V van Heyningen

Summary

Affiliation: National Institute for Medical Research
Country: UK

Publications

  1. ncbi request reprint Mechanisms of non-Mendelian inheritance in genetic disease
    Veronica van Heyningen
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
    Hum Mol Genet 13:R225-33. 2004
  2. ncbi request reprint Advice to governments: scientific give and take
    Veronica van Heyningen
    Medical Research Council Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK
    Nat Rev Genet 3:631-6. 2002
  3. ncbi request reprint PAX6 in sensory development
    Veronica van Heyningen
    MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK
    Hum Mol Genet 11:1161-7. 2002
  4. ncbi request reprint The reticulocalbin gene maps to the WAGR region in human and to the Small eye Harwell deletion in mouse
    J Kent
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom
    Genomics 42:260-7. 1997
  5. ncbi request reprint Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities
    A Schedl
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom
    Cell 86:71-82. 1996
  6. ncbi request reprint Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations
    I Hanson
    MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK
    Hum Mol Genet 8:165-72. 1999
  7. ncbi request reprint Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6
    D A Kleinjan
    MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK
    Hum Mol Genet 10:2049-59. 2001
  8. ncbi request reprint Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion
    M H Little
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
    Hum Mol Genet 2:259-64. 1993
  9. ncbi request reprint Role of Pax6 in development of the cerebellar system
    D Engelkamp
    MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, Scotland
    Development 126:3585-96. 1999
  10. pmc The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases
    R Axton
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
    J Med Genet 34:279-86. 1997

