N V Whittock

Summary

Affiliation: King's College London
Country: UK

Publications

  1. ncbi Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5
    N V Whittock
    Department of Cell and Molecular Pathology, St John s Institute of Dermatology, London, United Kingdom
    Biochem Biophys Res Commun 274:149-52. 2000
  2. ncbi Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome
    N V Whittock
    Department of Cell and Molecular Pathology, St John s Institute of Dermatology, The Guy s, King s College, and St Thomas Hospitals Medical School, St Thomas Hospital, London, U K
    J Invest Dermatol 115:368-74. 2000
  3. ncbi Genomic organization and amplification of the human plakoglobin gene (JUP)
    N V Whittock
    Department of Cell and Molecular Pathology, St John s Institute of Dermatology, The Guy s, King s College, and St Thomas Hospitals Medical School, London, UK
    Exp Dermatol 9:323-6. 2000
  4. ncbi Genomic organization and amplification of the human desmosomal cadherin genes DSC1 and DSC3, encoding desmocollin types 1 and 3
    N V Whittock
    Department of Cell and Molecular Pathology, St John s Institute of Dermatology, London, United Kingdom
    Biochem Biophys Res Commun 276:454-60. 2000
  5. ncbi Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma
    D M Hunt
    Division of Membrane Biology, National Institute for Medical Research, Mill Hill, London, NW7 1AA, UK
    Eur J Hum Genet 9:197-203. 2001
  6. ncbi The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21
    N V Whittock
    Department of Cell and Molecular Pathology, St John s Institute of Dermatology, The Guy s, King s College, and St Thomas Hospitals Medical School, London, UK
    J Invest Dermatol 115:694-8. 2000
  7. ncbi Genomic organization and amplification of the human keratin 15 and keratin 19 genes
    N V Whittock
    St John s Institute of Dermatology, King s College and St Thomas Hospitals Medical School, London, United Kingdom
    Biochem Biophys Res Commun 267:462-5. 2000
  8. ncbi Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency
    N V Whittock
    Department of Cell and Molecular Pathology, St John s Institute of Dermatology, The Guy s, King s College, and St Thomas Hospitals Medical School, St Thomas Hospital, London, UK neil 2 whittock
    J Invest Dermatol 113:940-6. 1999
  9. ncbi Genomic localization, organization and amplification of the human zinc transporter protein gene, ZNT4, and exclusion as a candidate gene in different clinical variants of acrodermatitis enteropathica
    O Bleck
    Department of Cell and Molecular Pathology, St John s Institute of Dermatology, The Guy s, King s College, and St Thomas Hospitals Medical School, St Thomas Hospital, London, UK
    Arch Dermatol Res 293:392-6. 2001
  10. ncbi New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens
    N V Whittock
    Department of Cell and Molecular Pathology, St John s Institute of Dermatology, The Guy s, King s College, London, UK
    Br J Dermatol 145:330-5. 2001

