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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.
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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  Data: The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease.
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  Data: <searchLink fieldCode="AU" term="%22Elhassan+EAE%22">Elhassan EAE</searchLink>; Department of Nephrology, Beaumont Hospital, Dublin, Ireland.; Department of Medicine, Royal College of Surgeons in Ireland, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Collins+KE%22">Collins KE</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Heneghan+S%22">Heneghan S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Gilbert+E%22">Gilbert E</searchLink>; School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Yang+H%22">Yang H</searchLink>; Division of Nephrology & Hypertension, Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Senum+SR%22">Senum SR</searchLink>; Division of Nephrology & Hypertension, Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Schauer+RS%22">Schauer RS</searchLink>; Division of Nephrology & Hypertension, Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Elbarougy+DE%22">Elbarougy DE</searchLink>; Division of Nephrology & Hypertension, Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Madden+SF%22">Madden SF</searchLink>; Data Science Centre, Royal College of Surgeons in Ireland, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Murray+SL%22">Murray SL</searchLink>; Department of Nephrology, Beaumont Hospital, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Sadeghi-Alavijeh+O%22">Sadeghi-Alavijeh O</searchLink>; Department of Renal Medicine, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Carmichael+J%22">Carmichael J</searchLink>; Department of Renal Medicine, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Gale+D%22">Gale D</searchLink>; Department of Renal Medicine, University College London, London, UK.; Genomics England, Queen Mary University of London, London, UK.<br /><searchLink fieldCode="AU" term="%22Osman+SM%22">Osman SM</searchLink>; Department of Nephrology, Beaumont Hospital, Dublin, Ireland.; Department of Medicine, Royal College of Surgeons in Ireland, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Kennedy+C%22">Kennedy C</searchLink>; Kingston General Hospital & Queen's University, Kingston, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Griffin+MD%22">Griffin MD</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Casserly+L%22">Casserly L</searchLink>; Department of Renal Medicine, University Hospital Limerick, Limerick, Ireland.<br /><searchLink fieldCode="AU" term="%22Moloney+B%22">Moloney B</searchLink>; Department of Nephrology, Beaumont Hospital, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22O'Hara+P%22">O'Hara P</searchLink>; Department of Nephrology, Beaumont Hospital, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Mallawaarachchi+A%22">Mallawaarachchi A</searchLink>; Rare Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Ciurli+F%22">Ciurli F</searchLink>; Nephrology, Dialysis and Kidney Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Graziano+C%22">Graziano C</searchLink>; Medical Genetics Unit, AUSL Romagna, 47522, Cesena, Italy.<br /><searchLink fieldCode="AU" term="%22Wolff+CA%22">Wolff CA</searchLink>; Department of Nephrology and Medical Intensive Care, Charité-Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Schönauer+R%22">Schönauer R</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22LaManna+G%22">LaManna G</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Durand+A%22">Durand A</searchLink>; Ecole Centrale Nantes, INSERM, Center for Research in Transplantation and Translational Immunology, UMR1064, Nantes University, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Limou+S%22">Limou S</searchLink>; Ecole Centrale Nantes, INSERM, Center for Research in Transplantation and Translational Immunology, UMR1064, Nantes University, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Halbritter+J%22">Halbritter J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Capelli+I%22">Capelli I</searchLink>; Nephrology, Dialysis and Kidney Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22McCann+E%22">McCann E</searchLink>; The Department of Clinical Genetics, Children's Health Ireland at Crumlin, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Harris+PC%22">Harris PC</searchLink>; 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