🧬 CoreAxis Disease ↔ Gene Report

Dilated cardiomyopathy — 2025-11-06


📚 Top 5 Related Genes


📖 Recent Publications (75)

Simultaneous and efficient removal of carbon, nitrogen, and phosphorus by Pseudomonas mendocina MGAD-04 under aerobic conditions: Performance and mechanism.

SDHA · Bioresource technology · 2026-01-01

The strain can utilize various carbon and nitrogen sources and grow under different conditions such as C/N ration, P/N ratio, pH, and initial nitrogen concentration. In this study, Pseudomonas mendocina MGAD-04, a phosphate-accumulating bacterium with the ability to perform heterotrophic nitrification and aerobic denitrification, was isolated from eutrophic lake sediments

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Fitness cost and molecular regulation analysis of thifluzamide resistance in Rhizoctonia solani AG-5 inciting maize banded leaf and sheath blight in Shanxi Province of China.

SDHA · Pesticide biochemistry and physiology · 2025-12-01

This study showed that the resistant mutants exhibited reduced ecological fitness and competitiveness, suggested that the observed fitness costs might partially support the durability of thifluzamide under field conditions, and provided candidate genes for future disease-management strategies.. Compared to Y94 strain, the expression levels of Atg22, Vps45, Ktr1_3, Aha1, DnaJ, Hikeshi, and Stip1 gene were less upregulated (1.81-3.65 folds) in Y94.4R strain under thifluzamide stress

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Reference genes selection for qRT-PCR analysis in Dendroctonus rufipennis.

SDHA · Gene · 2025-11-20

These findings provide a robust set of reference genes for normalizing gene expression in D. The relative expression levels of target gene kr-h1 significantly varied according to normalization with recommended combinations and the least suited reference genes

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Response of nitrogen transformation and microbial community to aromatic compounds stress along heterotrophic nitrification and aerobic denitrification process.

SDHA · Environmental research · 2025-11-15

Regular monitoring results showed that aromatic pollutants slightly inhibited the conversion of NH. However, the characteristics of nitrogen transformation and the response of microbial communities during HNAD process by aromatic pollutants remain unclear

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Mutational disruption of transcription factors binding and regulatory networks in a case of unexplained total fertilization failure.

VEZF1 · Journal of translational medicine · 2025-11-04

Total Fertilization Failure (TFF), characterized by the disruption of any of these processes, occurs in 1-3% of intracytoplasmic sperm injection (ICSI) cycles. The genetic basis of TFF remains largely unexplored

💡 인사이트: VEZF1 participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Metastatic disease in phaeochromocytomas and paragangliomas in various genotypes - A systematic review and meta-analysis.

SDHA · The Journal of clinical endocrinology and metabolism · 2025-11-03

The tumours exhibit a high degree of heritability, and pathogenic genetic variants have been associated with metastases.. Paragangliomas and phaeochromocytomas (PPGLs) are rare neuroendocrine tumours with 10-20% of patients developing metastatic disease

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

DNA Methylation Profiling Separates SDH-Deficient GISTs From KIT-PDGFRA-Driven GISTs and Identifies Predictive Biomarkers for Targeted Therapy.

SDHA · The American journal of surgical pathology · 2025-11-01

Moreover, MGMT promoter methylation, a predictive biomarker of tumor cell sensitivity to alkylating agent chemotherapy, was identified in 6 primary and 5 metastatic tumors. In summary, these findings expand the sarcoma DNA methylation classifier to include SDH-deficient GIST as a new sarcoma DNA methylation entity and identified 2 predictive biomarkers for targeted therapy: methylation of MGMT promoter and gain/low-level amplification of MDM4 .

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Induction Condition Optimization of the M-CSF-Induced Mouse Bone Marrow-Derived Macrophage and the Mechanism Exploration Based on RNA-Seq Analysis.

FHL2 · Immunological investigations · 2025-11-01

It is also known as a cell drug that can be used for cytotherapy of many diseases such as liver fibrosis. Given the high demand for BMDMs in research, this study explored the most cost-effective, high-productivity method and its molecular mechanism for obtaining Macrophage Colony-Stimulating Factor (M-CSF)-induced mouse BMDM.

💡 인사이트: FHL2 participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

The LIM domain protein LmFHL2 is required for nymph-adult metamorphosis of Locusta migratoria.

