Research Topics
Genomes and Genes | J R YatesSummaryAffiliation: National Institute for Medical Research Country: UK Publications
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Publications
Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotypeJ R Yates
Department of Medical Genetics, Cambridge University, Addenbrooke s Hospital, UK
Neuromuscul Disord 9:159-65. 1999..Age at onset was later for first symptoms and for development of ankle contractures and muscle weakness. These findings have diagnostic implications as well as pointing to functionally important regions of the emerin protein...- Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysisJ R Yates
Department of Pathology, University of Cambridge, Box 134 Addenbrooke s Hospital, Cambridge CB2 2QQ, UK
Hum Mol Genet 6:2265-9. 1997.... - Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophyJ A Ellis
Department of Medical Genetics, University of Cambridge, Cambridge Institute for Medical Research, Addenbrooke s Hospital, UK
Hum Genet 104:262-8. 1999..This is the first report of protein studies on patients with missense mutations resulting in the clinical features of EDMD. These studies demonstrate the importance of proline 183 for the proper structure/function of emerin... 
Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helixA J Richards
Department of Pathology, University of Cambridge, Cambridge, United Kingdom
Am J Hum Genet 67:1083-94. 2000..These data extend the mutation spectrum of the COL2A1 gene and help explain the basis for the different vitreous phenotypes seen in Stickler syndrome...- Two distal mutations in the gene encoding emerin have profoundly different effects on emerin protein expressionJ A Ellis
Department of Medical Genetics, Cambridge Institute of Medical Research, Addenbrooke s Hospital, UK
Neuromuscul Disord 10:24-30. 2000.... - COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromesA J Richards
MRC Connective Tissue Genetics Group, University of Cambridge, Department of Pathology, Cambridge CB2 1QP, UK
Br J Ophthalmol 84:364-71. 2000..To compare the clinical and molecular genetic features of two phenotypically distinct subgroups of families with type 1 Stickler syndrome... - Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotypeJ A Ellis
Department of Pathology, University of Cambridge, Cambridge CB2 2QQ, UK
J Cell Sci 111:781-92. 1998..This data suggests that for emerin to function normally it must be correctly localized, retained at the nuclear membrane and phosphorylated by cell cycle-mediated events... - Exclusion of RAI2 as the causative gene for Nance-Horan syndromeS M Walpole
Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke s Hospital, United Kingdom
Hum Genet 104:410-1. 1999..Direct sequencing of the RAI2 gene and predicted promoter region has revealed no mutations in the families screened; RAI2 is therefore unlikely to be associated with NHS... - A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British familiesN P Burrows
Department of Pathology, University of Cambridge, CB2 2QQ, United Kingdom
Am J Hum Genet 63:390-8. 1998..These findings further confirm the importance of type V collagen in the causation of EDS type II, and the novel collagen mutation indicates the importance of the lariat branch site in splicing... - Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneityS Martin
Department of Pathology, University of Cambridge, UK
Eur J Hum Genet 7:807-14. 1999..In the remaining two families all four loci were excluded by linkage analysis. These data confirm that mutations in COL11A1 cause Stickler syndrome with the type2 vitreous phenotype and also reveal further locus heterogeneity... - Genotype-phenotype correlation in British families with X linked congenital stationary night blindnessL E Allen
Eye Department, Addenbrooke s Hospital, Cambridge, UK
Br J Ophthalmol 87:1413-20. 2003..To correlate the phenotype of X linked congenital stationary night blindness (CSNBX) with genotype... - Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cellsC Grayson
Department of Medical Genetics, The Wellcome Trust Centre for Molecular Mechanisms in Disease, Cambridge Institute for Medical Research, University of Cambridge, Addenbrookes Hospital, Hills Road, Cambridge CB2 2QQ, UK
Hum Mol Genet 9:1873-9. 2000..Thus, X-linked retinoschisis is caused by abnormalities in a putative secreted photoreceptor protein and is the first example of a secreted photo-receptor protein associated with a retinal dystrophy... - Nine novel L1 CAM mutations in families with X-linked hydrocephalusJ R MacFarlane
University of Cambridge Department of Medicine, Addenbrooke s Hospital, Cambridge, UK
Hum Mutat 9:512-8. 1997..Together with a single missense mutation, these latter examples contribute to the growing number of existing mutations that affect short regions of the L1 protein that may have particular functional significance... - Identification and characterization of the human homologue (RAI2) of a mouse retinoic acid-induced gene in Xp22S M Walpole
Department of Medical Genetics, University of Cambridge, Cambridge Institute for Medical Research, Addenbrooke s Hospital, United Kingdom
Genomics 55:275-83. 1999..RAI2 remains a candidate gene for diseases mapping to the Xp22 region... - A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagenA J Richards
Department of Pathology, University of Cambridge, UK
Hum Mol Genet 5:1339-43. 1996.... - Autism, mental retardation, multiple exostoses and short stature in a female with 46,X,t(X;8)(p22.13;q22.1)P Bolton
University of Cambridge, Section of Developmental Psychiatry, UK
Psychiatr Genet 5:51-5. 1995.... - Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34M van Slegtenhorst
