Literature DB >> 17955020

When cilia go bad: cilia defects and ciliopathies.

Manfred Fliegauf1, Thomas Benzing, Heymut Omran.   

Abstract

Defects in the function of cellular organelles such as peroxisomes, lysosomes and mitochondria are well-known causes of human diseases. Recently, another organelle has also been added to this list. Cilia--tiny hair-like organelles attached to the cell surface--are located on almost all polarized cell types of the human body and have been adapted as versatile tools for various cellular functions, explaining why cilia-related disorders can affect many organ systems. Several molecular mechanisms involved in cilia-related disorders have been identified that affect the structure and function of distinct cilia types.

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Mesh:

Year:  2007        PMID: 17955020     DOI: 10.1038/nrm2278

Source DB:  PubMed          Journal:  Nat Rev Mol Cell Biol        ISSN: 1471-0072            Impact factor:   94.444


  579 in total

Review 1.  Ciliary diffusion barrier: the gatekeeper for the primary cilium compartment.

Authors:  Qicong Hu; W James Nelson
Journal:  Cytoskeleton (Hoboken)       Date:  2011-06-10

2.  Dysregulation of Kruppel-like factor 4 during brain development leads to hydrocephalus in mice.

Authors:  Song Qin; Menglu Liu; Wenze Niu; Chun-Li Zhang
Journal:  Proc Natl Acad Sci U S A       Date:  2011-12-12       Impact factor: 11.205

3.  Wnt signalling escapes to cilia.

Authors:  Rieko Ajima; Hiroshi Hamada
Journal:  Nat Cell Biol       Date:  2011-06       Impact factor: 28.824

4.  IFT56 regulates vertebrate developmental patterning by maintaining IFTB complex integrity and ciliary microtubule architecture.

Authors:  Daisy Xin; Kasey J Christopher; Lewie Zeng; Yong Kong; Scott D Weatherbee
Journal:  Development       Date:  2017-03-06       Impact factor: 6.868

5.  Primary cilia regulate mTORC1 activity and cell size through Lkb1.

Authors:  Christopher Boehlke; Fruzsina Kotsis; Vishal Patel; Simone Braeg; Henriette Voelker; Saskia Bredt; Theresa Beyer; Heike Janusch; Christoph Hamann; Markus Gödel; Klaus Müller; Martin Herbst; Miriam Hornung; Mara Doerken; Michael Köttgen; Roland Nitschke; Peter Igarashi; Gerd Walz; E Wolfgang Kuehn
Journal:  Nat Cell Biol       Date:  2010-10-24       Impact factor: 28.824

Review 6.  Cilia in vertebrate development and disease.

Authors:  Edwin C Oh; Nicholas Katsanis
Journal:  Development       Date:  2012-02       Impact factor: 6.868

7.  Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.

Authors:  Heike Olbrich; Carolin Cremers; Niki T Loges; Claudius Werner; Kim G Nielsen; June K Marthin; Maria Philipsen; Julia Wallmeier; Petra Pennekamp; Tabea Menchen; Christine Edelbusch; Gerard W Dougherty; Oliver Schwartz; Holger Thiele; Janine Altmüller; Frank Rommelmann; Heymut Omran
Journal:  Am J Hum Genet       Date:  2015-09-17       Impact factor: 11.025

8.  NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings.

Authors:  K T Leeman; L Dobson; M Towne; D Dukhovny; M Joshi; J Stoler; P B Agrawal
Journal:  J Perinatol       Date:  2014-05       Impact factor: 2.521

9.  Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.

Authors:  Inga M Höben; Rim Hjeij; Heike Olbrich; Gerard W Dougherty; Tabea Nöthe-Menchen; Isabella Aprea; Diana Frank; Petra Pennekamp; Bernd Dworniczak; Julia Wallmeier; Johanna Raidt; Kim G Nielsen; Maria C Philipsen; Francesca Santamaria; Laura Venditto; Israel Amirav; Huda Mussaffi; Freerk Prenzel; Kaman Wu; Zeineb Bakey; Miriam Schmidts; Niki T Loges; Heymut Omran
Journal:  Am J Hum Genet       Date:  2018-05-03       Impact factor: 11.025

10.  Gain-of-function mutations in the gene encoding the tyrosine phosphatase SHP2 induce hydrocephalus in a catalytically dependent manner.

Authors:  Hong Zheng; Wen-Mei Yu; Ronald R Waclaw; Maria I Kontaridis; Benjamin G Neel; Cheng-Kui Qu
Journal:  Sci Signal       Date:  2018-03-20       Impact factor: 8.192

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