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1.
Phys Rev E ; 106(3-1): 034604, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-36266804

RESUMO

We characterize a system of hard spheres with a simple collision rule that breaks time-reversal symmetry but conserves energy. The collisions lead to an achiral, isotropic, and homogeneous stationary state whose properties are determined in simulations and compared to an approximate theory originally developed for elastic hard spheres. In the nonequilibrium fluid state, velocities are correlated, a phenomenon known from other nonequilibrium stationary states. The correlations are long-ranged decaying like 1/r^{D} in D dimensions. Such correlations are expected on general grounds far from equilibrium and had previously been observed in driven or nonstationary systems.

2.
Trends Genet ; 38(9): 920-943, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35248405

RESUMO

The human X-chromosome harbors only 4% of our genome but carries over 20% of genes associated with intellectual disability. Given that they inherit only one X-chromosome, males are more frequently affected by X-linked neurodevelopmental genetic disorders than females. However, despite inheriting two X-chromosomes, females can also be affected because X-chromosome inactivation enables only one of two X-chromosomes to be expressed per cell. For Rett syndrome and similar X-linked disorders affecting females, disease-specific treatments have remained elusive. However, a cure may be found within their own cells because every sick cell carries a healthy copy of the affected gene on the inactive X (Xi). Therefore, selective Xi reactivation may be a viable approach that would address the root cause of various X-linked disorders. Here, we discuss Rett syndrome and compare current approaches in the pharmaceutical pipeline to restore MECP2 function. We then focus on Xi reactivation and review available methods, lessons learned, and future directions.


Assuntos
Deficiência Intelectual , Síndrome de Rett , Cromossomos Humanos X/genética , Feminino , Humanos , Deficiência Intelectual/genética , Masculino , Proteína 2 de Ligação a Metil-CpG/genética , Proteína 2 de Ligação a Metil-CpG/metabolismo , Mutação , Síndrome de Rett/genética , Inativação do Cromossomo X/genética
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