Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease

被引：0

作者：

Stone, Edwin ^{[1
,2
]}

Tucker, Budd ^{[1
]}

Braun, Terry ^{[1
]}

Mullins, Robert ^{[1
]}

Wagner, Alex ^{[1
]}

Jacobson, Samuel ^{[3
]}

Cideciyan, Artur ^{[3
]}

Lam, Byron ^{[4
]}

Fishman, Gerald ^{[5
]}

机构：

[1] Univ Iowa, Inst Vis Res, Dept Ophthalmol, Iowa City, IA USA

[2] Howard Hughes Med Inst, Iowa City, IA USA

[3] Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Philadelphia, PA 19104 USA

[4] Univ Miami, Bascom Palmer Eye Inst, Dept Ophthalmol, Miami, FL USA

[5] Chicago Lighthouse People Who Are Blind Visually, Chicago, IL USA

来源：

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2013年 / 54卷 / 15期

关键词：

688; retina; 539; genetics; 721 stem cells;

D O I：

暂无

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

4973

引用

页数：3

共 50 条

[41] Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function
Melita Kaltak
Rocio Blanco-Garavito
Laurie L. Molday
Claire-Marie Dhaenens
Eric E. Souied
Gerard Platenburg
Jim Swildens
Robert S. Molday
Frans P. M. Cremers
Journal of Translational Medicine, 21
[42] Intronic variants in ABCA4 significantly contribute to the pathogenesis of Stargardt disease and cone-rod dystrophy in Ireland
Whelan, Laura
Dockery, Adrian
Khan, Mubeen
Cornelis, Stephanie
Wynne, Niamh
O'Byrne, James
Zhu, Julia
Turner, Jacqueline
Stephenson, Kirk
Silvestri, Giuliana
Keegan, David J.
Kenna, Paul
Roosing, Susanne
Dhaenens, Claire Marie
Farrar, G. Jane
Cremers, Frans P.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2020, 61 (07)
[43] ABCA4 sequence variants in Chinese patients with age-related macular degeneration or Stargardt's disease
Baum, L
Chan, WM
Li, WY
Lam, DSC
Wang, PB
Pang, CP
OPHTHALMOLOGICA, 2003, 217 (02) : 111 - 114
[44] Genetic test results of patients clinically diagnosed with Stargardt disease: Novel ABCA4 variants from Turkey
Tuncay, Fulya Yaylacioglu
Acar, Burak
Yuksel, Murat
Kayhan, Gulsum
Ergun, Mehmet Ali
Ozdek, Sengul
EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 961 - 962
[45] Rule out compound heterozygous exonic/deep intronic ABCA4 variants in an MNGIE patient with Stargardt disease
Finsterer, Josef
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2024, 194 (01) : 117 - 118
[46] Targeted identification of reported deep-intronic variants in ABCA4 in 224 French Stargardt disease cases
Dhaenens, Claire-Marie
Khan, Mubeen
Devos, Aurore
Piriou, Charlene
Elmelik, Duaa
Manders, Eline
Goreki, Emeline
Perdomo, Yaumara
Dollfus, Helene
Zanlonghi, Xavier
Bocquet, Beatrice
Meunier, Isabelle Anne
Puech, Bernard
defoort, Sabine
Cremers, Frans P.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2019, 60 (09)
[47] Demonstration of the pathogenicity of a common non-exomic mutation in ABCA4 using iPSC-derived retinal organoids, retinal pigment epithelium, and retrospective clinical data
Burnight, Erin
Cranston, Cathryn
Daggett, Heather
Mullins, Janet
Stone, Edwin
Tucker, Budd
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2023, 64 (08)
[48] Identification and functional analysis of novel deep intronic and structural ABCA4 variants in 876 Stargardt disease cases
Corradi, Zelia
Khan, Mubeen
Mishra, Ketan
Whelan, Laura
Hitti-Malin, Rebekkah
Cornelis, Stephanie
Dhaenens, Claire-Marie
Farrar, G. Jane
Sharon, Dror
Cremers, Frans P. M.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2021, 62 (08)
[49] Common synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy)
Felix Grassmann
Richard Bergholz
Julia Mändl
Herbert Jägle
Klaus Ruether
Bernhard HF Weber
BMC Ophthalmology, 15
[50] Common synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy)
Grassmann, Felix
Bergholz, Richard
Maendl, Julia
Jaegle, Herbert
Ruether, Klaus
Weber, Bernhard H. F.
BMC OPHTHALMOLOGY, 2015, 15

← 1 2 3 4 5 →