Literature DB >> 16341073

Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?

Friedhelm Hildebrandt1, Edgar Otto.   

Abstract

Cystic kidney diseases are among the most frequent lethal genetic diseases. Positional cloning of novel cystic kidney disease genes revealed that their products (cystoproteins) are expressed in sensory organelles called primary cilia, in basal bodies or in centrosomes. Primary cilia link mechanosensory, visual, osmotic, gustatory and other stimuli to mechanisms of cell-cycle control and epithelial cell polarity. The ciliary expression of cystoproteins explains why many other organs might be also affected in patients with cystic kidney disease. Protein-protein interactions among cystoproteins, and their strong evolutionary conservation, provide a basis for a multidisciplinary approach to unravelling the novel signalling mechanisms that are involved in this disease group.

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Year:  2005        PMID: 16341073     DOI: 10.1038/nrg1727

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN: 1471-0056            Impact factor:   53.242


  123 in total

1.  Hypertension in Autosomal Dominant Polycystic Kidney Disease: A Clinical and Basic Science Perspective.

Authors:  Shobha Ratnam; Surya M Nauli
Journal:  Int J Nephrol Urol       Date:  2010

2.  Centrin depletion causes cyst formation and other ciliopathy-related phenotypes in zebrafish.

Authors:  Benedicte Delaval; Laurence Covassin; Nathan D Lawson; Stephen Doxsey
Journal:  Cell Cycle       Date:  2011-11-15       Impact factor: 4.534

Review 3.  Axonemal positioning and orientation in three-dimensional space for primary cilia: what is known, what is assumed, and what needs clarification.

Authors:  Cornelia E Farnum; Norman J Wilsman
Journal:  Dev Dyn       Date:  2011-11       Impact factor: 3.780

Review 4.  Mechanisms of nephronophthisis and related ciliopathies.

Authors:  Toby W Hurd; Friedhelm Hildebrandt
Journal:  Nephron Exp Nephrol       Date:  2010-11-11

5.  IFT46 plays an essential role in cilia development.

Authors:  Mi-Sun Lee; Kyu-Seok Hwang; Hyun-Woo Oh; Kim Ji-Ae; Hyun-Taek Kim; Hyun-Soo Cho; Jeong-Ju Lee; Je Yeong Ko; Jung-Hwa Choi; Yun-Mi Jeong; Kwan-Hee You; Joon Kim; Doo-Sang Park; Ki-Hoan Nam; Shinichi Aizawa; Hiroshi Kiyonari; Go Shioi; Jong-Hoon Park; Weibin Zhou; Nam-Soon Kim; Cheol-Hee Kim
Journal:  Dev Biol       Date:  2015-02-24       Impact factor: 3.582

6.  Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression.

Authors:  Frank Zaucke; Joana M Boehnlein; Sarah Steffens; Roman S Polishchuk; Luca Rampoldi; Andreas Fischer; Andreas Pasch; Christoph W A Boehm; Anne Baasner; Massimo Attanasio; Bernd Hoppe; Helmut Hopfer; Bodo B Beck; John A Sayer; Friedhelm Hildebrandt; Matthias T F Wolf
Journal:  Hum Mol Genet       Date:  2010-02-18       Impact factor: 6.150

7.  Nephrocystin and ciliary defects not only in the kidney?

Authors:  Christian von Schnakenburg; Manfred Fliegauf; Heymut Omran
Journal:  Pediatr Nephrol       Date:  2007-02-20       Impact factor: 3.714

8.  Nephronophthisis.

Authors:  Roslyn J Simms; Lorraine Eley; John A Sayer
Journal:  Eur J Hum Genet       Date:  2008-12-10       Impact factor: 4.246

Review 9.  Planar cell polarity signaling: from fly development to human disease.

Authors:  Matias Simons; Marek Mlodzik
Journal:  Annu Rev Genet       Date:  2008       Impact factor: 16.830

10.  Centrosomal abnormalities characterize human and rodent cystic cholangiocytes and are associated with Cdc25A overexpression.

Authors:  Tatyana V Masyuk; Seung-Ok Lee; Brynn N Radtke; Angela J Stroope; Bing Huang; Jesús M Banales; Anatoliy I Masyuk; Patrick L Splinter; Sergio A Gradilone; Gabriella B Gajdos; Nicholas F LaRusso
Journal:  Am J Pathol       Date:  2013-11-07       Impact factor: 4.307

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