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Fanconi anemia is associated with a defect in the BRCA2 partner PALB2
The Fanconi anemia and BRCA networks are considered interconnected, as BRCA2 gene defects have been discovered in individuals with Fanconi anemia subtype D1. Here we show that a defect in theExpand
RNA-Seq of Tumor-Educated Platelets Enables Blood-Based Pan-Cancer, Multiclass, and Molecular Pathway Cancer Diagnostics
Summary Tumor-educated blood platelets (TEPs) are implicated as central players in the systemic and local responses to tumor growth, thereby altering their RNA profile. We determined the diagnosticExpand
Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies.
BACKGROUND Retinoblastoma is the childhood retinal cancer that defined tumour-suppressor genes. Previous work shows that mutation of both alleles of the RB1 retinoblastoma suppressor gene initiatesExpand
Identification of the Fanconi Anemia Complementation Group I Gene, FANCI
To identify the gene underlying Fanconi anemia (FA) complementation group I we studied informative FA-I families by a genome-wide linkage analysis, which resulted in 4 candidate regions togetherExpand
Mutant huntingtin represses CBP, but not p300, by binding and protein degradation
Huntington's disease can be used as a model to study neurodegenerative disorders caused by aggregation-prone proteins. It has been proposed that the entrapment of transcription factors in aggregatesExpand
IκBα is a target for the mitogen‐activated 90 kDa ribosomal S6 kinase
The activity of transcription factor NFκB is regulated by its subcellular localization. In most cell types, NFκB is sequestered in the cytoplasm due to binding of the inhibitory protein IκBα.Expand
A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51
Fanconi anaemia (FA) is a hereditary disease featuring hypersensitivity to DNA cross-linker-induced chromosomal instability in association with developmental abnormalities, bone marrow failure and aExpand
Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes
Retinoblastoma is a rare childhood cancer initiated by RB1 mutation or MYCN amplification, while additional alterations may be required for tumor development. However, the view on single nucleotideExpand
Strong aggregation and increased toxicity of polyleucine over polyglutamine stretches in mammalian cells.
Expansion of a Glutamine (Gln) repeat above a specific critical size in certain proteins gives rise to aggregation-prone proteins that cause neurodegenerative disorders, such as Huntington's disease.Expand
Yeast general transcription factor GFI: sequence requirements for binding to DNA and evolutionary conservation.
GFI is an abundant DNA binding protein in the yeast S. cerevisiae. The protein binds to specific sequences in both ARS elements and the upstream regions of a large number of genes and is likely toExpand
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