% IMPORTANT: The following is UTF-8 encoded.  This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.

@ARTICLE{Duy:163752,
      author       = {Duy, Phan Q and Weise, Stefan C and Marini, Claudia and Li,
                      Xiao-Jun and Liang, Dan and Dahl, Peter J and Ma, Shaojie
                      and Spajic, Ana and Dong, Weilai and Juusola, Jane and
                      Kiziltug, Emre and Kundishora, Adam J and Koundal, Sunil and
                      Pedram, Maysam Z and Torres-Fernández, Lucia A and
                      Händler, Kristian and de Domenico, Elena and Becker,
                      Matthias Kai Holger and Ulas, Thomas and Juranek, Stefan A
                      and Cuevas, Elisa and Hao, Le Thi and Jux, Bettina and
                      Sousa, André M M and Liu, Fuchen and Kim, Suel-Kee and Li,
                      Mingfeng and Yang, Yiying and Takeo, Yutaka and Duque,
                      Alvaro and Nelson-Williams, Carol and Ha, Yonghyun and
                      Selvaganesan, Kartiga and Robert, Stephanie M and Singh,
                      Amrita K and Allington, Garrett and Furey, Charuta G and
                      Timberlake, Andrew T and Reeves, Benjamin C and Smith,
                      Hannah and Dunbar, Ashley and DeSpenza, Tyrone and Goto,
                      June and Marlier, Arnaud and Moreno-De-Luca, Andres and Yu,
                      Xin and Butler, William E and Carter, Bob S and Lake, Evelyn
                      M R and Constable, R Todd and Rakic, Pasko and Lin, Haifan
                      and Deniz, Engin and Benveniste, Helene and Malvankar,
                      Nikhil S and Estrada-Veras, Juvianee I and Walsh,
                      Christopher A and Alper, Seth L and Schultze, Joachim and
                      Paeschke, Katrin and Doetzlhofer, Angelika and Wulczyn, F
                      Gregory and Jin, Sheng Chih and Lifton, Richard P and
                      Sestan, Nenad and Kolanus, Waldemar and Kahle, Kristopher T},
      title        = {{I}mpaired neurogenesis alters brain biomechanics in a
                      neuroprogenitor-based genetic subtype of congenital
                      hydrocephalus.},
      journal      = {Nature neuroscience},
      volume       = {25},
      number       = {4},
      issn         = {1097-6256},
      address      = {New York, NY},
      publisher    = {Nature America},
      reportid     = {DZNE-2022-00491},
      pages        = {458 - 473},
      year         = {2022},
      abstract     = {Hydrocephalus, characterized by cerebral ventricular
                      dilatation, is routinely attributed to primary defects in
                      cerebrospinal fluid (CSF) homeostasis. This fosters CSF
                      shunting as the leading reason for brain surgery in children
                      despite considerable disease heterogeneity. In this study,
                      by integrating human brain transcriptomics with whole-exome
                      sequencing of 483 patients with congenital hydrocephalus
                      (CH), we found convergence of CH risk genes in embryonic
                      neuroepithelial stem cells. Of all CH risk genes,
                      TRIM71/lin-41 harbors the most de novo mutations and is most
                      specifically expressed in neuroepithelial cells. Mice
                      harboring neuroepithelial cell-specific Trim71 deletion or
                      CH-specific Trim71 mutation exhibit prenatal hydrocephalus.
                      CH mutations disrupt TRIM71 binding to its RNA targets,
                      causing premature neuroepithelial cell differentiation and
                      reduced neurogenesis. Cortical hypoplasia leads to a
                      hypercompliant cortex and secondary ventricular enlargement
                      without primary defects in CSF circulation. These data
                      highlight the importance of precisely regulated
                      neuroepithelial cell fate for normal brain-CSF biomechanics
                      and support a clinically relevant neuroprogenitor-based
                      paradigm of CH.},
      keywords     = {Exome Sequencing / Animals / Biomechanical Phenomena /
                      Brain: metabolism / Cerebrospinal Fluid: metabolism / Humans
                      / Hydrocephalus: cerebrospinal fluid / Hydrocephalus:
                      genetics / Mice / Neurogenesis: genetics / Tripartite Motif
                      Proteins: genetics / Tripartite Motif Proteins: metabolism /
                      Ubiquitin-Protein Ligases: genetics / Whole Exome Sequencing
                      / Tripartite Motif Proteins (NLM Chemicals) / TRIM71
                      protein, human (NLM Chemicals) / Ubiquitin-Protein Ligases
                      (NLM Chemicals)},
      cin          = {AG Schultze / $R\&D$ PRECISE / Modular High Performance
                      Computing},
      ddc          = {610},
      cid          = {I:(DE-2719)1013031 / I:(DE-2719)5000031 /
                      I:(DE-2719)5000079},
      pnm          = {354 - Disease Prevention and Healthy Aging (POF4-354)},
      pid          = {G:(DE-HGF)POF4-354},
      typ          = {PUB:(DE-HGF)16},
      pmc          = {pmc:PMC9664907},
      pubmed       = {pmid:35379995},
      doi          = {10.1038/s41593-022-01043-3},
      url          = {https://pub.dzne.de/record/163752},
}