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Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
The translocation t(8;16)(p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREB–binding protein
It is suggested that MOZ may represent a chromatin-associated acetyltransferase, and the possibility that a dominant MOZ–CBP fusion protein could mediate leukaemogenesis via aberrant chromatin acetylation is raised.
The t(7;11)(p15;p15) translocation in acute myeloid leukaemia fuses the genes for nucleoporin NUP96 and class I homeoprotein HOXA9
The t(7;11)(p15;p15) translocation is a recurrent chromosomal abnormality associated primarily with acute myeloid leukaemia (FAB M2 and M4) and the predicted NUP98–HOXA9 fusion protein may promote leukaemogenesis through inhibition of HOXA 9-mediated terminal differentiation and/or aberrant nucleocytoplasmic transport.
Screening Large‐Insert Libraries by Hybridization
- Mark T. Ross (gridding: YAC, BAC, and PAC colony hybridiza, Sam LaBrie (BAC/PAC colony hybridization and analysis), John McPherson (overgo probes and hybridization), V. Stanton
- 1 May 1999
Support protocols indicate the procedures for identifying the plate and well address of positive clones by manual and software‐assisted methods and describe the use of 96‐well plates to radiolabel and spin‐column‐purify large numbers of probes.
Pharmacogenetic Study of Statin Therapy and Cholesterol Reduction
- D. Chasman, D. Posada, L. Subrahmanyan, N. Cook, V. Stanton, P. Ridker
- Biology, Medicine
- 16 June 2004
Individuals heterozygous for a genetic variant in the HMG-CoA reductase gene may experience significantly smaller reductions in cholesterol when treated with pravastatin.
Analysis and exploration of the use of rule-based algorithms and consensus methods for the inferral of haplotypes.
- S. Orzack, D. Gusfield, Jeffrey Olson, S. Nesbitt, L. Subrahmanyan, V. Stanton
- 1 October 2003
The difficulty of experimental determination of haplotypes from phase-unknown genotypes has stimulated the development of nonexperimental inferral methods. One well-known approach for a group of…
The peripheral myelin gene PMP–22/GAS–3 is duplicated in Charcot–Marie–Tooth disease type 1A
It is shown that the human homologue of the murine pmp–22 gene is located within the CMT1A DNA duplication, which is a direct repeat and does not interrupt the coding region of PMP–22.
Definition of the human raf amino-terminal regulatory region by deletion mutagenesis.
- V. Stanton, D. W. Nichols, A. Laudano, G. Cooper
- BiologyMolecular and cellular biology
- 1 February 1989
5' truncation alone can activate raf transforming potential, with a sharp peak of activation around amino acid 300, and three raf genes previously detected by transfection of tumor DNAs indicated that they were activated by recombination in raf intron 7 and encoded fusion proteins containing amino-terminal non-raf sequences.
Single-nucleotide polymorphisms can cause different structural folds of mRNA.
The observation of marked differences in mRNA secondary structure associated with SNPs in the coding regions of two human mRNAs is reported, and it is found that the SNP exerts an allele-specific effect on the accessibility of its flanking site in the endogenous human RPA70 mRNA.