نتایج جستجو برای: large genomic rearrangements
تعداد نتایج: 1142013 فیلتر نتایج به سال:
An increasing number of human diseases are recognized to result from recurrent DNA rearrangements involving unstable genomic regions. These are termed genomic disorders, in which the clinical phenotype is a consequence of abnormal dosage of gene(s) located within the rearranged genomic fragments. Both inter- and intrachromosomal rearrangements are facilitated by the presence of region-specific ...
Structural variations (SVs) contribute significantly to the variability of the human genome and extensive genomic rearrangements are a hallmark of cancer. While genomic DNA paired-end-tag (DNA-PET) sequencing is an attractive approach to identify genomic SVs, the current application of PET sequencing with short insert size DNA can be insufficient for the comprehensive mapping of SVs in low comp...
BACKGROUND Karyotype analysis has been the standard method for prenatal cytogenetic diagnosis since the 1970s. Although highly reliable, the major limitation remains the requirement for cell culture, resulting in a delay of as much as 14 days to obtaining test results. Fluorescent in situ hybridisation (FISH) and quantitative fluorescent PCR (QF-PCR) rapidly detect common chromosomal abnormalit...
Genomic distance between two genomes, i.e., the smallest number of genome rearrangements required to transform one genome into the other, is often used as a measure of evolutionary closeness of the genomes in comparative genomics studies. However, in models that include rearrangements of significantly different “power” such as reversals (that are “weak” and most frequent rearrangements) and tra...
Many loci in the human genome harbor complex genomic structures that can result in susceptibility to genomic rearrangements leading to various genomic disorders. Nephronophthisis 1 (NPHP1, MIM# 256100) is an autosomal recessive disorder that can be caused by defects of NPHP1; the gene maps within the human 2q13 region where low copy repeats (LCRs) are abundant. Loss of function of NPHP1 is resp...
Abstract Non-genomic determinates of oncogenic cellular phenotypes is an emerging concept that expanded our model tumor hallmarks. We hypothesized programs in adult glioblastoma (GBM) such as angiogenesis, proliferation, DNA repair, epithelial to mesenchymal transition and quiescent states are achieved independently mutational background or clonal linage. therefore explored the assortations lar...
Introduction: Most B-cell malignancies are diagnosed based on morphologic and immunohistochemical criteria. Some cases, however, still present a challenge for the pathologist to discriminate between reactive hyperplasia and neoplastic disorders. Molecular techniques can be used as a helpful diagnostic tool in these cases. In this study, we assessed the value of polymerase chain reaction (PCR) t...
The DNA is cells is continuously exposed to reactive oxygen species resulting in toxic and mutagenic DNA damage. Although the repair of oxidative DNA damage occurs primarily through the base excision repair (BER) pathway, the nucleotide excision repair (NER) pathway processes some of the same lesions. In addition, damage tolerance mechanisms, such as recombination and translesion synthesis, ena...
TCF12-related craniosynostosis can be caused by small heterozygous loss-of-function mutations in TCF12. Large intragenic rearrangements, however, have not been described yet. Here, we present the identification of four large rearrangements in TCF12 causing TCF12-related craniosynostosis. Whole-genome sequencing was applied on the DNA of 18 index cases with coronal synostosis and their family me...
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