Results 101 to 110 of about 93,691 (297)

Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency

Human Genomics
Chromosomal structural rearrangements consist of anomalies in genomic architecture that may or may not be associated with genetic material gain and loss.
V. Alesi, S. Genovese, M. C. Roberti, E. Sallicandro, S. Di Tommaso, S. Loddo, V. Orlando, D. Pompili, C. Calacci, V. Mei, E. Pisaneschi, M. V. Faggiano, A. Morgia, C. Mammì, G. Astrea, R. Battini, M. Priolo, M. L. Dentici, R. Milone, A. Novelli   +19 more
doaj   +1 more source

Polo-like kinase 3 regulates CtIP during DNA double-strand break repair in G1 [PDF]

, 2014
DNA double-strand breaks (DSBs) are repaired by nonhomologous end joining (NHEJ) or homologous recombination (HR). The C terminal binding protein–interacting protein (CtIP) is phosphorylated in G2 by cyclin-dependent kinases to initiate resection and ...
Anantha, Anger, Bahassi, Beausoleil, Bernard S. Lopez, Beucher, Boboila, Bunting, Chapman, Chapman, Chen, Darroudi, Davis, de Cárcer, Deckbar, Di Virgilio, Donnianni, Elia, Escribano-Díaz, Feng, Golsteyn, Gotoh, Helmink, Huertas, Huertas, Jackman, Jackson, Jiadong Wang, Julia Künzel, Junjie Chen, Kim, Kühne, Lansing, Lee, Lee-Theilen, Li, Lin Feng, Lukas, Lukas, Löbrich, Mansour, Markus Löbrich, Mladenov, Monika Steinlage, Mosesso, Moynahan, Naim, Nakamura, Nodar Makharashvili, Nussenzweig, Nussenzweig, Olivia Barton, Panier, Pearce, Penny A. Jeggo, Peterson, Polo, Quennet, Rass, Reczek, Reinhardt, Rief, Ronja Diemer-Biehs, Rothkamm, Sandro Conrad, Sartori, Shibata, Steffen C. Naumann, Stephan, Tanya T. Paull, van Gent, van Gent, Wang, Wang, Wang, Weichert, Weichert, Weinstock, Ying, Yu, Yu, Yun, Zhang, Zimmerman, Zimmermann   +84 more
core   +1 more source

Engineering Compact Base Editors by AlphaFold‐Guided Mutation Scan and Escherichia coli‐Based Tri‐Selection

Advanced Science, EarlyView.
A miniaturized deaminase SsdAtox was scanned with AlphaFold to identify DNA binding pocket hot spots. Site‐saturation mutagenesis at gatekeeper residue K31 yielded ten‐fold activity enhancement. Trinity Screen, an E. coli‐based three‐in‐one platform selecting for high activity and reduced double‐strand breaks, enabled combinatorial evolution at DNA ...
Ryeo Gang Son, Goeun Kim, Jungjoon K. Lee   +2 more
wiley   +1 more source

De Novo Small Supernumerary Marker Chromosomes Arising From Partial Trisomy Rescue

Frontiers in Genetics, 2020
Small supernumerary marker chromosomes (SMCs) are rare cytogenetic abnormalities. De novo small SMCs, particularly those combined with uniparental disomy (UPD), are assumed to result from incomplete trisomy rescue.
Keiko Matsubara, Kaede Yanagida, Toshiro Nagai, Masayo Kagami, Maki Fukami   +4 more
doaj   +1 more source

Complexity of chromosomal rearrangements in Down syndrome leukemia

Journal of Cancer Research and Therapeutics, 2017
Reports on imbalanced HSA21 gene expression and chromosomal rearrangements on leukemogenesis, drug sensitivity, and treatment outcome of leukemia in Down syndrome (DS) are limited. DS has been recognized as one of the most common leukemia-predisposing syndromes with unique clinical features, significant differences in treatment outcome and treatment ...
Bani Bandana, Ganguly, Nitin N, Kadam, Prakash K, Mandal   +2 more
openaire   +2 more sources

Chromosomal integrity after UV irradiation requires FANCD2-mediated repair of double strand breaks [PDF]

, 2016
Fanconi Anemia (FA) is a rare autosomal recessive disorder characterized by hypersensitivity to inter-strand crosslinks (ICLs). FANCD2, a central factor of the FA pathway, is essential for the repair of double strand breaks (DSBs) generated during fork ...
Bocco, Jose Luis, Di Giorgio, Marina, Federico, Maria Belén, Gottifredi, Vanesa, Paviolo, Natalia Soledad, Radl, Daniela Betiana, Soria, Gastón, Vallerga, María   +7 more
core   +3 more sources

Time‐Efficient and Informatic‐Skill‐Light Gap‐Filling for Telomere‐to‐Telomere Genome Assembly

Advanced Science, EarlyView.
The paper introduces a novel auxiliary software toolbox GapSuite, consisting of two tools Gap‐Aid and Gap‐Graph, which guides users to fill gaps in chromosome‐level genome assembly using sequence‐extension‐based and assembly‐graph‐based strategies. The two tools enable users with limited informatics expertise to efficiently complete gap‐filling on ...
Dong Xu, Xianjia Zhao, Lianguang Shang, Shaolong Tian, Yanchun Li, Huaming Wen, Qiang Xu, Dongxi Li, Weihua Pan   +8 more
wiley   +1 more source

Is now the time for molecular driven therapy for diffuse large B-cell lymphoma? [PDF]

, 2017
INTRODUCTION: Recent genetic and molecular discoveries regarding alterations in diffuse large B-cell lymphoma (DLBCL) deeply changed the approach to this lymphoproliferative disorder.
Ansuinelli, Michela, DE ANGELIS, Federico, DI ROCCO, Alice, Foa, Roberto, Martelli, Maurizio   +4 more
core   +1 more source

cuteHap: Haplotype‐Aware Structural Variant Detection in Phased Long‐Read Sequencing Data

Advanced Science, EarlyView.
cuteHap is a haplotype‐aware structural variant detection method designed for phased long‐read sequencing. By employing self‐adaptive clustering and credibility‐prioritized beam search algorithms, cuteHap generates accurate haplotype‐resolved calls and outperforms state‐of‐the‐art tools.
Shuqi Cao, Yadong Liu, Miao Cui, Runtian Gao, Weimin Guo, Guohua Wang, Yadong Wang, Tao Jiang   +7 more
wiley   +1 more source

Genetic Control of Tissue Remodeling by a Non‐Coding SNP in ITGA8 Explains Carotenoid‐Based Color Polymorphism in Marine Mollusks

Advanced Science, EarlyView.
In this study, the orange‐muscle giant abalone (Haliotis gigantea) is used as a model to identify a non‐coding SNP that disrupts the interaction between ITGA8 pre‐mRNA and the splicing factor ILF2, leading to altered ITGA8 splicing. These splicing changes promote carotenoid accumulation in abalone muscle through the regulation of tissue remodeling ...
Xiaohui Wei, Wenzhu Peng, Zekun Huang, Bingye Yang, Yiyu Wu, Minzhen Han, Yi Wang, Bingling Peng, Guosheng Hu, Jiawei Hong, Guijia Liu, Linwei Nie, Yang Gan, Miaoqin Huang, Xuan Luo, Weiwei You, Wen Liu, Caihuan Ke   +17 more
wiley   +1 more source