FHL2 · Pesticide biochemistry and physiology · 2025-11-01

Temporal expression profiling showed that LmFHL2 was primarily expressed during the adult developmental stage. Phylogenetic and expression analyses revealed high conservation of LmFHL2 across insects, with predominant expression in integument and gut tissues

💡 인사이트: FHL2 participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Exploring the molecular cargos associated with extracellular vesicles extracted from bone tissue to identify novel players in osteoblast function.

FHL2 · American journal of physiology. Cell physiology · 2025-11-01

Notably, lEVs contained proteins such as FHL2 and pleiotrophin, along with miRNAs including miR-15b-5p, miR-29a-3p, and miR-128-3p, all of which are involved in early osteogenic signaling pathways such as Hippo, TGF-β, and Wnt. We present evidence that lEVs significantly enhanced ALP activity in ST2 cells, indicating early osteogenic stimulation, whereas sEVs partially promoted matrix mineralization in primary osteoblasts

💡 인사이트: FHL2 participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

The Interaction of PELP1 With FHL2 Contributes to Ectopic Endometrial Stromal Cell Proliferation, Angiogenesis, and Inflammation in Endometriosis.

FHL2 · Cell biology international · 2025-10-30

Proline, glutamic acid, leucine-rich protein 1 (PELP1), implicated in various diseases, has not been studied in EMS. Here, we investigated the functional role and molecular mechanisms of PELP1 in EMS progression

💡 인사이트: FHL2 participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Restoring Mitochondrial Function and Remodeling Gut Microbiota by Low-Molecular-Weight β-Glucan of

SDHA · Journal of agricultural and food chemistry · 2025-10-29

Excessive alcohol consumption poses significant risks for gastrointestinal injury; β-glucans from

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

FHL2 DNA methylation in tooth root surfaces as a tool for age estimation.

FHL2 · Journal of forensic sciences · 2025-10-28

While previous studies have applied methylation assays to the entire tooth, these methods often result in the destruction of the dental structures. This minimally invasive method preserves tooth morphology and may be applicable even in decomposed remains, offering practical advantages in forensic contexts.

💡 인사이트: FHL2 participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

FHL2 enhances ITGB1-mediated ECM remodeling and cellular stiffness to promote radioresistance in non-small cell lung cancer.

FHL2 · Cell death discovery · 2025-10-24

This study underscores the critical role of FHL2/ITGB1 axis in tumor resistance mechanisms and highlights its therapeutic potential in NSCLC treatment.. These findings position FHL2 as a potential biomarker and therapeutic target for overcoming radioresistance in NSCLC, offering a foundation for developing strategies to improve radiotherapy outcomes

💡 인사이트: FHL2 participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Deubiquitinating Enzyme UCHL1 Modulates FHL2 to Block Ferroptosis and Counteract CD8

FHL2 · Immunology · 2025-10-22

Ubiquitin carboxyl-terminal hydrolase L1 (UCHL1), known for its role in protein homeostasis and functionality, is implicated in tumorigenesis. However, its part in the antitumor immunity mediated by CD8

💡 인사이트: FHL2 participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Developing genome typing strategies for the emerging zoonotic pathogen

SDHA · Journal of clinical microbiology · 2025-10-21

The reported human infections with the emerging zoonotic pathogen

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Chemoproteomic Profiling Reveals that Triiodothyronine Covalently Labels Cellular Proteins.

SDHA · ACS chemical biology · 2025-10-14

Thyroid hormone triiodothyronine (

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Frequency and clinical features of germline pathogenic variants in sarcoma: a case-control study.

SDHA · Journal of the National Cancer Institute · 2025-10-13

This study aimed to assess the frequency and distribution of germline pathogenic variants (gPVs) in patients with sarcoma compared to cancer-free controls and identify differences between patients with and without gPVs.. Germline multi-gene panel testing (MGPT) is not yet integrated into standard care for patients with sarcoma

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Structure and expression kinetics of Piscirickettsia salmonis sdhA during infection of Atlantic salmon macrophage-like cells.

SDHA · Fish & shellfish immunology · 2025-10-10

Additionally, for the first time, we demonstrated the early expression of sdhA at both the transcript and protein levels in infected salmon cells, suggesting that SdhA could interfere with the host pathogen eradication mechanisms shortly after infection. Until now, the virulence factors and the mechanisms involved in establishing the fish infection are scarcely understood

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

EpiClock; biological age measurement from blood DNA methylation using a minimal CpG marker set for high-throughput iPlex mass spectrometry assay for screening in drug development and population health.

