R Dalgleish

Summary

Affiliation: University of Leicester
Country: UK

Publications

  1. pmc The Human Collagen Mutation Database 1998
    R Dalgleish
    Department of Genetics, University of Leicester, University Road, Leicester LE1 7RH, UK
    Nucleic Acids Res 26:253-5. 1998
  2. pmc The human type I collagen mutation database
    R Dalgleish
    Department of Genetics, University of Leicester, University Road, Leicester LE1 7RH, UK
    Nucleic Acids Res 25:181-7. 1997
  3. ncbi request reprint A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals
    N J Rose
    Department of Genetics, University of Leicester, UK
    Hum Mutat 3:391-4. 1994
  4. ncbi request reprint SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II
    K MacKay
    Department of Genetics, University of Leicester, UK
    Hum Genet 91:439-44. 1993
  5. ncbi request reprint A novel glycine to glutamic acid substitution at position 343 in the alpha 2 chain of type I collagen in an individual with lethal osteogenesis imperfecta
    N J Rose
    Department of Genetics, University of Leicester, UK
    Hum Mol Genet 2:2175-7. 1993
  6. ncbi request reprint Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the alpha 2-chain of type I collagen
    N J Rose
    Department of Genetics, University of Leicester, UK
    Hum Genet 94:497-503. 1994
  7. ncbi request reprint Substitution of glycine-172 by arginine in the alpha 1 chain of type I collagen in a patient with osteogenesis imperfecta, type III
    K MacKay
    Department of Genetics, University of Leicester
    Hum Mutat 3:324-6. 1994
  8. ncbi request reprint An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta
    K MacKay
    Department of Genetics, University of Leicester, UK
    Hum Mol Genet 2:1155-60. 1993
  9. ncbi request reprint Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation
    K MacKay
    Department of Genetics, University of Leicester, United Kingdom
    Clin Genet 49:286-95. 1996
  10. ncbi request reprint A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III
    K Molyneux
    Department of Genetics, University of Leicester, UK
    Hum Genet 90:621-8. 1993

Collaborators

  • P H Byers
  • A Superti-Furga
  • A M Lund
  • L Nuytinck
  • K MacKay
  • N J Rose
  • M Raghunath
  • B Steinmann
  • K Molyneux
  • A De Paepe
  • H H Punnett
  • B J Starman
  • E Solomon
  • M Miskulin
  • J R Hawkins
  • R Costa
  • B S Mankoo
  • S I Rennard
  • C P Kyriacou
  • B Kluve-Beckerman
  • N Spurr
  • M Kurkinen
  • R G Crystal
  • A A Peixoto
  • B L Hogan
  • D Barlow
  • L R Hiorns
  • P Tolstoshev
  • M Brantly
  • J R Thackeray

