Background/aims: Engrailed-2 is a homeobox transcription factor that is expressed in mesencephalic dopaminergic neurons from development to adulthood and probably plays an important role in the survival of these neurons.
Methods: Here, we investigated six single-nucleotide polymorphisms (SNPs) in the promoter region (rs1345514) or transcribed part (rs3735653, rs6460013, rs1861972, rs2361689, and rs3808330) of the engrailed-2 gene, respectively, in 103 discordant pairs with young-onset Parkinson's disease (YOPD).
Results: The nominally significant p values in the single-marker and haplotype-based association analysis were suggestive of an association of SNP rs1345514 with YOPD.
Conclusion: Altogether, our data suggest the possibility that variations of the engrailed-2 gene are implicated in the development of YOPD, although our results with respect to SNP rs1345514 should be verified in an independent sample.
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http://dx.doi.org/10.1159/000207796 | DOI Listing |
J Neuroinflammation
November 2024
Institute of Anatomy, Anatomy and Cell Biology, University of Bonn, Nussallee 10, 53125, Bonn, Germany.
Autism spectrum disorders (ASD) have a complex pathogenesis thought to include both genetic and extrinsic factors. Among the latter, inflammation of the developing brain has recently gained growing attention. However, how genetic predisposition and inflammation might converge to precipitate autistic behavior remains elusive.
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November 2024
Medical College, Taizhou Polytechnic College, No. 8 Tianxing Road, Medical High Tech Zone, Taizhou, 225300, China.
Engrailed 2 (EN2) is a homeodomain-containing protein whose aberrant expression is observed in various cancer types, yet its role in breast cancer remains unclear. This study investigates the roles and mechanisms of EN2 in breast cancer progression. Using online dataset analysis, we assessed the correlation between EN2 expression and breast cancer progression and chemotherapeutic sensitivity.
View Article and Find Full Text PDFDevelopment
July 2024
Developmental Biology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA.
The neurons of the three cerebellar nuclei (CN) are the primary output neurons of the cerebellum. The excitatory neurons (e) of the medial (m) CN (eCNm) were recently divided into molecularly defined subdomains in the adult; however, how they are established during development is not known. We define molecular subdomains of the mouse embryonic eCNm using single-cell RNA-sequencing and spatial expression analysis, showing that they evolve during embryogenesis to prefigure the adult.
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May 2024
Department of Cellular, Computational, and Integrative Biology (CIBIO), University of Trento, via Sommarive 9, 38123 Trento, Italy. Electronic address:
GABAergic interneurons and perineuronal nets (PNNs) are important regulators of plasticity throughout life and their dysfunction has been implicated in the pathogenesis of several neuropsychiatric conditions, including autism spectrum disorders (ASD). PNNs are condensed portions of the extracellular matrix (ECM) that are crucial for neural development and proper formation of synaptic connections. We previously showed a reduced expression of GABAergic interneuron markers in the hippocampus and somatosensory cortex of adult mice lacking the Engrailed2 gene (En2-/- mice), a mouse model of ASD.
View Article and Find Full Text PDFJ Anat
April 2024
Department of Veterinary Sciences, University of Pisa, Pisa, Italy.
Glial cells play a pivotal role in the inflammatory processes, which are common features of several neurodevelopmental and neurodegenerative disorders. Their major role in modulating neuroinflammation underscores their significance in these conditions. Engrailed-2 knockout mice (En2 ) are considered a valuable model for autism spectrum disorder (ASD) due to their distinctive neuroanatomical and behavioral traits.
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