FHL2 · Experimental gerontology · 2025-10-09

Measuring biological aging-the underlying rate of physiological decline-has become increasingly important in predicting disease risk, guiding personalized health strategies, and advancing age-targeted therapeutics. Unlike chronological age, biological age provides a more accurate reflection of an individual's functional health and longevity potential

💡 인사이트: FHL2 participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Effects of different land use on functional genes of soil microbial carbon and phosphorus cycles in the desert steppe zone of the Loess Plateau.

SDHA · BMC microbiology · 2025-10-02

Lily soil exhibited significantly higher abundance of acr genes (involved in the hydroxypropionate-hydroxybutylate cycle) and phnE (an ATP-binding cassette transporter) than natural grassland and alfalfa soils (p < 0.05). We aimed to evaluate how land use influences soil microbial communities and functional genes related to carbon (C) and phosphorus (P) cycling

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Visfatin facilitates esophageal cancer migration by suppressing miR‑3613‑5p expression and promoting VEZF1/VCAN production.

VEZF1 · Oncology reports · 2025-10-01

However, the mechanisms by which visfatin regulates motility in esophageal cancer remain unclear. Further cell migration, invasion, qPCR and western blot assay shows that visfatin promoted esophageal cancer cell migration by decreasing miR‑3613‑5p expression and subsequently increasing vascular endothelial zinc finger 1/versican production

💡 인사이트: VEZF1 participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Epidemiology of Renal Cancer: Incidence, Mortality, Survival, Genetic Predisposition, and Risk Factors.

SDHA · European urology · 2025-10-01

This review aims to describe global epidemiology of RC examining its incidence, mortality, survival, genetic predisposition, and risk factors.. Renal cancer (RC) is a common malignancy

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Correspondence on "Good survival outcome of metastatic SDH-deficient gastrointestinal stromal tumors harboring SDHA mutations" by Pantaleo et al.

SDHA · Genetics in medicine : official journal of the American College of Medical Genetics · 2025-10-01

(요약 없음)

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Succinate dehydrogenase-related pheochromocytoma and paraganglioma (SDHx-PPGL): clinical and genetic insights from an Indian study.

SDHA · Endocrine connections · 2025-10-01

We describe the clinical and genetic characteristics of SDHx PPGL from a single center in western India.. Data on succinate dehydrogenase-related pheochromocytoma and paraganglioma (SDHx PPGL) in India are limited

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Germline Multigene Panel Testing in Japanese Patients with Pheochromocytoma and Paraganglioma: Technical Feasibility and Clinical Utility.

SDHA · Genetic testing and molecular biomarkers · 2025-10-01

(요약 없음)

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Empagliflozin reduces left ventricular mass increase and improves cardiomyocyte hypertrophy after 5/6 nephrectomy.

FHL2 · Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie · 2025-10-01

snRNA-seq revealed no changes in major cardiac cell populations but identified differential expression of cardiomyocyte development genes, including Fhl2, Tbx20, and Angpt1. qRT-PCR data for Fhl2 and Tbx20 aligned with the snRNA-seq data, showing that Empagliflozin increased Fhl2 expression and decreased Tbx20 expression

💡 인사이트: FHL2 participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Neonatal case of congenital dilated cardiomyopathy, cholestatic liver injury, and hyperferritinemia with

FHL2 · Cardiology in the young · 2025-10-01

Trio-exome sequencing identified as de novo. A male infant with fetal hydrops was diagnosed with congenital dilated cardiomyopathy and died at 2 months despite intensive treatment

💡 인사이트: FHL2 participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.

SDHA · European journal of endocrinology · 2025-09-30

To estimate the global prevalence of genetic carriers of pheochromocytoma-paraganglioma syndromes (PPGLs) in a large multiethnic genomic database.

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Zebrafish model of palmitic acid induced MAFLD recapitulates pathways conserved in mice and humans.

