Results 1 to 10 of about 317,261 (329)

X-Chromosome Inactivation and Related Diseases

Genetics Research, 2022
X-chromosome inactivation (XCI) is the form of dosage compensation in mammalian female cells to balance X-linked gene expression levels of the two sexes.
Zhuo Sun, Jinbo Fan, Yang Wang
doaj   +2 more sources

Altered X-chromosome inactivation predisposes to autoimmunity. [PDF]

Sci Adv
In mammals, males and females show marked differences in immune responses. Males are globally more sensitive to infectious diseases while females are more susceptible to systemic autoimmunity.
Huret C, Ferrayé L, David A, Mohamed M, Valentin N, Charlotte F, Savignac M, Goodhardt M, Guéry JC, Rougeulle C, Morey C.   +10 more
europepmc   +2 more sources

Loss of p53 Causes Stochastic Aberrant X-Chromosome Inactivation and Female-Specific Neural Tube Defects

Cell Reports, 2019
Summary: Neural tube defects (NTDs) are common birth defects in humans and show an unexplained female bias. Female mice lacking the tumor suppressor p53 display NTDs with incomplete penetrance. We found that the combined loss of pro-apoptotic BIM and p53
Alex R.D. Delbridge, Andrew J. Kueh, Francine Ke, Natasha M. Zamudio, Farrah El-Saafin, Natasha Jansz, Gao-Yuan Wang, Megan Iminitoff, Tamara Beck, Sue Haupt, Yifang Hu, Rose E. May, Lachlan Whitehead, Lin Tai, William Chiang, Marco J. Herold, Ygal Haupt, Gordon K. Smyth, Tim Thomas, Marnie E. Blewitt, Andreas Strasser, Anne K. Voss   +21 more
doaj   +2 more sources

Population variability in X-chromosome inactivation across 10 mammalian species [PDF]

Nature Communications
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, John Hover, Jesse Gillis   +2 more
doaj   +2 more sources

X chromosome inactivation during Drosophila spermatogenesis. [PDF]

PLoS Biology, 2007
Genes with male- and testis-enriched expression are under-represented on the Drosophila melanogaster X chromosome. There is also an excess of retrotransposed genes, many of which are expressed in testis, that have "escaped" the X chromosome and moved to ...
Winfried Hense, John F Baines, John Parsch   +2 more
doaj   +6 more sources

A Comparative Analysis of Mouse Imprinted and Random X-Chromosome Inactivation [PDF]

Epigenomes
The mammalian sexes are distinguished by the X and Y chromosomes. Whereas males harbor one X and one Y chromosome, females harbor two X chromosomes.
Rebecca M. Malcore, Sundeep Kalantry
doaj   +2 more sources

Female Fabry disease patients and X-chromosome inactivation. [PDF]

Gene, 2018
Fabry disease is an X-linked inherited lysosomal storage disorder caused by mutations in the gene encoding α- galactosidase A (GLA). Once it was thought to affect only hemizygous males.
Patrycja Juchniewicz, A. Kloska, A. Tylki-Szymańska, J. Jakóbkiewicz-Banecka, G. Węgrzyn, M. Moskot, M. Gabig-Cimińska, E. Piotrowska   +7 more
semanticscholar   +3 more sources

IndiSPENsable for X Chromosome Inactivation and Gene Silencing [PDF]

Epigenomes, 2023
For about 30 years, SPEN has been the subject of research in many different fields due to its variety of functions and its conservation throughout a wide spectrum of species, like worms, arthropods, and vertebrates.
Corinne Kaufmann, Anton Wutz
doaj   +2 more sources

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, Shafagh A Waters, Janine E Deakin, Jennifer A Marshall Graves, Paul D Waters   +4 more
doaj   +2 more sources

An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation [PDF]

Frontiers in Genetics
ObjectivesHemophilia A (HA) is an X-linked recessive inherited bleeding disorder that typically affects men. Women are usually asymptomatic carriers, and rarely presenting with severe or moderately severe phenotype.
Xiaoyan Tan, Yi Yang, Xia Wu, Jing Zhu, Teng Wang, Huihui Jiang, Shu Chen, Shifeng Lou   +7 more
doaj   +2 more sources