Results 21 to 30 of about 6,021,091 (244)

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   +1 more source

Single-cell analysis reveals X upregulation is not global in pre-gastrulation embryos

iScience, 2022
Summary: In mammals, transcriptional inactivation of one X chromosome in female compensates for the dosage of X-linked gene expression between the sexes.
Hemant Chandru Naik, Kishore Hari, Deepshikha Chandel, Mohit Kumar Jolly, Srimonta Gayen   +4 more
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Cell lineage specific distribution of H3K27 trimethylation accumulation in an in vitro model for human implantation [PDF]

, 2012
Female mammals inactivate one of their two X-chromosomes to compensate for the difference in gene-dosage with males that have just one X-chromosome. X-chromosome inactivation is initiated by the expression of the non-coding RNA Xist, which coats the X ...
Weimar, Charlotte H. E., Weimar, C.H., Heijnen Cobi J., Kuijk Ewart W., Kuijk, E.W., Fauser, B.C., Lopes, S.M.C.D., Bart C J M Fauser, Ewart W Kuijk, Geijsen Niels, Weimar Charlotte H. E., Macklon Nick, Kuijk, Ewart W., Teklenburg, G., Fauser Bart C. J. M., Susana M Chuva de Sousa Lopes, Macklon, N., Teklenburg Gijs, Macklon, Nick, Niels Geijsen, Lopes, S.M., Weimar, C.H.E., Fauser, Bart C. J. M., Teklenburg, Gijs, Geijsen, Niels, Nick Macklon, Geijsen, N., Cobi J Heijnen, Charlotte H E Weimar, Heijnen, Cobi J., Fauser, B.C.J.M., Heijnen, C.J., Chuva de Sousa Lopes Susana M., Chuva de Sousa Lopez, Susana M., Gijs Teklenburg   +34 more
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A family case of fertile human 45,X,psu dic(15;Y) males [PDF]

, 2006
We report on a familial case including four male probands from three generations with a 45,X,psu dic(15;Y)(p11.2;q12) karyotype. 45,X is usually associated with a female phenotype and only rarely with maleness, due to translocation of small Y chromosomal
P.M. Gopinath, Hansmann, Ingo, I. Hansmann, Schempp, Werner, Wimmer, R., Palaniappan, I., Wimmer, Rainer, W. Schempp, I. Palaniappan, Palaniappan, Ilayaraja, Gopinath, P. M., N. Chandra, Hansmann, I., Chandra, N., Nagarajappa, C. S., R. Wimmer, C.S. Nagarajappa, Schempp, W.   +17 more
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Rlim/Rnf12, Rex1, and X Chromosome Inactivation

Frontiers in Cell and Developmental Biology, 2019
RLIM/Rnf12 is an E3 ubiquitin ligase that has originally been identified as a transcriptional cofactor associated with LIM domain transcription factors.
Feng Wang, Ingolf Bach
doaj   +1 more source

Generation and characterization of rat and mouse monoclonal antibodies specific for MeCP2 and their use in X-inactivation studies [PDF]

, 2011
Methyl CpG binding protein 2 (MeCP2) binds DNA, and has a preference for methylated CpGs and, hence, in cells, it accumulates in heterochromatin. Even though it is expressed ubiquitously MeCP2 is particularly important during neuronal maturation. This is
Rottach Andrea, Jost, K.L., Becker, Annette, Andrea Rottach, Leonhardt, Heinrich, Becker, A., Manel Esteller, Esteller, Manel, K Laurence Jost, Wolf, P., Jost K. Laurence, Wolf, Patricia, Cardoso, M. Cristina, Leonhardt Heinrich, Paolo Petazzi, Huertas Dori, Annette Becker, Cardoso M. Cristina, Patricia Wolf, Milden Manuela, Wolf Patricia, Esteller Manel, K. Laurence Jost, Bertulat Bianca, Dori Huertas, Milden, M., Huertas, D., Juan Sandoval, Bianca Bertulat, Sandoval, Juan, M. Cristina Cardoso, Bertulat, B., Kremmer Elisabeth, Petazzi Paolo, Milden, Manuela, Huertas, Dori, Becker Annette, Rottach, A., Jost, K. Laurence, Sandoval, J., Esteller, M., Kremmer, E., Manuela Milden, Kremmer, Elisabeth, Cardoso, M.C., Heinrich Leonhardt, Sandoval Juan, Petazzi, Paolo, Petazzi, P., M Cristina Cardoso, Bertulat, Bianca, Rottach, Andrea, Elisabeth Kremmer, Leonhardt, H.   +53 more
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Stochastic gene expression and chromosome interactions in protecting the human active X from silencing by XIST

Nucleus, 2021
Mammals use X chromosome inactivation to compensate for the sex difference in numbers of X chromosomes. A relatively unexplored question is how the active X is protected from inactivation by its own XIST gene, the long non-coding RNA, which initiates ...
Barbara R. Migeon
doaj   +1 more source

Differences of size and shape of active and inactive X-chromosome domains in human amniotic fluid cell nuclei [PDF]

, 1993
It is a widely held belief that the inactive X-chromosome (Xi) in female cell nuclei is strongly condensed as compared to the largely decondensed active X-chromosome (Xa).
Cremer, Thomas, Stelzer, Ernst, Bischoff, A., T. Cremer, Cremer, Christoph, I. Kharboush, C. Cremer, Kharboush, I., J. Albers, E. Stelzer, Schmidt, J., A. Bischoff   +11 more
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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   +1 more source

Statistical mechanics of genome regulation: the case of X chromosome inactivation [PDF]

, 2010
The aim of my PhD research project was to discover the mechanisms behind X Chromosome Inactivation (XCI) one of the most intriguing issues of the current mammalian Biology.
Scialdone, Antonio
core   +1 more source