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GenomicsChIP-seq analysis of PHF20 and Wdr5 binding sites in ESCs
Although reprogramming of somatic cells to generate inducible pluripotent stem cells (iPSCs) is associated with remarkable epigenetic changes, the role and mechanisms of epigenetic factors in this process remains poorly understood. Here we describe identification of Jmjd3 as a potent negative regula...
ORGANISM(S): Mus musculus 
2013-12-06 | E-GEOD-43247 | biostudies-arrayexpress
ProteomicsVariants in SART3 cause a novel spliceosomopathy characterised by failure of testis development and neuronal defects
Squamous cell carcinoma antigen recognized by T cells 3 (SART3) is an RNA binding protein that regulates a diverse array of biological processes, including recycling small nuclear ribonucleic acids (snRNAs) back to the spliceosome. Here we describe nine individuals from six independent families with...
ORGANISM(S): Homo sapiens (Human) 
2023-06-11 | PXD032816 | Pride
Gonadal dysgenesis 46 Neurodevelopmental disorder Spliceosome Xy dsd Sart3 Tip110 
UnknownA novel, homozygous mutation in desert hedgehog (DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report.
Not available
S-EPMC5834851 | biostudies-literature
UnknownIntegrative analysis of loss-of-function variants in clinical and genomic data reveals novel genes associated with cardiovascular traits.
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S-EPMC6657044 | biostudies-literature
UnknownExamination of germline and somatic intercellular bridges in <i>Hydra vulgaris</i> reveals insights into the evolutionarily conserved mechanism of intercellular bridge formation.
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S-EPMC11870534 | biostudies-literature
UnknownExamination of Germline and Somatic Intercellular Bridges in Hydra vulgaris Reveals Insights into the Evolutionarily Conserved Mechanism of Intercellular Bridge Formation.
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S-EPMC12599322 | biostudies-literature
UnknownCo-creating a Theory of Change to advance COVID-19 testing and vaccine uptake in underserved communities.
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S-EPMC9108217 | biostudies-literature
UnknownComparative analyses of population-scale phenomic data in electronic medical records reveal race-specific disease networks.
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S-EPMC4908366 | biostudies-literature
UnknownMelanocortin 4 Receptor Pathway Dysfunction in Obesity: Patient Stratification Aimed at MC4R Agonist Treatment.
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S-EPMC7263790 | biostudies-literature
UnknownGenome-wide linkage analysis for human longevity: Genetics of Healthy Aging Study.
Not available
S-EPMC3725963 | biostudies-literature
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