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X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
TLDR
Five different missense mutations in five unrelated patients were subsequently identified in XAP101, indicating that it is the gene responsible for X-linked DKC (DKC1), which is the orthologue of rat NAP57 and Saccharomyces cerevisiae CBF5. Expand
Dissecting the genomic complexity underlying medulloblastoma
TLDR
An integrative deep-sequencing analysis of 125 tumour–normal pairs enhances the understanding of the genomic complexity and heterogeneity underlying medulloblastoma, and provides several potential targets for new therapeutics, especially for Group 3 and 4 patients. Expand
DMBT1, a new member of the SRCR superfamily, on chromosome 10q25.3–26.1 is deleted in malignant brain tumours
TLDR
It is suggested that DMBT1 is a putative tumour-suppressor gene implicated in the carcinogenesis of medulloblastoma and glioblastomas multiforme. Expand
Solitary fibrous tumors/hemangiopericytomas with different variants of the NAB2-STAT6 gene fusion are characterized by specific histomorphology and distinct clinicopathological features.
TLDR
Molecular genetic findings support the concept that classic pleuropulmonary SFT and deep-seated HPC are separate entities that share common features but correlate to different clinical outcome. Expand
MicroRNA-200c Represses Migration and Invasion of Breast Cancer Cells by Targeting Actin-Regulatory Proteins FHOD1 and PPM1F
TLDR
Modulation of miR-200c in breast cancer cells regulates cell migration, cell elongation, and transforming growth factor β (TGF-β)-induced stress fiber formation by impacting the reorganization of cytoskeleton that is independent of the ZEB/E-cadherin axis. Expand
Modeling ERBB receptor-regulated G1/S transition to find novel targets for de novo trastuzumab resistance
TLDR
This study connected ERBB signaling with G1/S transition of the cell cycle via two major cell signaling pathways and two key transcription factors, to model an interaction network that allows for the identification of novel targets in the treatment of trastuzumab resistant breast cancer. Expand
Systematic subcellular localization of novel proteins identified by large‐scale cDNA sequencing
TLDR
A novel cloning technology is used to rapidly generate N‐ and C‐terminal green fluorescent protein fusions of cDNAs to examine the intracellular localizations of >100 expressed fusion proteins in living cells. Expand
Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma
TLDR
GFI1 and GFI1B are identified as prominent medulloblastoma oncogenes and ‘enhancer hijacking’ is implicate as an efficient mechanism driving oncogene activation in a childhood cancer. Expand
Complete DNA sequence of yeast chromosome XI
TLDR
The complete DNA sequence of the yeast Saccharomyces cerevisiae chromosome XI has been determined, and the 666,448-base-pair sequence has revealed general chromosome patterns. Expand
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.
TLDR
Most cases of familial incontinentia pigmenti are due to mutations of this locus and that a new genomic rearrangement accounts for 80% of new mutations, which means NF-kappaB activation is defective in IP cells. Expand
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