SDHA · Scientific reports · 2025-09-29

Metabolic Dysfunction-Associated Fatty Liver Disease (MAFLD) is a major global health issue, affecting millions, yet its underlying molecular mechanisms remain poorly understood. Additionally, we observe increased expression of genes associated with endoplasmic reticulum stress, such as atf6, xbp1, gadd45a, and ddit3, along with activation of the mitochondrial unfolded protein response and inflammatory pathways, as indicated by elevated levels of hspd1, hspa9, clpp, lonp1, il1β and il8

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Resistance risk assessment of the novel SDHI fungicide fenopyramid in

SDHA · Plant disease · 2025-09-24

Sensitivity detection and resistance risk assessment should be performed promptly to track the emergence of fenopyramid resistance and establish resistance management strategies. In this study, the sensitivity of 78

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

HIF1A regulates follicular atresia through O-GlcNAcylation-mediated VEZF1/ET-1/FOXO1/BAX signaling in porcine granulosa cells.

VEZF1 · Journal of animal science and biotechnology · 2025-09-20

To date, the role and mechanism of hypoxia-inducible factor 1 subunit alpha (HIF1A)-mediated hypoxic responses in follicular atresia are unclear. This study aimed to investigate whether and how HIF1A regulates follicular atresia via the modulation of O-linked N-acetylglucosamine (O-GlcNAc) protein modification (O-GlcNAcylation).

💡 인사이트: VEZF1 participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Screening and Stability Analysis of Reference Genes in

SDHA · Genes · 2025-09-09

(요약 없음)

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

A Titin Missense Variant Causes Atrial Fibrillation.

FHL2 · medRxiv : the preprint server for health sciences · 2025-09-09

Although ion channels were among the first AF candidate genes identified, rare loss-of-function variants in structural genes, such as TTN, have also been implicated in AF pathogenesis, partly through the development of atrial myopathy; however, the underlying mechanisms are poorly understood. Rare and common genetic variants contribute to the risk of atrial fibrillation (AF)

💡 인사이트: FHL2 participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Identification of potential biomarkers of triton WR-1339 induced hyperlipidemia: NMR-based plasma metabolomics approach and gene expression analysis.

SDHA · Metabolomics : Official journal of the Metabolomic Society · 2025-09-04

Triton WR-1339-induced hyperlipidemia model is one of the most commonly used acute models for hyperlipidemia induction in research. Hyperlipidemia is a complex lipid metabolism disorder defined as an abnormal increase in circulating levels of one or more plasma lipids and lipoproteins

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Itaconate Attenuates Homocysteine-induced Nod-like Receptor Family Protein 3 Inflammasome-mediated Pyroptosis in Hippocampal Neurons: Involvement of Inhibiting Succinate Dehydrogenase Complex Subunit A Level.

SDHA · Journal of physiological investigation · 2025-09-01

This study will be based on nod-like receptor family protein 3 (NLRP3)-mediated pyroptosis and succinate dehydrogenase (SDH) to study the mechanisms underlying the neurotoxicity of Hcy in HT-22 cells, a mouse hippocampal neuronal cell line, and the protective role and mechanisms of itaconate against Hcy-associated neurotoxicity. These findings highlight that NLRP3 inflammasome-mediated pyroptosis and the activation of SDHA play crucial roles in Hcy-induced neuronal injury and that itaconate protects against Hcy-induced NLRP3 inflammasome-mediated pyroptosis via suppressing SDHA expression.

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

The Role of HINT3 in Myocardial Ischemia-Reperfusion Injury in Male Mice: Mechanisms Involving SDHA and its Acetylation.

SDHA · Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025-09-01

These findings highlight the HINT3-HDAC1-SDHA axis as a key pathway in mitochondrial regulation, offering new insights and therapeutic targets for myocardial reperfusion injury.. Mechanistically, HINT3 interacts with succinate dehydrogenase subunit A (SDHA), suppresses HDAC1 expression, and prevents SDHA deacetylation at K335, reducing SDH activity and mitochondrial ROS production

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Succinate Dehydrogenase Subunit A (SDHA) Mediated Microglia Extracellular Traps Formation Participating in Cerebral Ischemic Reperfusion Injury.

SDHA · Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025-09-01

This study aims to investigate the mechanism of succinate dehydrogenase (SDH)-mediated succinate oxidation in microglia extracellular traps (MiETs) formation and neuronal injury after cerebra I/R injury. Microglia switches toward glycolysis with enhanced SDH activity and upregulated expression of SDH subunit A (SDHA) during MiETosis

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Germline Cancer Susceptibility Variants in Patients With Uveal Melanoma.

