Results 51 to 60 of about 334,421 (299)
We reconstituted Synechocystis glycogen synthesis in vitro from purified enzymes and showed that two GlgA isoenzymes produce glycogen with different architectures: GlgA1 yields denser, highly branched glycogen, whereas GlgA2 synthesizes longer, less‐branched chains.
Kenric Lee +3 more
wiley +1 more source
X chromosome inactivation, X-linked disorders, and cancer
X chromosome inactivation is an essential process that compensates for gene dosage differences between men and women. During early embryogenesis, one of the two X chromosomes in females is randomly selected for transcriptional silencing, inactivating ...
Consuelo Salas-Labadía +6 more
doaj +1 more source
X-inactivation by chromosomal pairing events [PDF]
X-inactivation is the coordinated silencing of nearly all genes on one of the two X chromosomes in female mammals. X-inactivation requires the cis-acting Xist gene. The highly unusual properties of Xist and the extremely long distances over which Xist acts have made it difficult to reconcile X-inactivation with other examples of gene regulation.
openaire +2 more sources
Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis. [PDF]
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
Structural and biochemical characterisations show that the planar cell polarity (PCP) protein Inturned harbours a unique PDZ‐like domain that does not bind canonical PDZ‐binding motifs (PBMs) like that of another PCP protein Vangl2. In contrast, the apical‐basal polarity protein Scribble contains four PDZ domains that bind Vangl2, but one PDZ domain ...
Stephan Wilmes +4 more
wiley +1 more source
High-resolution Xist binding maps reveal 2-step spreading during X-inactivation [PDF]
The Xist long noncoding RNA (lncRNA) is essential for X-chromosome inactivation (XCI), the process by which mammals compensate for unequal numbers of sex chromosomes1-3.
Bowman, Sarah K. +9 more
core +1 more source
Structural insights into an engineered feruloyl esterase with improved MHET degrading properties
A feruloyl esterase was engineered to mimic key features of MHETase, enhancing the degradation of PET oligomers. Structural and computational analysis reveal how a point mutation stabilizes the active site and reshapes the binding cleft, expading substrate scope.
Panagiota Karampa +5 more
wiley +1 more source
Population variability in X-chromosome inactivation across 10 mammalian species
One of the two X-chromosomes in female mammals is epigenetically silenced in embryonic stem cells by X-chromosome inactivation. This creates a mosaic of cells expressing either the maternal or the paternal X allele.
Jonathan M. Werner +2 more
doaj +1 more source
ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation. [PDF]
ObjectiveWe aimed to generate a review and description of the phenotypic and genotypic spectra of ARHGEF9 mutations.MethodsPatients with mutations or chromosomal disruptions affecting ARHGEF9 were identified through our clinics and review of the ...
Alber, Michael +21 more
core
Noncoding RNAs and gene silencing [PDF]
Noncoding RNA has long been proposed to control gene expression via sequence-specific interactions with regulatory regions. Here, we review the role of noncoding RNA in heterochromatic silencing and in the silencing of transposable elements (TEs ...
Irvine, D. V. +2 more
core +1 more source

