NEFM _ NF_M
- Known as:
- NEFM _ NF_M
- Catalog number:
- Y214372
- Product Quantity:
- 200ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- NEFM _ NF_M
Ask about this productRelated genes to: NEFM _ NF_M
- Gene:
- NEFM NIH gene
- Name:
- neurofilament medium
- Previous symbol:
- NEF3
- Synonyms:
- NFM, NF-M
- Chromosome:
- 8p21.2
- Locus Type:
- gene with protein product
- Date approved:
- 1989-10-18
- Date modifiied:
- 2016-12-07
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- Pure cerebellar ataxia is a neurological disorder characterised by isolated cerebellar dysfunction, arising from either developmental anomalies or progressive degenerative processes. Precise genetic diagnosis remains challenging. - Source: PubMed
Maltese Paolo EnricoBonetti GabrieleManara ElenaTanzi BenedettaBernini AndreaBerryman Mark ATanda SoichiNielsen CorinneCasagrande SilviaFerrero AmandaStano SalvatoreZuccarino RiccardoBarp AndreaChiurazzi PietroBertelli Matteo - The gene, a recently identified regulator of embryonic development and stem cell pluripotency, is essential for embryonic survival, as its homozygous knockout () leads to lethality in mice at approximately embryonic day 12.5 (E12.5). To elucidate the underlying lethal mechanism, an integrated approach combining morphological observation, multi-stage transcriptomic analysis, and functional validation experiments was employed to systematically investigate the developmental disorders caused by deficiency. Morphological observation showed that / embryos exhibited significant abnormalities at developmental stages E9.0, E9.5, E10.0, E10.5, and E11.0, including shortened body axis, defective neural tube closure, aberrant somite differentiation, and cardiovascular malformations, accompanied by overall developmental delay. At the molecular level, through RNA sequencing and qRT-PCR validation revealed that deficiency not only suppressed the expression of genes critical for somitogenesis (, ), neurodevelopment (, ), and the hematopoietic system (, ), but also aberrantly activated genes associated with apoptosis (, ) and lipid metabolism (, ). TUNEL staining showed that the level of apoptosis was significantly increased in embryos. Meanwhile, immunofluorescence detection of Hif-1α indicated that the hypoxic stress response was aberrantly activated. Furthermore, the widespread dysregulation of genes involved in thyroid hormone transport (), DNA damage stress (), and lipid metabolism (, ) collectively exacerbated the developmental imbalance, ultimately leading to embryonic death. A cross-species analysis demonstrated that knockdown in human embryonic stem cells (hESCs) significantly suppressed the expression of core angiogenic genes (, and ), a finding consistent with public database analyses indicating a strong association between and the hypoxic response. In conclusion, this study elucidates that functions as a regulatory gene that maintains embryonic homeostasis by orchestrating multiple key developmental processes, including somitogenesis, neural differentiation, angiogenesis, and the hypoxic stress response. This discovery not only deepens the understanding of the role of in embryonic development but also provides a new perspective for deciphering the pathogenesis of related hereditary diseases. - Source: PubMed
Deng Ya-XinDing Bao-JunLi Hong-ChunChen SongZhang YingZhou BoZhang Zhen - Cognitive impairment is a recognised feature of neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS). Despite advances in understanding cognitive impairment in ALS, no fluid biomarkers reliably predict these changes. Prior research in Alzheimer disease (AD) has demonstrated that CSF protein ratios enhance biomarker accuracy by mitigating inter-individual variability, improving diagnostic precision. In AD, ratios involving synaptic markers have shown stronger associations with cognitive outcomes than single proteins, motivating evaluation of a similar ratio-based approach in ALS. - Source: PubMed
Publication date: 2026/01/31
Öijerstedt LinnMravinacová SáraOlofsson JennieAzizi LouisaBergström SofiaYazdani SolmazDe Vita NinaAksoylu Inci SFoucher JulietteJuto AlexanderKläppe UlfNilsson PeterMånberg AnnaIngre Caroline - This study employed RNA sequencing and bioinformatics to identify differentially expressed genes (DEGs) and signaling pathways in thyroid eye disease (TED). Orbital adipose tissues from TED patients and normal controls were sequenced, followed by DEG screening. Primary cultured orbital fibroblasts were used to validate highly expressed DEGs via qRT-PCR. We observed significant upregulation of genes involved in adipogenesis (e.g., ACSL5), muscle fiber formation/contraction (e.g., TNNT1), and nerve injury (e.g., NEFM) in TED. qRT-PCR confirmed elevated expression of IL-6, COL1A1, PPARγ, NEFM, ACSL5, and TNNT1 in TED fibroblasts. Enrichment analysis revealed 20 significantly altered biological processes, including triglyceride biosynthesis and muscle filament sliding. Upregulated DEGs were primarily associated with the PPAR, AMPK, and adipocytokine signaling pathways. Our findings identify ACSL5, TNNT1, and NEFM as key mediators in TED pathogenesis, contributing to adipogenesis, muscle thickening, and nerve injury, respectively. The PPARγ-ACSL5 pathway is implicated in orbital adipogenesis, suggesting potential therapeutic targets for TED. - Source: PubMed
Publication date: 2025/12/08
Hua WumeiJi XiaolanChen JingqiaoJiang ZiyuanChen HonglinCui YuhuiLi MinyanLu XingyuWang XuefengZhang Ji - Periodontitis, a prevalent chronic inflammatory disease, remains a global health challenge with conventional diagnostic methods hindered by subjectivity and low sensitivity. This study aimed to develop a machine learning (ML)-based diagnostic framework using transcriptomic data to enhance diagnostic accuracy and efficiency. - Source: PubMed
Publication date: 2025/11/19
Cheng Ya'nanYang HaiqiongMo HuiXu Pu