SDHA · Pigment cell & melanoma research · 2025-09-01

We studied with exome sequencing blood samples from 106 patients with UM and higher-than-average risk of cancer (UM ≤ 45 years of age, bilateral or familial UM, or personal history of non-ocular cancer) and no P/LP variants in BAP1. This suggests a role for co-occurring pathogenic variants and potentially multilocus inherited neoplasia allele syndrome (MINAS) in UM predisposition

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

A new robust AI/ML based model for accurate forensic age estimation using DNA methylation markers.

FHL2 · Forensic science, medicine, and pathology · 2025-09-01

To ensure that the predictive accuracy is intrinsic to the selected CpG sites and not model dependent, the identified CpG sites were passed to three different Neural network models. The present study identified 12 CpG sites from a collection of 476,366 CpG sites based on the following criteria: (a) CpG sites were retained if the Pearson correlation coefficient between the methylation values and the chronological age of the individual is greater than 0.85, and (b) if the mutual correlation coefficient between a pair of selected CpG sites is greater than 0.15, only one of them is retained

💡 인사이트: FHL2 participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Epigenetic Age Signatures in Postmortem Rib Samples.

FHL2 · Electrophoresis · 2025-09-01

This study focuses on postmortem rib samples-a common forensic specimen-to develop a DNA methylation-based age prediction model specific to ribs. The rib-derived age prediction model exhibited an R

💡 인사이트: FHL2 participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Molecular dynamics simulations of perforin mutations associated with familial hemophagocytic lymphohistiocytosis type 2 among Indian patients.

FHL2 · International journal of biological macromolecules · 2025-09-01

Cytotoxic lymphocyte pore-forming protein termed perforin-1 (PFP) produced by NK and CD8

💡 인사이트: FHL2 participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

lmod2a mutations affect F-actin and SRF pathway leading to cardiac dysfunction in zebrafish.

LMOD2 · Developmental biology · 2025-09-01

This study generated a homozygous knockout zebrafish line (lmod2a. Leiomodin 2 (LMOD2), a critical pathogenic gene associated with human dilated cardiomyopathy (DCM), is essential in regulating thin filament length during cardiac development

💡 인사이트: LMOD2 participates in biological processes such as GO:0005524, GO:0033014, GO:0140359. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

GFAT1 promotes the progression of hepatocellular carcinoma via enhancing the O-GlcNAcylation of VEZF1.

VEZF1 · Cell death & disease · 2025-08-26

This intervention effectively reduced TNS1 expression and suppressed the progression of HCC in a mouse model. Glutamine-fructose-6-phosphate amidotransferase 1 (GFAT1), the first rate-limiting enzyme in the hexosamine biosynthetic pathway (HBP), is a pivotal regulator of HBP flux

💡 인사이트: VEZF1 participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Succinate Dehydrogenase A-Deficient Renal Cell Carcinoma with Predominantly Papillary Structures: A Case Report and Review of the Literature.

SDHA · International journal of surgical pathology · 2025-08-19

Succinate dehydrogenase (

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Complex II assembly drives metabolic adaptation to OXPHOS dysfunction.

SDHA · Science advances · 2025-08-15

We identified the action of SDHAF2 protein, a complex II assembly factor, as critical for metabolic adaptation during complex III dysfunction in HEK293T cells. Thus, our study reveals how complex II assembly controls a balance between dynamics of TCA cycle directionality, protection from Q-pool stress, and an ability to use ROS-meditated signaling to overcome acute OXPHOS dysfunction in cells reliant on mitochondrial respiration.

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Update on Tumor Surveillance for Children with Hereditary Pheochromocytoma/Paraganglioma Syndromes.

SDHA · Clinical cancer research : an official journal of the American Association for Cancer Research · 2025-08-14

Hereditary pheochromocytoma/paraganglioma syndromes (HPPS) are a collection of conditions caused by variants in genes producing subunits of the succinate dehydrogenase (SDH) complex or related proteins. We then detail our updated consensus pediatric-focused tumor surveillance recommendations from the 2023 American Association for Cancer Research Childhood Cancer Predisposition Workshop.

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Dynamics of soil organic carbon fractions, microbial communities, and carbon cycle functional genes during vegetation restoration in zinc smelting slag sites.

