Gain-of-function mutations in

Autor: Christina Torres, Kozycki, Shilpa, Kodati, Laryssa, Huryn, Hongying, Wang, Blake M, Warner, Priyam, Jani, Dima, Hammoud, Mones S, Abu-Asab, Yingyos, Jittayasothorn, Mary J, Mattapallil, Wanxia Li, Tsai, Ehsan, Ullah, Ping, Zhou, Xiaoying, Tian, Ariane, Soldatos, Niki, Moutsopoulos, Marie, Kao-Hsieh, Theo, Heller, Edward W, Cowen, Chyi-Chia Richard, Lee, Camilo, Toro, Shelley, Kalsi, Zohreh, Khavandgar, Alan, Baer, Margaret, Beach, Debra, Long Priel, Michele, Nehrebecky, Sofia, Rosenzweig, Tina, Romeo, Natalie, Deuitch, Laurie, Brenchley, Eileen, Pelayo, Wadih, Zein, Nida, Sen, Alexander H, Yang, Gary, Farley, David A, Sweetser, Lauren, Briere, Janine, Yang, Fabiano, de Oliveira Poswar, Ida Vanessa D, Schwartz, Tamires, Silva Alves, Perrine, Dusser, Isabelle, Koné-Paut, Isabelle, Touitou, Salah Mohamed, Titah, Petrus Martin, van Hagen, Rogier T A, van Wijck, Peter J, van der Spek, Hiromi, Yano, Andreas, Benneche, Ellen M, Apalset, Ragnhild Wivestad, Jansson, Rachel R, Caspi, Douglas Byron, Kuhns, Massimo, Gadina, Hidetoshi, Takada, Hiroaki, Ida, Ryuta, Nishikomori, Elena, Verrecchia, Eugenio, Sangiorgi, Raffaele, Manna, Brian P, Brooks, Lucia, Sobrin, Robert B, Hufnagel, David, Beck, Feng, Shao, Amanda K, Ombrello, Ivona, Aksentijevich, Daniel L, Kastner, Rachel, Mahoney

Publikováno v: Annals of the rheumatic diseases. 81(10)

To test the hypothesis that ROSAH (retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and headache) syndrome, caused by dominant mutation inThis cohort study systematically evaluated 27 patients with ROSAH syndrome for inflammatory featu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c3e3c21bd5ada9cddabd90227704b7ef
https://pubmed.ncbi.nlm.nih.gov/35868845

The intronic ABCA4 c.5461-10TC variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level

Autor: Per M. Knappskog, Siren Berland, Cecilie Bredrup, Hilde E. Rusaas, Ingvild Aukrust, Gunnar Houge, Marte G. Haug, Agnete Jørgensen, Ragnhild Wivestad Jansson, Eyvind Rødahl

Publikováno v: Acta ophthalmologica. 95(3)

Purpose Despite being the third most common ABCA4 variant observed in patients with Stargardt disease, the functional effect of the intronic ABCA4 variant c.5461-10T>C is unknown. The purpose of this study was to investigate the molecular effect of t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::411dd3139298372435635c65602407bf
https://pubmed.ncbi.nlm.nih.gov/27775217

Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy

Autor: Dordi Austeng, Ragnhild Wivestad Jansson, Siren Berland, Elisabeth Wittström, Cecilie Bredrup, Sten Andréasson

Publikováno v: Ophthalmic genetics. 37(2)

To describe the genotype and phenotype of patients with autosomal recessive bestrophinopathy (ARB), and heterozygous carriers.The members of three unrelated ARB families were investigated. Molecular genetic analysis was performed on 11 members of the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea1438a8bd60b07f8366a6d9a223b1a7
https://pubmed.ncbi.nlm.nih.gov/26333019

Early panretinal photocoagulation for ERG-verified ischaemic central retinal vein occlusion

Autor: Ole Kjeka, Jørgen Krohn, Ragnhild Wivestad Jansson, Cecilie Bredrup

Publikováno v: Acta ophthalmologica. 91(1)

Purpose: We have previously shown that photopic cone b-wave implicit time ≥35.0 ms in 30 Hz flicker electroretinography (ERG) predicts ocular neovascularization (NV) in central retinal vein occlusion (CRVO). Here, we evaluate the effects of early p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20553240f77aa05ea5eeb9c66757f601
https://pubmed.ncbi.nlm.nih.gov/22176715

Clinical features and molecular genetics of patients with ABCA4‐retinal dystrophies.

Autor: Holtan, Josephine Prener^1,2 (AUTHOR) josephih@uio.no, Aukrust, Ingvild^3,4 (AUTHOR) ingvild.aukrust@helse-bergen.no, Jansson, Ragnhild Wivestad⁵ (AUTHOR), Berland, Siren³ (AUTHOR), Bruland, Ove³ (AUTHOR), Gjerde, Birgitt Løkhaug³ (AUTHOR), Stokowy, Tomasz⁶ (AUTHOR), Bojovic, Ognjen³ (AUTHOR), Forsaa, Vegard⁷ (AUTHOR), Austeng, Dordi⁸ (AUTHOR), Rødahl, Eyvind^5,9 (AUTHOR), Bredrup, Cecilie^5,9 (AUTHOR), Knappskog, Per Morten^3,4 (AUTHOR), Bragadóttir, Ragnheiður^1,2 (AUTHOR)

Publikováno v: Acta Ophthalmologica (1755375X). Aug2021, Vol. 99 Issue 5, pe733-e746. 14p.