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TranscriptomicsBulk RNA-seq of primary mouse neural progenitor cells derived from the embryonic neocortex or medial ganglionic eminence at different time points after exposure to ionizing radiation
Embryonic DNA damage, e.g. resulting from exposure to moderate and high doses of ionizing radiation, has important consequences on the normal neurodevelopment, often resulting in microcephaly that can be associated with seizures. The effects of prenatal radiation exposure have previously been invest...
ORGANISM(S): Mus musculus 
2025-10-01 | E-MTAB-14528 | biostudies-arrayexpress
GenomicsDNA-seq to investigate a novel frameshift variant in the ASXL3 gene in a patient with phenotypic features of Bainbridge-Ropers syndrome
We performed a targeted NGS using the commercial gene panel design ClearSeq Inherited Disease (Agilent Technologies) to identify the pathogenic sequence variants in a girl presenting an apparent microcephaly with mild dysmorphic facial features, delayed psychomotoric development and central hypotoni...
ORGANISM(S): Homo sapiens 
2019-04-15 | E-MTAB-7026 | biostudies-arrayexpress
ProteomicsAberrant NAD+ metabolism underlies Zika virus-induced microcephaly
ZIKV-infection during pregnancy can cause microcephaly in newborns, yet the underlying mechanisms remain largely unexplored. Here, we reveal extensive and large-scale metabolic reprogramming events in ZIKV-infected mouse brains. We perform a multi-omics study comprising transcriptomics, proteomics, ...
ORGANISM(S): Mus Musculus 
2021-06-18 | PXD026814 |
TranscriptomicsComparative genome hybridisation by array to investigate a novel frameshift variant in the ASXL3 gene in a patient with phenotypic features of Bainbridge-Ropers syndrome
We performed array-CGH and targeted massive parallel sequencing using the commercial gene panel design ClearSeq Inherited Disease (Agilent Technologies) to identify the pathogenic sequence variants in a girl presenting an apparent microcephaly with mild dysmorphic facial features, delayed psychomoto...
ORGANISM(S): Homo sapiens 
2019-04-15 | E-MTAB-7027 | biostudies-arrayexpress
GenomicsDistinct pathophysiological mechanisms of CEP152 variants in microcephaly and brain abnormalities
Distinct pathophysiological mechanisms of CEP152 variants in microcephaly and brain abnormalities
PRJNA1438491 | ENA
TranscriptomicsTranscription profiling of murine embryonic head Phgdh knock outs
D-3-Phosphoglycerate dehydrogenase (Phgdh; EC 1.1.1.95) is a necessary enzyme for de novo L-serine biosynthesis via the phosphorylated pathway. We demonstrated previously that Phgdh is expressed exclusively by neuroepithelium and radial glia in developing mouse brain and later mainly by astrocytes. ...
ORGANISM(S): Mus musculus 
2008-06-17 | E-GEOD-8555 | biostudies-arrayexpress
GenomicsEPIC analysis of Brazilian babies born with congenital microcephaly
EPIC analysis of Brazilian babies born with congenital microcephaly
PRJNA606477 | ENA
ProteomicsBiallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia by impairing autophagy
Neurodevelopmental disorders have great clinical and genetic heterogeneity and are known to arise from dysfunction in components of diverse cellular pathways, the precise pathomechanism for the majority however remains elusive. We studied five patients from three unrelated families originating from ...
ORGANISM(S): Homo sapiens (Human) 
2024-10-17 | PXD044735 | Pride
Microcephaly Autophagy Zftraf1 
ProteomicsIntegrative systems biology characterizes immune-mediated neurodevelopmental changes in murine Zika Virus microcephaly
A new mouse model for congenital Zika infection in a wildtype, immunocompetent background employing intraplacental infection resulted in productive infection of embryonic brains and features of microcephaly during early development (E10.5-16.5). Gross morphological characterization showed translatio...
ORGANISM(S): Mus Musculus (ncbitaxon:10090) 
2023-03-06 | MSV000091415 | MassIVE
ProteomicsProteomic profiles of ZIKV-positive placentas of fetuses with microcephaly
Here we use a proteomic approach to study the role of the placenta in ZIKV-induced microcephaly and the mechanisms of ZIKV to cross the placental barrier. Samples were separated into three groups: an uninfected control group (ZIKV-CZS-), a group of placentas infected by ZIKV with normal neonates (ZI...
ORGANISM(S): Homo sapiens (Human) 
2024-07-02 | PXD023777 | Pride
Zika virus  proteomics  microcephaly  placenta  immune response  congenital zika syndrome 
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