Literature DB >> 22177992

Ciliopathies: the central role of cilia in a spectrum of pediatric disorders.

Thomas W Ferkol1, Margaret W Leigh.   

Abstract

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Year:  2011        PMID： 22177992      PMCID： PMC3282141          DOI： 10.1016/j.jpeds.2011.11.024

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  46 in total

Review 1.  Photoreceptor sensory cilia and inherited retinal degeneration.

Authors:  Qin Liu; Qi Zhang; Eric A Pierce
Journal:  Adv Exp Med Biol       Date:  2010       Impact factor: 2.622

Review 2.  Intraflagellar transport (IFT) role in ciliary assembly, resorption and signalling.

Authors:  Lotte B Pedersen; Joel L Rosenbaum
Journal:  Curr Top Dev Biol       Date:  2008       Impact factor: 4.897

Review 3.  Liver and kidney disease in ciliopathies.

Authors:  Meral Gunay-Aygun
Journal:  Am J Med Genet C Semin Med Genet       Date:  2009-11-15       Impact factor: 3.908

Review 4.  Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?

Authors:  Friedhelm Hildebrandt; Edgar Otto
Journal:  Nat Rev Genet       Date:  2005-12       Impact factor: 53.242

Review 5.  Sensory reception is an attribute of both primary cilia and motile cilia.

Authors:  Robert A Bloodgood
Journal:  J Cell Sci       Date:  2010-02-15       Impact factor: 5.285

6.  Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.

Authors:  Maimoona A Zariwala; Margaret W Leigh; Franck Ceppa; Marcus P Kennedy; Peadar G Noone; Johnny L Carson; Milan J Hazucha; Adriana Lori; Judit Horvath; Heike Olbrich; Niki T Loges; Anne-Marie Bridoux; Gaëlle Pennarun; Bénédicte Duriez; Estelle Escudier; Hannah M Mitchison; Rahul Chodhari; Eddie M K Chung; Lucy C Morgan; Robbert U de Iongh; Jonathan Rutland; Ugo Pradal; Heymut Omran; Serge Amselem; Michael R Knowles
Journal:  Am J Respir Crit Care Med       Date:  2006-07-20       Impact factor: 21.405

7.  RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa.

Authors:  A Moore; E Escudier; G Roger; A Tamalet; B Pelosse; S Marlin; A Clément; M Geremek; B Delaisi; A-M Bridoux; A Coste; M Witt; B Duriez; S Amselem
Journal:  J Med Genet       Date:  2005-07-31       Impact factor: 6.318

8.  Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.

Authors:  Georg C Schwabe; Katrin Hoffmann; Niki Tomas Loges; Daniel Birker; Colette Rossier; Margherita M de Santi; Heike Olbrich; Manfred Fliegauf; Mike Failly; Uta Liebers; Mirella Collura; Gerhard Gaedicke; Stefan Mundlos; Ulrich Wahn; Jean-Louis Blouin; Bodo Niggemann; Heymut Omran; Stylianos E Antonarakis; Lucia Bartoloni
Journal:  Hum Mutat       Date:  2008-02       Impact factor: 4.878

Review 9.  Bardet-Biedl syndrome: beyond the cilium.

Authors:  Jonathan L Tobin; Philip L Beales
Journal:  Pediatr Nephrol       Date:  2007-03-15       Impact factor: 3.714

10.  Motile cilia of human airway epithelia are chemosensory.

Authors:  Alok S Shah; Yehuda Ben-Shahar; Thomas O Moninger; Joel N Kline; Michael J Welsh
Journal:  Science       Date:  2009-07-23       Impact factor: 47.728
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  33 in total

Review 1.  Genetics and biology of primary ciliary dyskinesia.

Authors:  Amjad Horani; Thomas W Ferkol; Susan K Dutcher; Steven L Brody
Journal:  Paediatr Respir Rev       Date:  2015-09-11       Impact factor: 2.726

Review 2.  Expanding horizons: ciliary proteins reach beyond cilia.

Authors:  Shiaulou Yuan; Zhaoxia Sun
Journal:  Annu Rev Genet       Date:  2013-09-06       Impact factor: 16.830

3.  Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia.

Authors:  Amjad Horani; Todd E Druley; Maimoona A Zariwala; Anand C Patel; Benjamin T Levinson; Laura G Van Arendonk; Katherine C Thornton; Joe C Giacalone; Alison J Albee; Kate S Wilson; Emily H Turner; Deborah A Nickerson; Jay Shendure; Philip V Bayly; Margaret W Leigh; Michael R Knowles; Steven L Brody; Susan K Dutcher; Thomas W Ferkol
Journal:  Am J Hum Genet       Date:  2012-10-05       Impact factor: 11.025

4.  Intraflagellar transport 88 (IFT88) is crucial for craniofacial development in mice and is a candidate gene for human cleft lip and palate.

Authors:  Hua Tian; Jifan Feng; Jingyuan Li; Thach-Vu Ho; Yuan Yuan; Yang Liu; Frederick Brindopke; Jane C Figueiredo; William Magee; Pedro A Sanchez-Lara; Yang Chai
Journal:  Hum Mol Genet       Date:  2017-03-01       Impact factor: 6.150

5.  Primary Ciliary Dyskinesia (PCD): A genetic disorder of motile cilia.

Authors:  Margaret W Leigh; Amjad Horani; BreAnna Kinghorn; Michael G O'Connor; Maimoona A Zariwala; Michael R Knowles
Journal:  Transl Sci Rare Dis       Date:  2019-07-04

6.  Identifying domains of EFHC1 involved in ciliary localization, ciliogenesis, and the regulation of Wnt signaling.

Authors:  Ying Zhao; Jianli Shi; Mark Winey; Michael W Klymkowsky
Journal:  Dev Biol       Date:  2016-01-16       Impact factor: 3.582

7.  Disruption of the mouse Jhy gene causes abnormal ciliary microtubule patterning and juvenile hydrocephalus.

Authors:  Oliver K Appelbe; Bryan Bollman; Ali Attarwala; Lindy A Triebes; Hilmarie Muniz-Talavera; Daniel J Curry; Jennifer V Schmidt
Journal:  Dev Biol       Date:  2013-07-29       Impact factor: 3.582

Review 8.  Primary ciliary dyskinesia and associated sensory ciliopathies.

Authors:  Amjad Horani; Thomas W Ferkol
Journal:  Expert Rev Respir Med       Date:  2016-03-28       Impact factor: 3.772

Review 9.  Primary Ciliary Dyskinesia: An Update on New Diagnostic Modalities and Review of the Literature.

Authors:  Rizwana Popatia; Kenan Haver; Alicia Casey
Journal:  Pediatr Allergy Immunol Pulmonol       Date:  2014-06-01       Impact factor: 1.349

10.  Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities.

Authors:  Thomas W Ferkol; Erik G Puffenberger; Hauw Lie; Cynthia Helms; Kevin A Strauss; Anne Bowcock; John L Carson; Milan Hazucha; D Holmes Morton; Anand C Patel; Margaret W Leigh; Michael R Knowles; Maimoona A Zariwala
Journal:  J Pediatr       Date:  2013-03-07       Impact factor: 4.406
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