Results 61 to 70 of about 1,695,985 (356)

Insights into PI3K/AKT signaling in B cell development and chronic lymphocytic leukemia

FEBS Letters, EarlyView.
This Review explores how the phosphoinositide 3‐kinase and protein kinase B pathway shapes B cell development and drives chronic lymphocytic leukemia, a common blood cancer. It examines how signaling levels affect disease progression, addresses treatment challenges, and introduces novel experimental strategies to improve therapies and patient outcomes.
Maike Buchner
wiley   +1 more source

Analysis of rare copy number variation in absence epilepsies. [PDF]

, 2016
OBJECTIVE: To identify shared genes and pathways between common absence epilepsy (AE) subtypes (childhood absence epilepsy [CAE], juvenile absence epilepsy [JAE], and unclassified absence epilepsy [UAE]) that may indicate common mechanisms for absence ...
Addis, L, Everett, KV, Makoff, A, Nashef, L, Pal, DK, Robinson, R, Rosch, RE, Valentin, A   +7 more
core   +3 more sources

Diagnostic implications of genetic copy number variation in epilepsy plus

Epilepsia, 2019
Copy number variations (CNVs) represent a significant genetic risk for several neurodevelopmental disorders including epilepsy. As knowledge increases, reanalysis of existing data is essential. Reliable estimates of the contribution of CNVs to epilepsies
A. Coppola, E. Cellini, Hannah Stamberger, Elmo Saarentaus, V. Cetica, Dennis Lal, T. Djémié, Magdalena Bartnik-Głaska, B. Ceulemans, J. Helen Cross, T. Deconinck, S. Masi, T. Dorn, R. Guerrini, D. Hoffman-Zacharska, F. Kooy, L. Lagae, N. Lench, J. Lemke, E. Lucenteforte, F. Madia, H. Mefford, D. Morrogh, P. Nuernberg, A. Palotie, A. Schoonjans, P. Striano, E. Szczepanik, A. Tostevin, J. Vermeesch, H. Van Esch, W. van Paesschen, J. Waters, S. Weckhuysen, F. Zara, P. Jonghe, S. Sisodiya, C. Marini, Anna‐Elina Dana Tiina Hande Jose Katalin Rikke S. Helle Holge Lehesjioki Craiu Talvik Caglayan Serratosa Sterbov, Anna‐Elina Lehesjioki, D. Craiu, T. Talvik, H. Caglayan, J. Serratosa, K. Štěrbová, R. Møller, H. Hjalgrim, H. Lerche, Y. Weber, I. Helbig, S. von Spiczak, Carmen Barba, A. Bogaerts, A. Boni, E. Galizia, S. Chiari, Gianpiero Di Gacomo, Annarita Ferrari, S. Guarducci, S. Giglio, Philip Holmgren, C. Leu, F. Melani, F. Novara, M. Pantaleo, Elke Peeters, T. Pisano, A. Rosati, J. Sander, N. Schoeler, P. Stankiewicz, S. Striano, A. Suls, M. Traverso, G. Vandeweyer, Anke Van Dijck, O. Zuffardi   +76 more
semanticscholar   +1 more source

The power of microRNA regulation—insights into immunity and metabolism

FEBS Letters, EarlyView.
MicroRNAs are emerging as crucial regulators at the intersection of metabolism and immunity. This review examines how miRNAs coordinate glucose and lipid metabolism while simultaneously modulating T‐cell development and immune responses. Moreover, it highlights how cutting‐edge artificial intelligence applications can identify miRNA biomarkers ...
Stefania Oliveto, Nicola Manfrini, Stefano Biffo   +2 more
wiley   +1 more source

Mapping Copy Number Variation by Population Scale Genome Sequencing [PDF]

