• English
    • íslenska
  • English 
    • English
    • íslenska
  • Login
View Item 
  •   Home
  • Journal Articles, Peer Reviewed (Ritrýndar vísindagreinar)
  • English Journal Articles (Peer Reviewed)
  • View Item
  •   Home
  • Journal Articles, Peer Reviewed (Ritrýndar vísindagreinar)
  • English Journal Articles (Peer Reviewed)
  • View Item
JavaScript is disabled for your browser. Some features of this site may not work without it.

Browse

All of HirslaCommunitiesAuthorsTitleSubjectsSubject (MeSH)Issue DateJournalThis CollectionAuthorsTitleSubjectsSubject (MeSH)Issue DateJournal

My Account

LoginRegister

Local Links

FAQ - (Icelandic)FAQ - (English)Hirsla LogosAbout LandspitaliLSH Home PageLibrary HomeIcelandic Journals

Statistics

Display statistics

The microphthalmia-associated transcription factor (Mitf) gene and its role in regulating eye function.

  • CSV
  • RefMan
  • EndNote
  • BibTex
  • RefWorks
Thumbnail
Name:
The microphthalmia-associated ...
Size:
5.575Mb
Format:
PDF
Download
Average rating
 
   votes
Cast your vote
You can rate an item by clicking the amount of stars they wish to award to this item. When enough users have cast their vote on this item, the average rating will also be shown.
Star rating
 
Your vote was cast
Thank you for your feedback
Authors
García-Llorca, Andrea
Aspelund, Snaefridur Gudmundsdottir
Ogmundsdottir, Margret Helga
Steingrimsson, Eiríkur
Eysteinsson, Thor
Issue Date
2019-10-28

Metadata
Show full item record
Citation
García-Llorca, A., Aspelund, S.G., Ogmundsdottir, M.H. et al. The microphthalmia-associated transcription factor (Mitf) gene and its role in regulating eye function. Sci Rep 9, 15386 (2019) doi:10.1038/s41598-019-51819-0
Abstract
Mutations in the microphthalmia-associated transcription factor (Mitf) gene can cause retinal pigment epithelium (RPE) and retinal dysfunction and degeneration. We examined retinal and RPE structure and function in 3 month old mice homo- or heterozygous or compound heterozygous for different Mitf mutations (Mitfmi-vga9/+, Mitfmi-enu22(398)/Mitfmi-enu22(398), MitfMi-Wh/+ and MitfMi-Wh/Mitfmi) which all have normal eye size with apparently normal eye pigmentation. Here we show that their vision and retinal structures are differentially affected. Hypopigmentation was evident in all the mutants while bright-field fundus images showed yellow spots with non-pigmented areas in the Mitfmi-vga9/+ mice. MitfMi-Wh/+ and MitfMi-Wh/Mitfmi mice showed large non-pigmented areas. Fluorescent angiography (FA) of all mutants except Mitfmi-vga9/+ mice showed hyperfluorescent areas, whereas FA from both Mitf-Mi-Wh/+ and MitfMi-Wh/Mitfmi mice showed reduced capillary network as well as hyperfluorescent areas. Electroretinogram (ERG) recordings show that MitfMi-Wh/+ and MitfMi-Wh/Mitfmi mice are severely impaired functionally whereas the scotopic and photopic ERG responses of Mitfmi-vga9/+ and Mitfmi-enu22(398)/Mitfmi-enu22(398) mice were not significantly different from wild type mice. Histological sections demonstrated that the outer retinal layers were absent from the MitfMi-Wh/+ and MitfMi-Wh/Mitfmi blind mutants. Our results show that Mitf mutations affect eye function, even in the heterozygous condition and that the alleles studied can be arranged in an allelic series in this respect.
Description
To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Download
Additional Links
https://www.nature.com/articles/s41598-019-51819-0
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6817937/
ae974a485f413a2113503eed53cd6c53
10.1038/s41598-019-51819-0
Scopus Count
Collections
English Journal Articles (Peer Reviewed)

entitlement

Related articles

  • Electroretinographic assessment of retinal function in microphthalmia mutant mice.
  • Authors: Möller A, Eysteinsson T, Steingrímsson E
  • Issue date: 2004 Apr
  • Altered expression of the iron transporter Nramp1 (Slc11a1) during fetal development of the retinal pigment epithelium in microphthalmia-associated transcription factor Mitf(mi) and Mitf(vitiligo) mouse mutants.
  • Authors: Gelineau-van Waes J, Smith L, van Waes M, Wilberding J, Eudy JD, Bauer LK, Maddox J
  • Issue date: 2008 Feb
  • Partial Rescue of Ocular Pigment Cells and Structure by Inducible Ectopic Expression of Mitf-M in MITF-Deficient Mice.
  • Authors: Michael HT, Graff-Cherry C, Chin S, Rauck C, Habtemichael AD, Bunda P, Smith T, Campos MM, Bharti K, Arnheiter H, Merlino G, Day CP
  • Issue date: 2018 Dec 3
  • Hearing dysfunction in heterozygous Mitf(Mi-wh) /+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome.
  • Authors: Ni C, Zhang D, Beyer LA, Halsey KE, Fukui H, Raphael Y, Dolan DF, Hornyak TJ
  • Issue date: 2013 Jan
  • Photoreceptor degeneration in microphthalmia (<i>Mitf</i>) mice: partial rescue by pigment epithelium-derived factor.
  • Authors: Chen Y, Yang J, Geng H, Li L, Li J, Cheng B, Ma X, Li H, Hou L
  • Issue date: 2019 Jan 11

DSpace software (copyright © 2002 - 2021)  DuraSpace
Quick Guide | Contact Us
Open Repository is a service operated by 
Atmire NV
 

Export search results

The export option will allow you to export the current search results of the entered query to a file. Different formats are available for download. To export the items, click on the button corresponding with the preferred download format.

By default, clicking on the export buttons will result in a download of the allowed maximum amount of items.

To select a subset of the search results, click "Selective Export" button and make a selection of the items you want to export. The amount of items that can be exported at once is similarly restricted as the full export.

After making a selection, click one of the export format buttons. The amount of items that will be exported is indicated in the bubble next to export format.