Collaborators

Detail Information

Publications17

  1. ncbi Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5
    N V Whittock
    Department of Cell and Molecular Pathology, St John s Institute of Dermatology, London, United Kingdom
    Biochem Biophys Res Commun 274:149-52. 2000
    ..1 kb on 12q. We have also developed a comprehensive PCR-based mutation detection strategy using primers placed on flanking introns followed by direct sequencing of the PCR products...
  2. ncbi Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome
    N V Whittock
    Department of Cell and Molecular Pathology, St John s Institute of Dermatology, The Guy s, King s College, and St Thomas Hospitals Medical School, St Thomas Hospital, London, U K
    J Invest Dermatol 115:368-74. 2000
    ..These results expand the database of plakophilin 1 mutations and demonstrate the importance of this protein in the stabilization of desmosomal adhesion in terminally differentiating keratinocytes...
  3. ncbi Genomic organization and amplification of the human plakoglobin gene (JUP)
    N V Whittock
    Department of Cell and Molecular Pathology, St John s Institute of Dermatology, The Guy s, King s College, and St Thomas Hospitals Medical School, London, UK
    Exp Dermatol 9:323-6. 2000
    ..We have also developed a PCR-based mutation detection strategy using primers placed on flanking introns followed by direct sequencing of the PCR products...
  4. ncbi Genomic organization and amplification of the human desmosomal cadherin genes DSC1 and DSC3, encoding desmocollin types 1 and 3
    N V Whittock
    Department of Cell and Molecular Pathology, St John s Institute of Dermatology, London, United Kingdom
    Biochem Biophys Res Commun 276:454-60. 2000
    ..1. We have also developed a comprehensive PCR-based mutation detection strategy for desmocollins 1, 2, and 3 using primers placed on flanking introns followed by direct sequencing of the PCR products...
  5. ncbi Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma
    D M Hunt
    Division of Membrane Biology, National Institute for Medical Research, Mill Hill, London, NW7 1AA, UK
    Eur J Hum Genet 9:197-203. 2001
    ..The most severe consequences of SPPK mutations are in regions of the body where pressure and abrasion are greatest and where desmosome function is most necessary. SPPK therefore provides a very sensitive measure of desmosomal function...
  6. ncbi The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21
    N V Whittock
    Department of Cell and Molecular Pathology, St John s Institute of Dermatology, The Guy s, King s College, and St Thomas Hospitals Medical School, London, UK
    J Invest Dermatol 115:694-8. 2000
    ..Keratins K15, K19, and K20, plakoglobin, and MEOX1 were excluded as candidates by direct sequencing of genomic polymerase chain reaction products...
  7. ncbi Genomic organization and amplification of the human keratin 15 and keratin 19 genes
    N V Whittock
    St John s Institute of Dermatology, King s College and St Thomas Hospitals Medical School, London, United Kingdom
    Biochem Biophys Res Commun 267:462-5. 2000
    ..7 kb on 17q21. We have also developed a PCR-based mutation detection strategy using primers placed on flanking introns followed by direct sequencing of the PCR products...
  8. ncbi Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency
    N V Whittock
    Department of Cell and Molecular Pathology, St John s Institute of Dermatology, The Guy s, King s College, and St Thomas Hospitals Medical School, St Thomas Hospital, London, UK neil 2 whittock
    J Invest Dermatol 113:940-6. 1999
    ..Assessment of family members bearing the mutant allele also emphasizes the significance of an individual's age and exposure to skin trauma in manifesting full phenotypic expression of the disorder...
  9. ncbi Genomic localization, organization and amplification of the human zinc transporter protein gene, ZNT4, and exclusion as a candidate gene in different clinical variants of acrodermatitis enteropathica
    O Bleck
    Department of Cell and Molecular Pathology, St John s Institute of Dermatology, The Guy s, King s College, and St Thomas Hospitals Medical School, St Thomas Hospital, London, UK
    Arch Dermatol Res 293:392-6. 2001
    ....
  10. ncbi New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens
    N V Whittock
    Department of Cell and Molecular Pathology, St John s Institute of Dermatology, The Guy s, King s College, London, UK
    Br J Dermatol 145:330-5. 2001
    ..Our results demonstrate that these mutations are deleterious to keratin filament network stability and lead to specific clinical inherited disorders of keratinization...
  11. ncbi Preimplantation genetic diagnosis of skin fragility-ectodermal dysplasia syndrome
    H Fassihi
    Genetic Skin Disease Group, St John s Institute of Dermatology, The Guy s, King s College and St Thomas Hospitals Medical School, London, UK
    Br J Dermatol 154:546-50. 2006
    ..The successful outcome of PGD in this case illustrates what is technically possible for couples at risk of recurrence of a severe inherited skin disease...
  12. ncbi Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis
    N V Whittock
    Department of Cell and Molecular Pathology, St John s Institute of Dermatology, St Thomas Hospitals Medical School, London, UK
    J Invest Dermatol 113:673-86. 1999
    ....
  13. ncbi Genomic organization, amplification, fine mapping, and intragenic polymorphisms of the human hemidesmosomal tetraspanin CD151 gene
    N V Whittock
    Epithelial Genetics Group, Human Genetics Unit, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, United Kingdom
    Biochem Biophys Res Commun 281:425-30. 2001
    ..In addition, to aid linkage analysis of CD151 in genetic disease we have fine-mapped the gene by radiation-hybrid methodology to 11p15.5, and detected a number of intragenic polymorphisms...
  14. ncbi Targetting of desmoglein 1 in inherited and acquired skin diseases
    N V Whittock
    Institute of Biomedical and Clinical Science, Peninsula Medical School, and Department of Dermatology, Royal Devon and Exeter Hospital, Exeter, UK
    Clin Exp Dermatol 28:410-5. 2003
    ..Here, we review the expression, protein structure, genetics, and molecular interactions of desmoglein 1 and outline the role it plays within the desmosome and how it becomes defective in human disease...
  15. ncbi Molecular prenatal diagnosis in a case of an X-linked dominant chondrodysplasia punctata
    N V Whittock
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    Prenat Diagn 23:701-4. 2003
    ..In addition, we have performed molecular prenatal testing on her unborn fetus. The results demonstrate inter-familial variability for missense mutations within the emopamil binding protein and add to the molecular data for CDPX2...
  16. ncbi Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations
    N V Whittock
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    Clin Genet 66:67-72. 2004
    ..Their two unaffected siblings were heterozygotes for the 1440delG mutation. Pseudodominant inheritance has been confirmed, and the findings raise potential consequences for genetic counseling in relation to the SCD disorders...
  17. pmc Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype
    D B Sparrow
    Developmental Biology Program, Victor Chang Cardiac Research Institute, Sydney, NSW, Australia
    Am J Hum Genet 78:28-37. 2006
    ..This represents the first known mutation in the human LFNG gene and reinforces the hypothesis that proper regulation of the Notch signaling pathway is an absolute requirement for the correct patterning of the axial skeleton...