Neil Vincent Whittock

Summary

Affiliation: National Institute for Medical Research
Country: UK

Publications

  1. 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
  2. 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
  3. ncbi Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome
    Neil V Whittock
    Department of Cellular 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 118:232-8. 2002
  4. ncbi Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma
    Neil V Whittock
    Epithelial Genetics Group, Human Genetics Unit, University of Dundee, Ninewells Hospital and Medical School, Dundee, UK
    J Invest Dermatol 118:838-44. 2002
  5. ncbi Genetic evidence for a novel human desmosomal cadherin, desmoglein 4
    Neil V Whittock
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, United Kingdom
    J Invest Dermatol 120:523-30. 2003
  6. ncbi Genomic sequence analysis of the mouse desmoglein cluster reveals evidence for six distinct genes: characterization of mouse DSG4, DSG5, and DSG6
    Neil Vincent Whittock
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    J Invest Dermatol 120:970-80. 2003
  7. 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
  8. 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
  9. ncbi A founder COL17A1 splice site mutation leading to generalized atrophic benign epidermolysis bullosa in an extended inbred Palestinian family from Israel
    Neil Vincent Whittock
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, United Kingdom
    Genet Med 5:435-9. 2003

Detail Information

Publications9

  1. 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...
  2. 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...
  3. ncbi Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome
    Neil V Whittock
    Department of Cellular 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 118:232-8. 2002
    ....
  4. ncbi Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma
    Neil V Whittock
    Epithelial Genetics Group, Human Genetics Unit, University of Dundee, Ninewells Hospital and Medical School, Dundee, UK
    J Invest Dermatol 118:838-44. 2002
    ..Using expression studies we show that the V2 domain is essential for normal function of keratin intermediate filaments...
  5. ncbi Genetic evidence for a novel human desmosomal cadherin, desmoglein 4
    Neil V Whittock
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, United Kingdom
    J Invest Dermatol 120:523-30. 2003
    ..We have demonstrated using RT-PCR on multiple tissue cDNA samples that desmoglein 4 has very specific tissue expression in salivary gland, testis, prostate, and skin...
  6. ncbi Genomic sequence analysis of the mouse desmoglein cluster reveals evidence for six distinct genes: characterization of mouse DSG4, DSG5, and DSG6
    Neil Vincent Whittock
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    J Invest Dermatol 120:970-80. 2003
    ..Using mouse tissue cDNA we have demonstrated that mouse desmogleins 4, 5, and 6 are all expressed in the epidermis but are expressed during different times of mouse development...
  7. 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...
  8. 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...
  9. ncbi A founder COL17A1 splice site mutation leading to generalized atrophic benign epidermolysis bullosa in an extended inbred Palestinian family from Israel
    Neil Vincent Whittock
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, United Kingdom
    Genet Med 5:435-9. 2003
    ..CONCLUSION: The effect of a founder mutation introduced 3 to 4 generations before a disease appearance is demonstrated in this inbred family...