J. Blair

Publications20
h-index12
Citations940
Highly Influential Citations42
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The human placenta methylome
TLDR
It is found that PMDs cover 37% of the placental genome, are stable throughout gestation and between individuals, and can be observed with lower sensitivity in Illumina 450K Infinium data, and RNA-seq analysis confirmed that genes in PMDs are repressed in placenta.
Widespread DNA hypomethylation at gene enhancer regions in placentas associated with early-onset pre-eclampsia
TLDR
There are widespread DNA methylation alterations in EOPET that may be associated with changes in placental function, and this property may provide a useful tool for early screening of such placentas, according to this study.
Genetically-engineered human cortical spheroid models of Tuberous Sclerosis
TLDR
It is shown that mosaic biallelic inactivation during neural progenitor expansion is necessary for the formation of dysplastic cells and increased glia production in three-dimensional cortical spheroids and suggests that variable developmental timing of somatic mutations could contribute to the heterogeneity in the neurological presentation of TSC.
Hypomethylation of the LEP gene in placenta and elevated maternal leptin concentration in early onset pre-eclampsia
Hypoxia alters the epigenetic profile in cultured human placental trophoblasts
TLDR
It is suggested that AP-1 expression is triggered by hypoxia and interacts with DNA methyltransferases (DNMTs) to target methylation at specific sites in the genome, thus causing suppression of the associated genes that are responsible for differentiation of villous cytotrophoblast to syncytiotrophoblasts.
Early Onset Pre-Eclampsia Is Associated with Altered DNA Methylation of Cortisol-Signalling and Steroidogenic Genes in the Placenta
TLDR
DNA methylation was increased at CpG sites within genes encoding the glucocorticoid receptor and corticotropin releasing hormone (CRH) binding protein and decreased within CRH (5′ UTR; −4.30%; P = 0.11) in EOPET-associated placentae, but not in LOPET nor nIUGR cases, compared to controls.
Widespread Translational Remodeling during Human Neuronal Differentiation.
Overlapping DNA methylation profile between placentas with trisomy 16 and early-onset preeclampsia.
Widespread DNA hypomethylation at gene enhancer and low CpG density regions in placentas associated with early-onset preeclampsia
Widespread translational remodeling during human neuronal differentiation
TLDR
It is found that thousands of genes change at the translation level across differentiation without a corresponding change in RNA level, and mTOR complex 1 signaling is identified as a key driver for elevated translation of translation-related genes in hESCs.
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