Genotype–phenotype correlations and clinical outcomes of genetic <i>TRPC6</i> podocytopathies
Our study shows unique clinical and genetic correlations of TRPC6-AP, which may enable personalized care and promising novel therapies.
Authors
- Michael Riordan (ORCID: https://orcid.org/0000-0002-8061-818X)
- Ng Kar Hui
- Poemlarp Mekraksakit
- Andrew John Mallett (ORCID: https://orcid.org/0000-0002-8752-2551)
- B Alawi
- Sergio Daga (ORCID: https://orcid.org/0000-0002-6419-9456)
- Atif Awan (ORCID: https://orcid.org/0000-0002-1615-2602)
- Stefanie Haeberle (ORCID: https://orcid.org/0000-0001-8801-7074)
- Marc Fila (ORCID: https://orcid.org/0000-0001-8857-7100)
- Kendrah Kidd (ORCID: https://orcid.org/0000-0003-3771-0949)
- Elhussein A. Elhassan (ORCID: https://orcid.org/0000-0002-8689-8602)
- Lorenzo Loberti (ORCID: https://orcid.org/0000-0001-5020-8393)
- Jonathan de Fallois (ORCID: https://orcid.org/0000-0002-6448-1881)
- Anna Maria Pinto (ORCID: https://orcid.org/0000-0001-6259-6901)
- John Andrew Sayer (ORCID: https://orcid.org/0000-0003-1881-3782)
- Aude Servais (ORCID: https://orcid.org/0000-0002-8165-8212)
- Filippo Pinto e Vairo (ORCID: https://orcid.org/0000-0001-6030-1903)
- Nathalie Guarnizo (ORCID: https://orcid.org/0000-0003-0766-7994)
- Luis Fernando Quintana (ORCID: https://orcid.org/0000-0001-7582-8476)
- Julia Hoefele (ORCID: https://orcid.org/0000-0002-7917-7129)
- Susan McAnallen
- Katherine A. Benson (ORCID: https://orcid.org/0000-0003-3529-315X)
- Clodagh Sweeney
- Erik Biroš (ORCID: https://orcid.org/0000-0003-1154-5367)
- Silvia Titan (ORCID: https://orcid.org/0000-0002-6206-1111)
- Joséphine Cornet
- Claire Dossier (ORCID: https://orcid.org/0000-0001-7918-2879)
- Joaquim Calado (ORCID: https://orcid.org/0000-0002-1194-3392)
- Hugh J. McCarthy (ORCID: https://orcid.org/0000-0001-7357-4310)
- Alessandra Renieri (ORCID: https://orcid.org/0000-0002-0846-9220)
- Telma Francisco (ORCID: https://orcid.org/0000-0002-8232-6818)
- Éloïse Colliou
- Francesca Becherucci (ORCID: https://orcid.org/0000-0002-1011-7291)
- Anthony J. Bleyer (ORCID: https://orcid.org/0000-0002-2804-5273)
- Stéphane Decramer (ORCID: https://orcid.org/0000-0001-6984-762X)
- Peter J. Conlon (ORCID: https://orcid.org/0000-0001-6772-9531)
- Michelle Clince
- Roberta Fenoglio (ORCID: https://orcid.org/0000-0001-8019-5749)
- Sinéad Stoneman
- Marie C. Hogan (ORCID: https://orcid.org/0000-0003-3031-8522)
- Trudie Harris (ORCID: https://orcid.org/0009-0009-4760-8957)
- Emma McCann
- Stéphanie Tellier
- Maria Stack
- Sofía Jorge
- Franz Schäfer
- Dubrasquet Astrid
- KálmánNiamh ToryDolan
Institutions
- University College Dublin (IE)
- Semmelweis University (HU)
- University of Siena (IT)
- Hôpital Necker-Enfants Malades (FR)
- Cliniques Universitaires Saint-Luc (BE)
- Mayo Clinic (US)
- University of British Columbia (CA)
- Royal College of Surgeons in Ireland (IE)
- Université de Bordeaux (FR)
- The University of Queensland (AU)
- National University of Singapore (SG)
- Université de Montpellier (FR)
- Heidelberg University (DE)
- Townsville Hospital (AU)
- Newcastle upon Tyne Hospitals NHS Foundation Trust (GB)
- Beaumont Hospital (IE)
- University Hospital Heidelberg (DE)
- Children's Hospital at Westmead (AU)
- TUM Klinikum (DE)
- Children's Health Ireland at Crumlin (IE)
- Temple Street Children's University Hospital (IE)
- Centre Hospitalier Universitaire de Toulouse (FR)
- Meyer Children's Hospital (IL)
- Bordeaux Population Health (FR)
- Faculdade de Ciências Médicas de Minas Gerais (BR)
- Nova Medical (United States) (US)
- Hospital Clínic de Barcelona (ES)
- Hospital de Dona Estefânia (PT)
- Siena Biotech (Italy) (IT)
- Institute of Human Genetics (PL)
- Ospedale San Giovanni Bosco (IT)
- Sydney Children's Hospital (AU)
- Hôpital Robert-Debré (FR)
- Azienda Ospedaliera Universitaria Senese (IT)
- ERN GUARD-Heart (NL)
- Hôpital Arnaud de Villeneuve (FR)
- Hospital de Santa Maria (PT)
- St. James's Hospital (IE)
- Consorci Institut D'Investigacions Biomediques August Pi I Sunyer (ES)
- University of Florence (IT)
- Wake Forest University (US)
- University of Turin (IT)
- Technical University of Munich (DE)
- Université de Limoges (FR)
- Universitat de Barcelona (ES)
- Ludwig-Maximilians-Universität München (DE)
- Newcastle University (GB)
- Heidelberg University (US)
- James Cook University (AU)
- Leipzig University (DE)
Publication Details
- Journal
- Nephrology Dialysis Transplantation
- Published
- 2025-05-15
- DOI
- https://doi.org/10.1093/ndt/gfaf086
- Citations
- 2
- Primary Topic
- Renal Diseases and Glomerulopathies
- Type
- article
- Field-Weighted Citation Impact
- 2.86