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Ciliopathies and the Kidney: A Review.
McConnachie, Dominique J; Stow, Jennifer L; Mallett, Andrew J.
Affiliation
  • McConnachie DJ; Institute for Molecular Bioscience (IMB) and IMB Centre for Inflammation Disease and Research, The University of Queensland, Brisbane, QLD, Australia.
  • Stow JL; Kidney Health Service, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.
  • Mallett AJ; Institute for Molecular Bioscience (IMB) and IMB Centre for Inflammation Disease and Research, The University of Queensland, Brisbane, QLD, Australia; Kidney Health Service, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia; Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia; KidGen Collaborative, Australian Genomics Health Alliance, Melbourne, VIC, Australia. Electronic address: andrew.mallett@health.qld.gov.au.
Am J Kidney Dis ; 77(3): 410-419, 2021 03.
Article in En | MEDLINE | ID: mdl-33039432
Subject(s)
Bardet-Biedl Syndrome/genetics; Cilia/metabolism; Ciliopathies/genetics; Polycystic Kidney Diseases/genetics; Abnormalities, Multiple/genetics; Abnormalities, Multiple/metabolism; Abnormalities, Multiple/physiopathology; Adaptor Proteins, Signal Transducing/genetics; Adaptor Proteins, Vesicular Transport/genetics; Bardet-Biedl Syndrome/metabolism; Bardet-Biedl Syndrome/physiopathology; Cerebellum/abnormalities; Cerebellum/metabolism; Cerebellum/physiopathology; Chaperonins/genetics; Cilia/physiology; Ciliary Motility Disorders/genetics; Ciliary Motility Disorders/metabolism; Ciliary Motility Disorders/physiopathology; Ciliopathies/metabolism; Ciliopathies/physiopathology; Cytoskeletal Proteins/genetics; Encephalocele/genetics; Encephalocele/metabolism; Encephalocele/physiopathology; Eye Abnormalities/genetics; Eye Abnormalities/metabolism; Eye Abnormalities/physiopathology; Humans; Kidney Diseases, Cystic/genetics; Kidney Diseases, Cystic/metabolism; Kidney Diseases, Cystic/physiopathology; Leber Congenital Amaurosis/genetics; Leber Congenital Amaurosis/metabolism; Leber Congenital Amaurosis/physiopathology; Membrane Proteins/genetics; Microtubule-Associated Proteins/genetics; Optic Atrophies, Hereditary/genetics; Optic Atrophies, Hereditary/metabolism; Optic Atrophies, Hereditary/physiopathology; Polycystic Kidney Diseases/metabolism; Polycystic Kidney Diseases/physiopathology; Proteins/genetics; Retina/abnormalities; Retina/metabolism; Retina/physiopathology; Retinitis Pigmentosa/genetics; Retinitis Pigmentosa/metabolism; Retinitis Pigmentosa/physiopathology; TRPP Cation Channels/genetics
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cilia / Bardet-Biedl Syndrome / Ciliopathies / Polycystic Kidney Diseases Language: En Journal: Am J Kidney Dis Year: 2021 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cilia / Bardet-Biedl Syndrome / Ciliopathies / Polycystic Kidney Diseases Language: En Journal: Am J Kidney Dis Year: 2021 Document type: Article Affiliation country: Country of publication: