The diagnostic yield of next generation sequencing in inherited retinal diseases: a systematic review and meta-analysis
AC Britten-Jones, SA Gocuk, KL Goh, A Huq… - American Journal of …, 2023 - Elsevier
PURPOSE Accurate genotyping of individuals with inherited retinal diseases (IRD) is
essential for patient management and identifying suitable candidates for gene therapies …
essential for patient management and identifying suitable candidates for gene therapies …
Frizzled receptors in development and disease
Frizzled proteins are the principal receptors for the Wnt family of ligands. They mediate
canonical Wnt signaling together with Lrp5 and Lrp6 coreceptors. In conjunction with Celsr …
canonical Wnt signaling together with Lrp5 and Lrp6 coreceptors. In conjunction with Celsr …
[HTML][HTML] Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease
Inherited retinal disease is a common cause of visual impairment and represents a highly
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …
[HTML][HTML] Catenin α 1 mutations cause familial exudative vitreoretinopathy by overactivating Norrin/β-catenin signaling
X Zhu, M Yang, P Zhao, S Li, L Zhang… - The Journal of …, 2021 - Am Soc Clin Investig
Familial exudative vitreoretinopathy (FEVR) is a severe retinal vascular disease that causes
blindness. FEVR has been linked to mutations in several genes associated with inactivation …
blindness. FEVR has been linked to mutations in several genes associated with inactivation …
[HTML][HTML] Defects in the cell signaling mediator β-catenin cause the retinal vascular condition FEVR
ES Panagiotou, CS Soriano, JA Poulter, EC Lord… - The American Journal of …, 2017 - cell.com
Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder characterized
by the abnormal development of the retinal vasculature. The majority of mutations identified …
by the abnormal development of the retinal vasculature. The majority of mutations identified …
Clinical phenotype and relevance of LRP5 and LRP6 variants in patients with early‐onset osteoporosis (EOOP)
J Stürznickel, T Rolvien, A Delsmann… - Journal of Bone and …, 2020 - academic.oup.com
Reduced bone mineral density (BMD; ie, Z‐score≤− 2.0) occurring at a young age (ie,
premenopausal women and men< 50 years) in the absence of secondary osteoporosis is …
premenopausal women and men< 50 years) in the absence of secondary osteoporosis is …
[HTML][HTML] Familial exudative vitreoretinopathy: pathophysiology, diagnosis, and management
Z Tauqeer, Y Yonekawa - Asia-Pacific journal of ophthalmology, 2018 - Elsevier
Familial exudative vitreoretinopathy (FEVR) is a heritable vitreoretinopathy characterized by
anomalous retinal vascular development. The principal feature of the disease is an …
anomalous retinal vascular development. The principal feature of the disease is an …
Familial Exudative Vitreoretinopathy‐Related Disease‐Causing Genes and Norrin/β‐Catenin Signal Pathway: Structure, Function, and Mutation Spectrums
H Xiao, Y Tong, Y Zhu, M Peng - Journal of ophthalmology, 2019 - Wiley Online Library
Familial exudative vitreoretinopathy (FEVR) is a hereditary ocular disorder characterized by
incomplete vascularization/abnormality of peripheral retina. Four of the identified disease …
incomplete vascularization/abnormality of peripheral retina. Four of the identified disease …
Exome sequencing revealed Notch ligand JAG1 as a novel candidate gene for familial exudative vitreoretinopathy
L Zhang, X Zhang, H Xu, L Huang, S Zhang, W Liu… - Genetics in …, 2020 - nature.com
Purpose Familial exudative vitreoretinopathy (FEVR) is a blindness-causing retinal vascular
disease characterized by incomplete vascularization of the peripheral retina and by the …
disease characterized by incomplete vascularization of the peripheral retina and by the …
[HTML][HTML] Spectrum of variants in 389 Chinese probands with familial exudative vitreoretinopathy
JK Li, Y Li, X Zhang, CL Chen, YQ Rao… - … & Visual Science, 2018 - iovs.arvojournals.org
Purpose: To identify potentially pathogenic variants (PPVs) in Chinese familial exudative
vitreoretinopathy (FEVR) patients in FZD4, LRP5, NDP, TSPAN12, ZNF408, and KIF11 …
vitreoretinopathy (FEVR) patients in FZD4, LRP5, NDP, TSPAN12, ZNF408, and KIF11 …