Associated Papers
Integrative structural profiling and ligand optimisation across the transthyretin mutational landscape.
Lomoio U et al.
Npj Systems Biology and Applications, 2025
A Multicenter Study of Hereditary Transthyretin Amyloidosis in China.
Chu X et al.
Annals of Neurology, 2025
Hereditary vitreoretinal amyloidosis with transthyretin Gly83Arg variant, a long-term study.
Chen X et al.
Eye (london, England), 2025
The Gly103Arg variant in hereditary transthyretin amyloidosis.
Xiong Y et al.
Frontiers in Neurology, 2024
Clinical features of retinal amyloid angiopathy with transthyretin Gly83Arg variant.
Su G et al.
International Journal of Ophthalmology, 2023
Rare manifestation of familial vitreous amyloidosis caused by Gly103Arg transthyretin.
Feng YB et al.
International Journal of Ophthalmology, 2023
Case Report: Hereditary transthyretin (ATTRv) amyloidosis: The p.G103R mutation of the transthyretin gene in a Han Chinese family is associated with vitreous hemorrhage.
Shen J et al.
Frontiers in Genetics, 2022
Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining.
Abouelhoda M et al.
Human Genomics, 2021
TTR Gly83Arg Mutation: Beyond Familial Vitreous Amyloidosis.
Li Z et al.
Frontiers in Neurology, 2021
Whole Exome Sequencing of Patients from Multicase Families with Systemic Lupus Erythematosus Identifies Multiple Rare Variants.
Delgado-Vega AM et al.
Scientific Reports, 2018
Rare Genetic Variants of the Transthyretin Gene Are Associated with Alzheimer's Disease in Han Chinese.
Xiang Q et al.
Molecular Neurobiology, 2017
Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.
Iorio A et al.
Bmc Genomics, 2017
Multimodal retinal imaging in a Chinese kindred with familial amyloid polyneuropathy secondary to transthyretin Ile107Met mutation.
Lv W et al.
Eye (london, England), 2014
Mutation p.G83R in the transthyretin gene is associated with hereditary vitreous amyloidosis in Han Chinese families.
Zhang AM et al.
Molecular Vision, 2013
[Identification of a TTR gene mutation in a family with hereditary vitreous amyloidosis].
Xie Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2012
[Transthyretin Arg-83 mutation in vitreous amyloidosis].
Chen L et al.
Yan Ke Xue Bao = Eye Science, 2008
Ophthalmological manifestations of hereditary transthyretin amyloidosis.
Gondim FAA et al.
Arquivos Brasileiros De Oftalmologia, 0