Results 41 to 50 of about 83,934 (227)

Dynamics of DNA-repair factors and chromosomes studied by laser-UVA-microirradiation and laser-photobleaching [PDF]

, 2003
Modern light microscopical techniques were employed to follow dynamical nuclear processes during the cell cycle and during DNA-repair. Laser-UVA-microirradiation The protein Rad51 is essential for the repair of double-strand breaks (DSBs) via the ...
Walter, Joachim
core  

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Identification of candidate genes for dyslexia susceptibility on chromosome 18

, 2010
Background: Six independent studies have identified linkage to chromosome 18 for developmental dyslexia or general reading ability. Until now, no candidate genes have been identified to explain this linkage.
Olson, R K, Pennington Bruce F., Anthony P. Monaco, Pennington, B F, Scerri, TS, Alex J. Richardson, Smith, SD, Talcott, J, Richard K. Olson, Alex J Richardson, MacPhie, I L, Joel Talcott, Bruce F Pennington, Stein, J, Monaco, AP, Morris Andrew, Pennington, BF, Olson Richard K., Silvia Paracchini, Macphie, IL, DeFries, J C, Anthony P Monaco, Thomas S Scerri, Smith, Shelley D., Richardson, Alex J., Olson, RK, I Laurence MacPhie, Stein, John, Shelley D. Smith, Pennington, Bruce F., Monaco, Anthony P., Defries, JC, Paracchini, Silvia, John Stein, Stein, John F., Scerri Thomas S., MacPhie I. Laurence, Talcott, Joel B., I. Laurence MacPhie, Richardson, Alexandra, Monaco, Anthony, Andrew Morris, John C. DeFries, Talcott Joel, Morris, Andrew, Smith, S D, Smith Shelley D., Talcott, Joel, Bruce F. Pennington, Monaco Anthony P., Olson, Richard K., MacPhie, I. Laurence, Morris, A, Richardson, AJ, Paracchini, S, DeFries, John C., DeFries John C., Shelley D Smith, Stein John, John C DeFries, Monaco, A P, Richard K Olson, Paracchini Silvia, Thomas S. Scerri, Scerri, Thomas S., Scerri, T S   +65 more
core   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Spatial and Volumetric Characteristics of Glioblastoma: Associations With Clinical Presentation and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou, Marc Jaskir, Julian Gal, Yombe Fonkeu, Christos Davatzikos, MacLean P. Nasrallah, Jose Garcia, Rubo Xing, Stephen J. Bagley, Arati Desai, Richard E. Phillips, Steven Tobochnik, Colin A. Ellis, James J. Gugger, Nishant Sinha, Joel M. Stein, Kathryn A. Davis   +16 more
wiley   +1 more source

Chromosomal Instability Drives Glioblastoma Heterogeneity and Therapeutic Opportunities

Advanced Science, EarlyView.
ABSTRACT Glioblastoma, the most aggressive and lethal form of brain cancer, is defined by profound genomic instability, with Chromosomal Instability (CIN) playing a central role in driving tumor progression, therapy resistance, and poor prognosis. CIN is characterized by numerical and structural alterations, is driven by mechanisms such as mitotic ...
Amarnath Pal, Milan Patra, Rianita Mondal, Shubhasis Haldar   +3 more
wiley   +1 more source

Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline

, 2011
A variety of mutational mechanisms shape the dynamic architecture of human genomes and occasionally result in congenital defects and disease. Here, we used genome-wide long mate-pair sequencing to systematically screen for inherited and de novo ...
Cuppen, E., Nesselrooij van, B., Roosmalen van, M., Letteboer, T., Poot, M., Hochstenbach, R., Duran, K.J., Bakker, S., van Nesselrooij, B., van Roosmalen, M., Bruijn de, E., Guryev, V., de Bruijn, E., Kloosterman, W.P.   +13 more
core   +1 more source

A Bifunctional T3SS‐Effector Simultaneously Cleaves Host MAP Kinase and Inhibits PPM1A Phosphatase

Advanced Science, EarlyView.
Pathogenic bacteria exploit the metalloprotease effector NleD to subvert host defenses. Structural, biochemical, and infection analyses reveal a bifunctional mechanism by which NleD binds and inhibits the host phosphatase PPM1A while preserving its proteolytic activity against MAPKs.
Yaakov Socol, Lihi Gur‐Arie, Netanel Tzarum, Tamara Wellins, Naama Katsowich, Miriam Ravins, Michal Bejerano‐Sagie, Klil Cohen, Oded Livnah, Joshua N. Adkins, Ernesto Nakayasu, Alexei Savchenko, Yeu Khai Choong, Nikhil Kumar Tulsian, Saturo Machida, Sigal Ben‐Yehuda, Yael Litvak, J. Sivaraman, Ilan Rosenshine   +18 more
wiley   +1 more source

LC3B Mediated SETDB1‐Accounted Alcoholic Steatohepatitis via Lipidation‐Dependent LAP and Lipidation‐Independent Nuclear Stabilization

Advanced Science, EarlyView.
SETDB1 is progressively downregulated in ALD, correlating with disease severity. SETDB1 deficiency impairs LAP by disrupting Rubicon membrane localization, leading to defective lipid droplet clearance. Concurrently, loss of SETDB1 reduces nuclear LC3B, causing R‐loop accumulation and cGAS‐STING‐driven inflammation. Lipidated LC3B mediates LAP‐dependent
Yi Zhang, Tan Wei, Jiahang Wu, Chuixu Lin, Dongbo Zhu, Yanhui Li, Shuting Shi, Shishun Huang, Leiming Jiang, Hongzhi Wang, Meiqi Song, Pengfei Gao, Xu Wu, Mingjian Fan, Chaofeng Wei, Qian Wang, Lihui Qu, Zhigang Wang   +17 more
wiley   +1 more source

Unraveling the Molecular Mechanisms Underlying Spontaneous Multipolar Mitosis Through CIN‐seq

Advanced Science, EarlyView.
Multipolar mitosis, a hallmark of chromosomal instability (CIN), drives tumor heterogeneity but is challenging to study in live cells. Using CIN‐seq, a single‐cell multiomics method, we profiled rare CIN events and identified mechanisms associated with viable multipolar mitosis, including PTEN attenuation, Rho GTPase‐driven cytokinesis failure, and ...
Pin‐Rui Su, Ting‐Chun Chou, Maria Teresa López‐Cascales, Junfeng Huang, Tsai‐Ying Chen, Sjoukje van Wieren, Chan Li, Cecile Beerens, Li You, Jelle Storteboom, Miao‐Ping Chien   +10 more
wiley   +1 more source