Research map: Case Report: Functional validation of a PKD1 c.7489 + 5G>A variant in an ADPKD family

Back to the article

Papers in this map

  1. Listening to silence and understanding nonsense: exonic mutations that affect splicing · Luca Cartegni · 2002 · 2237 citations · Cited by this paper
  2. Rethinking polyphenol oxidases in wheat: beyond the “low-PPO is always better” paradigm · 2026 · Related
  3. Roles and mechanisms of alternative splicing in cancer — implications for care · Sophie Bonnal · 2020 · 813 citations · Cited by this paper
  4. From toxicogenomics to predictive toxicology and exposomics: defining the next decade of gene–environment research · 2026 · Related
  5. Deep intronic mutations and human disease · Rita Vaz‐Drago · 2017 · 462 citations · Cited by this paper
  6. Machine learning prioritization identifies PANX1 as an inflammation-associated candidate regulator in lung adenocarcinoma · 2026 · Related
  7. Primary cilia as dynamic and diverse signalling hubs in development and disease · Pleasantine Mill · 2023 · 432 citations · Cited by this paper
  8. Assessment of paralogue annotation for improving diagnostic accuracy in CALM1, CALM2, and CALM3 genes · 2026 · Related
  9. Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes · Alan H. Handyside · 2009 · 413 citations · Cited by this paper
  10. Suspected parental gonadal/gonadosomatic mosaicism for a TINF2 mutation in two sisters with dyskeratosis congenita · 2026 · Related
  11. Ciliopathies and the Kidney: A Review · Dominique J. Mcconnachie · 2020 · 272 citations · Cited by this paper
  12. Case Report: First report of spinal stenosis in Imagawa-Matsumoto syndrome: a novel SUZ12 variant in an 11-year-old Chinese child · 2026 · Related
  13. Development and validation of a next-generation sequencing–based protocol for 24-chromosome aneuploidy screening of embryos · Francesco Fiorentino · 2014 · 250 citations · Cited by this paper
  14. Clinical application value of preconception and prenatal carrier screening in Yinchuan · 2026 · Related
  15. Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease · Katharina Hopp · 2019 · 83 citations · Cited by this paper
  16. A reproducible pretreatment mucosal-inflammatory-remodeling state is associated with induction-phase anti-tumor necrosis factor non-response in ulcerative colitis · 2026 · Related
  17. CI-SpliceAI—Improving machine learning predictions of disease causing splicing variants using curated alternative splice sites · Yaron Leander Strauch · 2022 · 70 citations · Cited by this paper
  18. Case Report: First case of paternal mosaicism in Snijders Blok–Fisher syndrome · 2026 · Related
  19. Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing · Amali C. Mallawaarachchi · 2021 · 67 citations · Cited by this paper
  20. A novel multivariate framework for functional gene networks enrichment analysis · 2026 · Related
  21. A Novel Long-Range PCR Sequencing Method for Genetic Analysis of the Entire PKD1 Gene · Ying-Cai Tan · 2012 · 57 citations · Cited by this paper
  22. The association between polycystic ovary syndrome and ectopic pregnancy after in vitro fertilization and embryo transfer · Jing Wang · 2013 · 56 citations · Cited by this paper
  23. Biochemical characterization of bona fide polycystin-1 in vitro and in vivo · Alessandra Boletta · 2001 · 54 citations · Cited by this paper
  24. Physiologic mechanisms underlying polycystic kidney disease · Alessandra Boletta · 2025 · 43 citations · Cited by this paper
  25. How Segmental Duplications Shape Our Genome: Recent Evolution of ABCC6 and PKD1 Mendelian Disease Genes · Orsolya Symmons · 2008 · 41 citations · Cited by this paper
  26. Oocyte vitrification technology has made egg-sharing donation easier in China · Lingbo Cai · 2011 · 38 citations · Cited by this paper
  27. Correction to: Splicing mutations in human genetic disorders: examples, detection, and confirmation · Anna Abramowicz · 2019 · 36 citations · Cited by this paper
  28. Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD · Yvonne Hort · 2023 · 23 citations · Cited by this paper
  29. PKD1 Truncating Mutations Accelerate eGFR Decline in Autosomal Dominant Polycystic Kidney Disease Patients · Hamad Ali · 2024 · 13 citations · Cited by this paper
  30. Identified eleven exon variants in PKD1 and PKD2 genes that altered RNA splicing by minigene assay · Xuyan Liu · 2023 · 9 citations · Cited by this paper
  31. Mutation Analysis of PKD1 and PKD2 Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including a Novel Complex Rearrangement · Silvia Orisio · 2023 · 7 citations · Cited by this paper
  32. Renal ciliopathies · Laura A. Devlin · 2025 · 7 citations · Cited by this paper
  33. Genotype-phenotype of autosomal dominant polycystic kidney disease in Malta · Natalie Ciantar · 2024 · 4 citations · Cited by this paper
  34. Functional Evaluation of PKD1 Intronic Variants by Minigene Assays · Seon Hoo Youn · 2025 · 1 citation · Cited by this paper

Source: OpenAlex (CC0)