Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.T60A
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TTR

NM_000371.4:p.T60A

Associated Papers

[18F]florbetapir PET for early detection of amyloidosis in patients with hereditary transthyretin amyloidosis polyneuropathy.

Kong Y et al.

Genes & Diseases, 2026

A shared amyloid fold in cardiac fibrils from three neuropathy-associated ATTR variants.

Fernandez-Ramirez MDC et al.

Structure (london, England : 1993), 2026

Efficacy of Suppression of Serum Transthyretin With Patisiran and Vutrisiran in Variant ATTR Amyloidosis: An Observational Crossover Study.

Razvi Y et al.

Circulation, 2026

The causative role of amyloidosis in the cardiac complications of Alzheimer's disease: a comprehensive systematic review.

Parker S et al.

The Journal of Physiology, 2026

Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.

Chrysostomaki M et al.

Genes, 2026

Clinical Utility of Serum Neurofilament Light Chain in Peripheral Neuropathy.

Karam C

Muscle & Nerve, 2026

Transthyretin Cardiac Amyloidosis With Reduced Ejection Fraction in a 47-Year-Old Man: An Unusual Presentation.

Moujahid M et al.

Cureus, 2026

Relationship between amyloid choroidopathy and neurological involvement severity scores in transthyretin amyloidosis.

Hamoudi L et al.

Journal Francais D'ophtalmologie, 2025

Predictors of poor prognosis in a large cohort of patients with hereditary cardiac transthyretin amyloidosis.

Ripoll-Vera T et al.

Revista Espanola De Cardiologia (english Ed.), 2025

The Vagal Link: Autonomic Nervous System Dysfunction in Cardiac Amyloidosis.

Barocelli F et al.

Journal of Clinical Medicine, 2025

Structure of ATTRv-F64S fibrils isolated from skin tissue of a living patient.

Yu J et al.

Nature Communications, 2025

Structural and molecular homogeneity of ATTRv-T60A amyloid fibrils across patients and organs.

Fernandez-Ramirez MDC et al.

Structure (london, England : 1993), 2025

Transthyretin cardiac amyloidosis: advances and ambiguities.

Danilov A et al.

Heart Failure Reviews, 2025

Impact of patisiran on polyneuropathy of hereditary transthyretin amyloidosis in patients with a V122I or T60A variant: a phase IV multicenter study.

Hussain Y et al.

Annals of Medicine, 2025

Transthyretin Cardiac Amyloidosis and Heart Failure: State-of-the-Art Review and Practice Guidance.

Bukhari S et al.

Reviews in Cardiovascular Medicine, 2025

Human-Induced Pluripotent Stem Cell Models for Amyloid Cardiomyopathy: From Mechanistic Insights to Therapeutic Discovery.

Liu Y et al.

Journal of Cardiovascular Development and Disease, 2025

Acquired and Genetic Amyloid Neuropathies.

Karam C et al.

Neurologic Clinics, 2025

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

40998828 (PubMed )
Supplement: 41540_2025_582_MOESM1_ESM.pdf

Transthyretin immunohistochemistry on muscle and nerve biopsies detects hereditary and wild-type transthyretin amyloidosis with high sensitivity and specificity.

Elnagdy M et al.

Journal of Neuropathology and Experimental Neurology, 2025

Covert Transthyretin Amyloidosis Mimicking Advanced Obstructive Hypertrophic Cardiomyopathy Despite Multiple Negative 99mTc-PYP Radionuclide Scans.

Reuter M et al.

Jacc. Case Reports, 2025

Genetic and clinical features of hereditary transthyretin amyloidosis: a decade of experience at a Japanese referral center.

Nomura T et al.

Orphanet Journal of Rare Diseases, 2025

Early cardiovascular autonomic failure in ATTRv predicts poor prognosis and may respond to disease-modifying therapy.

Sander L et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2025

Skin Biopsy as a Diagnostic Tool for ATTRv Amyloid Neuropathy in the UK.

O'Donnell LF et al.

