PubMed Latest Articles
This section contains a feed from PubMed with recent papers on 'ciliopathy', with hyperlinked titles.
When you are on the PubMed site, you can search using any cilia and ciliopathy-related keywords or terms.
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08 July 2020
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Microtubule-associated proteins and emerging links to primary cilium structure, assembly, maintenance and disassembly.
Related Articles Microtubule-associated proteins and emerging links to primary cilium structure, assembly, maintenance and disassembly.
FEBS J. 2020 Jul 06;:
Authors: Conkar D, Firat-Karalar EN
Abstract
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The primary cilium is a microtubule-based structure that protrudes from the cell surface in diverse eukaryotic organisms. It functions as a key signaling center that decodes a variety of mechanical and chemical stimuli and plays fundamental roles -
A Chinese family of autosomal recessive polycystic kidney disease identified by whole exome sequencing.
Related Articles A Chinese family of autosomal recessive polycystic kidney disease identified by whole exome sequencing.
Medicine (Baltimore). 2020 May 29;99(22):e20413
Authors: Zhang J, Dai LM, Li FR, Zhang B, Zhao JH, Cheng JB
Abstract
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BACKGROUND: Autosomal recessive polycystic kidney disease (ARPKD) is an autosomal recessive hepatorenal fibrocystic syndrome. The majority of ARPKD -
Growth characteristics and therapeutic decision markers in von Hippel-Lindau disease patients with renal cell carcinoma.
Related Articles Growth characteristics and therapeutic decision markers in von Hippel-Lindau disease patients with renal cell carcinoma.
Orphanet J Rare Dis. 2019 10 28;14(1):235
Authors: Schuhmacher P, Kim E, Hahn F, Sekula P, Jilg CA, Leiber C, Neumann HP, Schultze-Seemann W, Walz G, Zschiedrich S
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Editorial overview: Cilia in development and disease.
Related Articles Editorial overview: Cilia in development and disease.
Curr Opin Genet Dev. 2019 06;56:iii-iv
Authors: Ingham PW, Reversade B
PMID: 31590753 [PubMed - indexed for MEDLINE]
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Autosomal dominant tubulointerstitial kidney disease.
Related Articles Autosomal dominant tubulointerstitial kidney disease.
Nat Rev Dis Primers. 2019 09 05;5(1):60
Authors: Devuyst O, Olinger E, Weber S, Eckardt KU, Kmoch S, Rampoldi L, Bleyer AJ
Abstract
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Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a recently defined entity that includes rare kidney diseases characterized by tubular damage and interstitial fibrosis -
Polycystic kidney disease: new knowledge and future promises.
Related Articles Polycystic kidney disease: new knowledge and future promises.
Curr Opin Genet Dev. 2019 06;56:69-75
Authors: Foo JN, Xia Y
Abstract
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Polycystic kidney disease (PKD) is one of the most common genetic kidney diseases, characterized by the formation of fluid-filled renal cysts, which eventually lead to end-stage renal disease. Despite several -
Systemic Succinate, Hypoxia-Inducible Factor-1 Alpha, and IL-1β Gene Expression in Autosomal Dominant Polycystic Kidney Disease with and without Hypertension.
Related Articles Systemic Succinate, Hypoxia-Inducible Factor-1 Alpha, and IL-1β Gene Expression in Autosomal Dominant Polycystic Kidney Disease with and without Hypertension.
Cardiorenal Med. 2019;9(6):370-381
Authors: Kocyigit I, Taheri S, Eroglu E, Sener EF, Zararsız G, Uzun I, Tufan E, Mehmetbeyoglu E, Korkmaz Bayramov K, Sipahioglu MH, Ozkul Y,
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Genes and mechanisms of heterotaxy: patients drive the search.
Related Articles Genes and mechanisms of heterotaxy: patients drive the search.
Curr Opin Genet Dev. 2019 06;56:34-40
Authors: Sempou E, Khokha MK
Abstract
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Heterotaxy, a disorder in which visceral organs, including the heart, are mispatterned along the left-right body axis, contributes to particularly severe forms of congenital heart disease that are difficult -
Effect of a Vasopressin V2 Receptor Antagonist on Polycystic Kidney Disease Development in a Rat Model.
Related Articles Effect of a Vasopressin V2 Receptor Antagonist on Polycystic Kidney Disease Development in a Rat Model.
Am J Nephrol. 2019;49(6):487-493
Authors: Wang X, Constans MM, Chebib FT, Torres VE, Pellegrini L
Abstract
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BACKGROUND: Vasopressin -
Pharmacological restoration of visual function in a zebrafish model of von-Hippel Lindau disease.
Related Articles Pharmacological restoration of visual function in a zebrafish model of von-Hippel Lindau disease.
Dev Biol. 2020 01 15;457(2):226-234
Authors: Ward R, Ali Z, Slater K, Reynolds AL, Jensen LD, Kennedy BN
Abstract
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Von Hippel-Lindau (VHL) syndrome is a rare, autosomal dominant disorder, characterised by hypervascularised tumour formation in