SDHA · Journal of environmental management · 2025-08-01

Partial least squares pathway modeling (PLS-PM) revealed that restoration years directly influenced SOC, enzyme activity, and microbial communities, while indirectly affecting carbon cycling genes through changes in microbial communities. However, the dynamics of SOC fractions and the underlying microbial mechanisms during vegetation restoration remain poorly understood

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Enhancing gene expression studies in bovine embryos fertilized in vitro: Identifying stable reference genes across blastocysts with different developmental speeds.

SDHA · The Journal of reproduction and development · 2025-08-01

To emphasize the critical importance of selecting stable RGs, we analyzed the expression of key developmental markers including those of the inner cell mass (ICM; OCT4, SOX2) and trophectoderm (TE; CDX2, GATA3, IFNτ), using various RGs for normalization. Normalization with unstable RGs produced inconsistent TE marker expression patterns (CDX2, GATA3) and overestimated (IFNτ) results across groups, compared with the results of ACTB

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Silybin inhibits succinate production and secretion in hepatocytes to reverse liver fibrosis.

SDHA · Archives of pharmacal research · 2025-08-01

Silybin restored mitochondrial membrane phospholipids, enhanced CRLS1 expression, facilitated the assembly of SDHA and SDHB, and rejuvenated SDH activity. Silybin has been used as a therapeutic agent in treating liver fibrosis worldwide with unclear mechanisms

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Sirtuin1 mitigation of calcium oxalate nephropathy via enhancing itaconate abundance through reduction of histone trimethylation.

SDHA · Clinical and translational medicine · 2025-08-01

Clinical therapeutic approaches to prevent and treat renal injury in patients with acute kidney injury (AKI) and chronic kidney disease (CKD) induced by calcium oxalate (CaOx) are limited. As a pivotal deacetylase, Sirtuin1 (Sirt1) exhibits notably anti-inflammatory effects, but its metabolic mechanism in regulating CaOx nephropathy remains unexplored.

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

LMOD2 interaction with ACTC1 regulates myogenic differentiation.

LMOD2 · BMC genomics · 2025-07-31

Skeletal muscle development and regeneration consist of a series of carefully regulated changes in gene expression. But the physiological functions and mechanisms of LMOD2 on skeletal muscle development are unknown.

💡 인사이트: LMOD2 participates in biological processes such as GO:0005524, GO:0033014, GO:0140359. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Are head and neck versus abdominal paragangliomas driven by different single nucleotide events?

SDHA · Journal of applied genetics · 2025-07-29

The aim of this study was to determine whether the development of PGLs at both locations is associated with specific variants of genes with proven relevance for the formation of these tumours. Given this, it seems important to consider variants from non-coding regions in genetic analyses.

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Integrated Behavioral and Proteomic Characterization of MPP

SDHA · International journal of molecular sciences · 2025-07-15

Zebrafish (

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Selection of Stable Reference Genes for Gene Expression Studies in Activated and Non-Activated PBMCs Under Normoxic and Hypoxic Conditions.

SDHA · International journal of molecular sciences · 2025-07-15

In our study, we assessed the expression stability of commonly used reference genes (. Immunotherapy has emerged as a key modality in cancer treatment, yet its effectiveness varies significantly among patients, often due to the metabolic stress imposed by the tumor microenvironment

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Evaluation of stable reference genes for RT-qPCR analysis in Antheraea assamensis (Lepidoptera: Saturniidae) during pathogenic infections.

SDHA · Molecular biology reports · 2025-07-02

Given that reference gene expression may vary with tissue type, developmental stage, and infection status, rigorous validation of stable reference genes is essential for accurate normalization.. Gene expression profiling is vital for deciphering immune responses in insects, especially for genes involved in pathogen defense, stress adaptation, and immune regulation

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Uterine Myxoid Mesenchymal Tumor With a Novel SS18::VEZF1 Gene Fusion, Lacking Worrisome Histological Features.

VEZF1 · Genes, chromosomes & cancer · 2025-07-01

We report a uterine myxoid mesenchymal tumor with a novel SS18::VEZF1 gene fusion. Tumor cells were frequently located around blood vessels and exhibited amphophilic or eosinophilic cytoplasm and elongated or ovoid-shaped nuclei with coarsely clumped chromatin

💡 인사이트: VEZF1 participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Metabolic Effects of Succinate Dehydrogenase Loss in Cancer.

