Literature DB >> 26994527

X inactivation and reactivation in X-linked diseases.

Marcella Vacca1, Floriana Della Ragione2, Francesco Scalabrì3, Maurizio D'Esposito2.   

Abstract

X chromosome inactivation (XCI) is the phenomenon by which mammals compensate for dosage of X-linked genes in females (XX) versus males (XY). XCI patterns can be random or show extreme skewing, and can modify the mode of inheritance of X-driven phenotypes, which contributes to the variability of human pathologies. Recent findings have shown reversibility of the XCI process, which has opened new avenues in the approaches used for the treatment of X-linked diseases.
Copyright © 2016 Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  MECP2; Neurological diseases; Rett syndrome; X inactivation; X-linked diseases

Mesh:

Year:  2016        PMID: 26994527     DOI: 10.1016/j.semcdb.2016.03.009

Source DB:  PubMed          Journal:  Semin Cell Dev Biol        ISSN: 1084-9521            Impact factor:   7.727


  19 in total

1.  The Pathophysiology of Rett Syndrome With a Focus on Breathing Dysfunctions.

Authors:  Jan-Marino Ramirez; Marlusa Karlen-Amarante; Jia-Der Ju Wang; Nicholas E Bush; Michael S Carroll; Debra E Weese-Mayer; Alyssa Huff
Journal:  Physiology (Bethesda)       Date:  2020-11-01

2.  Directional X Chromosome Skewing of White Blood Cells from Subjects with Heterozygous Mosaicism for the Variant IRAK1 Haplotype.

Authors:  Patrick Morcillo; Yong Qin; Geber Peña; Anne C Mosenthal; David H Livingston; Zoltan Spolarics
Journal:  Inflammation       Date:  2020-02       Impact factor: 4.092

3.  Sex differences in the proliferation of pulmonary artery endothelial cells: implications for plexiform arteriopathy.

Authors:  Shanshan Qin; Dan N Predescu; Monal Patel; Patrick Drazkowski; Balaji Ganesh; Sanda A Predescu
Journal:  J Cell Sci       Date:  2020-05-14       Impact factor: 5.285

Review 4.  Nuclear and Cytoplasmatic Players in Mitochondria-Related CNS Disorders: Chromatin Modifications and Subcellular Trafficking.

Authors:  Matteo Gasparotto; Yi-Shin Lee; Alessandra Palazzi; Marcella Vacca; Francesco Filippini
Journal:  Biomolecules       Date:  2022-04-23

5.  Involvement of X-chromosome Reactivation in Augmenting Cancer Testis Antigens Expression: A Hypothesis.

Authors:  Chang Liu; Bin Luo; Xiao-Xun Xie; Xing-Sheng Liao; Jun Fu; Ying-Ying Ge; Xi-Sheng Li; Gao-Shui Guo; Ning Shen; Shao-Wen Xiao; Qing-Mei Zhang
Journal:  Curr Med Sci       Date:  2018-03-15

Review 6.  X-factors in human disease: impact of gene content and dosage regulation.

Authors:  He Fang; Xinxian Deng; Christine M Disteche
Journal:  Hum Mol Genet       Date:  2021-10-01       Impact factor: 5.121

7.  Up-Regulation of the Long Noncoding RNA X-Inactive-Specific Transcript and the Sex Bias in Pulmonary Arterial Hypertension.

Authors:  Shanshan Qin; Dan Predescu; Brandon Carman; Priyam Patel; Jiwang Chen; Miran Kim; Tim Lahm; Mark Geraci; Sanda A Predescu
Journal:  Am J Pathol       Date:  2021-04-06       Impact factor: 5.770

Review 8.  Genes that escape from X-chromosome inactivation: Potential contributors to Klinefelter syndrome.

Authors:  Maria Jose Navarro-Cobos; Bradley P Balaton; Carolyn J Brown
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-05-22       Impact factor: 3.908

9.  Contribution of genetic and epigenetic changes to escape from X-chromosome inactivation.

Authors:  Bradley P Balaton; Carolyn J Brown
Journal:  Epigenetics Chromatin       Date:  2021-06-29       Impact factor: 4.954

10.  miR-34a-mediated regulation of XIST in female cells under inflammation.

Authors:  Botros B Shenoda; Yuzhen Tian; Guillermo M Alexander; Enrique Aradillas-Lopez; Robert J Schwartzman; Seena K Ajit
Journal:  J Pain Res       Date:  2018-05-08       Impact factor: 3.133

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