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

Functional variation of the transthyretin gene among human populations and its correlation with amyloidosis phenotypes.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Dec 2013

Polimanti Renato, Di Girolamo Marco, Manfellotto Dario, Fuciarelli Maria

Abstract excerpt

INTRODUCTION: Heterogeneity in the genotype-phenotype correlation of transthyretin (TTR)-related amyloidosis has been reported, suggesting that other factors may interact with disease-causing mutations. Additional genetic variants in the TTR gene and its surrounding regions may influence disease phenotype. To explore this hypothesis, we analyzed the TTR variation among human populations to identify functional...

Read the complete abstract on PubMed

Topics

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

Share to Amyloidosis
Share to Black People

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to REST gene

Share to TTR gene

Share to Genotype

Share to Haplotypes

Share to Mutation

Share to Prealbumin

Source

Identifiers

PMID: 24111657
DOI: 10.3109/13506129.2013.844689

Genes

TTR
REST

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional variation of the transthyretin gene among human populations and its correlation with amyloidosis phenotypes.PMID 24111657Read ↗

In silico analysis of TTR gene (coding and non-coding regions, and interactive network) and its implications in transthyretin-related amyloidosis.Semantic proximity Read ↗

Genetic variation of the transthyretin gene in wild-type transthyretin amyloidosis (ATTRwt).Semantic proximity Read ↗

Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.Semantic proximity Read ↗

Phenome-wide association study of TTR and RBP4 genes in 361,194 individuals reveals novel insights in the genetics of hereditary and wildtype transthyretin amyloidoses.Semantic proximity Read ↗

Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins.Semantic proximity Read ↗

Phenome-wide association study of <i>TTR</i> and <i>RBP4</i> genes in 361,194 individuals reveals novel insights in the genetics of hereditary and senile systemic amyloidosesSemantic proximity Read ↗

Epigenomic Profiles of African-American Transthyretin Val122Ile Carriers Reveals Putatively Dysregulated Amyloid Mechanisms.Semantic proximity Read ↗

Rare Genetic Variants of the Transthyretin Gene Are Associated with Alzheimer's Disease in Han Chinese.Semantic proximity Read ↗

Epigenomic profiles of African American <i>Transthyretin</i> Val122Ile carriers reveals putatively dysregulated amyloid mechanismsSemantic proximity Read ↗

Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining.Semantic proximity Read ↗

Genomic Screening for Pathogenic Transthyretin Variants Finds Evidence of Underdiagnosed Amyloid Cardiomyopathy From Health RecordsSemantic proximity Read ↗

Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis.Semantic proximity Read ↗

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