SDHA · Journal of cellular physiology · 2025-07-01

Succinate dehydrogenase (SDH) is both Complex II in the electron transport chain (ETC) and a key metabolic enzyme in the tricarboxylic acid cycle. SDH is a heterotetrameric enzyme consisting of four subunits SDHA, SDHB, SDHC, and SDHD, all encoded in the nuclear genome

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

FHL2 facilitates LUSC growth and therapy resistance through PI3K/AKT/mTOR activation.

FHL2 · The Journal of biological chemistry · 2025-07-01

Mechanistically, FHL2 interacts with c-Jun and suppresses its ubiquitination, thereby stabilizing the c-Jun protein, upregulating PDK1 expression, and subsequently activating the PAM signaling pathway. Our results demonstrate that FHL2 promotes LUSC progression and induces afatinib resistance by regulating the PAM signaling pathway

💡 인사이트: FHL2 participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Clinical and prognostic significance of whole blood Epstein-Barr virus DNA in patients with primary hemophagocytic lymphohistiocytosis: a retrospective observational study from China.

FHL2 · Annals of hematology · 2025-07-01

Hemophagocytic lymphohistiocytosis (HLH) has been described as a threshold disease depending on triggering factors and the residual cytotoxic capacity of NK cells. We retrospectively analyzed the clinical data of 95 patients with primary HLH treated between January 2013 and January 2024

💡 인사이트: FHL2 participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants.

FHL2 · Blood · 2025-06-19

Specifically, we evaluated the clinical significance of the frequent PRF1 A91V variant, if present in trans with a predicted loss-of-function (pLOF) PRF1 variant, defined as "disease mutation" listed in the Human Gene Mutation Database. Premature stop pLOF alleles appeared more penetrant than missense variants, but functional data including perforin expression or cytotoxicity failed to predict disease manifestation

💡 인사이트: FHL2 participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Clinicopathological and Immunogenetic Characterization in 8 Patients with Familial Hemophagocytic Lymphohistiocytosis Type 2: A Study from North India with Literature Review.

FHL2 · Journal of clinical immunology · 2025-06-19

Five patients had homozygous exon 3 disease-causing variants, two had homozygous exon 2 disease-causing variants, and one had compound heterozygous disease-causing variants in exon 2 and exon 3. A disease-causing variant was identified in the PRF1 gene in all eight patients, comprising missense (n = 6), null (n = 1), and in-frame deletion (n = 1)

💡 인사이트: FHL2 participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Transcriptomic analysis to identify differentially expressed genes of abdominal fat (AF) and breast muscle (BM) tissues based on RNA-seq in Zhijin white goose.

SDHA · Tropical animal health and production · 2025-06-17

The differential gene expression profiles in the AF and BM tissues were conducted by using RNA-seq. The citrate cycle (TCA cycle), pentose phosphate pathway, and glycolysis/gluconeogenesis were identified as KEGG pathways with significant enrichment

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Correction: Effects of the FHL2 gene on the development of subcutaneous and intramuscular adipocytes in goats.

FHL2 · BMC genomics · 2025-06-17

(요약 없음)

💡 인사이트: FHL2 participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Antarctic ice-free terrestrial microbial functional redundancy in core ecological functions and microhabitat-specific microbial taxa and adaptive strategy.

SDHA · Environmental microbiome · 2025-06-13

To address these questions, we employed high-throughput 16 S rRNA gene and ITS sequencing in combination with GeoChip-based functional gene profiling to assess the structure and functional potential of microbial communities across moss, lichen and soil microhabitats in Antarctic ice-free terrestrial ecosystem.. These ecosystems encompass distinct microhabitats such as mosses, lichens, and soils, each offering unique ecological niches

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

The Identification of a Key Regulator of Mitochondrial Metabolism, the LRPPRC Protein, as a Novel Therapeutic Target in SDHA-Overexpressing Ovarian Tumors.

SDHA · Cancers · 2025-06-11

(요약 없음)

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Association of Model-Predicted Epigenetic Age and Female Infertility.

FHL2 · Epigenomes · 2025-06-05

To date, there are no precise clinical and laboratory methods to accurately predict the onset of fertility decline in women, with chronological age being the ultimate predictor. This has led to increased interest in developing methods to determine biological age, as it provides a more accurate understanding of individual age-related physiological changes.

