Literature DB >> 19421068

The nonmotile ciliopathies.

Jonathan L Tobin1, Philip L Beales.   

Abstract

Over the last 5 years, disorders of nonmotile cilia have come of age and their study has contributed immeasurably to our understanding of cell biology and human genetics. This review summarizes the main features of the ciliopathies, their underlying genetics, and the functions of the proteins involved. We describe some of the key findings in the field, including new animal models, the role of ciliopathy proteins in signaling pathways and development, and the unusual genetics of these diseases. We also discuss the therapeutic potential for these diseases and finally, discuss important future work that will extend our understanding of this fascinating organelle and its associated pathologies.

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Year:  2009        PMID: 19421068     DOI: 10.1097/GIM.0b013e3181a02882

Source DB:  PubMed          Journal:  Genet Med        ISSN: 1098-3600            Impact factor:   8.822


  99 in total

Review 1.  Regulation of ciliary motility: conserved protein kinases and phosphatases are targeted and anchored in the ciliary axoneme.

Authors:  Maureen Wirschell; Ryosuke Yamamoto; Lea Alford; Avanti Gokhale; Anne Gaillard; Winfield S Sale
Journal:  Arch Biochem Biophys       Date:  2011-04-14       Impact factor: 4.013

2.  In search of triallelism in Bardet-Biedl syndrome.

Authors:  Leen Abu-Safieh; Shamsa Al-Anazi; Lama Al-Abdi; Mais Hashem; Hisham Alkuraya; Mushari Alamr; Mugtaba O Sirelkhatim; Zuhair Al-Hassnan; Basim Alkuraya; Jawahir Y Mohamed; Ahmad Al-Salem; May Alrashed; Eissa Faqeih; Ameen Softah; Amal Al-Hashem; Sami Wali; Zuhair Rahbeeni; Moeen Alsayed; Arif O Khan; Lihadh Al-Gazali; Peter E M Taschner; Selwa Al-Hazzaa; Fowzan S Alkuraya
Journal:  Eur J Hum Genet       Date:  2012-02-22       Impact factor: 4.246

Review 3.  The dynamic cytoskeleton of the developing male germ cell.

Authors:  Ann O Sperry
Journal:  Biol Cell       Date:  2012-03-14       Impact factor: 4.458

4.  B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.

Authors:  Katharina Hopp; Christina M Heyer; Cynthia J Hommerding; Susan A Henke; Jamie L Sundsbak; Shail Patel; Priyanka Patel; Mark B Consugar; Peter G Czarnecki; Troy J Gliem; Vicente E Torres; Sandro Rossetti; Peter C Harris
Journal:  Hum Mol Genet       Date:  2011-04-14       Impact factor: 6.150

5.  Genetic interaction of mammalian IFT-A paralogs regulates cilia disassembly, ciliary entry of membrane protein, Hedgehog signaling, and embryogenesis.

Authors:  Wei Wang; Bailey A Allard; Tana S Pottorf; Henry H Wang; Jay L Vivian; Pamela V Tran
Journal:  FASEB J       Date:  2020-03-13       Impact factor: 5.191

6.  Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.

Authors:  Mingchu Xu; Takeyuki Yamada; Zixi Sun; Aiden Eblimit; Irma Lopez; Feng Wang; Hiroshi Manya; Shan Xu; Li Zhao; Yumei Li; Adva Kimchi; Dror Sharon; Ruifang Sui; Tamao Endo; Robert K Koenekoop; Rui Chen
Journal:  Hum Mol Genet       Date:  2016-01-28       Impact factor: 6.150

Review 7.  Zebrafish kidney development: basic science to translational research.

Authors:  Lisa M Swanhart; Chiara Cianciolo Cosentino; Cuong Q Diep; Alan J Davidson; Mark de Caestecker; Neil A Hukriede
Journal:  Birth Defects Res C Embryo Today       Date:  2011-06

Review 8.  Spectrum of clinical diseases caused by disorders of primary cilia.

Authors:  Stephanie M Ware; Meral Gunay- Aygun; Friedhelm Hildebrandt
Journal:  Proc Am Thorac Soc       Date:  2011-09

9.  POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.

Authors:  Ranad Shaheen; Eissa Faqeih; Hanan E Shamseldin; Ramil R Noche; Asma Sunker; Muneera J Alshammari; Tarfa Al-Sheddi; Nouran Adly; Mohammed S Al-Dosari; Sean G Megason; Muneera Al-Husain; Futwan Al-Mohanna; Fowzan S Alkuraya
Journal:  Am J Hum Genet       Date:  2012-07-26       Impact factor: 11.025

10.  Identification of candidate downstream targets of TGFβ signaling during palate development by genome-wide transcript profiling.

Authors:  Richard C Pelikan; Junichi Iwata; Akiko Suzuki; Yang Chai; Joseph G Hacia
Journal:  J Cell Biochem       Date:  2013-04       Impact factor: 4.429

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