Department of Clinical Genetics, Erasmus University and University Hospital, Rotterdam, Netherlands
Science 277:805-8. 1997..In one of these six, a somatic mutation in the wild-type allele was found in a TSC-associated renal carcinoma, which suggests that hamartin acts as a tumor suppressor... - Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of glycoasparaginaseI Mononen
Division of Medical Genetics, Childrens Hospital of Los Angeles, CA 90027
Proc Natl Acad Sci U S A 88:2941-5. 1991..These results indicate molecular homogeneity in aspartylglycosaminuria alleles in the Finnish population... - Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the diseaseS Bione
Istituto di Genetica Biochimica ed Evoluzionistica CNR, Pavia, Italy
Hum Mol Genet 4:1859-63. 1995..Our findings suggest genetic heterogeneity of EDMD, and that at least two genes, the X-linked STA gene and one unidentified autosomal gene, are responsible for the disease... - Utilization of genomic sequence information to develop malaria vaccinesD L Doolan
Malaria Program, Naval Medical Research Center, Silver Spring, MD 20910 7500, USA
J Exp Biol 206:3789-802. 2003..Here, we present our strategy to exploit the genomic sequence of P. falciparum for malaria vaccine development... - Implication of a novel multiprotein Dam1p complex in outer kinetochore functionI M Cheeseman
Department of Molecular and Cell Biology, University of California, Berkeley, CA 94720, USA
J Cell Biol 155:1137-45. 2001..These and other analyses implicate the four newly identified subunits and the Dam1p complex as a whole in outer kinetochore function where they are well positioned to facilitate the association of chromosomes with spindle microtubules... - The yeast SAS (something about silencing) protein complex contains a MYST-type putative acetyltransferase and functions with chromatin assembly factor ASF1S Osada
Howard Hughes Medical Institute HHMI, Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, Pennsylvania 16802 4500, USA
Genes Dev 15:3155-68. 2001..Thus, ASF1-dependent chromatin assembly may mediate the role of the SAS complex in silencing... - Mus81-Eme1 are essential components of a Holliday junction resolvaseM N Boddy
Department of Molecular Biology, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
Cell 107:537-48. 2001..The mus81 meiotic defect is rescued by expression of a bacterial Holliday junction resolvase. These findings constitute strong evidence that Mus81 and Eme1 are subunits of a nuclear Holliday junction resolvase... - p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlationH van Bokhoven
Department of Human Genetics, University Medical Centre, Nijmegen, The Netherlands
Am J Hum Genet 69:481-92. 2001..There appears to be a genotype-phenotype correlation, in that there is a specific pattern of missense mutations in EEC syndrome that are not generally found in SHFM or LMS... - Large-scale analysis of the yeast proteome by multidimensional protein identification technologyM P Washburn
Syngenta Agricultural Discovery Institute, 3115 Merryfield Row, Suite 100, San Diego, CA 92121, USA
Nat Biotechnol 19:242-7. 2001..MudPIT is useful for proteome analysis and may be specifically applied to integral membrane proteins to obtain detailed biochemical information on this unwieldy class of proteins... - Identification and characterization of five new subunits of TRAPPM Sacher
Howard Hughes Medical Institute and the Department of Cell Biology, Yale University School of Medicine, New Haven, CT 06519 1418, USA
Eur J Cell Biol 79:71-80. 2000..Differences between yeast and human TRAPP as well as the relationship of TRAPP subunits to other docking/tethering factors are discussed... - A novel multiple affinity purification tag and its use in identification of proteins associated with a cyclin-CDK complexS Honey
Cold Spring Harbor Laboratories, Cold Spring Harbor, NY 11724, USA
Nucleic Acids Res 29:E24. 2001..Associated proteins were identified using mass spectrometry. These included the known associated proteins Cdc28, Sic1 and Cks1. Several other proteins were found including the 70 kDa chaperone, Ssa1... - TRAPP, a highly conserved novel complex on the cis-Golgi that mediates vesicle docking and fusionM Sacher
Howard Hughes Medical Institute and the Department of Cell Biology, Yale University School of Medicine, New Haven, CT 06510, USA
EMBO J 17:2494-503. 1998..TRAPP contains at least nine other constituents, five of which have been identified and shown to be highly conserved novel proteins... - Serine 727 phosphorylation and activation of cytosolic phospholipase A2 by MNK1-related protein kinasesY Hefner
Departments of Chemistry and Biochemistry, University of Washington, Seattle, Washington 98195, USA
J Biol Chem 275:37542-51. 2000..The results suggest that MNK1 or a closely related kinase is responsible for in vivo phosphorylation of cPLA2 on Ser-727... - Localization of the disulfide bond involved in post-translational processing of glycosylasparaginase and disrupted by a mutation in the Finnish-type aspartylglycosaminuriaA L McCormack
Department of Molecular Biotechnology, University of Washington, Seattle 98195
J Biol Chem 270:3212-5. 1995..The disulfide bond crucial for catalytic activity, subunit processing, and biological transport of glycosylasparaginase was located close to the carboxyl terminus of the heavy chain at positions 163 and 179... - Elastin: mutational spectrum in supravalvular aortic stenosisK Metcalfe
University Department of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Manchester, UK
Eur J Hum Genet 8:955-63. 2000..SVAS shows variable penetrance within families but the progressive nature of the disorder in some cases, makes identification of the molecular lesions important for future preventative treatments...