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

Role of sEH R287Q in LDLR expression, LDL binding to LDLR and LDL internalization in BEL-7402 cells.

Gene - 15 Aug 2018

Tang Ling, Wang Guoliang, Jiang Long, Chen Panpan, Wang Wei, Chen Juan, Wang Luya

Abstract excerpt

OBJECTIVES: Familial hypercholesterolemia (FH) is an autosomal dominant disorder of cholesterol metabolism. Three recognized genes (LDLR, APOB and PCSK9) present in only 20-30% of patients with possible FH cases. Additional FH-causing genes need to be explored. The present study found an isolated gene change, sEH R287Q, in a core family of FH. In this study, we aimed to investigate the roles of R287Q on sEH...

Read the complete abstract on PubMed

Topics

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

Share to Cell Line
Share to Epoxide Hydrolases
Share to Hyperlipoproteinemia Type II

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lipoproteins, LDL

Share to Pedigree

Share to Protein Binding

Share to Protein Transport

Share to Receptors, LDL

Source

Identifiers

PMID: 29665449
DOI: 10.1016/j.gene.2018.04.038

Genes

LDLR
APOB
PCSK9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Role of sEH R287Q in LDLR expression, LDL binding to LDLR and LDL internalization in BEL-7402 cells.PMID 29665449Read ↗

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

Genomics, epigenomics and pharmacogenomics of familial hypercholesterolemia (FHBGEP): A study protocolSemantic proximity Read ↗

Gene-gene interactions protect against Familial Hypercholesterolemia: effect of lost- of-function <i>PCSK9</i> variantsSemantic proximity Read ↗

Functional analysis of low-density lipoprotein receptor in homozygous familial hypercholesterolemia patients with novel 1439 C-->T mutation of low-density lipoprotein receptor gene.Semantic proximity Read ↗

Effects of LDLR variants rs5928, rs750518671 and rs879254797 on protein structure and functional activity in HepG2 cells transfected with CRISPR/Cas9 constructs.Semantic proximity Read ↗

Expanding the genetic spectrum for Chinese familial hypercholesterolemia population with six genetic mutations identified using a next-generation sequencing-based laboratory-developed screening test.Semantic proximity Read ↗

Novel mutations of low-density lipoprotein receptor gene in China patients with familial hypercholesterolemia.Semantic proximity Read ↗

Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.Semantic proximity Read ↗

Genetic Analysis of Japanese Children Clinically Diagnosed with Familial Hypercholesterolemia.Semantic proximity Read ↗

Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencingSemantic proximity Read ↗

A catalog of the pathogenic mutations of LDL receptor gene in Japanese familial hypercholesterolemia.Semantic proximity Read ↗

The distribution and characteristics of LDL receptor mutations in China: A systematic review.Semantic proximity Read ↗

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