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 novel HIF2A mutation causes dyslipidemia and promotes hepatic lipid accumulation.

Pharmacological research - 1 Aug 2023

Gao Feiqiong, Yao Qigu, Zhu Jiaqi, Chen Wenyi, Feng Xudong, Feng Bing, Wu Jian, Pacak Karel, Rosenblum Jared, Yu Jiong, Zhuang Zhengping, Cao Hongcui, Li Lanjuan

Abstract excerpt

Hypoxia-inducible factor-2α (HIF-2α) is a transcription factor responsible for regulating genes related to angiogenesis and metabolism. This study aims to explore the effect of a previously unreported mutation c.C2473T (p.R825S) in the C-terminal transactivation domain (CTAD) of HIF-2α that we detected in tissue of patients with liver disease. We sequenced available liver and matched blood samples obtained during...

Read the complete abstract on PubMed

Topics

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

Share to Basic Helix-Loop-Helix Transcription Factors
Share to Dyslipidemias

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lipids

Share to Liver Neoplasms

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 37453673
DOI: 10.1016/j.phrs.2023.106851
PMCID: PMC10735172

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 novel HIF2A mutation causes dyslipidemia and promotes hepatic lipid accumulation.PMID 37453673Read ↗

A Somatic Mutation in HIF-2α Affects Glucose and Lipid Metabolism via CD36 and Ceramide.Semantic proximity Read ↗

Expression of AGPAT2, an enzyme involved in the glycerophospholipid/triacylglycerol biosynthesis pathway, is directly regulated by HIF-1 and promotes survival and etoposide resistance of cancer cells under hypoxia.Semantic proximity Read ↗

BAP1 modulates endoplasmic reticulum stress signaling and balances liver homeostasis and malignant progressionSemantic proximity Read ↗

LMNA p.R482W mutation related to FPLD2 alters SREBP1-A type lamin interactions in human fibroblasts and adipose stem cellsSemantic proximity Read ↗

Genomic and Transcriptomic Profile of HNF1A-Mutated Liver Adenomas Highlights Molecular Signature and Potential Therapeutic Implications.Semantic proximity Read ↗

TFR2 p.A75V mutation aggravates liver iron overload in alcoholic liver disease via ERK pathway.Semantic proximity Read ↗

RNA-binding protein A1CF modulates plasma triglyceride levels through posttranscriptional regulation of stress-induced VLDL secretionSemantic proximity Read ↗

Mutant p53-R280K hijacks SREBP1 to promote fatty acid synthesis and breast cancer progression via FASN.Semantic proximity Read ↗

Fatty liver disease protective MTARC1 p.A165T variant reduces the protein stability of MTARC1Semantic proximity Read ↗

Dynamics of Fanconi anemia protein D2 in association with nuclear lipid droplet formationSemantic proximity Read ↗

Targeting Circulating FABP4 Ameliorates Obesity-Associated Hepatic SteatosisSemantic proximity Read ↗

Protocol for generation of humanized HCC mouse model and cancer-driver mutations using CRISPR-Cas9.Semantic proximity Read ↗

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