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Aberrant Splicing in PKD2 in a Family of Korean Patients With Autosomal Dominant Polycystic Kidney Disease

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참고문헌 (11)

  1. Borrego Utiel FJ, "How to estimate kidney growth in patients with autosomal dominant polycystic kidney disease", J Am Soc Nephrol, 34, pp.944~950 (2023)
  2. Lanktree MB, "Insights into autosomal dominant polycystic kidney disease from genetic studies", Clin J Am Soc Nephrol, 16, pp.790~799 (2021)
  3. Jaganathan K, "Predicting splicing from primary sequence with deep learning", Cell, 176, pp.535~548 (2019)
  4. Litchfield K, "Escape from nonsense-mediated decay associates with anti-tumor immunogenicity", Nat Commun, 11, pp.3800~ (2020)
  5. Jumper J, "Highly accurate protein structure prediction with AlphaFold", Nature, 596, pp.583~589 (2021)
  6. Meng EC, "UCSF ChimeraX : tools for structure building and analysis", Protein Sci, 32, pp.e4792~ (2023)
  7. Shen PS, "The structure of the polycystic kidney disease channel PKD2 in lipid nanodiscs", Cell, 167, pp.763~773 (2016)
  8. Richards S, "Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~424 (2015)
  9. Walker LC, "Using the ACMG", AMP framework to capture evidence related to predicted and observed impact on splicing : recommendations from the ClinGen SVI Splicing Subgroup, 2023, pp.110, 1046~1067
  10. Biesecker LG, "ClinGen guidance for use of the PP1", BS4 co-segregation and PP4phenotype specificity criteria for sequence variant pathogenicity classification, 2024, pp.111, 24~38
  11. Kim J, "Reverse transcription-PCR-based Sanger sequencing-confirmed exon-skipping effect of a novel GEN1 intronic variant (c.1408+4A>G)", Ann Lab Med, 44, pp.188~191 (2024)

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