Results 71 to 80 of about 76,927 (296)

Tracing cancer evolution and heterogeneity using Hi-C

Nature Communications, 2023
Chromosomal rearrangements can initiate and drive cancer progression, yet it has been challenging to evaluate their impact, especially in genetically heterogeneous solid cancers.
Dan Daniel Erdmann-Pham, Sanjit Singh Batra, Timothy K. Turkalo, James Durbin, Marco Blanchette, Iwei Yeh, Hunter Shain, Boris C. Bastian, Yun S. Song, Daniel S. Rokhsar, Dirk Hockemeyer   +10 more
doaj   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Two Routes to Land: Genomic Underpinnings of Parallel Aerial Egg Deposition in Aquatic Old‐World Pila and New‐World Pomacea (Ampullariidae)

Advanced Science, EarlyView.
Comparative genomics of Gondwana‐diverged Pila and Pomacea reveals parallel evolution of aerial oviposition. Convergent chromosomal rearrangements reshape regulatory landscapes within topologically associating domains. Lineage‐specific gene family expansions and viral‐derived perivitelline proteins (PV1) underpin desiccation resistance.
Yufei Zhou, Huawei Mu, Xueying Nie, Yue Gao, Hui Wang, Ling Fang, Tiangang Luan, Monthon Ganmanee, Jian‐Wen Qiu, Jin Sun, Jack Chi‐Ho Ip   +10 more
wiley   +1 more source

Widespread chromosomal rearrangements preceded genetic divergence in a monitor lizard, Varanus acanthurus (Varanidae) [PDF]

, 2023
Chromosomal rearrangements are often associated with local adaptation and speciation because they suppress recombination, and as a result, rearrangements have been implicated in disrupting gene flow.
Dobry, Jason, Gruber, Bernd, Ezaz, Tariq; id_orcid, Deakin, Janine E; id_orcid, Wapstra, Erik, Stringer, Emily J   +5 more
core   +1 more source

[Chromosome rearrangements in leukemia].

[Rinsho ketsueki] The Japanese journal of clinical hematology, 1991
Information on the presence of specific chromosomal structural abnormalities in certain tumors has been increasing. Although the tumor specific chromosomal abnormalities were deemed important, it was not until the chromosomal location of several oncogenes was determined that the real molecular significance became apparent.
openaire   +2 more sources

Multi‐Omics Profiling Reveals Immunomodulatory and Pro‐Regenerative Effects of a Graphene Oxide–Collagen Scaffold in Massive Rotator Cuff Tears

Advanced Science, EarlyView.
A graphene oxide/collagen scaffold is developed for chronic massive rotator cuff tear repair. The scaffold improves compressive stability, supports reparative mesenchymal differentiation, and modulates the immune microenvironment. In chronic MRCT models, it reduces muscle degeneration, enhances tendon–bone regeneration, and improves functional recovery,
Renwen Wan, Yechuan Deng, Zixin Hu, Yanwei He, Xinting Feng, Jun Ma, Yisheng Chen, Zhijie Zhao, Jie Mei, Zhiheng Lin, Wei Luo, Zhengyuan Fang, Zhufeng Hu, Kunlun Feng, Xinrong Li, Dan Wu, Bowen Han, James Hoi po Hui, Xuanyong Liu, Chen Chen, Gang Chen, Shiyi Chen, Nirong Bao, Jiajun Qiu, Zhiwen Luo   +24 more
wiley   +1 more source

Recruitment and rejoining of remote double-strand DNA breaks for enhanced and precise chromosome editing

Genome Biology
Chromosomal rearrangements, such as translocations, deletions, and inversions, underlie numerous genetic diseases and cancers, yet precise engineering of these rearrangements remains challenging.
Mingyao Wang, Pengchong Fu, Ziheng Chen, Xiangnan Wang, Hanhui Ma, Xuedi Zhang, Guanjun Gao   +6 more
doaj   +1 more source

CREAT: A CRISPR‐Based Genome Trimming Strategy for Systematic Identification of Dispensable Regions and Rapid Genome Reduction

Advanced Science, EarlyView.
Current genome‐reduction methods work in a trial‐and‐error fashion, constituting a long‐standing bottleneck in the research. We developed CREAT (CRISPR‐based genome trimming with a multi‐homology‐arm template), a CRISPR‐based genetic approach that enables systematically classifying essential versus non‐essential genomic regions and subsequently ...
Guanhua Yuan, Zhe Gao, Yingxuan Qi, Yang Zhang, Xuhui Tian, Pengpeng Zhao, Xu Feng, Qunxin She   +7 more
wiley   +1 more source

Analysis of chromosomal rearrangements after replication restart [PDF]

, 2014
Impediments to DNA replication are known to induce gross chromosomal rearrangements (GCRs) and copy-number variations (CNVs). GCRs and CNVs underlie human genomic disorders and are a feature of cancer. During cancer development, environmental factors and
Saed Mohebi (500085)
core  

An assessment of chromosomal rearrangements in neopolyploids of Lilium hybrids [PDF]

, 2010
Two types of newly induced polyploids (neopolyploids) of Lilium hybrids were monitored for the occurrence of chromosomal rearrangements through genomic in situ hybridization (GISH) technique.
Marasek Ciolakowska, A.R., M. S. Ramanna, Niu, L.X., Xie, S.L., Paul Arens, Arens, P., Ramanna, M.S., Tuyl, J.M., van, Khan, N., Lixin Niu, Jaap M. van Tuyl, Songlin Xie, Nadeem Khan, Agnieszka Marasek-Ciolakowska, van Tuyl, J.M.   +14 more
core   +1 more source