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
Acoramidis in transthyretin amyloid cardiomyopathy: expanding evidence from ATTRibute-CM.
Sarswat N et al.
Future Cardiology, 2026
Efficacy of Acoramidis in Wild-Type and Variant Transthyretin Amyloid Cardiomyopathy: Results From ATTRibute-CM and Its Open-Label Extension.
Alexander KM et al.
Jama 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
Circulating transthyretin with atrial morpho-functional phenotypes and atrial fibrillation risk, and the modifying role of BMI.
Zhang N et al.
Bmc Medicine, 2025
Integrative structural profiling and ligand optimisation across the transthyretin mutational landscape.
Lomoio U et al.
Npj Systems Biology and Applications, 2025
Genetic testing and evidence of a founder mutation in a hotspot for hereditary transthyretin amyloidosis.
Ventayol-Guirado M et al.
Scientific Reports, 2025
Hereditary Transthyretin Amyloidosis: Genetic Characterization of the TTR P.Val142Ile Variant in a Calabrian Kindred.
Dinatolo F et al.
Genes, 2025
Euthyroid hyperthyroxinemia: relevance of albumin and transthyretin genetic variations in a single centre experience.
Piva I et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025
Current Landscape of Therapies for Transthyretin Amyloid Cardiomyopathy.
Griffin JM et al.
Jacc. Heart Failure, 2025
Biomarkers in Subclinical Transthyretin Cardiac Amyloidosis.
Gulati JS et al.
Current Heart Failure Reports, 2025
Transthyretin Tetramer Destabilization and Increased Mortality in the General Population.
Christoffersen M et al.
Jama Cardiology, 2025
[Update in 'wild-type' transthyretin cardiac amyloidosis: Clinical guide for its diagnosis and treatment].
Herrador L et al.
Medicina Clinica, 2024
Structural and thermodynamic characterization of a highly amyloidogenic dimer of transthyretin involved in a severe cardiomyopathy.
Martins LDA et al.
The Journal of Biological Chemistry, 2024
Circulating transthyretin and retinol binding protein 4 levels among middle-age V122I TTR carriers in the general population.
Hendren NS et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2024
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
Approach to the Patient With Raised Thyroid Hormones and Nonsuppressed TSH.
Moran C et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
A review of recent clinical trials to evaluate disease-modifying therapies in the treatment of cardiac amyloidosis.
Senigarapu S et al.
Frontiers in Medicine, 2024
Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set.
Stein D et al.
Genome Medicine, 2023
[A rare variant in the TTR gene (p.E112K) is associated with systemic amyloidosis and a new symptom - skin hyperemia in response to ethanol intake: family segregation analysis, literature review, and a clinical case. Case report].
Chumakova OS et al.
Terapevticheskii Arkhiv, 2023
Oral Therapy for the Treatment of Transthyretin-Related Amyloid Cardiomyopathy.
Nuvolone M et al.
International Journal of Molecular Sciences, 2022
A natural history analysis of asymptomatic TTR gene carriers as they develop symptomatic transthyretin amyloidosis in the Transthyretin Amyloidosis Outcomes Survey (THAOS).
Coelho T et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2022
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
Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.
Teerlink CC et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2022
Large-scale integration of the plasma proteome with genetics and disease.
Ferkingstad E et al.
Nature Genetics, 2021
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
ATTR Amyloidosis: Current and Emerging Management Strategies: JACC: CardioOncology State-of-the-Art Review.
Griffin JM et al.
Jacc. Cardiooncology, 2021
Practical recommendations for the diagnosis and management of transthyretin cardiac amyloidosis.
Bistola V et al.
Heart Failure Reviews, 2021
Beyond Val30Met transthyretin (TTR): variants associated with age-at-onset in hereditary ATTRv amyloidosis.
Alves-Ferreira M et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2021
Pathophysiology and Therapeutic Approaches to Cardiac Amyloidosis.
Griffin JM et al.
Circulation Research, 2021
Association of Low Plasma Transthyretin Concentration With Risk of Heart Failure in the General Population.
Greve AM et al.
Jama Cardiology, 2021
Targeting transthyretin - Mechanism-based treatment approaches and future perspectives in hereditary amyloidosis.
Dohrn MF et al.
Journal of Neurochemistry, 2021
Transthyretin cardiac amyloidosis: A treatable form of heart failure with a preserved ejection fraction.
Griffin JM et al.
Trends in Cardiovascular Medicine, 2021
Drug Discovery and Development in Rare Diseases: Taking a Closer Look at the Tafamidis Story.
Burton A et al.
Drug Design, Development and Therapy, 2021
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro M et al.
Acta Ophthalmologica, 2020
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
Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots.
Auer-Grumbach M et al.
Journal of Clinical Medicine, 2020
The Genetic Basis of Thyroid Function: Novel Findings and New Approaches.
Kuś A et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.
Blumenau S et al.
Scientific Reports, 2020
Cellular secretion and cytotoxicity of transthyretin mutant proteins underlie late-onset amyloidosis and neurodegeneration.
Ibrahim RB et al.
Cellular and Molecular Life Sciences : Cmls, 2020
Diagnosis of genetic amyloidosis through the analysis of transthyretin gene mutation using high-resolution melting.
Lahuerta C et al.
International Journal of Cardiology, 2020