Results 21 to 30 of about 612,525 (237)
Genotyping inversions and tandem duplications [PDF]
Bioinformatics, 2017 Abstract Motivation Next Generation Sequencing (NGS) has enabled studying structural genomic variants (SVs) such as duplications and inversions in large cohorts. SVs have been shown to play important roles in multiple diseases, including cancer.
Ebler, Jana +2 more
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Targeted genome editing in vivo corrects a Dmd duplication restoring wild‐type dystrophin expression
EMBO Molecular Medicine, 2021 Tandem duplication mutations are increasingly found to be the direct cause of many rare heritable diseases, accounting for up to 10% of cases. Unfortunately, animal models recapitulating such mutations are scarce, limiting our ability to study them and ...
Eleonora Maino +14 more
doaj +1 more source
Plant Biotechnology Journal, 2021 Summary Azalea belongs to Rhododendron, which is one of the largest genera of flowering plants and is well known for the diversity and beauty in its more than 1000 woody species. Rhododendron contains two distinct groups: the most high‐altitude and a few
Xiuyun Wang +13 more
semanticscholar +1 more source
An Irak1-Mecp2 tandem duplication mouse model for the study of MECP2 duplication syndrome
Disease Models & MechanismsEleonora Maino +13 more
doaj +2 more sources
On Counting Tandem Duplication Trees [PDF]
Molecular Biology and Evolution, 2004 IntroductionLarge genomes are full of repeated DNA sequences.It was estimated that over half of the human DNA consistsof repeated sequences (Baltimore 2001; Eichler 2001;Leem et al. 2002). Tandem duplication is one of theimportant evolutionary mechanisms for producing re-peated DNA sequences, in which the copies that may ormay not contain genes are ...
Yang, J., Zhang, L.
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Journal of Clinical Oncology, 2020 PURPOSE Despite undergoing allogeneic hematopoietic stem cell transplantation (HCT), patients with acute myeloid leukemia (AML) with internal tandem duplication mutation in the FMS-like tyrosine kinase 3 gene (FLT3-ITD) have a poor prognosis, frequently ...
A. Burchert +40 more
semanticscholar +1 more source
The Combinatorics of Tandem Duplication Trees [PDF]
Systematic Biology, 2003 We developed a recurrence relation that counts the number of tandem duplication trees (either rooted or unrooted) that are consistent with a set of n tandemly repeated sequences generated under the standard unequal recombination (or crossover) model of tandem duplications.
Gascuel, Olivier +3 more
openaire +3 more sources
Bone Marrow Transplantation, 2020 We evaluated standard-of-care (SOC) treatment with or without midostaurin to prevent relapse following allogeneic hematopoietic stem cell transplant (alloHSCT) in patients with acute myeloid leukemia (AML) harboring internal tandem duplication (ITD) in ...
R. Maziarz +14 more
semanticscholar +1 more source
The clinical importance of tandem exon duplication-derived substitutions
Nucleic Acids Research, 2021 Most coding genes in the human genome are annotated with multiple alternative transcripts. However, clear evidence for the functional relevance of the protein isoforms produced by these alternative transcripts is often hard to find.
Laura Martínez Gómez +4 more
semanticscholar +1 more source
Diagnostic Molecular Pathology, 2013 Internal tandem duplication (ITD) mutations of the FLT3 gene have been associated with a poor prognosis in acute myeloid leukemia. Detection of ITD-positive minor clones at the initial diagnosis and during the minimal residual disease stage may be essential.
Ming-Tseh, Lin +9 more
openaire +2 more sources