Results 31 to 40 of about 63,140 (263)

SVseq discloses the genomic complexity of different prenatal, de novo, apparently balanced chromosome rearrangements detected by CMA and karyotype

Italian Journal of Pediatrics
Background Balanced chromosomal rearrangements (BCRs) are common structural variations (SVs), but only a small number of individuals with BCRs exhibit abnormalities. To better understand the different phenotypes in children diagnosed with BCRs during the
Shengfang Qin, Xueyan Wang, Chun Chen, Jin Wang, Zhuo Zhang, Yan Yin, Xiangyou Leng   +6 more
doaj   +1 more source

Structural insights and therapeutic targets in Acinetobacter baumannii capsule biosynthesis

FEBS Letters, EarlyView.
Hypervirulent KL49 A. baumannii's capsular polysaccharide contains the nonulosonic acid 8‐epi‐Leg5,7Ac2, synthesized by epimerization via ElaA, ElaB, and ElaC. Crystal structures of ElaA, ElaB, and ElaC reveal their role in CMP‐Leg5,7Ac2 synthesis and regioselective C8 epimerization.
Woo Cheol Lee, Junho Jeong, Chae Yeong Lee, Hyunjoon Cho, Man Hwan Oh, Je Chul Lee, Jee‐Young Lee, Yangmee Kim   +7 more
wiley   +1 more source

On the spot: very local chromosomal rearrangements [PDF]

F1000 Biology Reports, 2012
Over the last decade, the detection of chromosomal abnormalities has shifted from conventional karyotyping under a light microscope to molecular detection using microarrays. The latter technology identified copy number variation as a major source of variation in the human genome; moreover, copy number variants were found responsible for 10-20% of cases
Helsmoortel, Céline, Vandeweyer, Geert, Kooy, R. Frank   +2 more
openaire   +3 more sources

Synergistic perspectives—How single‐molecule biophysics complement biochemical understanding

FEBS Letters, EarlyView.
In this review, we discuss how ensemble biochemistry and single‐molecule approaches are complementary, outline commonly used single‐molecule techniques, and illustrate their relevance through two representative case studies: chromatin organization by SMC complexes and pathway choice during DNA double‐strand break repair.
Sara De Bragança, Eline L. Jansen, Jorine M. Eeftens   +2 more
wiley   +1 more source

Homozygosity for Pericentric Inversions of Chromosome 9 in a Patient’s Parents with Stillbirth- Report of a New Case and Review of Literature [PDF]

Iranian Journal of Public Health, 2006
Pericentric inversions of chromosome 9 are among the most frequent chromosomal rearrangement in human. A few cytogeneticists consider inversions of chromosome 9 as a normal variant.
M Khaleghian, C Azimi   +1 more
doaj   +1 more source

Translating whole‐genome doubling into precision medicine in cancer

Molecular Oncology, EarlyView.
Whole‐genome doubling creates a WGD‐positive tumor state characterized by persistent chromosomal instability, karyotypic diversification, and cellular stress. These same biological pressures drive aggressive tumor evolution while exposing therapeutic vulnerabilities, providing a rationale for WGD‐informed precision medicine. Whole‐genome doubling (WGD)
Sejung Lee, Junghyeok Lim, Jinhyuk Bhin
wiley   +1 more source

Chromosome-level genome assembly for giant panda provides novel insights into Carnivora chromosome evolution

Genome Biology, 2019
Background Chromosome evolution is an important driver of speciation and species evolution. Previous studies have detected chromosome rearrangement events among different Carnivora species using chromosome painting strategies.
Huizhong Fan, Qi Wu, Fuwen Wei, Fengtang Yang, Bee Ling Ng, Yibo Hu   +5 more
doaj   +1 more source

High cell density and latent membrane protein 1 expression induce cleavage of the mixed lineage leukemia gene at 11q23 in nasopharyngeal carcinoma cell line

Journal of Biomedical Science, 2010
Background Nasopharyngeal carcinoma (NPC) is commonly found in Southern China and South East Asia. Epstein-Barr virus (EBV) infection is well associated with NPC and has been implicated in its pathogenesis.
Sim Sai-Peng, Yee Peter
doaj   +1 more source

Single‐cell DNA methylation profiling: Technologies, computation, and applications in precision oncology

Molecular Oncology, EarlyView.
Single‐cell DNA methylation (scDNAme) profiling maps epimutational clonal evolution, revealing mechanisms of malignancy and therapeutic resistance across diverse cancer types. By providing a high‐resolution landscape of intratumoral heterogeneity, these technologies empower precise patient stratification, guide the development of enhanced ...
Ik Soo Kim
wiley   +1 more source

Using cell‐free RNA to identify B‐ and T‐cell clonality for diagnosis and monitoring of B‐ and T‐cell neoplasms

FEBS Open Bio, EarlyView.
Using peripheral blood for determining B‐cell or T‐cell clonality is more reliable when we use cell‐free RNA (cfRNA) because cells release blood significantly more RNA than DNA. Next‐generation sequencing (NGS) of cfRNA allows us to evaluate fragment cfRNA and evaluate clonality reliably without the need for prior determination of the specific dominant
Adam Albitar, Sally Agersborg, Ahmed Charifa, Pooja Phull, Noa Biran, David Vesole, Harsh Parmar, Andrew Pecora, Andrew Ip, Andre Goy, David Siegel, Maher Albitar   +11 more
wiley   +1 more source