Identifisering av gener assosiert med arvelig øyesykdom
- Prosjektnummer
- 911466
- Ansvarlig person
- Cecilie Bredrup
- Institusjon
- Helse Bergen HF
- Prosjektkategori
- Forskerutdanning - postdoc
- Helsekategori
- Eye
- Forskningsaktivitet
- 2. Aetiology, 5. Treatment Developement
The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level.
Acta Ophthalmol 2017 May;95(3):240-246. Epub 2016 okt 24
PMID: 27775217
Visual impairment in children and adolescents in Norway.
Tidsskr Nor Laegeforen 2016 Jun;136(11):996-1000. Epub 2016 jun 21
PMID: 27325032
Role of Decorin Core Protein in Collagen Organisation in Congenital Stromal Corneal Dystrophy (CSCD).
PLoS One 2016;11(2):e0147948. Epub 2016 feb 1
PMID: 26828927
Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy.
Ophthalmic Genet 2016 Jun;37(2):183-93. Epub 2015 sep 2
PMID: 26333019
Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin.
Invest Ophthalmol Vis Sci 2015 May;56(5):2909-15.
PMID: 26029887
High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2).
Am J Ophthalmol 2015 May;159(5):973-9.e2. Epub 2015 jan 26
PMID: 25634536
IC3D classification of corneal dystrophies--edition 2.
Cornea 2015 Feb;34(2):117-59.
PMID: 25564336
Ocular pterygium--digital keloid dysplasia.
Am J Med Genet A 2014 Nov;164A(11):2901-7. Epub 2014 aug 14
PMID: 25124224
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.
Orphanet J Rare Dis 2013;8():1. Epub 2013 jan 3
PMID: 23286897
Early panretinal photocoagulation for ERG-verified ischaemic central retinal vein occlusion.
Acta Ophthalmol 2013 Feb;91(1):37-41. Epub 2011 des 16
PMID: 22176715
[The IC3D classification of the corneal dystrophies].
Klin Monbl Augenheilkd 2011 Jan;228 Suppl 1():S1-39. Epub 2011 feb 2
PMID: 21290351
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.
Am J Hum Genet 2011 Nov;89(5):634-43. Epub 2011 okt 20
PMID: 22019273
Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy.
Invest Ophthalmol Vis Sci 2010 Nov;51(11):5578-82. Epub 2010 mai 19
PMID: 20484579
Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.
Am J Hum Genet 2010 Sep;87(3):410-7.
PMID: 20797687
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
Am J Hum Genet. 2017 (januar)
- Kåre Steinar Tveit Prosjektdeltaker
- Kamal Babikeir Eln Mustafa Prosjektdeltaker
- Anne Elisabeth C. Mellgren Prosjektdeltaker
- Sabine Maria Leh Prosjektdeltaker
- Damien Brackman Prosjektdeltaker
- Stefan Johansson Prosjektdeltaker
- Gunnar Houge Prosjektdeltaker
- Ove Bruland Prosjektdeltaker
- Helge Boman Prosjektdeltaker
- Per Knappskog Medveileder
- Eyvind Rødahl Hovedveileder
- Cecilie Bredrup Postdoktor
- Raoul Hennekam Prosjektdeltaker
- Gunnar Jr Høvding Prosjektdeltaker
- Olav Haugen Prosjektdeltaker
- Jostein Kråkenes Prosjektdeltaker
- Laurence Bindoff Prosjektdeltaker
eRapport er utarbeidet av Sølvi Lerfald og Reidar Thorstensen, Regionalt kompetansesenter for klinisk forskning, Helse Vest RHF, og videreutvikles av de fire RHF-ene i fellesskap, med støtte fra Helse Vest IKT
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