, 2011
Genomic structural variants (SVs) are abundant in humans, differing from other forms of variation in extent, origin and functional impact. Despite progress in SV characterization, the nucleotide resolution architecture of most SVs remains unknown.
Altshuler, David Matthew, Ambrogio, Lauren, Ball, Aaron D., Banks, Eric, Bloom, Toby, Bloom, Toby, Browning, Brian L., Cibulskis, Kristian, Daly, Mark Joseph, DePristo, Mark A., DePristo, Mark A., Fennell, Tim J., Gabriel, Stacey B., Garimella, Kiran V., Grossman, Sharon Rachel, Handsaker, Robert E, Handsaker, Robert E, Hanna, Matt, Hartl, Chris, Jaffe, David B., Kernytsky, Andrew M., Korn, Joshua, Lander, Eric Steven, Lee, Charles, Li, Heng, Maguire, Jared R., McCarroll, Steven A., McKenna, Aaron, Mills, Ryan Edward, Nemesh, James, Philippakis, Anthony Andrew, Poplin, Ryan E., Price, Alkes, Rivas, Manuel A., Sabeti, Pardis Christine, Schaffner, Stephen, Shefler, Erica, Shi, Xinghua, Shlyakhter, Ilya, Sougnez, Carrie L., Wilkinson, Jane   +40 more
core   +1 more source

Genetic copy number variation and general cognitive ability.

PLoS ONE, 2012
Differences in genomic structure between individuals are ubiquitous features of human genetic variation. Specific copy number variants (CNVs) have been associated with susceptibility to numerous complex psychiatric disorders, including attention-deficit ...
Andrew K MacLeod, Gail Davies, Antony Payton, Albert Tenesa, Sarah E Harris, David Liewald, Xiayi Ke, Michelle Luciano, Lorna M Lopez, Alan J Gow, Janie Corley, Paul Redmond, Geraldine McNeill, Andrew Pickles, William Ollier, Michael Horan, John M Starr, Neil Pendleton, Pippa A Thomson, David J Porteous, Ian J Deary   +20 more
doaj   +1 more source

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations

bioRxiv, 2019
Purpose Current sequencing strategies can genetically solve 55–60% of inherited retinal degeneration (IRD) cases, despite recent progress in sequencing.
Erin Zampaglione, Benyam Kinde, E. Place, D. Navarro-Gomez, Matthew Maher, Farzad Jamshidi, Sherwin Nassiri, J. A. Mazzone, C. Finn, Dana Schlegel, J. Comander, Eric A. Pierce, K. Bujakowska   +12 more
semanticscholar   +1 more source

Social context prevents heat hormetic effects against mutagens during fish development

FEBS Letters, EarlyView.
This study shows that sublethal heat stress protects fish embryos against ultraviolet radiation, a concept known as ‘hormesis’. However, chemical stress transmission between fish embryos negates this protective effect. By providing evidence for the mechanistic molecular basis of heat stress hormesis and interindividual stress communication, this study ...
Lauric Feugere, Claudio Silva De Freitas, Adam Bates, Kenneth B. Storey, Pedro Beltran‐Alvarez, Katharina C. Wollenberg Valero   +5 more
wiley   +1 more source

Population Structure Shapes Copy Number Variation in Malaria Parasites. [PDF]

, 2015
If copy number variants (CNVs) are predominantly deleterious, we would expect them to be more efficiently purged from populations with a large effective population size (Ne) than from populations with a small Ne. Malaria parasites (Plasmodium falciparum)
Amambua-Ngwa, Alfred, Anderson, Tim JC, Branch, Oralee H, Cheeseman, Ian H, Conway, David J, De Donato, Marcos, Dondorp, Arjen, Ferdig, Michael T, Mayxay, Mayfong, Mesia, Lastenia Ruiz, Miller, Becky, Nair, Shalini, Newton, Paul, Nkhoma, Standwell C, Nosten, François, Rodulfo, Hectorina, Tan, Asako, Tan, John C   +17 more
core   +1 more source

MONTAGE: a new tool for high-throughput detection of mosaic copy number variation

BMC Genomics, 2021
Background Not all cells in a given individual are identical in their genomic makeup. Mosaicism describes such a phenomenon where a mixture of genotypic states in certain genomic segments exists within the same individual.
Joseph T. Glessner, Xiao Chang, Yichuan Liu, Jin Li, Munir Khan, Zhi Wei, Patrick M. A. Sleiman, Hakon Hakonarson   +7 more
doaj   +1 more source