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000163752 037__ $$aDZNE-2022-00491
000163752 041__ $$aEnglish
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000163752 1001_ $$00000-0002-4513-7348$$aDuy, Phan Q$$b0
000163752 245__ $$aImpaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus.
000163752 260__ $$aNew York, NY$$bNature America$$c2022
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000163752 520__ $$aHydrocephalus, 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.
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000163752 650_7 $$2NLM Chemicals$$aTripartite Motif Proteins
000163752 650_7 $$0EC 2.3.2.27$$2NLM Chemicals$$aTRIM71 protein, human
000163752 650_7 $$0EC 2.3.2.27$$2NLM Chemicals$$aUbiquitin-Protein Ligases
000163752 650_2 $$2MeSH$$aExome Sequencing
000163752 650_2 $$2MeSH$$aAnimals
000163752 650_2 $$2MeSH$$aBiomechanical Phenomena
000163752 650_2 $$2MeSH$$aBrain: metabolism
000163752 650_2 $$2MeSH$$aCerebrospinal Fluid: metabolism
000163752 650_2 $$2MeSH$$aHumans
000163752 650_2 $$2MeSH$$aHydrocephalus: cerebrospinal fluid
000163752 650_2 $$2MeSH$$aHydrocephalus: genetics
000163752 650_2 $$2MeSH$$aMice
000163752 650_2 $$2MeSH$$aNeurogenesis: genetics
000163752 650_2 $$2MeSH$$aTripartite Motif Proteins: genetics
000163752 650_2 $$2MeSH$$aTripartite Motif Proteins: metabolism
000163752 650_2 $$2MeSH$$aUbiquitin-Protein Ligases: genetics
000163752 650_2 $$2MeSH$$aWhole Exome Sequencing
000163752 7001_ $$aWeise, Stefan C$$b1
000163752 7001_ $$aMarini, Claudia$$b2
000163752 7001_ $$aLi, Xiao-Jun$$b3
000163752 7001_ $$aLiang, Dan$$b4
000163752 7001_ $$aDahl, Peter J$$b5
000163752 7001_ $$00000-0002-8782-3047$$aMa, Shaojie$$b6
000163752 7001_ $$aSpajic, Ana$$b7
000163752 7001_ $$00000-0002-8376-1758$$aDong, Weilai$$b8
000163752 7001_ $$aJuusola, Jane$$b9
000163752 7001_ $$aKiziltug, Emre$$b10
000163752 7001_ $$aKundishora, Adam J$$b11
000163752 7001_ $$aKoundal, Sunil$$b12
000163752 7001_ $$aPedram, Maysam Z$$b13
000163752 7001_ $$aTorres-Fernández, Lucia A$$b14
000163752 7001_ $$0P:(DE-2719)2812735$$aHändler, Kristian$$b15$$udzne
000163752 7001_ $$0P:(DE-2719)9000846$$ade Domenico, Elena$$b16$$udzne
000163752 7001_ $$0P:(DE-2719)2812750$$aBecker, Matthias Kai Holger$$b17$$udzne
000163752 7001_ $$0P:(DE-2719)9000845$$aUlas, Thomas$$b18$$udzne
000163752 7001_ $$00000-0002-9136-4461$$aJuranek, Stefan A$$b19
000163752 7001_ $$aCuevas, Elisa$$b20
000163752 7001_ $$aHao, Le Thi$$b21
000163752 7001_ $$aJux, Bettina$$b22
000163752 7001_ $$aSousa, André M M$$b23
000163752 7001_ $$00000-0003-0380-850X$$aLiu, Fuchen$$b24
000163752 7001_ $$00000-0003-0240-9304$$aKim, Suel-Kee$$b25
000163752 7001_ $$00000-0002-7959-6008$$aLi, Mingfeng$$b26
000163752 7001_ $$aYang, Yiying$$b27
000163752 7001_ $$aTakeo, Yutaka$$b28
000163752 7001_ $$00000-0002-5086-5438$$aDuque, Alvaro$$b29
000163752 7001_ $$00000-0003-0768-4751$$aNelson-Williams, Carol$$b30
000163752 7001_ $$00000-0002-7845-0090$$aHa, Yonghyun$$b31
000163752 7001_ $$aSelvaganesan, Kartiga$$b32
000163752 7001_ $$aRobert, Stephanie M$$b33
000163752 7001_ $$aSingh, Amrita K$$b34
000163752 7001_ $$aAllington, Garrett$$b35
000163752 7001_ $$aFurey, Charuta G$$b36
000163752 7001_ $$00000-0002-8926-9692$$aTimberlake, Andrew T$$b37
000163752 7001_ $$00000-0002-5924-6991$$aReeves, Benjamin C$$b38
000163752 7001_ $$aSmith, Hannah$$b39
000163752 7001_ $$aDunbar, Ashley$$b40
000163752 7001_ $$aDeSpenza, Tyrone$$b41
000163752 7001_ $$00000-0002-4000-9750$$aGoto, June$$b42
000163752 7001_ $$aMarlier, Arnaud$$b43
000163752 7001_ $$00000-0002-2732-4043$$aMoreno-De-Luca, Andres$$b44
000163752 7001_ $$aYu, Xin$$b45
000163752 7001_ $$aButler, William E$$b46
000163752 7001_ $$aCarter, Bob S$$b47
000163752 7001_ $$00000-0001-8255-8013$$aLake, Evelyn M R$$b48
000163752 7001_ $$00000-0001-5661-9521$$aConstable, R Todd$$b49
000163752 7001_ $$00000-0002-6963-0508$$aRakic, Pasko$$b50
000163752 7001_ $$00000-0002-5374-9491$$aLin, Haifan$$b51
000163752 7001_ $$aDeniz, Engin$$b52
000163752 7001_ $$00000-0002-2887-6667$$aBenveniste, Helene$$b53
000163752 7001_ $$00000-0001-5611-6633$$aMalvankar, Nikhil S$$b54
000163752 7001_ $$00000-0002-2372-0372$$aEstrada-Veras, Juvianee I$$b55
000163752 7001_ $$00000-0002-0156-2238$$aWalsh, Christopher A$$b56
000163752 7001_ $$00000-0002-6228-2512$$aAlper, Seth L$$b57
000163752 7001_ $$0P:(DE-2719)2811660$$aSchultze, Joachim$$b58$$udzne
000163752 7001_ $$aPaeschke, Katrin$$b59
000163752 7001_ $$00000-0002-7424-2112$$aDoetzlhofer, Angelika$$b60
000163752 7001_ $$00000-0001-9850-2444$$aWulczyn, F Gregory$$b61
000163752 7001_ $$aJin, Sheng Chih$$b62
000163752 7001_ $$aLifton, Richard P$$b63
000163752 7001_ $$00000-0003-0966-9619$$aSestan, Nenad$$b64
000163752 7001_ $$00000-0003-1325-9444$$aKolanus, Waldemar$$b65
000163752 7001_ $$00000-0002-5922-7547$$aKahle, Kristopher T$$b66
000163752 773__ $$0PERI:(DE-600)1494955-6$$a10.1038/s41593-022-01043-3$$gVol. 25, no. 4, p. 458 - 473$$n4$$p458 - 473$$tNature neuroscience$$v25$$x1097-6256$$y2022
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