Research Topics
Genomes and GenesSpecies | J E HewittSummaryAffiliation: University of Nottingham Country: UK Publications
| Collaborators
|
Detail Information
Publications
A family history of DUX4: phylogenetic analysis of DUXA, B, C and Duxbl reveals the ancestral DUX geneAndreas Leidenroth
Centre for Genetics and Genomics, School of Biology, The University of Nottingham, Queens Medical Centre, Nottingham NG7 2UH, UK
BMC Evol Biol 10:364. 2010..Here, we investigate the evolutionary history of this multi-member double-homeobox gene family in eutherian mammals...
Glycomarkers for muscular dystrophyJane E Hewitt
Centre for Genetics and Genomics, School of Biology, Queen s Medical Centre, University of Nottingham, Nottingham NG7 2UH, UK
Biochem Soc Trans 39:336-9. 2011..Genetic heterogeneity indicates that other genes are involved in this pathway. Identification of these additional genes would increase our understanding of this specific and essential glycosylation pathway...
Abnormal glycosylation of dystroglycan in human genetic diseaseJane E Hewitt
Institute of Genetics, School of Biology, Queen s Medical Centre, University of Nottingham, Nottingham NG7 2UH, UK
Biochim Biophys Acta 1792:853-61. 2009....
Glycosylation defects in inherited muscle diseaseJ E Hewitt
Institute of Genetics, Queen s Medical Centre, University of Nottingham, Nottingham NG7 2UH, United Kingdom
Cell Mol Life Sci 60:251-8. 2003..Recent data have shown that there is altered glycosylation of the protein and that this reduces its ability to bind to extracellular matrix ligands such as laminin and agrin...
Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouseP K Grewal
Institute of Genetics, Queen s Medical Centre, University of Nottingham, Nottingham NG7 2UH, UK
Nat Genet 28:151-4. 2001..We speculate that abnormal post-translational modification of alpha-dystroglycan may contribute to the myd phenotype...
Intron loss in the SART1 genes of Fugu rubripes and Tetraodon nigroviridisD J Bolland
Institute of Genetics, Queen s Medical Centre, University of Nottingham, Nottingham, NG7 2UH, UK
Gene 271:43-9. 2001..The Fugu and Tetraodon SART1 genes encode putative proteins of 772 and 774 aa, respectively, each having 65% amino acid identity to human SART1. Leucine zipper and basic motifs are conserved in the predicted Fugu and Tetraodon proteins...
The murine urea transporter genes Slc14a1 and Slc14a2 occur in tandem on chromosome 18R A Fenton
School of Biological Science, University of Manchester, UK
Cytogenet Cell Genet 87:95-6. 1999
Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb elementJ Gabriels
Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium
Gene 236:25-32. 1999..In conclusion, we propose that each of the 3.3kb elements in the partially deleted D4Z4 locus could include a DUX4 gene encoding a double homeodomain protein...
FRG1, a gene in the FSH muscular dystrophy region on human chromosome 4q35, is highly conserved in vertebrates and invertebratesP K Grewal
School of Biological Sciences, The University of Manchester, 3 239 Stopford Building, Oxford Rd, Manchester M13 9PT, UK
Gene 216:13-9. 1998..We have also identified FRG1 homologues in two nematodes; Caenorhabditis elegans and Brugia malayi. The FRG1 protein is highly conserved and contains a lipocalin sequence motif, suggesting it may function as a transport protein...
High-resolution mapping of mouse chromosome 8 identifies an evolutionary chromosomal breakpointP K Grewal
School of Biological Sciences, The University of Manchester, 3 239 Stopford Building, Oxford Rd, Manchester M13 9PT, UK
Mamm Genome 9:603-7. 1998..Thus, this YAC spans an evolutionary chromosomal breakpoint. As well as providing clues about chromosomal evolution, this map of the FSHD syntenic mouse region should prove invaluable in the isolation of candidate genes for this disease...
The mouse homolog of FRG1, a candidate gene for FSHD, maps proximal to the myodystrophy mutation on chromosome 8P K Grewal
School of Biological Sciences, The University of Manchester, 3 239 Stopford Building, Oxford Road, Manchester, M13 9PT, UK
Mamm Genome 8:394-8. 1997..Using a cross segregating the myd mutation and the European Collaborative Interspecific Backcross, we showed that Frg1 maps proximal to the myd locus and to the Clc3 and Ant1 genes...
Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35J C van Deutekom
MGC Department of Human Genetics, Leiden University, The Netherlands
Hum Mol Genet 5:581-90. 1996..No evidence for PEV mediated repression of allelic transcription was obtained in these tissues. However, detection of PEV in FSHD patients may require analysis of more specific cell types at particular developmental stages...
