Associated Papers
Identifying Subclinical Transthyretin Cardiac Amyloidosis in V142I TTR Carriers: Design, Rationale, and Methods of the VISTA (Variant Imaging of Subclinical Transthyretin Amyloidosis) Study.
Jefferson A et al.
The American Journal of Cardiology, 2026
Genetic landscape of hereditary transthyretin amyloidosis in Spain: a multicentric retrospective study.
Domínguez-Martínez M et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2025
Unravelling the myriad physiologic roles of transthyretin: critical considerations for treating transthyretin amyloidosis.
Gertz MA et al.
Annals of Medicine, 2025
Integrative structural profiling and ligand optimisation across the transthyretin mutational landscape.
Lomoio U et al.
Npj Systems Biology and Applications, 2025
Hereditary Transthyretin Amyloidosis: Genetic Characterization of the TTR P.Val142Ile Variant in a Calabrian Kindred.
Dinatolo F et al.
Genes, 2025
A Multicenter Study of Hereditary Transthyretin Amyloidosis in China.
Chu X et al.
Annals of Neurology, 2025
Prevalence estimation of ATTRv in China based on genetic databases.
Yongsheng Z et al.
Frontiers in Genetics, 2023
Three Newly Recognized Likely Pathogenic Gene Variants Associated with Hereditary Transthyretin Amyloidosis.
Patel JK et al.
Neurology and Therapy, 2022
Amyloidogenicity assessment of transthyretin gene variants.
Grether NB et al.
Annals of Clinical and Translational Neurology, 2022
Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Austrian position and review of the literature.
Dohrn MF et al.
Journal of Neurology, 2021
Transthyretin-stabilising mutation T119M is not associated with protection against vascular disease or death in the UK Biobank.
Parker MM et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2020
Presence of val30Met and val122ile mutations in a patient with hereditary amyloidosis.
da Silva-Batista JA et al.
Journal of Human Genetics, 2020
Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data.
Lahuerta Pueyo C et al.
European Journal of Human Genetics : Ejhg, 2019
A Missense Variant p.Ala117Ser in the Transthyretin Gene of a Han Chinese Family with Familial Amyloid Polyneuropathy.
Chen Q et al.
Molecular Neurobiology, 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
Biochemical properties and aggregation propensity of transforming growth factor-induced protein (TGFBIp) and the amyloid forming mutants.
Lakshminarayanan R et al.
The Ocular Surface, 2015
Functional variation of the transthyretin gene among human populations and its correlation with amyloidosis phenotypes.
Polimanti R et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2013