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TranscriptomicsTranscription profiling by array of mouse Srd5a3 mutant embryos
Transcriptional profiling of e8.5 mouse embryos comparing wt with Srd5a3Gt(betaGeo)703Lex/Gt(betaGeo)703Lex. Goal was to determine the developmental pathway disrupted in the mutant.
ORGANISM(S): Mus musculus 
2010-07-01 | E-MEXP-2713 | biostudies-arrayexpress
TranscriptomicsAMPD2 Regulates GTP Synthesis and is Mutated in a Potentially-Treatable Neurodegenerative Brainstem Disorder
Purine biosynthesis and metabolism, conserved in all living organisms, is essential for cellular energy homeostasis and nucleic acids synthesis. The de novo synthesis of purine precursors is under tight negative feedback regulation mediated by adenine and guanine nucleotides. We describe a new early...
ORGANISM(S): Homo sapiens 
2013-12-01 | E-GEOD-46615 | biostudies-arrayexpress
UnknownOpposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.
Not available
S-EPMC7058823 | biostudies-literature
UnknownDisruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Not available
S-EPMC4890241 | biostudies-literature
UnknownAssociation Between Tumor Necrosis Factor Inhibitors and the Risk of Hospitalization or Death Among Patients With Immune-Mediated Inflammatory Disease and COVID-19.
Not available
S-EPMC8524310 | biostudies-literature
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