Journal of the Peripheral Nervous System : Jpns, 2025

Effect of G83R Mutation on Transthyretin Protein Structural Stability.

Chen X et al.

Acs Omega, 2025

A Shared Amyloid Architecture in Cardiac Fibrils from Three Neuropathy-Associated ATTR Variants.

Fernandez-Ramirez MDC et al.

Biorxiv : the Preprint Server for Biology, 2025

Peripheral Nervous System Involvement of Hereditary Transthyretin Amyloidosis in the United States: A Multi-Center Perspective.

Desai U et al.

Muscle & Nerve, 2025

Uncertain Clinical Relevance of Serial Bone Scintigraphy Findings in Treated Transthyretin Amyloid Cardiomyopathy.

Razvi Y et al.

Jacc. Cardiovascular Imaging, 2025

Phenotypic Presentation and Longitudinal Characterization of Hereditary ATTRv Amyloidosis in Previously Undiagnosed Family Members.

Fazzini L et al.

Jacc. Advances, 2025

Transthyretin amyloid deposition in the ligamentum flavum of an Italian cohort of patients with lumbar spinal stenosis.

Vitali F et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

Early Detection of Transthyretin Cardiac Amyloidosis Using 124I-Evuzamitide Positron Emission Tomography/Computed Tomography.

Smiley DA et al.

Jacc. Cardiovascular Imaging, 2025

Impact of mechanical stress on human transthyretin protein amyloid formation.

You M et al.

International Journal of Biological Macromolecules, 2025

A Multicenter Study of Hereditary Transthyretin Amyloidosis in China.

Chu X et al.

Annals of Neurology, 2025

Therapeutic effect of TTR siRNA on hereditary transthyretin amyloidosis (ATTRv) nephropathy.

Ajiki T et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2025

Cognitive manifestations and brain integrity in hereditary transthyretin amyloidosis: a systematic review.

Senem I et al.

Journal of Neurology, 2025

Pharmacological Management of Transthyretin Amyloid Cardiomyopathy: Where We Are and Where We Are Going.

De Michieli L et al.

Journal of Clinical Medicine, 2025

The contribution of genetics to the understanding and management of cardiomyopathies: Part 2.

Cardoso I et al.

Revista Portuguesa De Cardiologia : Orgao Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology, 2025

Diagnosis and Management of Mixed Phenotype Hereditary Transthyretin Amyloidosis: A Case-Based, Canadian Perspective.

Fine N et al.

Cjc Open, 2025

Hereditary transthyretin amyloidosis (ATTRv).

Triposkiadis F et al.

Current Problems in Cardiology, 2025

Intraepineurial Fat Fraction: A Novel MR Neurography-Based Biomarker in Transthyretin Amyloidosis Polyneuropathy.

Cruz ES et al.

European Journal of Neurology, 2025

Oxidative conversion of transthyretin in formalin-fixed clinical amyloid samples results in the formation of the His90Asp and His90Asn variants.

Raheja S et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2025

Hereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical Characteristics.

Dori A et al.

European Journal of Neurology, 2025

Transthyretin Cardiac Amyloidosis in Australia and New Zealand-A Multi-Site Snapshot for 2022.

Geenty P et al.

Heart, Lung & Circulation, 2025

A case series of patients with cardiac amyloidosis evaluated at a Colombian university hospital.

López-Ponce de León JD et al.

Frontiers in Cardiovascular Medicine, 2025

Transthyretin-related amyloid cardiomyopathy: A single-center experience in southern Poland, an endemic area.

Holcman K et al.

Kardiologia Polska, 2025

His108Arg Transthyretin Amyloidosis-Shedding Light on a Distinctively Malignant Variant.

Binder C et al.

Journal of Clinical Medicine, 2024

Management of Hereditary Transthyretin Amyloidosis (ATTRv) Patients and Asymptomatic Carriers in Spain: The EMPATIa Study.

Losada López I et al.

Journal of Clinical Medicine, 2024

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