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Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation.
Schwarz, Hannah; Popp, Bernt; Airik, Rannar; Torabi, Nasrin; Knaup, Karl X; Stoeckert, Johanna; Wiech, Thorsten; Amann, Kerstin; Reis, André; Schiffer, Mario; Wiesener, Michael S; Schueler, Markus.
Afiliação
  • Schwarz H; Department of Nephrology and Hypertension, Friedrich-Alexander University Erlangen-Nürnberg (FAU), Erlangen 91054, Germany.
  • Popp B; Institute of Human Genetics, University Medical Center Leipzig, Leipzig 04103, Germany.
  • Airik R; Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen 91054, Germany.
  • Torabi N; Department of Pediatrics, Division of Nephrology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224, USA.
  • Knaup KX; Department of Nephrology and Hypertension, Friedrich-Alexander University Erlangen-Nürnberg (FAU), Erlangen 91054, Germany.
  • Stoeckert J; Department of Nephrology and Hypertension, Friedrich-Alexander University Erlangen-Nürnberg (FAU), Erlangen 91054, Germany.
  • Wiech T; Department of Nephrology and Hypertension, Friedrich-Alexander University Erlangen-Nürnberg (FAU), Erlangen 91054, Germany.
  • Amann K; Institute of Pathology, Nephropathology Section, University Hospital Hamburg-Eppendorf, Hamburg 20246, Germany.
  • Reis A; Department of Nephropathology, Institute of Pathology, University of Erlangen-Nürnberg, Erlangen 91054, Germany.
  • Schiffer M; Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen 91054, Germany.
  • Wiesener MS; Department of Nephrology and Hypertension, Friedrich-Alexander University Erlangen-Nürnberg (FAU), Erlangen 91054, Germany.
  • Schueler M; Department of Nephrology and Hypertension, Friedrich-Alexander University Erlangen-Nürnberg (FAU), Erlangen 91054, Germany.
Hum Mol Genet ; 31(9): 1357-1369, 2022 05 04.
Article em En | MEDLINE | ID: mdl-34740236
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Renais Císticas / Insuficiência Renal Crônica / Ciliopatias / Doenças Renais Policísticas Limite: Female / Humans / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Renais Císticas / Insuficiência Renal Crônica / Ciliopatias / Doenças Renais Policísticas Limite: Female / Humans / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article