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

A Low-Frequency APOB p.(Pro955Ser) Variant Contributes to the Severity of/Variability in Familial Hypercholesterolemia.

The Journal of clinical endocrinology and metabolism - 17 Jan 2023

Hori Mika, Takahashi Atsushi, Hosoda Kiminori, Ogura Masatsune, Harada-Shiba Mariko

Abstract excerpt

CONTEXT: Heterozygous familial hypercholesterolemia (HeFH) is caused by a rare pathogenic variant in the LDLR, APOB, and PCSK9 genes. However, the causative variants in these genes have not been identified in approximately 40% of HeFH patients. OBJECTIVE: Our aim was to identify novel (or additional) genes/variants that contribute to HeFH. METHODS: Whole-exome sequencing was performed for 215 family members from...

Read the complete abstract on PubMed

Topics

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

Share to Apolipoproteins B
Share to Hypercholesterolemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperlipoproteinemia Type II

Share to Lipoproteins and Cardiovascular Health

Share to Mutation

Share to Phenotype

Share to Proprotein Convertase 9

Share to Receptors, LDL

Source

Identifiers

PMID: 36190978
DOI: 10.1210/clinem/dgac572

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

A Low-Frequency APOB p.(Pro955Ser) Variant Contributes to the Severity of/Variability in Familial Hypercholesterolemia.PMID 36190978Read ↗

The first Japanese cases of familial hypercholesterolemia due to a known pathogenic APOB gene variant, c.10580 G>A: p.(Arg3527Gln).Semantic proximity Read ↗

The Spectrum of Genetic Causes of Familial Hypercholesterolemia Phenotype.Semantic proximity Read ↗

Genetic Heterogeneity of Familial Hypercholesterolemia: Repercussions for Molecular Diagnosis.Semantic proximity Read ↗

Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlationSemantic proximity Read ↗

Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis.Semantic proximity Read ↗

Prevalence and penetrance of pathogenic and likely pathogenic LDLR and APOB gene variants linked to familial hypercholesterolemia and increased risk of ischemic heart diseaseSemantic proximity Read ↗

Genetic Landscape of Familial Hypercholesterolemia in Southern India: Novel Mutations and Clinical ImplicationsSemantic proximity Read ↗

Clinical Aspects of Genetic and Non-Genetic Cardiovascular Risk Factors in Familial HypercholesterolemiaSemantic proximity Read ↗

Why patients with familial hypercholesterolemia are at high cardiovascular risk? Beyond LDL-C levels.Semantic proximity Read ↗

The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes.Semantic proximity Read ↗

[Analysis of gene variant spectrum associated with Familial hypercholesterolemia in a regional population: A retrospective study based on exome sequencing of 15 841 cases].Semantic proximity Read ↗

The Prevalence and Genetic Spectrum of Familial Hypercholesterolemia in Qatar Based on Whole Genome Sequencing of 14,000 SubjectsSemantic proximity Read ↗

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