Ask about this productRelated genes to: LMF1 antibody
- Gene:
- LMF1 NIH gene
- Name:
- lipase maturation factor 1
- Previous symbol:
- C16orf26, TMEM112
- Synonyms:
- FLJ12681, JFP11, FLJ22302, TMEM112A
- Chromosome:
- 16p13.3
- Locus Type:
- gene with protein product
- Date approved:
- 2000-12-21
- Date modifiied:
- 2014-11-19
Related products to: LMF1 antibody
Related articles to: LMF1 antibody
- Familial chylomicronemia syndrome (FCS) is a severe, life-threatening genetic disorder resulting from pathogenic variants in genes involved in lipoprotein lipase (LPL) function, including LPL, APOC2, APOA5, GPIHBP1, and LMF1. - Source: PubMed
Publication date: 2026/04/02
Aboheimed Ghada IAlRasheed Maha MAlfattani Areej AAlhusayn Khalid OAlali Shog MAlkhbiah Reema AColak DilekAlashwal AbdullahKaya Namik - Lung cancer remains a leading cause of cancer-related mortality, largely due to its complex immune microenvironment and molecular heterogeneity. To address gaps in understanding tumor heterogeneity and the role of long non-coding RNA (lncRNA) macromolecules, we conducted an integrative single-cell RNA sequencing (scRNA-seq) analysis of non-small cell lung cancer (NSCLC). Unsupervised clustering identified distinct immune and malignant cell populations. Differential expression analysis identified robust cell-type markers, including novel lncRNA macromolecules, AC005842.1, AC009041.2, and AC007240.1 enriched in specific tumor and immune subsets. Functional enrichment linked these lncRNAs to key cancer pathways, including epithelial-mesenchymal transition (EMT), hypoxia, and immune modulation. Targeted experimental validation using quantitative real-time PCR (qRT-PCR) in NSCLC cell lines confirmed significant upregulation of the identified lncRNAs and supported activation of EMT-associated molecular programs. Pseudotime trajectory modeling uncovered dynamic activation of hallmark programs, notably TNFA-NFκB and IL2-STAT5 signaling, suggesting progressive immune suppression and metabolic reprogramming during tumor evolution. We further identified novel transcription factor-pathway associations, including NR5A1-OXPHOS (oxidative phosphorylation) and FOXA2-mTORC1, pointing to uncharacterized axes of macromolecular regulation. To ensure reproducibility and accessibility, we developed lncScape, a modular, open-source Shiny application for integrative lncRNA analysis in single-cell datasets. lncScape implements a pipeline for clustering, lncRNA detection, pseudotime modeling, and GSVA-based pathway enrichment. It also introduces two novel scoring strategies the lncRNA Dynamics Score (LDS) and TF-lncRNA Dynamics (TLD) to prioritize dynamic regulatory lncRNAs based on expression patterns and transcription factor associations. Our findings expand understanding of lncRNA macromolecules in lung cancer and provide a practical platform for lncRNA-centric research. - Source: PubMed
Publication date: 2026/04/15
Haider AliDin Rahman UdHabib BushraLi Chunhua - Although genetic factors strongly influence lipid metabolism, genetic dyslipidemias refer to specific monogenic defects that significantly alter the function of proteins involved in lipid metabolism. Familial hypercholesterolemia results from mutations in the genes coding for LDL receptor, apolipoprotein B100 (apoB100), PCSK9, or LDLRAP1. The rare homozygous form is severe, with extravascular lipid deposits at an early age and a high incidence of coronary events in childhood, in the absence of early diagnosis. The heterozygous form is more frequent and characterized by elevated plasma LDL cholesterol levels (>190 mg/dL in adults) and a very high risk of premature coronary artery disease (usually before the age of 50 years). Familial chylomicronemia syndrome (FCS) is a major form of genetic hypertriglyceridemia caused by mutations in genes encoding lipoprotein lipase or one of its cofactors (apoC-II, apoA-V, GPIHBP1, or LMF1). Patients with FCS exhibit markedly elevated plasma triglyceride levels (>10 mmol/L) and are at high risk for acute pancreatitis. Congenital familial partial lipodystrophy and glycogen storage diseases are two other forms of genetic hypertriglyceridemia. In addition, other rare genetic dyslipidemias have been described in humans, including familial dysbetalipoproteinemia, abetalipoproteinemia, familial hypobetalipoproteinemia, familial combined hypolipidemia, sitosterolemia, and hypoalphalipoproteinemias. - Source: PubMed
Publication date: 2026/03/20
Vergès Bruno - Heart failure (HF) is a leading global cause of morbidity and mortality, yet the regulatory molecular mechanisms that link genetic variation to cardiac dysfunction remain elusive. To bridge this gap, we created the Trans-Omics for Precision Medicine in Congestive Heart Failure (TOPCHeF) resource, a multi-omics dataset comprising >700 human left-ventricular tissue samples, including dilated cardiomyopathy (DCM), ischemic cardiomyopathy (ICM), and non-failing controls, with paired whole-genome and RNA sequencing. By mapping expression- (eQTL) and splicing- (sQTL) quantitative trait loci directly in diseased human hearts, we identified over 10,000 transcripts with significant eQTL and 8,600 isoforms with significant sQTL, across both coding and non-coding genes, many of which overlap loci previously associated with HF and emerging novel gene associations. Single-locus colocalization with a largescale DCM genome-wide association study revealed 21 expression and 17 splicing-QTL that share causal variants with disease risk. These include known Mendelian cardiomyopathy risk genes such as and , and novel regulatory candidates like , , , , , and . Several loci also showed coordinated effects on both gene expression and RNA splicing, implicating calcium signaling, cytoskeletal organization, and metabolic pathways in HF pathogenesis. Together, these results help define the regulatory landscape of the failing human heart and establish TOPCHeF as a foundational resource for connecting genetic variation to transcriptional and splicing molecular mechanisms in HF research. - Source: PubMed
Publication date: 2026/01/13
Murray Connor SYang ChaojieChen Suet NeeGraw SharonKarimpour-Fard AnisCleveland JosephGao ShanshanIm Hae KyungWheeler Heather EAmbardekar Amrut VHoffman Jordan R HGabriel StaceyGupta NamrataArdlie KristinRotter Jerome ITaylor Kent DRich Stephen SMestroni LuisaManichaikul AniTaylor Matthew R G - Numerous studies have identified a close association between visceral adipose tissue mass (VAT) and neuropsychiatric disorders (NPDs). Both VAT and NPDs exhibit high heritability, yet their shared genetic architecture remains unclear. - Source: PubMed
Publication date: 2026/02/02
Xia JiangweiLi JiajianChen SiqiChang TianpengQian YuWu OuWu YangZhao YinanHao JunweiZhong Lianmei