Results 61 to 70 of about 103,802 (248)

Mechanisms for human genomic rearrangements [PDF]

PathoGenetics, 2008
Abstract Genomic rearrangements describe gross DNA changes of the size ranging from a couple of hundred base pairs, the size of an average exon, to megabases (Mb). When greater than 3 to 5 Mb, such changes are usually visible microscopically by chromosome studies. Human diseases that result from genomic rearrangements have been called genomic
Gu, Wenli, Zhang, Feng, Lupski, James R
openaire   +2 more sources

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

A model for rearrangements in RNA genomes

Nucleic Acids Research, 1995
Engineered mutants of Theiler's murine encephalomyelitis virus (TMEV) and poliovirus having altered spacing between the oligopyrimidine and AUG moieties of a translational control element are known to generate pseudorevertants with deletions or insertions that tend to restore the wild-type structure of this element.
E V, Pilipenko, A P, Gmyl, V I, Agol
openaire   +3 more sources

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

The Cohesion complex maintains genome stability by preventing end joining of distant DNA ends in S phase

Molecular & Cellular Oncology, 2018
Genome instability is a hallmark of cancer cells. The joining of distant DNA double-strand ends (DSEs) ineluctably leads to genome rearrangements. We found that the cohesion complex maintains genome stability by repressing the joining of distant DSEs ...
Camille Gelot, Josée Guirouilh-Barbat, Bernard S. Lopez   +2 more
doaj   +1 more source

Large genomic rearrangements in MECP2 [PDF]

Human Mutation, 2005
In 1999, mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2) were first reported in patients with Rett syndrome (RTT). The MECP2 gene is located at Xq28 and consists of 4 exons. About 80-90 % of the classic RTT patients harbor mutations in the coding region of MECP2, while the molecular cause is unknown in the remaining 10-20%.
Kirstine, Ravn, Jytte Bieber, Nielsen, Ola Husbeth, Skjeldal, Alison, Kerr, Maj, Hulten, Marianne, Schwartz   +5 more
openaire   +2 more sources

Molecular dynamics simulations of positively selected codons in FcγRI reveal novel biochemical binding properties

FEBS Open Bio, EarlyView.
Evolutionary analysis across 32 placental mammals identified positive selection at residues H148 and W149 in the immune receptor FcγR1. Ancestral reconstruction combined with molecular dynamics simulations reveals how these mutations may influence receptor structure and dynamics, providing insight into the evolution of antibody recognition and immune ...
David A. Young, Omar Arias‐Gaguancela, Fiona Gibson, Morgan Grainger, Jodie Score, Amit Nathubhai, Mauricio Cafiero, Lee Richard Machado   +7 more
wiley   +1 more source

Genome of the world’s smallest flowering plant, Wolffia australiana, helps explain its specialized physiology and unique morphology

Communications Biology, 2021
Halim Park and Jin Hwa Park et al. report the nuclear genome sequence of the duckweed Wolffia australiana, the smallest known flowering plant. The genome assembly represents an improvement over a recently published genome and highlights genome ...
Halim Park, Jin Hwa Park, Yejin Lee, Dong U Woo, Ho Hwi Jeon, Yeon Woo Sung, Sangrea Shim, Sang Hee Kim, Kyun Oh Lee, Jae-Yean Kim, Chang-Kug Kim, Debashish Bhattacharya, Hwan Su Yoon, Yang Jae Kang   +13 more
doaj   +1 more source

Importin 7 mediates the nuclear import of HIV‐1 integrase via a specific interacting interface

FEBS Open Bio, EarlyView.
HIV‐1 integrase enables viral DNA integration into the host genome. By binding to the core domain of the host protein Importin 7 via its C‐terminal domain, the integrase is transported across the nuclear membrane into the nucleus, where integration of the viral genome into host DNA takes place. This translocation is a critical step for subsequent viral
Juana Bana, Avigail Yariv, Tal Oppenheim, Hadar Amartely, Dana Reichmann, Oded Livnah   +5 more
wiley   +1 more source

High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing.

PLoS ONE, 2018
The detection of recurrent somatic chromosomal rearrangements is standard of care for most leukemia types. Even though karyotype analysis-a low-resolution genome-wide chromosome analysis-is still the gold standard, it often needs to be complemented with ...
Anh Nhi Tran, Fulya Taylan, Vasilios Zachariadis, Ingegerd Ivanov Öfverholm, Anna Lindstrand, Francesco Vezzi, Britta Lötstedt, Magnus Nordenskjöld, Ann Nordgren, Daniel Nilsson, Gisela Barbany   +10 more
doaj   +1 more source