• Publications
  • Influence
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
These studies provide compelling evidence that defects in pendrin cause Pendred syndrome thereby launching a new area of investigation into thyroid physiology, the pathogenesis of congenital deafness and the role of altered sulphate transport in human disease. Expand
The ENCODE (ENCyclopedia Of DNA Elements) Project
The ENCyclopedia Of DNA Elements (ENCODE) Project is organized as an international consortium of computational and laboratory-based scientists working to develop and apply high-throughput approaches for detecting all sequence elements that confer biological function. Expand
The Genome of the Ctenophore Mnemiopsis leidyi and Its Implications for Cell Type Evolution
The genome of the ctenophore the warty comb jelly or sea walnut, Mnemiopsis leidyi, is sequenced and it is concluded that c tenophores alone, not sponges or the clade consisting of both ctenphores and cnidarians, are the most basal extant animals. Expand
Characterization of the CHD family of proteins.
This finding suggested that enhanced transcriptional arrest at RNA polymerase II pause sites due to 6-azauracil-induced nucleotide pool depletion was reduced in the deletion strain and that ScCHD1 inhibited transcription, suggests that alteration of gene expression by CHD genes might occur by modifications of chromatin structure, with altered access of the transcriptional apparatus to its chromosome DNA template. Expand
Bioinformatics - a practical guide to the analysis of genes and proteins
  • A. Baxevanis
  • Biology, Computer Science
  • Methods of biochemical analysis
  • 4 May 2001
This work focuses on the development of novel approaches to biological analysis using Perl to Facilitate Biological Analysis and its applications in proteomics and Protein Identification. Expand
MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability
The cloning and complete genomic sequence of MLH3 is described, which encodes a new DNA mismatch repair protein that interacts with MLH1, which is more similar to mismatch repair proteins from yeast, plants, worms and bacteria than to any known mammalian protein, suggesting that its conserved sequence may confer unique functions in mice and humans. Expand
Pre-Bilaterian Origins of the Hox Cluster and the Hox Code: Evidence from the Sea Anemone, Nematostella vectensis
Phylogenetic, developmental, and genomic analyses on the cnidarian sea anemone Nematostella vectensis challenge recent claims that the Hox code is a bilaterian invention and that no “true” Hox genes exist in the phylum Cnidaria. Expand
Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever
The cloning of the FMF gene promises to shed light on the regulation of acute inflammatory responses and is described as a member of a family of nuclear factors homologous to the Ro52 autoantigen. Expand
Molecular evolution of the homeodomain family of transcription factors.
The phylogenetic analysis, coupled with the chromosomal localization of these genes, provides powerful clues as to how each of these classes arose from the ancestral homeodomain. Expand
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.
It is shown that heterozygous loss-of-function mutations in the human GDF1 gene contribute to cardiac defects ranging from tetralogy of Fallot to transposition of the great arteries and that decreased TGF- beta signaling provides a framework for understanding their pathogenesis. Expand