Results 61 to 70 of about 332,161 (328)

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
Andersson M, Baumstark A, Buonadonna AL, C.S. Nagarajappa, Callen DF, Charchar FJ, Fracarro M, Freije D, Gal A, Haaf T, Hsu TC, I. Hansmann, I. Palaniappan, Koiffmann CP, Ma NS, Maserati E, Matthey R, N. Chandra, P.M. Gopinath, R. Wimmer, Ried T, Schempp W, Schiebel K, Schmid M, Siffroi JP, Subrt I, Tiemeier DC, W. Schempp, Weber B, White LM   +29 more
core   +1 more source

Protein pyrophosphorylation by inositol pyrophosphates — detection, function, and regulation

FEBS Letters, EarlyView.
Protein pyrophosphorylation is an unusual signaling mechanism that was discovered two decades ago. It can be driven by inositol pyrophosphate messengers and influences various cellular processes. Herein, we summarize the research progress and challenges of this field, covering pathways found to be regulated by this posttranslational modification as ...
Sarah Lampe, Tanmay Kumar Mohanty, Rashna Bhandari, Dorothea Fiedler   +3 more
wiley   +1 more source

Population variability in X-chromosome inactivation across 10 mammalian species

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   +1 more source

Methylation Status of Imprinted Genes and Repetitive Elements in Sperm DNA from Infertile Males [PDF]

, 2011
Stochastic, environmentally and/or genetically induced disturbances in the genome-wide epigenetic reprogramming processes during male germ-cell development may contribute to male infertility.
El Hajj, N., Gromoll, J., Haaf, T., Hahn, T., Schneider, E., Schorsch, M., Tresch, A., Zechner, Ulrich   +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

IndiSPENsable for X Chromosome Inactivation and Gene Silencing

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   +1 more source

Genome sequence of an Australian kangaroo, Macropus eugenii, provides insight into the evolution of mammalian reproduction and development. [PDF]

, 2011
BACKGROUND: We present the genome sequence of the tammar wallaby, Macropus eugenii, which is a member of the kangaroo family and the first representative of the iconic hopping mammals that symbolize Australia to be sequenced.
Al Nadaf, Shafagh, Beal, Kathryn, Belov, Katherine, Carone, Dawn M, Chen, Lei, Chew, Keng Yih, Cocks, Benjamin G, Cooper, Desmond W, Cree, Andrew, Davis, John, Deakin, Janine E, Delbridge, Margaret L, Deng, Jixin, Dinh, Huyen H, Edson, Janette, Fairley, Susan, Feng, Zhi-Ping, Ferguson-Smith, Malcolm, Flicek, Paul, Forrest, Susan M, Fowler, Gerald, Frankenberg, Stephen R, Fujiyama, Asao, Gibbs, Richard A, Graves, Jennifer AM, Hall, Allison, Hazar-Rethinam, Mehlika, Heider, Thomas, Herrero, Javier, Hickford, Danielle, Hore, Timothy A, Hsu, Arthur, Hu, Yanqiu, Jhangiani, Shalini N, Jing, Chyn, Joshi, Vandita, Kondo, Shinji, Kovar, Christie L, Kuczek, Elizabeth, Kuroki, Yoko, Lansdell, Benjamin, Lara, Fremiet, Lefèvre, Christophe M, Levchenko, Tanya, Lewis, Lora R, Lindsay, James, Liu, Yue, Mandiou, Ion, McColl, Kaighin A, McGrath, Annette, Men, Artem, Menzies, Brandon R, Mohammadi, Amir, Morgan, Margaret B, Muzny, Donna M, Nazareth, Lynne, Nicholas, Frank W, Nicholas, Kevin R, Nishida, Yuichiro, O'Hara, William, O'Neill, Rachel J, Okwuonu, Geoffrey O, Papenfuss, Anthony T, Pask, Andrew J, Patel, Hardip R, Pharo, Elizabeth A, Renfree, Marilyn B, Rens, Willem, Ruiz, San Juana, Sakaki, Yoshiyuki, Santibanez, Jireh, Schneider, Nanette Y, Searle, Stephen MJ, Shaw, Geoff, Shen, Joshua Y, Short, Kirsty R, Siddle, Hannah V, Song, Xing-Zhi, Speed, Terence P, Stephens, Amber, Stringer, Jessica M, Sugano, Sumio, Sundaravadanam, Yogi, Suzuki, Shunsuke, Suzuki, Yutaka, Tatsumoto, Shoji, Thomas, Daniel, Thornton, Rebecca, Toyoda, Atsushi, Troon, Carmen, Wakefield, Matthew J, Wang, Chenwei, Wang, Jianghui, Waters, Paul D, Weinstock, George, Williams, Sarah, Wilson, Peter, Wong, Emily SW, Wood, David, Worley, Kim C, Wu, Chen, Yapa, Lankesha, Yu, Hongshi, Zenger, Kyall R   +103 more
core   +13 more sources

PARP inhibitors elicit distinct transcriptional programs in homologous recombination competent castration‐resistant prostate cancer

Molecular Oncology, EarlyView.
PARP inhibitors are used to treat a small subset of prostate cancer patients. These studies reveal that PARP1 activity and expression are different between European American and African American prostate cancer tissue samples. Additionally, different PARP inhibitors cause unique and overlapping transcriptional changes, notably, p53 pathway upregulation.
Moriah L. Cunningham, Jasibel Vasquez‐Gonzalez, Samantha M. Barnada, Salome Tchotorlishvili, Latese Jones, Ryan Maguire, Genevieve Lewis, Kinza Rizwan, Jenny Deng, Salma Koachar, Drithi Patel, Hailey Shankle, Tessa Mulders, Namra Ajmal, Charalambos Solomides, Emad S. Alnemri, Teresa F. Alnemri, Ayesha A. Shafi, Leonard G. Gomella, Wm Kevin Kelly, Steven B. McMahon, Matthew J. Schiewer   +21 more
wiley   +1 more source

Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy

Molecular Cytogenetics, 2009
Background Pentasomy X (49,XXXXX) has been associated with a severe clinical condition, presumably resulting from failure or disruption of X chromosome inactivation. Here we report that some human X chromosomes from a patient with 49,XXXXX pentasomy were
Menezes Albert N, Moreira Miguel AM, Moura Vera LS, Cardoso Leila CA, Moraes Lucia M, Llerena Juan C, Seuánez Héctor N   +6 more
doaj   +1 more source

Coffin‐Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing

Clinical Case Reports, 2020
We report a Japanese girl with Coffin‐Lowry syndrome phenotype such as hypertelorism, hypodontia, and tapering fingers and 46,XX,t(X;11)(p22;p15)dn. Whole genome sequencing revealed RPS6KA3 disruption by the translocation, and X‐inactivation analysis ...
Kaori Yamoto, Hirotomo Saitsu, Yasuko Fujisawa, Fumiko Kato, Keiko Matsubara, Maki Fukami, Masayo Kagami, Tsutomu Ogata   +7 more
doaj   +1 more source