Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

ESC heart failure - 1 Feb 2024

Sha Qiuyan, Zhang Yanli, Wang Mengdie, Sun Jialu, Zhang Yunlong, Zhang Xinxin, Wang Ning, Liu Yu, Liu Ying

Abstract excerpt

AIMS: We conducted a presentation on an 84-year-old male patient who has been diagnosed with TTRA81V (p. TTRA101V) hereditary transthyretin cardiac amyloidosis (hATTR-CM). In order to establish its pathogenicity, we extensively investigated the biochemical and biophysical properties of the condition. METHODS AND RESULTS: Transthyretin amyloid cardiomyopathy (ATTR-CM) is an increasingly acknowledged progressive...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged, 80 and over
Share to Amyloid Neuropathies, Familial

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cardiomyopathies

Share to Contrast Media

Share to Gadolinium

Share to Prealbumin

Share to Stroke Volume

Share to Ventricular Function, Left

Source

Open in PubMed Open full text

Identifiers

PMID: 37827496
DOI: 10.1002/ehf2.14543
PMCID: PMC10804152

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Biochemical and biophysical properties of a rare TTRA81V mutation causing mild transthyretin amyloid cardiomyopathy.PMID 37827496Read ↗

Transthyretin amyloidosis: an under-recognized neuropathy and cardiomyopathySemantic proximity Read ↗

Biochemical and biophysical properties of an unreported T96R mutation causing transthyretin cardiac amyloidosis.Semantic proximity Read ↗

Pathogenic Characterization of a Novel G47R Transthyretin Mutation in Early-Onset Amyloid Cardiomyopathy.Semantic proximity Read ↗

Clinical and Biochemical Characterization of Hereditary ATTR Amyloidosis Caused by a Novel Transthyretin Variant V121A (p.V141A)Semantic proximity Read ↗

Not So Rare After All: Rethinking Hereditary Transthyretin AmyloidosisSemantic proximity Read ↗

Hereditary transthyretin amyloidosis overview.Semantic proximity Read ↗

Characterization of Transthyretin Mutation G47V Associated with Hereditary Cardiac Amyloidosis.Semantic proximity Read ↗

A novel TTR mutation (p.Ala65Val) underlying late-onset hereditary transthyretin (ATTRv) amyloidosis with mixed cardiac and neuropathic phenotype: a case report.Semantic proximity Read ↗

Transthyretin Amyloid Cardiomyopathy–2025 Update: Current Diagnostic Approaches and Emerging Therapeutic OptionsSemantic proximity Read ↗

Disease-Specific Biomarkers in Transthyretin Cardiac Amyloidosis.Semantic proximity Read ↗

Hereditary Transthyretin Cardiac Amyloidosis With the p.V142I Variant: Mechanistic Insights and Diagnostic Challenges.Semantic proximity Read ↗

Transthyretin mutagenesis: impact on amyloidogenesis and disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.