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Open AccessSingle cell transcriptomics reveals lineage trajectory of retinal ganglion cells in wild-type and Atoh7-null retinas
Atoh7 has been believed to be essential for establishing the retinal ganglion cell (RGC) lineage, and Pou4f2 and Isl1 are known to regulate RGC specification and differentiation. Here we report our further stu...
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Article
Open AccessComparative genomic analysis of a Shiga toxin-producing Escherichia coli (STEC) O145:H25 associated with a severe pediatric case of hemolytic uremic syndrome in Davidson County, Tennessee, US
Shiga toxin-producing E. coli (STECs) are foodborne pathogens associated with bloody diarrhea and hemolytic uremic syndrome (HUS). Although the STEC O157 serogroup accounts for the highest number of infections, H...
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Article
Open AccessEndothelialization of arterial vascular grafts by circulating monocytes
Recently our group demonstrated that acellular tissue engineered vessels (A-TEVs) comprised of small intestinal submucosa (SIS) immobilized with heparin and vascular endothelial growth factor (VEGF) could be i...
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Article
Open AccessMYCN amplification and ATRX mutations are incompatible in neuroblastoma
Aggressive cancers often have activating mutations in growth-controlling oncogenes and inactivating mutations in tumor-suppressor genes. In neuroblastoma, amplification of the MYCN oncogene and inactivation of th...
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Article
Open AccessThermotolerance in the pathogen Cryptococcus neoformans is linked to antigen masking via mRNA decay-dependent reprogramming
A common feature shared by systemic fungal pathogens of environmental origin, such as Cryptococcus neoformans, is their ability to adapt to mammalian core body temperature. In C. neoformans, this adaptation is ac...
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Article
Open AccessClinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome
To evaluate the potential of an integrated clinical test to detect diverse classes of somatic and germline mutations relevant to pediatric oncology, we performed three-platform whole-genome (WGS), whole exome ...
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Article
Open AccessGenome-wide segregation of single nucleotide and structural variants into single cancer cells
Single-cell genome sequencing provides high-resolution details of the clonal genomic modifications that occur during cancer initiation, progression, and ongoing evolution as patients undergo treatment. One lim...
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Article
The genomic landscape of core-binding factor acute myeloid leukemias
Lars Bullinger, **ghui Zhang, Jeffery Klco, James Downing and colleagues report a detailed genomic analysis of pediatric and adult core-binding factor acute myeloid leukemias (CBF-AMLs). They identify recurre...
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Article
The landscape of somatic mutations in infant MLL-rearranged acute lymphoblastic leukemias
Anna Andersson, Tanja Gruber, James Downing and colleagues report a genomic analysis of infant acute lymphoblastic leukemias with MLL rearrangements. They identify recurrent activating mutations in tyrosine kinas...
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Article
Open AccessRise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia
There is incomplete understanding of genetic heterogeneity and clonal evolution during cancer progression. Here we use deep whole-exome sequencing to describe the clonal architecture and evolution of 20 pediat...
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Article
Genomic landscape of paediatric adrenocortical tumours
Paediatric adrenocortical carcinoma is a rare malignancy with poor prognosis. Here we analyse 37 adrenocortical tumours (ACTs) by whole-genome, whole-exome and/or transcriptome sequencing. Most cases (91%) sho...
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Article
The landscape of somatic mutations in epigenetic regulators across 1,000 paediatric cancer genomes
Studies of paediatric cancers have shown a high frequency of mutation across epigenetic regulators. Here we sequence 633 genes, encoding the majority of known epigenetic regulatory proteins, in over 1,000 paed...
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Correction: Corrigendum: C11orf95–RELA fusions drive oncogenic NF-κB signalling in ependymoma
Nature 506, 451–455 (2014); doi:10.1038/nature13109 In this Article, author Jared Becksfort’s surname was incorrectly spelled ‘Becksford’. Also, his affiliation should be the Department of Computational Biolog...
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C11orf95–RELA fusions drive oncogenic NF-κB signalling in ependymoma
Members of the nuclear factor-κB (NF-κB) family of transcriptional regulators are central mediators of the cellular inflammatory response. Although constitutive NF-κB signalling is present in most human tumour...