Results 111 to 120 of about 1,395,753 (295)

The newfound relationship between extrachromosomal DNAs and excised signal circles

FEBS Letters, EarlyView.
Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley   +1 more source

Metabolic cardiomyopathies: untangling clinical heterogeneity with human stem-cell derived models

EMBO Molecular Medicine
Inherited metabolic diseases are rare monogenic conditions that disrupt biochemical pathways, affecting energy production and homeostasis, often leading to damaging metabolite accumulation.
Adriana S Passadouro, Berith M Balfoort, Mirjam Langeveld, Clara D M van Karnebeek, Jolanda van der Velden, Riekelt H Houtkooper, Signe Mosegaard   +6 more
doaj   +1 more source

Sex differences in the genetic architecture of cognitive resilience to Alzheimer’s disease [PDF]

, 2022
Jaclyn M. Eissman, Logan Dumitrescu, Emily R. Mahoney, Alexandra N. Smith, Shubhabrata Mukherjee, Michael L. Lee, Phoebe Scollard, Seo Eun Choi, William S. Bush, Corinne D. Engelman, Qiongshi Lu, David W. Fardo, Emily H. Trittschuh, Jesse Mez, Catherine C. Kaczorowski, Hector Hernandez Saucedo, Keith F. Widaman, Rachel F. Buckley, Michael J Properzi, Elizabeth C. Mormino, Hyun Sik Yang, Theresa M. Harrison, Trey Hedden, Kwangsik Nho, Shea J. Andrews, Douglas Tommet, Niran Hadad, R. Elizabeth Sanders, Douglas M. Ruderfer, Katherine A. Gifford, Xiaoyuan Zhong, Neha Raghavan, Badri N. Vardarajan, Margaret A. Pericak‐Vance, Lindsay A. Farrer, Li San Wang, Carlos Cruchaga, Gerard D. Schellenberg, Nancy J. Cox, Jonathan L. Haines, C. Dirk Keene, Andrew J. Saykin, Eric B. Larson, Reisa A. Sperling, Richard Mayeux, Michael L. Cuccaro, David A. Bennett, Julie A. Schneider, Paul K. Crane, Angela L. Jefferson, Timothy J. Hohman, Angela L Jefferson, Timothy J Hohman   +52 more
openalex   +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

Fine mapping in the MHC region accounts for 18% additional genetic risk for celiac disease

, 2015
Javier Gutierrez‐Achury, Alexandra Zhernakova, Sara L. Pulit, Gosia Trynka, Karen A. Hunt, Jihane Romanos, Soumya Raychaudhuri, David A. van Heel, Cisca Wijmenga, Paul I. W. de Bakker   +9 more
openalex   +2 more sources

Mitochondrial diseases: expanding the diagnosis in the era of genetic testing

, 2020
Russell P. Saneto
openalex   +2 more sources

Decoding the complex genetic causes of heart diseases using systems biology [PDF]

, 2014
Djordje Djordjevic, Vinita Deshpande, Tomasz Szczesnik, Andrian Yang, David T. Humphreys, Eleni Giannoulatou, Joshua W. K. Ho   +6 more
openalex   +1 more source

Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines [PDF]

, 2022
Eleni Mavraki, Robyn Labrum, Kate Sergeant, Charlotte L. Alston, Cathy E. Woodward, Conrad Smith, Charlotte V. Y. Knowles, Yogen Patel, Philip Hodsdon, Jack P. Baines, Emma L. Blakely, James M. Polke, Robert W. Taylor, Carl Fratter   +13 more
openalex   +1 more source

Sequence determinants of RNA G‐quadruplex unfolding by Arg‐rich regions

FEBS Letters, EarlyView.
We show that Arg‐rich peptides selectively unfold RNA G‐quadruplexes, but not RNA stem‐loops or DNA/RNA duplexes. This length‐dependent activity is inhibited by acidic residues and is conserved among SR and SR‐related proteins (SRSF1, SRSF3, SRSF9, U1‐70K, and U2AF1).
Naiduwadura Ivon Upekala De Silva, Puspa Kunwar, Md Ibnul Rifat Rahman, Joanna Koryo Kwao, Nathan Lehman, Zihan Zhang, Trenton Paul, Claire Cheng, Nicholas Truex, Hui‐Ting Lee, Jun Zhang   +10 more
wiley   +1 more source

Editorial: Noncanonical functions of Aminoacyl-tRNA synthetases

Frontiers in Physiology, 2023
Litao Sun, Xiao-Long Zhou, Zhong-Wei Zhou, Haissi Cui   +3 more
doaj   +1 more source