Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.A20A
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TTR

NM_000371.4:p.A20A

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

Clinical Utility of Serum Neurofilament Light Chain in Peripheral Neuropathy.

Karam C

Muscle & Nerve, 2026

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

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

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

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

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

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

Impact of mechanical stress on human transthyretin protein amyloid formation.

You M et al.

International Journal of Biological Macromolecules, 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

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

Fine N et al.

Cjc Open, 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

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

ATTRv-V30M amyloid fibrils from heart and nerves exhibit structural homogeneity.

Nguyen BA et al.

Structure (london, England : 1993), 2024

Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.

Bhatt K et al.

Journal of the American Heart Association, 2024

Hereditary transthyretin amyloidosis presenting with prominent autonomic dysfunction.

McCullagh M et al.

Practical Neurology, 2024

Spectrum of hereditary transthyretin amyloidosis due to T60A(p.Thr80Ala) variant in an Irish Amyloidosis Network.

Hewitt K et al.

Open Heart, 2024

Genetic counselling for at-risk family members with hereditary transthyretin amyloidosis: data from a single-centre study.

Nakamura K et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2024

Cryo-EM confirms a common fibril fold in the heart of four patients with ATTRwt amyloidosis.

Nguyen BA et al.

Communications Biology, 2024

Serum neurofilament light chain in hereditary transthyretin amyloidosis: validation in real-life practice.

Carroll AS et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2024

Cardiovascular autonomic failure in hereditary transthyretin amyloidosis and TTR carriers is an early and progressive disease marker.

Chiaro G et al.

Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2024

Transthyretin Cardiac Amyloidosis in an Elderly Male With Heart Failure Intolerant to Guideline-Directed Medical Therapy.

Ene N et al.

Cureus, 2024

ATTRv-V30M Type A amyloid fibrils from heart and nerves exhibit structural homogeneity.

Nguyen BA et al.

Biorxiv : the Preprint Server for Biology, 2024

Multi-organ structural homogeneity of amyloid fibrils in ATTRv-T60A amyloidosis patients, revealed by Cryo-EM.

Fernandez-Ramirez MDC et al.

Biorxiv : the Preprint Server for Biology, 2024

Treatment characteristics of patients with hereditary transthyretin amyloidosis: a cohort study.

Qarni TN et al.

Orphanet Journal of Rare Diseases, 2024

Trypsin-induced aggregation of transthyretin Valine 30 variants associated with hereditary amyloidosis.

Mizuguchi M et al.

The Febs Journal, 2024

Cardiac Amyloidosis Due to Transthyretin Protein: A Review.

Ruberg FL et al.

Jama, 2024

Exploring TTN variants as genetic insights into cardiomyopathy pathogenesis and potential emerging clues to molecular mechanisms in cardiomyopathies.

Jolfayi AG et al.

Scientific Reports, 2024

Clinical and Genotype Characteristics and Symptom Migration in Patients With Mixed Phenotype Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey.

González-Moreno J et al.

Cardiology and Therapy, 2024

Axonal excitability as an early biomarker of nerve involvement in hereditary transthyretin amyloidosis.

Carroll AS et al.

Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2024

Non-Cardiac Amyloidosis Findings Are Not Increased in African American Carriers of TTR V142I with Heart Failure and/or Arrhythmia.

Kaniper S et al.

Journal of Personalized Medicine, 2024

Biochemical and biophysical properties of a rare TTRA81V mutation causing mild transthyretin amyloid cardiomyopathy.

Sha Q et al.

Esc Heart Failure, 2024

Structural polymorphism of amyloid fibrils in ATTR amyloidosis revealed by cryo-electron microscopy.

Nguyen BA et al.

Nature Communications, 2024

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