The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease.
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| Title: | The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease. |
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| Authors: | Elhassan EAE; Department of Nephrology, Beaumont Hospital, Dublin, Ireland.; Department of Medicine, Royal College of Surgeons in Ireland, Dublin, Ireland., Collins KE; School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland.; The Science Foundation Ireland FutureNeuro Centre of Excellence, Dublin, Ireland.; SFI Research Ireland Centre for Research Training in Genomics Data Science, University of Galway, Galway, Ireland., Heneghan S; School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland.; The Science Foundation Ireland FutureNeuro Centre of Excellence, Dublin, Ireland.; SFI Research Ireland Centre for Research Training in Genomics Data Science, University of Galway, Galway, Ireland., Gilbert E; School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland., Yang H; Division of Nephrology & Hypertension, Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA., Senum SR; Division of Nephrology & Hypertension, Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA., Schauer RS; Division of Nephrology & Hypertension, Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA., Elbarougy DE; Division of Nephrology & Hypertension, Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA., Madden SF; Data Science Centre, Royal College of Surgeons in Ireland, Dublin, Ireland., Murray SL; Department of Nephrology, Beaumont Hospital, Dublin, Ireland., Sadeghi-Alavijeh O; Department of Renal Medicine, University College London, London, UK., Carmichael J; Department of Renal Medicine, University College London, London, UK., Gale D; Department of Renal Medicine, University College London, London, UK.; Genomics England, Queen Mary University of London, London, UK., Osman SM; Department of Nephrology, Beaumont Hospital, Dublin, Ireland.; Department of Medicine, Royal College of Surgeons in Ireland, Dublin, Ireland., Kennedy C; Kingston General Hospital & Queen's University, Kingston, ON, Canada., Griffin MD; Regenerative Medicine Institute (REMEDI) at CÚRAM Centre for Research in Medical Devices, School of Medicine, University of Galway, Galway, Ireland.; Nephrology Department, Galway University Hospitals, Saolta University Healthcare Group, Galway, Ireland., Casserly L; Department of Renal Medicine, University Hospital Limerick, Limerick, Ireland., Moloney B; Department of Nephrology, Beaumont Hospital, Dublin, Ireland., O'Hara P; Department of Nephrology, Beaumont Hospital, Dublin, Ireland., Mallawaarachchi A; Rare Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, NSW, Australia., Ciurli F; Nephrology, Dialysis and Kidney Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138, Bologna, Italy., Graziano C; Medical Genetics Unit, AUSL Romagna, 47522, Cesena, Italy., Wolff CA; Department of Nephrology and Medical Intensive Care, Charité-Universitätsmedizin Berlin, Berlin, Germany., Schönauer R; Department of Nephrology and Medical Intensive Care, Charité-Universitätsmedizin Berlin, Berlin, Germany.; Division of Nephrology, Department of Endocrinology, Nephrology, and Rheumatology, University of Leipzig Medical Center, Leipzig, Germany., LaManna G; Nephrology, Dialysis and Kidney Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138, Bologna, Italy.; Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, 40138, Bologna, Italy., Durand A; Ecole Centrale Nantes, INSERM, Center for Research in Transplantation and Translational Immunology, UMR1064, Nantes University, Nantes, France., Limou S; Ecole Centrale Nantes, INSERM, Center for Research in Transplantation and Translational Immunology, UMR1064, Nantes University, Nantes, France., Halbritter J; Department of Nephrology and Medical Intensive Care, Charité-Universitätsmedizin Berlin, Berlin, Germany.; Division of Nephrology, Department of Endocrinology, Nephrology, and Rheumatology, University of Leipzig Medical Center, Leipzig, Germany., Capelli I; Nephrology, Dialysis and Kidney Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138, Bologna, Italy., McCann E; The Department of Clinical Genetics, Children's Health Ireland at Crumlin, Dublin, Ireland., Harris PC; Division of Nephrology & Hypertension, Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA., Cavalleri GL; Department of Medicine, Royal College of Surgeons in Ireland, Dublin, Ireland., Benson KA; School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland., Conlon PJ; Department of Nephrology, Beaumont Hospital, Dublin, Ireland. peterconlon@beaumont.ie.; Department of Medicine, Royal College of Surgeons in Ireland, Dublin, Ireland. peterconlon@beaumont.ie. |
| Corporate Authors: | Genomics England Consortium |
| Source: | Journal of nephrology [J Nephrol] 2025 Jun; Vol. 38 (5), pp. 1457-1467. Date of Electronic Publication: 2025 Jan 30. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer Country of Publication: Italy NLM ID: 9012268 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1724-6059 (Electronic) Linking ISSN: 11218428 NLM ISO Abbreviation: J Nephrol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1724-6059 |
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| DOI: | 10.1007/s40620-025-02211-x |
