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@MISC{Mller:279478,
      author       = {Müller, Stephan A and Lichtenthaler, Stefan},
      title        = {{D}ataset: {P}roteome analysis of amniotic fluid from
                      fetuses with myelomeningocele from singleton pregnancies},
      publisher    = {PRoteomics IDEntifications Database},
      reportid     = {DZNE-2025-00805},
      year         = {2025},
      abstract     = {Despite numerous studies on fetal therapy for
                      myelomeningoceles (MMC), the pathophysiology of this
                      malformation remains poorly understood. This study aimed to
                      analyze the biochemical profile and proteome of amniotic
                      fluid (AF) supernatants from MMC fetuses to explore the
                      prenatal pathophysiology. Proteome analysis was conducted in
                      18 MMC and 18 healthy singleton fetuses, as well as in 5
                      dichorionic pregnancies with MMC fetuses and their healthy
                      co-twins. ELISA tests were used to validate proteome
                      results. Biochemical analysis revealed anal incontinence in
                      $37\%$ of MMC cases (p<0.0001), while controls had a normal
                      profile. Proteomics identified 2453 quantified proteins,
                      with 39 significantly up-regulated and 10 down-regulated in
                      MMC. Up-regulated proteins included ectodomains of CHL1,
                      APLP1, SEZ6, SEZ6L, which are generated by the Alzheimer’s
                      disease-linked protease BACE1. Some proteins varied with
                      disease and gestational age, e.g., CNTN1, NEO1, and DRAXIN.
                      COL11A2 and EFNB1 decreased in MMC, rising in controls.
                      Contrary to the in-utero inflammation or meconium
                      neurotoxicity hypothesis, our results suggest a CSF leak in
                      AF. Abundance of brain and spinal cord proteins may aid
                      diagnosis, characterizing cases and informing prognosis for
                      couples.},
      cin          = {AG Lichtenthaler},
      cid          = {I:(DE-2719)1110006},
      pnm          = {352 - Disease Mechanisms (POF4-352)},
      pid          = {G:(DE-HGF)POF4-352},
      typ          = {PUB:(DE-HGF)32},
      url          = {https://pub.dzne.de/record/279478},
}