Results 51 to 60 of about 317,261 (329)

Chromosome territories, X;Y translocation and Premature Ovarian Failure: is there a relationship? [PDF]

, 2009
Background Premature ovarian failure (POF) is a secondary hypergonadotrophic amenorrhea occurring before the age of 40 and affecting 1-3% of females.
Sara Lissoni, Simona Baronchelli, Nicoletta Villa, Valeria Lucchini, Enrico Betri, Pietro Cavalli, Leda Dalprà   +6 more
core   +2 more sources

Clinical expression of Menkes disease in females with normal karyotype

Orphanet Journal of Rare Diseases, 2012
Background Menkes Disease (MD) is a rare X-linked recessive fatal neurodegenerative disorder caused by mutations in the ATP7A gene, and most patients are males.
Møller Lisbeth, Lenartowicz Malgorzata, Zabot Marie-Therese, Josiane Arnaud, Burglen Lydie, Bennett Chris, Riconda Daniel, Fisher Richard, Janssens Sandra, Mohammed Shehla, Ausems Margreet, Tümer Zeynep, Horn Nina, Jensen Thomas G   +13 more
doaj   +1 more source

X chromosome inactivation, X-linked disorders, and cancer

Frontiers in Genetics
X chromosome inactivation is an essential process that compensates for gene dosage differences between men and women. During early embryogenesis, one of the two X chromosomes in females is randomly selected for transcriptional silencing, inactivating ...
Consuelo Salas-Labadía, Patricia Pérez-Vera, Fernando Gómez-Chávez, Ximena Pérez Baena, Daniel Martínez Anaya, Jorge Colín Rubio, María del Pilar Navarrete-Meneses   +6 more
doaj   +1 more source

The role of Xist‐mediated Polycomb recruitment in the initiation of X‐chromosome inactivation

EMBO Reports, 2019
Xist RNA has been established as the master regulator of X‐chromosome inactivation (XCI) in female eutherian mammals, but its mechanism of action remains unclear.
Aurélie Bousard, A. C. Raposo, J. J. Żylicz, Christel Picard, Vanessa Borges Pires, Yanyan Qi, C. Gil, L. Syx, Howard Y. Chang, E. Heard, S. T. da Rocha   +10 more
semanticscholar   +1 more source

Conversion of random X-inactivation to imprinted X-inactivation by maternal PRC2

eLife, 2019
Imprinted X-inactivation silences genes exclusively on the paternally-inherited X-chromosome and is a paradigm of transgenerational epigenetic inheritance in mammals. Here, we test the role of maternal vs.
Clair Harris, Marissa Cloutier, Megan Trotter, Michael Hinten, Srimonta Gayen, Zhenhai Du, Wei Xie, Sundeep Kalantry   +7 more
doaj   +1 more source

Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis. [PDF]

, 2015
Methylation of the fragile X mental retardation 1 (FMR1) exon 1/intron 1 boundary positioned fragile X related epigenetic element 2 (FREE2), reveals skewed X-chromosome inactivation (XCI) in fragile X syndrome full mutation (FM: CGG > 200) females ...
Amor, David J, Bui, Quang M, Francis, David, Godler, David E, Hagerman, Randi J, Herlihy, Amy S, Hopper, John L, Inaba, Yoshimi, Li, Xin, Metcalfe, Sylvia A, Schwartz, Charles E, Shi, Elva Z, Skinner, Cindy, Slater, Howard R   +13 more
core   +2 more sources

X-chromosome inactivation and escape [PDF]

Journal of Genetics, 2015
X-chromosome inactivation, which was discovered by Mary Lyon in 1961 results in random silencing of one X chromosome in female mammals. This review is dedicated to Mary Lyon, who passed away last year. She predicted many of the features of X inactivation, for e.g., the existence of an X inactivation center, the role of L1 elements in spreading of ...
CHRISTINE M. DISTECHE, JOEL B. BERLETCH
openaire   +2 more sources

Dicer regulates Xist promoter methylation in ES cells indirectly through transcriptional control of Dnmt3a

Epigenetics & Chromatin, 2008
Background X chromosome inactivation is the mechanism used in mammals to achieve dosage compensation of X-linked genes in XX females relative to XY males. Chromosome silencing is triggered in cis by expression of the non-coding RNA Xist. As such, correct
Nesterova Tatyana B, Popova Bilyana C, Cobb Bradley S, Norton Sara, Senner Claire E, Tang Y Amy, Spruce Thomas, Rodriguez Tristan A, Sado Takashi, Merkenschlager Matthias, Brockdorff Neil   +10 more
doaj   +1 more source

Xist and Tsix transcription dynamics is regulated by the X-to-autosome ratio and semistable transcriptional states [PDF]

, 2016
In female mammals, X chromosome inactivation (XCI) is a key process in the control of gene dosage compensation between Xlinked genes and autosomes.
Berge, D. (Derk) ten, Gribnau, J.H. (Joost), Grootegoed, J.A. (Anton), Kremers, G.J. (Gert-Jan), Lehmann, J. (Johannes), Loda, A. (Agnese), Loos, F. (Friedemann), Maduro, C.M. (Cheryl)   +7 more
core   +1 more source

In situ molecular organization and heterogeneity of the Legionella Dot/Icm T4SS

FEBS Letters, EarlyView.
We present a nearly complete in situ model of the Legionella Dot/Icm type IV secretion system, revealing its central secretion channel and identifying new components. Using cryo‐electron tomography with AI‐based modeling, our work highlights the structure, variability, and mechanism of this complex nanomachine, advancing understanding of bacterial ...
Przemysław Dutka, Yuxi Liu, Stefano Maggi, Debnath Ghosal, Jue Wang, Prashant P. Damke, Stephen D. Carter, Wei Zhao, Sukhithasri Vijayrajratnam, Joseph P. Vogel, Carrie L. Shaffer, Grant J. Jensen   +11 more
wiley   +1 more source