Results 101 to 110 of about 1,161,690 (369)

Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou, Carl D. Langefeld, Padmini Sekar, Mary Comeau, Timothy Howard, Tamara N. Kimball, Chen Bowang, Hyacinth I. Hyacinth, Jonathan Rosand, Christopher D. Anderson, Caspar Grond‐Ginsbach, Daniel Woo, Stacie L. Demel   +12 more
wiley   +1 more source

Dysfunctional telomeres in primary cells from Fanconi anemia FANCD2 patients [PDF]

, 2012
© 2012 Joksic et al. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium ...
Guc-Scekic, M, Joksic, G, Joksic, I, Leskovac, A, Ojani, M, Petrovic, S, Slijepcevic, P, Stankovic, A, Surralles, J, Trujillo, JP, Vujic, D, Zivkovic, M   +11 more
core   +3 more sources

Engineering the Link: From Genome Interaction Maps to Functional Insight

Advanced Biology, EarlyView.
Advances in chromosome conformation capture have revealed the genome's 3D organization, yet its causal impact on gene regulation remains elusive. This review highlights emerging genome‐engineering tools ‐ zinc fingers, TALEs, and CRISPR‐Cas9 ‐ that enable targeted manipulation of chromatin loops to dissect structure–function relationships. It discusses
Frido Petersen, Simon Westermann, Valeriia Smialkovska, Jan Mathony, Angelika Feldmann, Dominik Niopek   +5 more
wiley   +1 more source

DNA repair: Disorders [PDF]

, 2010
No description ...
Bose, Burg, Caldecott, Chu, Digweed, Fernandez-Capetillo, Fousteri, Fousteri, Friedberg, Gudmundsdottir, Hashimoto, Hoeijmakers, Jiricny, Kraemer, Lavin, Lehmann, Lieber, Ma, Masutani, McCulloch, Meindl, Moldovan, Moshous, Nance, Nouspikel, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, Rass, Stefanini, Stewart, Stracker, Taylor, Vaz, Wu, Zlatanou   +36 more
core   +1 more source

Versatile Cell Penetrating Peptide for Multimodal CRISPR Gene Editing in Primary Stem Cells

Advanced Functional Materials, EarlyView.
CRISPR machinery in diverse molecular formats (DNA, RNA, and ribonucleic protein) is complexed into nanoparticles with the cell‐friendly arginine‐alanine‐leucine‐alanine (RALA) cell‐penetrating peptide. Nanoparticles are delivered to primary mesenchymal stem cells ex vivo or locally in vivo to facilitate multimodal CRISPR gene editing. This RALA‐CRISPR
Joshua P. Graham, Jose Gabriel Castro, Lisette C. Werba, Joseph Amitrano, Luke Fardone, Kevin P. Francis, Anand Ramamurthi, Michael J. Layden, Helen O. McCarthy, Tomas Gonzalez‐Fernandez   +9 more
wiley   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Integration of DNA into bacterial chromosomes from plasmids without a counter-selection marker. [PDF]

, 2011
Most bacteria can only be transformed with circular plasmids, so robust DNA integration methods for these rely upon selection of single-crossover clones followed by counter-selection of double-crossover clones.
Cartman, ST, Cooksley, CM, Ehsaan, M, Heap, JT, Minton, NP, Ng, YK, Winzer, K   +6 more
core   +5 more sources

Probiotic‐Based Materials as Living Therapeutics

Advanced Materials, EarlyView.
Recent advances in Engineered Living Materials are highlighted, integrating synthetic biology and advanced materials, with a focus on probiotic‐based therapeutics. Probiotic Living Materials hold great potential for biosensing, infection treatment, osteogenesis, wound healing, vaginal and gastrointestinal disorders, and cancer therapy. breakthroughs in
Laura Sabio, Graham J. Day, Manuel Salmeron‐Sanchez   +2 more
wiley   +1 more source

Smc5/6: a link between DNA repair and unidirectional replication? [PDF]

, 2008
Of the three structural maintenance of chromosome (SMC) complexes, two directly regulate chromosome dynamics. The third, Smc5/6, functions mainly in homologous recombination and in completing DNA replication.
A Losada, Antony M. Carr, AR Lehmann, B Hu, D Branzei, D Ivanov, DM Sheedy, E Ampatzidou, E Unal, E Unal, EA Andrews, ES Chen, F Onoda, G De Piccoli, GJ Cost, H Morikawa, HB Lindroos, HM Verkade, I Miyabe, J Palecek, J Rouse, J Sergeant, J Torres-Rosell, J Torres-Rosell, JK Chin, Johanne M. Murray, KL Borden, KM Lee, L Strom, L Strom, MI Fousteri, MN Boddy, N Aono, PR Potts, PR Potts, PR Potts, S Pebernard, S Pebernard, SH Harvey, T de Lange, T Kobayashi, T Mengiste, T Morishita, TM Roberts, WH McDonald, WM Thorburn, X Zhao   +46 more
core   +1 more source

Imputation-free reconstructions of three-dimensional chromosome architectures in human diploid single-cells using allele-specified contacts

Scientific Reports, 2022
Single-cell Hi-C analysis of diploid human cells is difficult because of the lack of dense chromosome contact information and the presence of homologous chromosomes with very similar nucleotide sequences.
Yoshito Hirata, Arisa H. Oda, Chie Motono, Masanori Shiro, Kunihiro Ohta   +4 more
doaj   +1 more source