Associated Papers
Effectiveness and Utility of Genetic Testing in Establishing a Diagnosis of Hereditary Transthyretin Amyloidosis.
Singh A et al.
Journal of Clinical 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 in Patients Referred to a Genetic Testing Program.
Bhatt K et al.
Journal of the American Heart Association, 2024
Correction: "Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders".
Martin S et al.
Bmc Cardiovascular Disorders, 2024
"Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders".
Martin S et al.
Bmc Cardiovascular Disorders, 2024
Prevalence estimation of ATTRv in China based on genetic databases.
Yongsheng Z et al.
Frontiers in Genetics, 2023
Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.
Borgio JF
Archives of Medical Science : Ams, 2023
Amyloidogenicity assessment of transthyretin gene variants.
Grether NB et al.
Annals of Clinical and Translational Neurology, 2022
Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining.
Abouelhoda M et al.
Human Genomics, 2021
A variety of changes, including CRISPR/Cas9-mediated deletions, in CENH3 lead to haploid induction on outcrossing.
Kuppu S et al.
Plant Biotechnology Journal, 2020
Analyses Mutations in GSN, CST3, TTR, and ITM2B Genes in Chinese Patients With Alzheimer's Disease.
Jiang Y et al.
Frontiers in Aging Neuroscience, 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
Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.
Mazzarotto F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Proteomic Analysis of Amyloid Corneal Aggregates from TGFBI-H626R Lattice Corneal Dystrophy Patient Implicates Serine-Protease HTRA1 in Mutation-Specific Pathogenesis of TGFBIp.
Venkatraman A et al.
Journal of Proteome Research, 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