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.

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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
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article

Genotype–phenotype correlations and clinical outcomes of genetic TRPC6 podocytopathies

Michael Riordan, Ng Kar Hui, Poemlarp Mekraksakit, Andrew John Mallett et al.
2 citations
Nephrology Dialysis Transplantation
Renal Diseases and Glomerulopathies
2.86
article

Genotype–phenotype correlations and clinical outcomes of genetic TRPC6 podocytopathies

Michael Riordan, Ng Kar Hui, Poemlarp Mekraksakit, Andrew John Mallett, B Alawi, Sergio Daga, Atif Awan, Stefanie Haeberle, Marc Fila, Kendrah Kidd, Elhussein A. Elhassan, Lorenzo Loberti, Jonathan de Fallois, Anna Maria Pinto, John Andrew Sayer, Aude Servais, Filippo Pinto e Vairo, Nathalie Guarnizo, Luis Fernando Quintana, Julia Hoefele, Susan McAnallen, Katherine A. Benson, Clodagh Sweeney, Erik Biroš, Silvia Titan, Joséphine Cornet, Claire Dossier, Joaquim Calado, Hugh J. McCarthy, Alessandra Renieri, Telma Francisco, Éloïse Colliou, Francesca Becherucci, Anthony J. Bleyer, Stéphane Decramer, Peter J. Conlon, Michelle Clince, Roberta Fenoglio, Sinéad Stoneman, Marie C. Hogan, Trudie Harris, Emma McCann, Stéphanie Tellier, Maria Stack, Sofía Jorge, Franz Schäfer, Dubrasquet Astrid, KálmánNiamh ToryDolan
article en
2 citations

Abstract

Our study shows unique clinical and genetic correlations of TRPC6-AP, which may enable personalized care and promising novel therapies.

Nephrology Dialysis TransplantationVol. 41(1)
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)
Good health and well-being
Openalex Percentile: Top 10%
Renal Diseases and Glomerulopathies
2.86
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