Detail Information

Publications19

  1. pmc The Human Collagen Mutation Database 1998
    R Dalgleish
    Department of Genetics, University of Leicester, University Road, Leicester LE1 7RH, UK
    Nucleic Acids Res 26:253-5. 1998
    ..Collagen mutations lead to heritable defects of connective tissues and mutation data for collagen types I and III are presented here. The mutation data are accessible on the world wide web at http://www.le.ac.uk/genetics/collagen/..
  2. pmc The human type I collagen mutation database
    R Dalgleish
    Department of Genetics, University of Leicester, University Road, Leicester LE1 7RH, UK
    Nucleic Acids Res 25:181-7. 1997
    ..Two instances of osteoporosis and a single instance of Marfan syndrome are also the result of mutations at these loci. The mutation data are accessible on the world wide web at http://www.le.ac.uk/depts/ge/collagen/collagen.html..
  3. ncbi request reprint A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals
    N J Rose
    Department of Genetics, University of Leicester, UK
    Hum Mutat 3:391-4. 1994
  4. ncbi request reprint SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II
    K MacKay
    Department of Genetics, University of Leicester, UK
    Hum Genet 91:439-44. 1993
    ..The mutation was shown to have occurred de novo and is thought to result in the OI phenotype...
  5. ncbi request reprint A novel glycine to glutamic acid substitution at position 343 in the alpha 2 chain of type I collagen in an individual with lethal osteogenesis imperfecta
    N J Rose
    Department of Genetics, University of Leicester, UK
    Hum Mol Genet 2:2175-7. 1993
  6. ncbi request reprint Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the alpha 2-chain of type I collagen
    N J Rose
    Department of Genetics, University of Leicester, UK
    Hum Genet 94:497-503. 1994
    ..The heterozygous G to A transition at a CpG dinucleotide results in a Gly502Ser substitution in the alpha 2 chain of type I collagen...
  7. ncbi request reprint Substitution of glycine-172 by arginine in the alpha 1 chain of type I collagen in a patient with osteogenesis imperfecta, type III
    K MacKay
    Department of Genetics, University of Leicester
    Hum Mutat 3:324-6. 1994
  8. ncbi request reprint An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta
    K MacKay
    Department of Genetics, University of Leicester, UK
    Hum Mol Genet 2:1155-60. 1993
    ..The strategy provides a rapid approach to screening for mutations and polymorphisms in alpha 1(I) collagen cDNA and is of general interest in scanning large regions of DNA for sequence changes...
  9. ncbi request reprint Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation
    K MacKay
    Department of Genetics, University of Leicester, United Kingdom
    Clin Genet 49:286-95. 1996
    ..Biochemical and molecular studies can clarify the diagnosis and help provide appropriate management and counselling...
  10. ncbi request reprint A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III
    K Molyneux
    Department of Genetics, University of Leicester, UK
    Hum Genet 90:621-8. 1993
    ..This provides further evidence that OI type III may result from autosomal dominant mutations rather than only from autosomal recessive mutations as had previously been believed...
  11. ncbi request reprint A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III
    N J Rose
    Department of Genetics, University of Leicester, UK
    Hum Genet 95:215-8. 1995
    ..The resulting substitution of the glycine at position 238 of the alpha chain by serine is the most N-terminal yet reported for this chain...
  12. pmc Human pro alpha 1(III) collagen: cDNA sequence for the 3' end
    B S Mankoo
    Department of Genetics, University of Leicester, UK
    Nucleic Acids Res 16:2337. 1988
  13. pmc Human type III collagen 'variant' is a cDNA cloning artefact
    K Molyneux
    Department of Genetics, University of Leicester, UK
    Nucleic Acids Res 16:11833. 1988
  14. ncbi request reprint A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta
    J R Hawkins
    Department of Genetics, University of Leicester, United Kingdom
    J Biol Chem 266:22370-4. 1991
    ..How the mutation produces the lethal osteogenesis imperfecta phenotype is not entirely clear; the data suggest that the interaction of alpha chains immediately prior to helix formation may be affected...
  15. ncbi request reprint Length polymorphism in the threonine-glycine-encoding repeat region of the period gene in Drosophila
    R Costa
    Department of Genetics, University of Leicester, UK
    J Mol Evol 32:238-46. 1991
    ..melanogaster and D. pseudoobscura in the amino acid sequence of the repeats, the predicted secondary structures suggest evolutionary and mechanistic constraints on the per protein of these two species...
  16. pmc Chromosomal assignments of the genes coding for human types II, III, and IV collagen: a dispersed gene family
    E Solomon
    Proc Natl Acad Sci U S A 82:3330-4. 1985
    ..The two genes of type I collagen, COL1A1 and COL2A1, have been mapped previously to chromosomes 17 and 7, respectively. This family of conserved genes seems therefore to be dispersed throughout the genome...
  17. ncbi request reprint Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypes
    L Nuytinck
    Centre for Medical Genetics, University Hospital Ghent, Belgium
    Hum Genet 97:324-9. 1996
    ..The clinical observations in these patients illustrate the possibly predominant role of mutations in the collagen alpha1(I) chains over the same mutations in the alpha2(I) chains in determining the clinical outcome...
  18. ncbi request reprint Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation
    M Raghunath
    Department of Paediatrics, University of Zurich, Switzerland
    Eur J Pediatr 154:123-9. 1995
    ....
  19. ncbi request reprint Human type III collagen gene expression is coordinately modulated with the type I collagen genes during fibroblast growth
    M Miskulin
    Biochemistry 25:1408-13. 1986
    ....