Novel genes in familial recurrent corneal erosion dystrophy: identification with NGS and characterisation in a zebrafish model

被引:0
|
作者
Oliver, Verity Frances [1 ]
van Bysterveldt, Katherine [1 ]
Markie, David [2 ]
Crosier, Philip [3 ]
Mackey, David A. [4 ]
Hewitt, Alex W. [5 ]
Willoughby, Colin E. [6 ]
Sherwin, Trevor [1 ]
McGhee, Charles [1 ,7 ]
Vincent, Andrea L. [1 ,7 ]
机构
[1] Univ Auckland, Dept Ophthalmol, Auckland 1, New Zealand
[2] Univ Otago, Dept Pathol, Dunedin, New Zealand
[3] Univ Auckland, Dept Mol Med & Pathol, Auckland 1, New Zealand
[4] Univ Western Australia, Lion Eye Inst, Ctr Ophthalmol & Visual Sci, Perth, WA 6009, Australia
[5] Univ Melbourne, Ctr Eye Res Australia, Melbourne, Vic, Australia
[6] Univ Liverpool, Inst Ageing & Chron Dis, Dept Eye & Vis Sci, Liverpool L69 3BX, Merseyside, England
[7] Auckland Dist Hlth Board, Greenlane Clin Ctr, Eye Dept, Auckland, New Zealand
关键词
D O I
暂无
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
2528
引用
收藏
页数:3
相关论文
共 50 条
  • [21] NGS-based diagnosis of congenital erythrocytosis: extended targeted NGS and identification of novel candidate genes
    Kristan, Alesa
    Tomc, Jana
    Rezen, Tadeja
    Kunej, Tanja
    Kolic, Rok
    Vuga, Andrej
    Fink, Martina
    Doma, Sasa Anzej
    Zupan, Irena Preloznik
    Pajic, Tadej
    Debeljak, Natasa
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 221 - 222
  • [22] A novel 13q12 microdeletion associated with familial syndromic corneal dystrophy
    Presley, William
    Serpen, Jasmine
    Beil, Adelyn
    Armenti, Stephen
    Johnson, Kayla
    Mian, Shahzad
    Innis, Jeffrey
    Prasov, Lev
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2023, 64 (08)
  • [23] Identification of novel CRC pathway genes in familial CRC
    Lung, M. S.
    Trainer, A.
    Campbell, I.
    ANNALS OF ONCOLOGY, 2016, 27
  • [24] Characterization of a Novel Mouse Model for Fuchs Endothelial Corneal Dystrophy
    Murugan, Subashree
    de Campos, Viviane Souza
    Ghag, Sachin Anil
    Ng, Matthew
    Shyam, Rajalekshmy
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2024, 65 (04)
  • [25] IDENTIFICATION OF NOVEL GENES FOR THE MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY SYNDROMES
    Riemersma, M.
    Buysse, K.
    Roscioli, T.
    Willemsen, M.
    Kamsteeg, E. J.
    Wevers, R. A.
    Morava, E.
    van Bokhoven, H.
    Lefeber, D. J.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2012, 35 : S20 - S20
  • [26] Identification of a novel UBIAD1 mutation in an individual with Schnyder corneal dystrophy
    Chiu, Stephan
    Lin, Benjamin Ray
    Aldave, Anthony J.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2015, 56 (07)
  • [27] IDENTIFICATION OF A NOVEL CHST6 MUTATION IN AN INDIVIDUAL WITH MACULAR CORNEAL DYSTROPHY
    Chiu, S.
    Gee, J.
    Frausto, R.
    Chung, D.
    Aldave, A.
    JOURNAL OF INVESTIGATIVE MEDICINE, 2015, 63 (01) : 155 - 155
  • [28] GENETIC TESTING FOR FAMILIAL HYPERCHOLESTEROLAEMIA IN WALES: IDENTIFICATION OF RECURRENT AND NOVEL VARIANTS
    Haralambos, K.
    Whatley, S.
    Datta, D.
    McDowell, I.
    ATHEROSCLEROSIS, 2012, 223 (02) : 528 - 528
  • [29] Corneal Re-Epithelialization following Phototherapeutic Keratectomy for Recurrent Corneal Erosion as in vivo Model of Epithelial Wound Healing
    Baumeister, Martin
    Buehren, Jens
    Ohrloff, Christian
    Kohnen, Thomas
    OPHTHALMOLOGICA, 2009, 223 (06) : 414 - 418
  • [30] Identification and characterization of novel candidate genes in familial Hirschsprung's disease
    Schmitteckert, S.
    Dawid, D.
    Mederer, T.
    Carstensen, L.
    Roeth, R.
    Guenther, P.
    Rappold, G.
    Romero, P.
    Niesler, B.
    NEUROGASTROENTEROLOGY AND MOTILITY, 2021, 33