Results 51 to 60 of about 328,618 (261)

X-inactivation by chromosomal pairing events [PDF]

open access: yesGenes & Development, 1999
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

Structural insights and therapeutic targets in Acinetobacter baumannii capsule biosynthesis

open access: yesFEBS Letters, EarlyView.
Hypervirulent KL49 A. baumannii's capsular polysaccharide contains the nonulosonic acid 8‐epi‐Leg5,7Ac2, synthesized by epimerization via ElaA, ElaB, and ElaC. Crystal structures of ElaA, ElaB, and ElaC reveal their role in CMP‐Leg5,7Ac2 synthesis and regioselective C8 epimerization.
Woo Cheol Lee   +7 more
wiley   +1 more source

Transcriptional changes in response to X chromosome dosage in the mouse: implications for X inactivation and the molecular basis of Turner Syndrome

open access: yesBMC Genomics, 2010
Background X monosomic mice (39,XO) have a remarkably mild phenotype when compared to women with Turner syndrome (45,XO). The generally accepted hypothesis to explain this discrepancy is that the number of genes on the mouse X chromosome which escape X ...
Sargent Carole A   +6 more
doaj   +1 more source

Coffin‐Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing

open access: yesClinical Case Reports, 2020
We report a Japanese girl with Coffin‐Lowry syndrome phenotype such as hypertelorism, hypodontia, and tapering fingers and 46,XX,t(X;11)(p22;p15)dn. Whole genome sequencing revealed RPS6KA3 disruption by the translocation, and X‐inactivation analysis ...
Kaori Yamoto   +7 more
doaj   +1 more source

Three phosphatase families form a community: The phosphohydrolases that act upon inositol pyrophosphates

open access: yesFEBS Letters, EarlyView.
Inositol pyrophosphates are energy‐rich signaling molecules that perform critical functions in cells. Three different families of phosphatases hydrolyze the β phosphate of the inositol pyrophosphate molecules: two have narrow specificities and one is promiscuous.
Ronda J. Rolfes
wiley   +1 more source

Modelling stem cell differentiation related processes—A practical overview for biologists

open access: yesFEBS Letters, EarlyView.
Stem cell differentiation is complex and difficult to control experimentally. This review introduces suitable computational modelling approaches that can support stem cell research, from mechanistic ODE and abstract models to multiscale and deep learning methods.
Ricco Zeegelaar   +4 more
wiley   +1 more source

Genetic and Epigenetic Factors Co-Influence the Severity of Phenotypic Presentations in Compound G6PD Mutations

open access: yesTurkish Journal of Hematology, 2022
Yee Yik Mot   +4 more
doaj   +1 more source

Mechanics and dynamics of X-chromosome pairing at X inactivation. [PDF]

open access: yesPLoS Computational Biology, 2008
At the onset of X-chromosome inactivation, the vital process whereby female mammalian cells equalize X products with respect to males, the X chromosomes are colocalized along their Xic (X-inactivation center) regions.
Antonio Scialdone, Mario Nicodemi
doaj   +1 more source

Peripheral lysosomes recruit PLEKHG3 to focal adhesions and restrain protrusion dynamics

open access: yesFEBS Letters, EarlyView.
Proximity‐dependent labeling at the LAMTOR complex revealed the Rho GEF PLEKHG3 as a lysosome‐proximal protein directing the study toward the influence of lysosome positioning on actin dynamics and cell motility. We show that PLEKHG3 colocalizes with lysosomes at focal adhesion sites and observe that forced peripheral dispersion of lysosomes hinders ...
Rainer Ettelt   +8 more
wiley   +1 more source

Cross-species examination of X-chromosome inactivation highlights domains of escape from silencing

open access: yesEpigenetics & Chromatin, 2021
Background X-chromosome inactivation (XCI) in eutherian mammals is the epigenetic inactivation of one of the two X chromosomes in XX females in order to compensate for dosage differences with XY males.
Bradley P. Balaton   +3 more
doaj   +1 more source

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