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Keywords: Microcephaly
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Journal Articles
In collection:
Neural development
Journal: Development
Development (2022) 149 (7): dev199987.
Published: 31 March 2022
...Ryan S. O'Neill; Nasser M. Rusan ABSTRACT Microcephaly is a failure to develop proper brain size and neuron number. Mutations in diverse genes are linked to microcephaly, including several with DNA damage repair (DDR) functions; however, it is not well understood how these DDR gene mutations limit...
Includes: Supplementary data
Journal Articles
In collection:
Neural development
Journal: Development
Development (2021) 148 (20): dev199591.
Published: 19 October 2021
...Alisa K. White; Marybeth Baumgartner; Madisen F. Lee; Kyle D. Drake; Gabriela S. Aquino; Rahul N. Kanadia ABSTRACT Minor spliceosome inhibition due to mutations in RNU4ATAC are linked to primary microcephaly. Ablation of Rnu11 , which encodes a minor spliceosome snRNA, inhibits the minor...
Includes: Supplementary data
Journal Articles
Journal: Development
Development (2020) 147 (21): dev191411.
Published: 28 September 2020
...-causing genes. Importantly, Drosophila allow quick and sophisticated genetic manipulations, permit functional testing of human variants, enable the characterization of pathogenic mechanisms and are amenable to drug tests. In this Spotlight, focusing on microcephaly as a case study, we highlight how...
Journal Articles
Journal: Development
Development (2019) 146 (23): dev176685.
Published: 11 December 2019
... ) and WD repeat domain 62 ( W dr62 ), orthologs of the two most commonly mutated genes in human microcephaly patients. Our work demonstrates the power of combining µ-CT with traditional genetic, cellular and developmental biology tools available in model organisms to address novel biological mechanisms...
Includes: Supplementary data
Journal Articles
Journal: Development
Development (2018) 145 (17): dev166322.
Published: 28 August 2018
... primordial dwarfism type 1 (MOPD1). Here, we inactivated the minor spliceosome in the developing mouse cortex (pallium) by ablating Rnu11 , which encodes the crucial minor spliceosome small nuclear RNA (snRNA) U11. Rnu11 conditional knockout mice were born with microcephaly, which was caused by the death...
Includes: Supplementary data
Journal Articles
Journal: Development
Development (2017) 144 (6): 952–957.
Published: 15 March 2017
... to the global health emergency posed by the Zika virus (ZIKV) outbreak, brain organoids engineered to mimic the developing human fetal brain have been employed to model ZIKV-induced microcephaly. Here, we discuss the advantages of brain organoids over other model systems to study development and highlight...
Journal Articles
Journal: Development
Development (2016) 143 (22): 4127–4136.
Published: 15 November 2016
... microcephaly. However, the fate of other cell types in the developing brain and their contributions to ZIKV-associated brain abnormalities remain largely unknown. Using intracerebral inoculation of embryonic mouse brains, we found that ZIKV infection leads to postnatal growth restriction including microcephaly...
Includes: Supplementary data
Journal Articles
In collection:
Neural development
Journal: Development
Development (2016) 143 (21): 4038–4052.
Published: 1 November 2016
...Patrick Y. Lang; Gouri J. Nanjangud; Marina Sokolsky-Papkov; Christine Shaw; Duhyeong Hwang; Joel S. Parker; Alexander V. Kabanov; Timothy R. Gershon Microcephaly and medulloblastoma may both result from mutations that compromise genomic stability. We report that ATR, which is mutated...
Includes: Supplementary data
Journal Articles
Journal: Development
Development (2016) 143 (7): 1126–1133.
Published: 1 April 2016
... in the constituents of microtubules, the tubulins, are known to cause an array of neurological disorders, including lissencephaly, polymicrogyria and microcephaly. In this study we explore the genetic and cellular mechanisms that cause TUBB5-associated microcephaly by exploiting two new mouse models: a conditional...
Includes: Supplementary data
Journal Articles
Journal: Development
Development (2015) 142 (22): 3921–3932.
Published: 15 November 2015
...Scott E. Williams; Idoia Garcia; Andrew J. Crowther; Shiyi Li; Alyssa Stewart; Hedi Liu; Kendall J. Lough; Sean O'Neill; Katherine Veleta; Esteban A. Oyarzabal; Joseph R. Merrill; Yen-Yu Ian Shih; Timothy R. Gershon Alterations in genes that regulate brain size may contribute to both microcephaly...
Includes: Supplementary data
Journal Articles
Journal: Development
Development (2013) 140 (23): 4672–4682.
Published: 1 December 2013
... contributed equally to this work Competing interests The authors declare no competing financial interests. 11 1 2013 17 9 2013 © 2013. Published by The Company of Biologists Ltd 2013 Microcephaly Cortical development Kinesin-6 Kif20b Cytokinesis Abscission...
Includes: Supplementary data