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Multicolor Spectral Karyotyping of Human Chromosomes
Whole-genome scanning by spectral karyotyping allowed instantaneous visualization of defined emission spectra for each human chromosome after fluorescence in situ hybridization, and all human chromosomes were simultaneously identified. Expand
SIRT6 is a histone H3 lysine 9 deacetylase that modulates telomeric chromatin
The human SIRT6 protein is an NAD+-dependent, histone H3 lysine 9 (H3K9) deacetylase that modulates telomeric chromatin and contributes to the propagation of a specialized chromatin state at mammalian telomeres, which in turn is required for proper telomere metabolism and function. Expand
Atm-Deficient Mice: A Paradigm of Ataxia Telangiectasia
Atm-disrupted mice recapitulate the ataxia telangiectasia phenotype in humans, providing a mammalian model in which to study the pathophysiology of this pleiotropic disorder. Expand
Conditional mutation of Brca1 in mammary epithelial cells results in blunted ductal morphogenesis and tumour formation
It is demonstrated that disruption of Brca1 causes genetic instability and triggers further alterations, including the inactivation of p53, that lead to tumour formation. Expand
Impaired DNA damage response, genome instability, and tumorigenesis in SIRT1 mutant mice.
It is demonstrated that Sirt1(+/-) mice develop tumors in multiple tissues, whereas activation of SIRT1 by resveratrol treatment reduces tumorigenesis, and it is shown that many human cancers exhibit reduced levels ofSIRT1 compared to normal controls. Expand
Centrosome amplification and a defective G2-M cell cycle checkpoint induce genetic instability in BRCA1 exon 11 isoform-deficient cells.
It is shown that mouse embryonic fibroblast cells carrying a targeted deletion of exon 11 of the Brca1 gene maintain an intact G1-S cell cycle checkpoint and proliferate poorly, however, a defective G2-M checkpoint in these cells is accompanied by extensive chromosomal abnormalities. Expand
Positional stability of single double-strand breaks in mammalian cells
It is demonstrated that broken ends are positionally stable and unable to roam the cell nucleus, which supports a contact-first model in which chromosome translocations predominantly form among spatially proximal DSBs. Expand
From Silencing to Gene Expression Real-Time Analysis in Single Cells
An inducible system to visualize gene expression at the levels of DNA, RNA and protein in living cells is developed, able to correlate changes in chromatin structure with the progression of transcriptional activation allowing for a real-time integrative view of gene expression. Expand
H2AX Haploinsufficiency Modifies Genomic Stability and Tumor Susceptibility
H2AX is established as genomic caretaker that requires the function of both gene alleles for optimal protection against tumorigenesis, and is shown to compromises genomic integrity and enhances the susceptibility to cancer in the absence of p53. Expand
AID is required to initiate Nbs1/γ-H2AX focus formation and mutations at sites of class switching
It is reported that the Nijmegen breakage syndrome protein and phosphorylated H2A histone family member X (γ-H2AX) form nuclear foci at the Ch region in the G1 phase of the cell cycle in cells undergoing CSR, and that switching is impaired in H2AX-/- mice. Expand