Home > Publications Database > Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus. > print

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005     20230915090535.0
024 7 _ |a pmc:PMC9664907
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024 7 _ |a 10.1038/s41593-022-01043-3
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024 7 _ |a pmid:35379995
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024 7 _ |a 1097-6256
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024 7 _ |a 1546-1726
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024 7 _ |a altmetric:125925587
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037 _ _ |a DZNE-2022-00491
041 _ _ |a English
082 _ _ |a 610
100 1 _ |a Duy, Phan Q
|0 0000-0002-4513-7348
|b 0
245 _ _ |a Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus.
260 _ _ |a New York, NY
|c 2022
|b Nature America
336 7 _ |a article
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336 7 _ |a Journal Article
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336 7 _ |a ARTICLE
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336 7 _ |a Journal Article
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520 _ _ |a 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.
536 _ _ |a 354 - Disease Prevention and Healthy Aging (POF4-354)
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650 _ 7 |a Tripartite Motif Proteins
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650 _ 7 |a TRIM71 protein, human
|0 EC 2.3.2.27
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650 _ 7 |a Ubiquitin-Protein Ligases
|0 EC 2.3.2.27
|2 NLM Chemicals
650 _ 2 |a Exome Sequencing
|2 MeSH
650 _ 2 |a Animals
|2 MeSH
650 _ 2 |a Biomechanical Phenomena
|2 MeSH
650 _ 2 |a Brain: metabolism
|2 MeSH
650 _ 2 |a Cerebrospinal Fluid: metabolism
|2 MeSH
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Hydrocephalus: cerebrospinal fluid
|2 MeSH
650 _ 2 |a Hydrocephalus: genetics
|2 MeSH
650 _ 2 |a Mice
|2 MeSH
650 _ 2 |a Neurogenesis: genetics
|2 MeSH
650 _ 2 |a Tripartite Motif Proteins: genetics
|2 MeSH
650 _ 2 |a Tripartite Motif Proteins: metabolism
|2 MeSH
650 _ 2 |a Ubiquitin-Protein Ligases: genetics
|2 MeSH
650 _ 2 |a Whole Exome Sequencing
|2 MeSH
700 1 _ |a Weise, Stefan C
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700 1 _ |a Marini, Claudia
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700 1 _ |a Li, Xiao-Jun
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700 1 _ |a Liang, Dan
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700 1 _ |a Dahl, Peter J
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700 1 _ |a Ma, Shaojie
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700 1 _ |a Spajic, Ana
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700 1 _ |a Dong, Weilai
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700 1 _ |a Pedram, Maysam Z
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700 1 _ |a Torres-Fernández, Lucia A
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700 1 _ |a Händler, Kristian
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700 1 _ |a de Domenico, Elena
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700 1 _ |a Becker, Matthias Kai Holger
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700 1 _ |a Ulas, Thomas
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700 1 _ |a Juranek, Stefan A
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700 1 _ |a Cuevas, Elisa
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700 1 _ |a Hao, Le Thi
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700 1 _ |a Jux, Bettina
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700 1 _ |a Sousa, André M M
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700 1 _ |a Liu, Fuchen
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700 1 _ |a Kim, Suel-Kee
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700 1 _ |a Li, Mingfeng
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700 1 _ |a Yang, Yiying
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700 1 _ |a Takeo, Yutaka
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700 1 _ |a Duque, Alvaro
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700 1 _ |a Nelson-Williams, Carol
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700 1 _ |a Ha, Yonghyun
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700 1 _ |a Selvaganesan, Kartiga
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700 1 _ |a Robert, Stephanie M
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700 1 _ |a Singh, Amrita K
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700 1 _ |a Allington, Garrett
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700 1 _ |a Furey, Charuta G
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700 1 _ |a Timberlake, Andrew T
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700 1 _ |a Reeves, Benjamin C
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700 1 _ |a Smith, Hannah
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700 1 _ |a Dunbar, Ashley
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700 1 _ |a DeSpenza, Tyrone
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700 1 _ |a Goto, June
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700 1 _ |a Marlier, Arnaud
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700 1 _ |a Moreno-De-Luca, Andres
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700 1 _ |a Yu, Xin
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700 1 _ |a Butler, William E
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700 1 _ |a Carter, Bob S
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700 1 _ |a Lake, Evelyn M R
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700 1 _ |a Constable, R Todd
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700 1 _ |a Rakic, Pasko
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700 1 _ |a Lin, Haifan
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700 1 _ |a Deniz, Engin
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700 1 _ |a Benveniste, Helene
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700 1 _ |a Malvankar, Nikhil S
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700 1 _ |a Estrada-Veras, Juvianee I
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700 1 _ |a Walsh, Christopher A
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700 1 _ |a Alper, Seth L
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700 1 _ |a Schultze, Joachim
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700 1 _ |a Paeschke, Katrin
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700 1 _ |a Doetzlhofer, Angelika
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700 1 _ |a Wulczyn, F Gregory
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700 1 _ |a Jin, Sheng Chih
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700 1 _ |a Lifton, Richard P
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700 1 _ |a Sestan, Nenad
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700 1 _ |a Kolanus, Waldemar
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700 1 _ |a Kahle, Kristopher T
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773 _ _ |a 10.1038/s41593-022-01043-3
|g Vol. 25, no. 4, p. 458 - 473
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