Collaborators

Detail Information

Publications39

  1. ncbi request reprint Mechanisms of non-Mendelian inheritance in genetic disease
    Veronica van Heyningen
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
    Hum Mol Genet 13:R225-33. 2004
    ..However, detailed examination of the different mechanisms that underlie non-Mendelian segregation provides insight into the types of interaction that regulate more complex disease genetics...
  2. ncbi request reprint Advice to governments: scientific give and take
    Veronica van Heyningen
    Medical Research Council Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK
    Nat Rev Genet 3:631-6. 2002
  3. ncbi request reprint PAX6 in sensory development
    Veronica van Heyningen
    MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK
    Hum Mol Genet 11:1161-7. 2002
    ..Upstream regulators and a multitude of downstream targets of PAX6 have been identified, and its varied tissue-specific functions are emerging...
  4. ncbi request reprint The reticulocalbin gene maps to the WAGR region in human and to the Small eye Harwell deletion in mouse
    J Kent
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom
    Genomics 42:260-7. 1997
    ..Loss of the reticulocalbin gene could contribute to the early lethality of SeyH and SeyDey homozygotes...
  5. ncbi request reprint Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities
    A Schedl
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom
    Cell 86:71-82. 1996
    ..Thus, at least five different eye phenotypes are associated with changes in PAX6 expression. We provide evidence that not only reduced, but also increased levels of transcriptional regulators can cause developmental defects...
  6. ncbi request reprint Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations
    I Hanson
    MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK
    Hum Mol Genet 8:165-72. 1999
    ..Our results support the hypothesis that the under-representation of missense mutations is caused by ascertainment bias and suggest that a substantial burden of PAX6 -related disease remains to be uncovered...
  7. ncbi request reprint Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6
    D A Kleinjan
    MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK
    Hum Mol Genet 10:2049-59. 2001
    ..Components of this downstream regulatory region drive reporter expression in distinct partial PAX6 patterns, indicating that the functional PAX6 gene domain extends far beyond the transcription unit...
  8. ncbi request reprint Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion
    M H Little
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
    Hum Mol Genet 2:259-64. 1993
    ....
  9. ncbi request reprint Role of Pax6 in development of the cerebellar system
    D Engelkamp
    MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, Scotland
    Development 126:3585-96. 1999
    ..Our results suggest that Pax6 plays a strong role during hindbrain migration processes and at least part of its activity is mediated through regulation of the netrin receptor Unc5h3...
  10. pmc The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases
    R Axton
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
    J Med Genet 34:279-86. 1997
    ..SSCP analysis of individually amplified exons, with which nine of the 10 mutations were seen, was the most useful detection method for PAX6...
  11. ncbi request reprint Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly
    I M Hanson
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
    Nat Genet 6:168-73. 1994
    ..We therefore propose that a variety of anterior segment anomalies may be associated with PAX6 mutations...
  12. ncbi request reprint PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation
    A Malandrini
    Institute of Neurological Sciences, Medical Research Council, Western General Hospital, Edinburgh, UK
    Clin Genet 60:151-4. 2001
    ..We suggest that this missense mutation is responsible both for aniridia and ptosis, and possibly also for the observed cognitive dysfunction in this family...
  13. ncbi request reprint Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations
    R A Axton
    Human Genetics Unit, Medical Research Council, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, Scotland
    Mol Cell Probes 11:287-92. 1997
    ..Six previously unreported aniridia mutations in PAX6 are also described....
  14. ncbi request reprint Transcription factors in disease
    D Engelkamp
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
    Curr Opin Genet Dev 6:334-42. 1996
    ..Position effects with cytogenetic rearrangements well outside the coding region have been implicated for four of the genes discussed: POU3F4, SOX9, PAX6, and GL13...
  15. ncbi request reprint PAX6 mutations reviewed
    J Prosser
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
    Hum Mutat 11:93-108. 1998
    ..In a gene with such extraordinarily high sequence conservation throughout evolution, there are presumed undiscovered missense mutations, these are hypothesized to exist in as-yet unidentified phenotypes...
  16. pmc A new PAX6 mutation in familial aniridia
    I Hanson
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
    J Med Genet 32:488-9. 1995
    ..The mutation is a single nucleotide change which, although occurring within an exon, affects the splice junction consensus and results in skipping of that exon...
  17. ncbi request reprint PAX6 mutations in aniridia
    I M Hanson
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
    Hum Mol Genet 2:915-20. 1993
    ..These mutations highlight regions of the gene which are essential for normal PAX6 function. In addition, the frequency at which we have found PAX6 mutations suggests that lesions in PAX6 will account for most cases of aniridia...
  18. ncbi request reprint Pax6: more than meets the eye
    I Hanson
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
    Trends Genet 11:268-72. 1995
    ..Mutations that reduce Pax6 dosage cause dominantly inherited eye malformations in man and mouse. Remarkably, it has now been found that Drosophila has a homologue of Pax6, which also plays a key role in eye development...
  19. ncbi request reprint Mouse small eye results from mutations in a paired-like homeobox-containing gene
    R E Hill
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
    Nature 354:522-5. 1991
    ..Here we report the analysis of three independent Sey alleles and show that indeed this gene is mutated and that the mutations would predictably interrupt gene function...
  20. ncbi request reprint Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2
    A M Hever
