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1 - 10 of 161 results found for PAX6.

  1. People  | Cells For Sight - UCL – University College London

    Aniridia is a progressive eye disorder caused by a haploinsufficiency of the PAX6 transcription factor, for which there is no effective treatment. ... By culturing human corneal aniridic cells and making in vitro models of the aniridic cornea, the final

    https://www.ucl.ac.uk/cells-for-sight/people

  2. daniels | UCL Institute of Ophthalmology - UCL – University College...

    of Pax6 in ocular surface failure in aniridia and investigating the mechanisms of conjunctival scarring in order to develop therapeutic anti-scarring strategies   . Education. University of Leeds. First Degree, Bachelor of

    https://www.ucl.ac.uk/ioo/research/academics/daniels

  3. Pax6: more than meets the eye.

    The paired-box motif, originally defined in Drosophila segmentation genes is conserved in the Pax family of vertebrate developmental genes. Mutations that reduce Pax6 dosage cause dominantly inherited eye malformations in man and mouse. Remarkably,

    http://iris.ucl.ac.uk/iris/publication/1000291/2

  4. A new PAX6 mutation in familial aniridia.

    Aniridia (lack of iris) is caused by loss of function mutations in one copy of the PAX6 gene. Here we present a new PAX6 splice mutation in a family with autosomal dominant aniridia. The mutation is a single nucleotide change which, although

    http://iris.ucl.ac.uk/iris/publication/1000292/2

  5. PAX6 mutations in aniridia.

    Aniridia is a congenital malformation of the eye, chiefly characterised by iris hypoplasia, which can cause blindness. The PAX6 gene was isolated as a candidate aniridia gene by positional cloning from the smallest region of overlap of

    http://iris.ucl.ac.uk/iris/publication/1000309/2

  6. Fishing for evolutionarily conserved Pax6 eye enhancers in mice

    http://iris.ucl.ac.uk/iris/publication/1564655/3

  7. Controlled overexpression of Pax6 in vivo negatively autoregulates the Pax6 locus,...

    Levels of expression of the transcription factor Pax6 vary throughout corticogenesis in a rostro-lateral(high) to caudo-medial(low) gradient across the cortical proliferative zone. Previous loss-of-function studies have indicated that Pax6 is

    http://iris.ucl.ac.uk/iris/publication/1000242/2

  8. | UCL Doctoral School

    Miss Rintra Wongvisavavit, Institute of Ophthalmology. Human corneal stromal cells. Primary human corneal stromal cells were stained with PAX6 which is a master control gene for development of the eyes. ... PAX6 show in red color and phalloidin show in

    https://www.grad.ucl.ac.uk/comp/2019-2020/research-images-competition/gallery/87.html

  9. Distribution of Pax6 protein during eye development suggests discrete roles in...

    http://iris.ucl.ac.uk/iris/publication/1127/1

  10. Paired-less Pax6 has a role in eye development

    http://iris.ucl.ac.uk/iris/publication/191379/3

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