Publications by authors named "Louise A Stephen"

11Publications

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.

Am J Hum Genet 2018 10 27;103(4):612-620. Epub 2018 Sep 27.

Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK; Renal Services, Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE7 7DN, UK. Electronic address:

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October 2018

The Ciliary Machinery Is Repurposed for T Cell Immune Synapse Trafficking of LCK.

Dev Cell 2018 10 13;47(1):122-132.e4. Epub 2018 Sep 13.

CR-UK Beatson Institute, Garscube Estate, Switchback Road, Glasgow G61 1BD, UK; Institute of Cancer Sciences, University of Glasgow, Glasgow G12 8QQ, UK. Electronic address:

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October 2018

Non-muscle myosin IIB (Myh10) is required for epicardial function and coronary vessel formation during mammalian development.

PLoS Genet 2017 Oct 30;13(10):e1007068. Epub 2017 Oct 30.

Division of Evolution and Genome Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, Manchester Academic Health Science Centre, University of Manchester, Manchester, United Kingdom.

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October 2017

Shuttling and sorting lipid-modified cargo into the cilia.

Biochem Soc Trans 2016 10;44(5):1273-1280

CR-UK Beatson Institute, Garscube Estate Switchback Road, Glasgow G61 1BD, U.K.

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October 2016

Loss of cilia causes embryonic lung hypoplasia, liver fibrosis, and cholestasis in the talpid3 ciliopathy mutant.

Organogenesis 2014 Apr-Jun;10(2):177-85. Epub 2014 Apr 17.

Division of Developmental Biology; The Roslin Institute and R(D)SVS; University of Edinburgh; Midlothian, UK.

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February 2016

The chicken left right organizer has nonmotile cilia which are lost in a stage-dependent manner in the talpid(3) ciliopathy.

Genesis 2014 Jun 15;52(6):600-13. Epub 2014 Apr 15.

Division of Developmental Biology, The Roslin Institute and R(D)SVS, University of Edinburgh, Easter Bush, Midlothian, United Kingdom.

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June 2014

Failure of centrosome migration causes a loss of motile cilia in talpid(3) mutants.

Dev Dyn 2013 Aug 11;242(8):923-31. Epub 2013 Jun 11.

Division of Developmental Biology, The Roslin Institute and R(D)SVS, University of Edinburgh, Easter Bush, Midlothian, UK.

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August 2013

Structural and functional investigations of Matrilin-1 A-domains reveal insights into their role in cartilage ECM assembly.

J Biol Chem 2010 Oct 21;285(44):34048-61. Epub 2010 Aug 21.

Faculty of Life Sciences, Wellcome Trust Centre for Cell-Matrix Research, University of Manchester, Manchester M13 9PT, United Kingdom.

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October 2010