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
    Clin Genet 69:459-70. 2006
    ..These interactions also help us understand why there is significant phenotypic overlap between mutations at these three loci...
  21. ncbi request reprint The evolution of WT1 sequence and expression pattern in the vertebrates
    J Kent
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, Scotland, UK
    Oncogene 11:1781-92. 1995
    ..A wider role in mesodermal differentiation is suggested by expression in some paraxial and lateral mesoderm derivatives...
  22. ncbi request reprint Subnuclear localization of WT1 in splicing or transcription factor domains is regulated by alternative splicing
    S H Larsson
    Medical Research Council Human Genetics Unit, Western General Hospital, Edinburgh, Scotland
    Cell 81:391-401. 1995
    ..We propose that WT1 plays roles in posttranscriptional processing of RNA as well as in transcription...
  23. pmc The Human PAX6 Mutation Database
    A Brown
    Medical Research Council Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK
    Nucleic Acids Res 26:259-64. 1998
    ....
  24. ncbi request reprint Expression pattern of two related cystic fibrosis-associated calcium-binding proteins in normal and abnormal tissues
    M M Wilkinson
    Department of Medicine, Western General Hospital, Edinburgh, UK
    J Cell Sci 91:221-30. 1988
    ..abstract truncated at 250 words)..
  25. pmc Human cytochrome P-450 PB-1: a multigene family involved in mephenytoin and steroid oxidations that maps to chromosome 10
    R R Meehan
    Molecular Genetics Section, Western General Hospital, Edinburgh, Scotland
    Am J Hum Genet 42:26-37. 1988
    ..1-10q24.3. The endogenous role of this enzyme appears to be in steroid oxidations. This cytochrome P-450 family does not correspond to any of the hepatic cytochrome P-450 gene families previously mapped in humans...
  26. pmc FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality
    J A Fantes
    Medical and Developmental Genetics Section, Medical Research Council MRC, Human Genetics Unit, Edinburgh EH4 2XU, Scotland, UK
    Am J Hum Genet 82:916-26. 2008
    ..Our results suggest that the large-scale genomic context of the breakpoint has prognostic utility and that the pathological mechanism of mapping to an R-band cannot be accounted for by direct gene inactivation...
  27. pmc Zinc finger point mutations within the WT1 gene in Wilms tumor patients
    M H Little
    Medical Research Council Human Genetics Unit, Western General Hospital, Edinburgh, Scotland
    Proc Natl Acad Sci U S A 89:4791-5. 1992
    ..The detection of one nonsense point mutation and one missense WT1 gene point mutation adds to the accumulating evidence implicating this gene in a proportion of Wilms tumor patients...
  28. ncbi request reprint Human olfactory marker protein maps close to tyrosinase and is a candidate gene for Usher syndrome type I
    K L Evans
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
    Hum Mol Genet 2:115-8. 1993
    ..OMP is thus a candidate gene for both congenital deafness defects...
  29. ncbi request reprint The human PAX6 gene is mutated in two patients with aniridia
    T Jordan
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
    Nat Genet 1:328-32. 1992
    ..Mutations in Pax-6 have been described previously in Small eye, the proposed mouse model for aniridia. We present new phenotypic evidence for the validity of this mouse model...
  30. ncbi request reprint Mouse mutations and human disorders are paired
    R Hill
    Western General Hospital, Edinburgh, UK
    Trends Genet 8:119-20. 1992
  31. ncbi request reprint Colocalization of the human CD59 gene to 11p13 with the MIC11 cell surface antigen
    W A Bickmore
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, Scotland
    Genomics 17:129-35. 1993
    ..This localization and the results of immunoprecipitation experiments suggest that the CD59 gene could encode the MIC11 antigen; alternatively this region of 11p13 may contain a cluster of genes encoding cell surface molecules...
  32. ncbi request reprint Related calcium-binding proteins map to the same subregion of chromosome 1q and to an extended region of synteny on mouse chromosome 3
    J R Dorin
    Medical Research Council, Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom
    Genomics 8:420-6. 1990
    ..Cacy is shown to be within 8 kb of Capl in the mouse genome...
  33. ncbi request reprint Cognitive functioning in humans with mutations of the PAX6 gene
    P J Thompson
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, UK
    Neurology 62:1216-8. 2004
    ....
  34. ncbi request reprint Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region
    C C Ton
    Department of Biochemistry and Molecular Biology, University of Texas M D Anderson Cancer Center, Houston 77030
    Cell 67:1059-74. 1991
    ..The concordance between expression and pathology, map location, structure, and predicted function argues that the cDNA corresponds to the AN gene...
  35. ncbi request reprint Pax6 controls progenitor cell identity and neuronal fate in response to graded Shh signaling
    J Ericson
    Howard Hughes Medical Institute, Department of Biochemistry and Molecular Biophysics, Columbia University, New York, New York 10032, USA
    Cell 90:169-80. 1997
    ..2. Pax6 establishes distinct ventral progenitor cell populations and controls the identity of motor neurons and ventral interneurons, mediating graded Shh signaling in the ventral spinal cord and hindbrain...
  36. ncbi request reprint EYA4, a novel vertebrate gene related to Drosophila eyes absent
    G Borsani
    Telethon Institute of Genetics and Medicine, Universit√° Vita e Salute San Raffaele and Department of Biological Technological Research DIBIT, San Raffaele Biomedical Science Park, Milan, Italy
    Hum Mol Genet 8:11-23. 1999
    ..On the basis of map position and expression pattern, EYA4 is a candidate for oculo-dento-digital (ODD) syndrome, but no EYA4 mutations were found in a panel of ODD patients...
  37. ncbi request reprint Report of the fourth international workshop on human chromosome 11 mapping 1994
    V van Heyningen
    Cytogenet Cell Genet 69:127-58. 1995
  38. ncbi request reprint Genetics. One gene--four syndromes
    V van Heyningen
    Nature 367:319-20. 1994
  39. pmc National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology
    D Morrison
    Public Health Sciences, University of Edinburgh, Teviot Place, Edinburgh EH8 9AG, UK
    J Med Genet 39:16-22. 2002
    ..No pathogenic mutations were identified in the OFCD cases. A single PAX6 homeodomain missense mutation was identified in a subject with partial aniridia that had been initially misclassified as coloboma...