubMed )
Supplement: 41467_2026_68424_MOESM3_ESM.xlsx › Sheet1

Barriers to the Pharmacologic Rescue of W1282X CFTR.

Manfredi C et al.

Biochemistry, 2026

Personalized Medicine in Cystic Fibrosis: Characterization of Eight Rare CFTR Variants in Intestinal Organoids and Cellular Models.

Railean V et al.

Molecular Diagnosis & Therapy, 2026

Genetic and clinical profile of neonates with meconium ileus: A case series.

Angadi C et al.

Tropical Doctor, 2026

Persistent plasma and RBC fatty acid abnormalities in children and adolescents with cystic fibrosis on highly effective CFTR modulators.

Yuzyuk T et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2026

Advances in cystic fibrosis: CFTR modulator triple combinations.

Burgel PR et al.

The European Respiratory Journal, 2026

Strategies for the identification of people with cystic fibrosis responsive to CFTR modulator triple combinations.

Burgel PR

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2026

Trikafta restores thermodynamic coupling between two nucleotide binding domains for potentiating CFTR activity.

Wang G

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2026

Impact of Cystic Fibrosis Transmembrane Conductance Regulator Modulating Therapies on Liver Transplant Outcomes.

Naimimohasses S et al.

Gastro Hep Advances, 2026

Repurposing of ivacaftor shows potential to treat ROR1 expressing high-grade serous ovarian cancer.

Liu D et al.

Therapeutic Advances in Medical Oncology, 2026

Beyond the Surface: Novel Therapy Approach for Pancreatitis in the Setting of CFTR Dysfunction.

Wright BA et al.

Case Reports in Gastrointestinal Medicine, 2026

Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.

Marianski K et al.

Human Genetics, 2025

41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2

LUNAR LNP delivery of CFTR mRNA restores channel function and improves mucociliary clearance in ferret cystic fibrosis airways.

Liu X et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025

Beyond the mutations: spatiotemporal regulation of CFTR by cAMP and calcium signaling in epithelial physiology and cystic fibrosis.

Varga A et al.

Cellular & Molecular Biology Letters, 2025

General trends in the calnexin-dependent expression and pharmacological rescue of clinical CFTR variants.

Tedman A et al.

Elife, 2025

41379933 (PubMed )
Supplement: elife-107180-supp1.xlsx › CANX_KO_Counts

Ligase-mediated programmable genomic integration (L-PGI).

Nan AX et al.

Nature Communications, 2025

41372199 (PubMed )
Supplement: 41467_2025_67255_MOESM1_ESM.pdf

Intrauterine Treatment in Two Fetuses Affected by Cystic Fibrosis: To Whom and Since When? Report of Cases.

Martínez Sánchez N et al.

Fetal Diagnosis and Therapy, 2025

Novel insight into CFTR gene's single nucleotide variants classification via in-silico analysis of a conserved site.

Rafique H et al.

Journal of Computer-aided Molecular Design, 2025

CFTR Modulator Response in Nasal Organoids Derived from People with Cystic Fibrosis.

Lo Cicero S et al.

Cells, 2025

Cystic fibrosis risk variants confer protection against inflammatory bowel disease.

Yu M et al.

Cell Genomics, 2025

41330381 (PubMed )
Supplement: mmc3.xlsx › Sheet1

Cystic fibrosis-related kidney disease-emerging morbidity and disease modifier.

Hart M et al.

Pediatric Nephrology (berlin, Germany), 2025

Beyond Carrier Status: CFTR Heterozygosity as an Overlooked Clinical Risk Factor for Pancreatitis.

Richter LD et al.

Clinical Genetics, 2025

40468859 (PubMed )
Supplement: CGE-108-726-s001.xlsx › S1_Variant_Class

Peptide CIGB-552 has a synergistic effect on CFTR-F508del when combined with elexacaftor/tezacaftor/ivacaftor triple therapy for cystic fibrosis.

Simonneau B et al.

British Journal of Pharmacology, 2025

Gene Editing for Cystic Fibrosis: Advances and Prospects of CRISPR-Cas9 Therapy.

Khurram I et al.

Cell Biology International, 2025

Next generation DNA sequencing data analysis and its application in clinical genomics.

Beura A et al.

Pathology, Research and Practice, 2025

Characterisation of pharmacogenomic variation in the Shetland and Orkney Isles in Scotland.

Twesigomwe D et al.

Scientific Reports, 2025

Molecular Prosthetics and CFTR Modulators Additively Increase Secretory HCO3- Flux in Cystic Fibrosis Airway Epithelia.

Celis N et al.

Acs Chemical Biology, 2025

In vivo conformational space and defects of misfolded CFTR variants by covalent protein painting.

Pankow S et al.

Nature Communications, 2025

CFTR correctors potentiate gating mutants causing cystic fibrosis.

Castanier S et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2025

Effect of elexacaftor and bamocaftor on the metabolic and thermal stability of the F508del-CFTR protein in human airway epithelial cells.

Carrez T et al.

American Journal of Physiology. Lung Cellular and Molecular Physiology, 2025

Cystic fibrosis as a paradigmatic disease in bringing science to the bedside.

Amaral MD et al.

Febs Letters, 2025

PRenatal mOdulator treatment to PrEvent CF complicaTions (PROTECT) workshop report.

Szentpetery S et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2025

Successful Desensitisation With Cystic Fibrosis Transmembrane Conductance Regulator Modulatory Drugs in Delayed Cutaneous Hypersensitivity Reactions.

Kazancioglu A et al.

Journal of Paediatrics and Child Health, 2025

Efficacy of elexacaftor/tezacaftor/ivacaftor in non-cystic fibrosis bronchiectasis patients with a single pathogenic CFTR mutation: a retrospective cohort analysis.

Papadakis L et al.

Erj Open Research, 2025

41189580 (PubMed )
Supplement: 00007-2025.SUPPLEMENT.pdf

When 25% Feels Like 100%: Confronting Recurrent Cystic Fibrosis Risk Across Consecutive Pregnancies.

Dasgupta S et al.

Cureus, 2025

Cystic Fibrosis and CFTR Modulators: The Impact on Bone Density, Muscle Mass and Strength in Children and Young Adolescents.

Iordanidou K et al.

Children (basel, Switzerland), 2025

Design and Characterization of 4D-710, an Aerosolized Gene Therapy for Cystic Fibrosis Lung Disease.

Calton MA et al.

American Journal of Respiratory Cell and Molecular Biology, 2025

A bibliometric analysis of cystic fibrosis transmembrane conductance regulators.

Araiqat B et al.

Monaldi Archives for Chest Disease = Archivio Monaldi Per Le Malattie Del Torace, 2025

Targeting the Aryl Hydrocarbon Receptor: The Potential of Indole Compounds in the Treatment of Cystic Fibrosis.

Hou S et al.

International Journal of Molecular Sciences, 2025

Generation of Region-specific Airway Basal Stem Cells from Human Pluripotent Stem Cells via Regulation of BMP-NOGGIN Axis.

Suzuki S et al.

Biorxiv : the Preprint Server for Biology, 2025

1–50 of 2991 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."