Results 91 to 100 of about 93,691 (297)

Endogenous topoisomerase II-mediated DNA breaks drive thymic cancer predisposition linked to ATM deficiency [PDF]

, 2020
The ATM kinase is a master regulator of the DNA damage response to double-strand breaks (DSBs) and a well-established tumour suppressor whose loss is the cause of the neurodegenerative and cancer-prone syndrome Ataxia-Telangiectasia (A-T).
Bernal Lozano, Cristina, Cortés Ledesma, Felipe, Delgado Sainz, Irene, García Quintanilla, Lourdes, Jimeno González, Silvia, Martínez García, Pedro Manuel, Quintero, Cristina, Romero Granados, Rocío, Serrano Benítez, Almudena, Terrón Bautista, José, Álvarez Quilón, Alejandro   +10 more
core   +3 more sources

Material‐Induced Nuclear Deformation Controls Chromatin Architecture in Adipose Stem Cells

Advanced Science, EarlyView.
Tuning cell and cytoskeleton mechanics modulated nuclear shape and heterochromatin organization in ASCs. Distinct cytoskeletal architectures induced nuclear morphologies from oblate to prolate ellipsoids. Large elongated cells with a structured actin cap exhibited high nuclear strain, driving nuclear envelope deformation and heterochromatin ...
Carlo F. Natale, Luca Messina, Valeria Panzetta, Stefania Saporito, Costantino Menna, Maurizio Ventre, Paolo A. Netti   +6 more
wiley   +1 more source

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.

PLoS Genetics, 2018
Clustered copy number variants (CNVs) as detected by chromosomal microarray analysis (CMA) are often reported as germline chromothripsis. However, such cases might need further investigations by massive parallel whole genome sequencing (WGS) in order to ...
Lusine Nazaryan-Petersen, Jesper Eisfeldt, Maria Pettersson, Johanna Lundin, Daniel Nilsson, Josephine Wincent, Agne Lieden, Lovisa Lovmar, Jesper Ottosson, Jelena Gacic, Outi Mäkitie, Ann Nordgren, Francesco Vezzi, Valtteri Wirta, Max Käller, Tina Duelund Hjortshøj, Cathrine Jespersgaard, Rayan Houssari, Laura Pignata, Mads Bak, Niels Tommerup, Elisabeth Syk Lundberg, Zeynep Tümer, Anna Lindstrand   +23 more
doaj   +1 more source

Animal models for human contiguous gene syndromes and other genomic disorders

Genetics and Molecular Biology, 2004
Genomic disorders refer to a group of syndromes caused by DNA rearrangements, such as deletions and duplications, which result in an alteration of normal gene dosage.
Katherina Walz, Patricia Fonseca, James R. Lupski   +2 more
doaj   +1 more source

Long‐read Oxford nanopore sequencing reveals a de novo case of complex chromosomal rearrangement involving chromosomes 2, 7, and 13

Molecular Genetics & Genomic Medicine, 2022
Background Complex chromosomal rearrangements (CCRs) are associated with high reproductive risk, infertility, abnormalities in offspring, and recurrent miscarriage in women.
Lingling Xing, Ying Shen, Xiang Wei, Yuan Luo, Yan Yang, Haipeng Liu, Hongqian Liu   +6 more
doaj   +1 more source

A new species in the major malaria vector complex sheds light on reticulated species evolution [PDF]

, 2019
Complexes of closely related species provide key insights into the rapid and independent evolution of adaptive traits. Here, we described and studied Anopheles fontenillei sp.n., a new species in the Anopheles gambiae complex that we recently discovered ...
Akone-Ella O., Ayala D., Barron M. G., Costantini C., Gonzalez J., Kengne P., Ngangue M. F., Paupy C., Pombi M., Rahola N., Simard F., Wilson-Bahun T. A.   +11 more
core   +1 more source

NuSAP Safeguards Centriole Integrity to Mediate CEP57‐CEP152 Torus Recruitment for Proper Engagement

Advanced Science, EarlyView.
This study reveals a novel role for the microtubule stabilizer NuSAP at centrioles. NuSAP depletion destabilizes the centriole's tubulin structure, causing premature disengagement, PCM defects, and mis‐localization of the CEP57‐CEP63‐CEP152 complex. By reinforcing centriole architecture, NuSAP enables early CEP57 loading and initiates a newly proposed ...
Shiyu Zhang, Zemin Jiang, Qiaoyun Yang, Hong Zheng, Minghao Wang, Chennianci Zhu, Lih‐Wen Deng, Karen Carmelina Crasta, Yih‐Cherng Liou   +8 more
wiley   +1 more source

Further delineation of complex chromosomal rearrangements in fertile male using multicolor banding

Molecular Cytogenetics, 2008
Background Complex chromosomal rearrangements (CCRs) are defined as structural chromosomal rearrangements with at least three breakpoints and exchange of genetic material between two or more chromosomes. Complex chromosomal translocations are rarely seen
Weise Anja, Mrasek Kristin, Karadeniz Nilüfer   +2 more
doaj   +1 more source

Rhabdomyosarcoma: Advances in Molecular and Cellular Biology. [PDF]

, 2015
Rhabdomyosarcoma (RMS) is the most common soft tissue malignancy in childhood and adolescence. The two major histological subtypes of RMS are alveolar RMS, driven by the fusion protein PAX3-FKHR or PAX7-FKHR, and embryonic RMS, which is usually ...
Duan, Zhenfeng, Guo, Wei, Hornicek, Francis J, Mankin, Henry J, Shen, Jacson K, Sun, Xin   +5 more
core   +3 more sources

Reference‐Guided Chromosome‐by‐Chromosome de novo Assembly at Scale Using Low‐Coverage High‐Fidelity Long‐Reads with HiFiCCL

Advanced Science, EarlyView.
HiFiCCL, as the first assembly framework specifically designed for low‐coverage high‐fidelity reads, improves the assembly quality of existing assemblers and also enhances downstream applications such as large structural variant (SV) detection (>10 000 bp), synteny analysis, pangenome graph construction, and graph‐based individual‐specific germline SVs
Zhongjun Jiang, Weihua Pan, Runtian Gao, Heng Hu, Wentao Gao, Murong Zhou, Yu‐Hang Yin, Zhipeng Qian, Shuilin Jin, Guohua Wang   +9 more
wiley   +1 more source