Urine‐derived podocytes‐lineage cells: A promising tool for precision medicine in Alport Syndrome

Alport Syndrome (ATS) is a rare genetic disorder caused by collagen IV genes mutations, leading to glomerular basement membrane damage up to end‐stage renal disease. Podocytes, the main component of the glomerular structure, are the only cells able to produce all the three collagens IV alpha chains...

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Veröffentlicht in:	Human mutation 2018-02, Vol.39 (2), p.302-314
Hauptverfasser:	Daga, Sergio, Baldassarri, Margherita, Lo Rizzo, Caterina, Fallerini, Chiara, Imperatore, Valentina, Longo, Ilaria, Frullanti, Elisa, Landucci, Elisa, Massella, Laura, Pecoraro, Carmine, Garosi, Guido, Ariani, Francesca, Mencarelli, Maria Antonietta, Mari, Francesca, Renieri, Alessandra, Pinto, Anna Maria
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged Alport syndrome Alport syndrome (ATS) Autoantigens - genetics cellular model Child Collagen (type IV) Collagen Type IV - genetics End-stage renal disease Female Genetic disorders Humans Kidney diseases Male Middle Aged Mutation Mutation - genetics Nephritis, Hereditary - therapy Pathology, Molecular - methods Pedigree Podocytes - cytology podocytes‐lineage cells Polymerase chain reaction Precision medicine Precision Medicine - methods Ribonucleic acid RNA splicing mutations transcript analysis Urine Young Adult
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