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1.
PLoS One ; 15(1): e0221914, 2020.
Article in English | MEDLINE | ID: mdl-31990917

ABSTRACT

Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited genetic disorders that share a defect in the formation, maintenance or functioning of the primary cilium complex, causing progressive cystic kidney disease and other clinical manifestations. Mutations in centrosomal protein 164 kDa (CEP164), also known as NPHP15, have been identified as a cause of NPHP-RC. Here we have utilised the MRC-Wellcome Trust Human Developmental Biology Resource (HDBR) to perform immunohistochemistry studies on human embryonic and foetal tissues to determine the expression patterns of CEP164 during development. Notably expression is widespread, yet defined, in multiple organs including the kidney, retina and cerebellum. Murine studies demonstrated an almost identical Cep164 expression pattern. Taken together, these data support a conserved role for CEP164 throughout the development of numerous organs, which, we suggest, accounts for the multi-system disease phenotype of CEP164-mediated NPHP-RC.


Subject(s)
Cilia/genetics , Ciliopathies/genetics , Kidney Diseases, Cystic/genetics , Microtubule Proteins/genetics , Animals , Cilia/pathology , Ciliopathies/pathology , Disease Models, Animal , Fetus/metabolism , Gene Expression Regulation, Developmental/genetics , Humans , Kidney/metabolism , Kidney/pathology , Kidney Diseases, Cystic/pathology , Mice , Retina/metabolism , Retina/pathology
2.
Rev Sci Instrum ; 87(11): 11E561, 2016 Nov.
Article in English | MEDLINE | ID: mdl-27910470

ABSTRACT

An optical coherence imaging system is presently being designed for impurity transport studies and other applications on ITER. The wide variation in magnetic field strength and pitch angle (assumed known) across the field of view generates additional Zeeman-polarization-weighting information that can improve the reliability of tomographic reconstructions. Because background reflected light will be somewhat depolarized analysis of only the polarized fraction may be enough to provide a level of background suppression. We present the principles behind these ideas and some simulations that demonstrate how the approach might work on ITER. The views and opinions expressed herein do not necessarily reflect those of the ITER Organization.

3.
Rev Sci Instrum ; 85(12): 123503, 2014 Dec.
Article in English | MEDLINE | ID: mdl-25554289

ABSTRACT

The operation of next-generation fusion reactors will be significantly affected by impurity transport in the scrape-off layer (SOL). Current modelling efforts are restricted by a lack of detailed data on impurity transport in the SOL. In order to address this, a carbon injector has been designed and installed on the Mega Amp Spherical Tokamak (MAST). The injector creates short lived carbon plumes originating at the MAST divertor lasting less than 50 µs. High voltage capacitor banks are used to create a discharge across concentric carbon electrodes located in a probe mounted on the Divertor Science Facility in the MAST lower divertor. This results in a very short plume duration allowing observation of the evolution of the plume and precise localisation of the plume relative to the X-point on MAST. The emission from the carbon plume was imaged using fast visible cameras filtered in order to isolate the carbon II and carbon III emission lines centered around 514 nm and 465 nm.

4.
Rev Sci Instrum ; 83(10): 10E520, 2012 Oct.
Article in English | MEDLINE | ID: mdl-23127027

ABSTRACT

The ITER equatorial port visible∕infrared wide angle viewing system concept is developed from the measurement requirements. The proposed solution situates 4 viewing systems in the equatorial ports 3, 9, 12, and 17 with 4 views each (looking at the upper target, the inner divertor, and tangentially left and right). This gives sufficient coverage. The spatial resolution of the divertor system is 2 times higher than the other views. For compensation of vacuum-vessel movements, an optical hinge concept is proposed. Compactness and low neutron streaming is achieved by orienting port plug doglegs horizontally. Calibration methods, risks, and R&D topics are outlined.

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