Results 21 to 30 of about 6,305,601 (337)

Integrated functional genomic analyses of Klinefelter and Turner syndromes reveal global network effects of altered X chromosome dosage

Proceedings of the National Academy of Sciences of the United States of America, 2020
Significance Turner syndrome (TS) is caused by having only one X chromosome (X0), and Klinefelter syndrome (KS) by having two X chromosomes and one Y chromosome (XXY).
Xianglong Zhang, D. Hong, Shining Ma, Thomas Ward, Marcus Ho, Reenal Pattni, Zhana Duren, Atanas D. Stankov, Sharon Bade Shrestha, J. Hallmayer, W. Wong, A. Reiss, A. Urban   +12 more
semanticscholar   +1 more source

X chromosome and suicide [PDF]

Molecular Psychiatry, 2009
Suicide completion rates are significantly higher in males than females in most societies. Although gender differences in suicide rates have been partially explained by environmental and behavioral factors, it is possible that genetic factors, through differential expression between genders, may also help explain gender moderation of suicide risk. This
Hana Zouk, Laura M. Fiori, C. Himmelman, Gustavo Turecki   +3 more
openaire   +3 more sources

Condensin-Driven Remodeling of X-Chromosome Topology during Dosage Compensation

Nature, 2015
The three-dimensional organization of a genome plays a critical role in regulating gene expression, yet little is known about the machinery and mechanisms that determine higher-order chromosome structure.
Emily Crane, Qian Bian, R. McCord, B. Lajoie, Bayly S. Wheeler, E. Ralston, S. Uzawa, J. Dekker, B. Meyer   +8 more
semanticscholar   +1 more source

Female human primordial germ cells display X-chromosome dosage compensation despite the absence of X-inactivation

Nature Cell Biology, 2020
X-chromosome dosage compensation in female placental mammals is achieved by X-chromosome inactivation (XCI). Human pre-implantation embryos are an exception, in which dosage compensation occurs by X-chromosome dampening (XCD).
Tsotne Chitiashvili, I. Dror, Rachel Kim, Fei-Man Hsu, Rohan Chaudhari, Erica C. Pandolfi, Di Chen, Simone Liebscher, K. Schenke-Layland, K. Plath, A. Clark   +10 more
semanticscholar   +1 more source

X chromosome drive [PDF]

Current Biology, 2008
I'd like to thank Catherine Montchamp-Moreau and Yun Tao for helpful comments on the manuscript.
openaire   +3 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   +1 more source

Telomere-to-telomere assembly of a complete human X chromosome

bioRxiv, 2019
After two decades of improvements, the current human reference genome (GRCh38) is the most accurate and complete vertebrate genome ever produced. However, no single chromosome has been finished end to end, and hundreds of unresolved gaps persist 1 , 2 ...
K. Miga, S. Koren, A. Rhie, Mitchell R. Vollger, Ariel Gershman, Andrey V. Bzikadze, Shelise Y. Brooks, Edmund Howe, David Porubsky, Glennis A. Logsdon, Valerie A. Schneider, T. Potapova, J. Wood, W. Chow, J. Armstrong, J. Fredrickson, E. Pak, Kristof Tigyi, Milinn Kremitzki, C. Markovic, V. Maduro, A. Dutra, G. Bouffard, Alexander M. Chang, Nancy F. Hansen, F. Thibaud-Nissen, A. Schmitt, Jon-Matthew Belton, Siddarth Selvaraj, M. Dennis, Daniela C. Soto, Ruta Sahasrabudhe, Gulhan Kaya, J. Quick, N. Loman, N. Holmes, M. Loose, U. Surti, R. Risques, Tina A. Graves Lindsay, R. Fulton, Ira M. Hall, B. Paten, K. Howe, W. Timp, Alice C. Young, J. Mullikin, P. Pevzner, J. Gerton, B. Sullivan, E. Eichler, A. Phillippy   +51 more
semanticscholar   +1 more source

Genes that escape from X‐chromosome inactivation: Potential contributors to Klinefelter syndrome

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
One of the two X chromosomes in females is epigenetically inactivated, thereby compensating for the dosage difference in X‐linked genes between XX females and XY males.
Maria Jose Navarro-Cobos, Bradley P. Balaton, Carolyn J. Brown   +2 more
semanticscholar   +1 more source

Monosomy for the X chromosome [PDF]

Chromosome Research, 2009
Dosage compensation serves to equalize X chromosome gene expression in mammalian males and females and involves extensive silencing of the 2nd X chromosome in females. If dosage compensation mechanisms completely suppressed the 2nd X chromosome, then actual physical loss of this "eXtra" chromosome should have few consequences.
Clara M. Cheng, Carolyn A. Bondy
openaire   +3 more sources

A case of acute lymphoblastic leukemia with additional chromosomes X and 5 associated with a Philadelphia chromosome in the bone marrow

Turkish Journal of Hematology, 2010
We report herein a very rare case of acute lymphoblastic leukemia having a chromosomal constitution of 48,XY,+X,+5,t(9;22)(q34;q11) in the bone marrow.
Burak Durmaz, Asude Alpman Durmaz, Emin Karaca, Güray Saydam, Özgür Çoğulu, Ferda Özkınay   +5 more
doaj   +3 more sources