💡 인사이트: FHL2 participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

The Bioactive Ingredient Quercetin in Guilu-Erxian-Glue Ameliorates Oligoasthenospermia in Mice via PKA/CREB Pathway-Dependent Sirt1 Activation and p53 Deacetylation.

SDHA · Molecular reproduction and development · 2025-06-01

This study identified GLEXG's bioactive ingredients and explored its therapeutic mechanism. Using network pharmacology and liquid chromatography-mass spectrometry, quercetin was predicted and validated as a key component of GLEXG

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Succinate Dehydrogenase Regulates Homeostasis and Metabolic Integrity of Alveolar Macrophages.

SDHA · Immune network · 2025-06-01

Although the distinct functional roles of these macrophage populations are well recognized, the specific metabolic pathways that support their functions are not fully understood. Lung tissue-resident macrophages, including alveolar macrophages (AMs) and interstitial macrophages (IMs), are pivotal in maintaining both immune defense and tissue homeostasis

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Unveiling the geroprotective potential of Monarda didyma L.: insights from in vitro studies and a randomized clinical trial on slowing biological aging and improving quality of life.

FHL2 · GeroScience · 2025-06-01

Aging is driven by fundamental mechanisms like oxidative stress, telomere shortening and changes in DNA methylation, which together prepare the ground for age-related diseases. Botanical extracts, rich in bioactive phytoconstituents, represent a promising resource for developing therapies that target these mechanisms to promote healthy aging

💡 인사이트: FHL2 participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Modeling a mesenchymal cell state by bioprinting for the molecular analysis of dormancy in melanoma.

FHL2 · Materials today. Bio · 2025-06-01

This is often due to the development of therapy resistance or tumor dormancy, eventually resulting in tumor relapse by yet undefined mechanisms. by revealing significant downregulation of genes associated with replication and cell cycle progression in this setting

💡 인사이트: FHL2 participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Calcaratarin D, a labdane diterpenoid, attenuates bleomycin-induced pulmonary fibrosis by blocking Wnt/β-catenin signaling pathway.

FHL2 · Pharmacological research · 2025-06-01

Our results imply that CalD could be a novel antifibrotic agent for IPF, acting through blockade of the Wnt/β-catenin signaling pathway.. In normal human lung fibroblasts, CalD inhibited TGF-β1-stimulated pro-fibrotic markers and Wnt/β-catenin signaling pathway by reducing Wnt10A production, upregulating endogenous Wnt antagonist DKK1 level, dephosphorylating Wnt ligand co-receptor LRP6, and preventing β-catenin and YAP/TAZ nuclear translocation

💡 인사이트: FHL2 participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

CEFIP deficiency in mice enhances glucose tolerance despite compromised muscle function.

FHL2 · American journal of physiology. Endocrinology and metabolism · 2025-06-01

Mechanotransduction in skeletal muscles is crucial for promoting global physical performance by coordinating muscular strength and metabolic properties, yet the underlying mechanisms and key regulatory molecules remain poorly understood. We identified cardiac-enriched FHL2-interacting protein (CEFIP), a

💡 인사이트: FHL2 participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Cost-effective optimisation and validation of the VISAGE enhanced tool assay on the Illumina NovaSeq 6000 platform.

FHL2 · Forensic science international. Genetics · 2025-06-01

Unfortunately, the existing models are neither publicly accessible nor permitted for use in forensic casework. To partially address this need, the VISAGE Consortium introduced the VISAGE enhanced tool assay, a multi-tissue assay that targets eight age-associated genes (ELOVL2, EDARADD, ASPA, FHL2, MIR29B2CHG, KLF14, TRIM59, and PDE4C)

💡 인사이트: FHL2 participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문

Actinobacteria Emerge as Novel Dominant Soil Bacterial Taxa in Long-Term Post-Fire Recovery of Taiga Forests.

SDHA · Microorganisms · 2025-05-29

This study investigated the community structure and diversity of soil bacteria during long-term recovery after forest fires in the cold temperate zone, focusing on soils from the 2000 fires in Daxing'anling. The long-term post-fire recovery phase is a critical stage for forest ecosystems to progress toward regeneration and mature succession

💡 인사이트: SDHA participates in biological processes such as GO:0000166, GO:0005524, GO:0016740. The specific molecular mechanism has not been fully elucidated.

PubMed 원문