논문KCI 등재
Aberrant Splicing in PKD2 in a Family of Korean Patients With Autosomal Dominant Polycystic Kidney Disease
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참고문헌 (11)
- 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)
- Lanktree MB, "Insights into autosomal dominant polycystic kidney disease from genetic studies", Clin J Am Soc Nephrol, 16, pp.790~799 (2021)
- Jaganathan K, "Predicting splicing from primary sequence with deep learning", Cell, 176, pp.535~548 (2019)
- Litchfield K, "Escape from nonsense-mediated decay associates with anti-tumor immunogenicity", Nat Commun, 11, pp.3800~ (2020)
- Jumper J, "Highly accurate protein structure prediction with AlphaFold", Nature, 596, pp.583~589 (2021)
- Meng EC, "UCSF ChimeraX : tools for structure building and analysis", Protein Sci, 32, pp.e4792~ (2023)
- Shen PS, "The structure of the polycystic kidney disease channel PKD2 in lipid nanodiscs", Cell, 167, pp.763~773 (2016)
- 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)
- 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
- 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
- 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)
관련 논문AI추천
Clinical and genetic characteristics of Korean autosomal dominant polycystic kidney disease patients박혜인, Hyunjin Ryu, Kook-Hwan Oh, Yong-Chul Kim, Yun Kyu Oh대한내과학회 · The Korean Journal of Internal Medicine2021 · 제36권 제4호Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome권아림, 김명신, 김성준, 김용구, 신석준, 윤혜은, 이승옥, 채효진, 제갈동욱대한진단검사의학회 · Annals of Laboratory Medicine2015 · 제35권 제1호First Identifcation of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy김승민, 박형준, 신하영, 이정환, 이지현, 최영철대한신경과학회 · Journal of Clinical Neurology2016 · 제12권 제1호다낭성 신질환에 동반된 확장성 심근증 1예전은석, 최성준, 황승덕한국심초음파학회 · Journal of Cardiovascular Imaging2001 · 제9권 제2호A Novel Mutation in the XLRS1 Gene in a Korean Family with X-linked RetinoschisisHyoung Jun Koh, Nam Soo Jwa, Oh Woong Kwon, Sung Chul Lee, Sung Soo Kim대한안과학회 · Korean Journal of Ophthalmology2006 · 제20권 제1호A Novel UMOD Mutation (c.187T>C) in a Korean Family with Juvenile Hyperuricemic Nephropathy권기영, 기창석, 이미나, 정지은, 허우성대한진단검사의학회 · Annals of Laboratory Medicine2013 · 제33권 제4호
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