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UnknownPrenatal Three-Dimensional Ultrasound Detection of Adducted Thumbs in X-Linked Hydrocephaly: Two Case Reports with Molecular Genetic Studies.
Not available
S-EPMC4452865 | biostudies-literature
UnknownProliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism.
Not available
S-EPMC6014450 | biostudies-literature
UnknownThe gene for soluble N-ethylmaleimide sensitive factor attachment protein alpha is mutated in hydrocephaly with hop gait (hyh) mice.
Not available
S-EPMC341847 | biostudies-literature
UnknownLife without a brain: Neuroradiological and behavioral evidence of neuroplasticity necessary to sustain brain function in the face of severe hydrocephalus.
Not available
S-EPMC6848215 | biostudies-literature
TranscriptomicsTransgenic mice with an R342X mutation in Phf6 have reduced protein levels and behavior deficits yet few prominent features of Börjeson-Forssman-Lehmann Syndrome (BFLS).
The PHF6 mutation, R342X, is a recurrent cause of Börjeson-Forssman-Lehmann Syndrome (BFLS), a neurodevelopmental disorder (MIM#301900). We generated transgenic mice with the identical substitution using CRISPR technology. We show that the R342X mutation causes a reduction in PHF6 protein levels, in...
ORGANISM(S): Mus musculus 
2022-11-28 | GSE156404 | GEO
ProteomicsTranslational activity of the splicing factor SRSF1 is required for development and cilia function
The SR protein family of splicing factors regulate constitutive and alternative pre-mRNA splicing. A subset of them, including SRSF1, shuttles continuously between the nucleus and cytoplasm affecting post-splicing processes. We have previously identified a role for SRSF1 in promoting the translation...
ORGANISM(S): Mus musculus (Mouse) 
2021-08-06 | PXD019859 | Pride
Sr proteins/ srsf1/ mrna translation/ alternative splicing/ cilia 
UnknownSix3 is required for ependymal cell maturation.
Not available
S-EPMC3222208 | biostudies-literature
UnknownInvestigating the efficacy and safety of metronidazole during pregnancy; A systematic review and meta-analysis.
Not available
S-EPMC8176309 | biostudies-literature
UnknownPOLD3 Is Haploinsufficient for DNA Replication in Mice.
Not available
S-EPMC5029548 | biostudies-literature
UnknownGEMC1 is a critical regulator of multiciliated cell differentiation.
Not available
S-EPMC5207319 | biostudies-literature
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