Results 21 to 30 of about 332,161 (328)
PLoS ONE, 2014 In rodent female mammals, there are two forms of X-inactivation - imprinted and random which take place in extraembryonic and embryonic tissues, respectively.
Evgeniya A Vaskova +7 more
doaj +1 more source
Genomic environment predicts expression patterns on the human inactive X chromosome. [PDF]
PLoS Genetics, 2006 What genomic landmarks render most genes silent while leaving others expressed on the inactive X chromosome in mammalian females? To date, signals determining expression status of genes on the inactive X remain enigmatic despite the availability of ...
Laura Carrel +5 more
doaj +1 more source
Human Naive Pluripotent Stem Cells Model X Chromosome Dampening and X Inactivation [PDF]
, 2017 Naive human embryonic stem cells (hESCs) can be derived from primed hESCs or directly from blastocysts, but their X chromosome state has remained unresolved.
Bonora, Giancarlo +10 more
core +1 more source
LPS resistance of SPRET/Ei mice is mediated by Gilz, encoded by the Tsc22d3 gene on the X chromosome [PDF]
, 2013 Natural variation for LPS-induced lethal inflammation in mice is useful for identifying new genes that regulate sepsis, which could form the basis for novel therapies for systemic inflammation in humans.
Beaulieu E +12 more
core +2 more sources
Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis. [PDF]
, 2015 Methylation of the fragile X mental retardation 1 (FMR1) exon 1/intron 1 boundary positioned fragile X related epigenetic element 2 (FREE2), reveals skewed X-chromosome inactivation (XCI) in fragile X syndrome full mutation (FM: CGG > 200) females ...
Amor, David J +13 more
core +2 more sources
JCRPE, 2019 Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked disease caused by PHF6 mutations. Classic BFLS has been associated with intellectual disability (ID), developmental delay (DD), obesity, epilepsy, typical facial features and anomalies of ...
Xia Zhang +9 more
doaj +1 more source
Systematic optimization of human pluripotent stem cells media using Design of Experiments. [PDF]
, 2015 Human pluripotent stem cells (hPSC) are used to study the early stages of human development in vitro and, increasingly due to somatic cell reprogramming, cellular and molecular mechanisms of disease.
Chailangkarn, Thanathom +2 more
core +1 more source
Clinical expression of Menkes disease in females with normal karyotype
Orphanet Journal of Rare Diseases, 2012 Background Menkes Disease (MD) is a rare X-linked recessive fatal neurodegenerative disorder caused by mutations in the ATP7A gene, and most patients are males.
Møller Lisbeth +13 more
doaj +1 more source
Independent evolution of transcriptional inactivation on sex chromosomes in birds and mammals. [PDF]
PLoS Genetics, 2013 X chromosome inactivation in eutherian mammals has been thought to be tightly controlled, as expected from a mechanism that compensates for the different dosage of X-borne genes in XX females and XY males.
Alexandra M Livernois +4 more
doaj +1 more source
Metaphase chromosome folds and X‐inactivation [PDF]
American Journal of Medical Genetics, 1987 AbstractTo evaluate the suggested nonrandom folding of Xql3‐q21 (center of Barr body condensation) of the inactivated X chromosomes, metaphases from nine subjects with or without X chromosome abnormalities (eight females and one male) were investigated with RBG‐staining.
Merlin G. Butler +3 more
openaire +2 more sources