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  • 1
    Electronic Resource
    Electronic Resource
    Linkage Analyses in British Pedigrees Suggest a Single Locus for Darier Disease and Narrow the Location to the Interval between D12S105 and D12S129
    Amsterdam : Elsevier
    Genomics 24 (1994), S. 378-382 
    Details
    ISSN: 0888-7543
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1006/geno.1994.1632
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  • 2
    Electronic Resource
    Electronic Resource
    Management of equinus contractures of the ankle in haemophilia (1999)
    Oxford, UK : Blackwell Science Ltd
    Haemophilia 5 (1999), S. 0 
    Details
    ISSN: 1365-2516
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Equinus deformity has been a significant problem in haemophilia. It causes difficulties in walking and secondary problems in adjacent joints. There are a number of potential causes in haemophilia. A careful history, examination, and plain radiographs will determine the aetiology, which frequently is multifactorial. Hopefully, prophylactic factor replacement will reduce the incidence of such problems in the future. Prompt ‘on demand’ therapy will reduce the complications of articular and soft-tissue bleeds. Physiotherapy, splints, and orthotics will usually allow a full recovery of function and comfort. Rarely, surgical intervention is required to correct articular and/or musculo-tendinous problems. The choice of surgery depends upon the cause(s) of the deformity and should only be undertaken in experienced haemophilia units following careful counselling of the patient regarding the aims and nature of the operation and the patient’s involvement in an effective rehab- ilitation programme.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2516.1999.0050s1046.x
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  • 3
    Electronic Resource
    Electronic Resource
    Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity (1997)
    Oxford, UK : Blackwell Publishing Ltd
    British journal of dermatology 137 (1997), S. 0 
    Details
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Monilethrix is an autosomal dominant disorder chiefly affecting hair. The degree of hair dystrophy is highly variable, as is the presence of additional features, such as follicular keratoses. In three British families of monilethrix, linkage has recently been reported to the type II keratin gene cluster at chromosome 12q13, and it has been suggested that the disease is due to a defect in the hard keratins of hair and nail. If monilethrix is a keratin disorder, we would predict that some pedigrees might map to the type I keratin gene cluster on 17q where hard keratin genes are also found. We have now studied clinically and by linkage analysis three new and unrelated pedigrees from England, Scotland and Spain, the first of which showed a variant phenotype. In this family the disease was expressed in four of 12 cases only as a follicular keratosis of the neck, elbows and knees, and without clinical or historical evidence of hair anomalies: non-penetrance in an obligate carrier was also observed. In all three families, we have established linkage to a series of microsatellite markers at the type II locus at 12q13 (Zmax=6.34 at 0=0.00 for D12S368) and have excluded linkage from the type I keratin gene cluster on 17q. It remains probable that monilethrix is a disorder of hard keratins, but at present there is no evidence that it is due to defects in type I keratins.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2133.1997.18461954.x
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  • 4
    Electronic Resource
    Electronic Resource
    p21Waf1/cip1 expression (1997)
    Oxford, UK : Blackwell Publishing Ltd
    British journal of dermatology 136 (1997), S. 0 
    Details
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2133.1997.tb03686.x
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  • 5
    Electronic Resource
    Electronic Resource
    Prognostic value of Ki67 antigen expression in basal cell carcinomas (1995)
    Oxford, UK : Blackwell Publishing Ltd
    British journal of dermatology 133 (1995), S. 0 
    Details
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary Recurrence of basal cell carcinoma (BCC) following treatment is a common event and long-term follow-up of all patients presenting with a primary BCC has been recommended. Proliferation indices have been recognized as important prognostic factors in several tumour types in a variety of cancer systems, being significantly elevated in more aggressive lesions. We have examined 51 BCCs (17 non-recurrent tumours [group 1]. 17 original tumours which later recurred [group 2-0]. and the corresponding 17 recurrent specimens [group 2-R] for Ki67 antigen expression, a proliferalionassociated antigen using immunohistochemistry with the monoclonal antibody MIB1. There was a significant increase in the percentage positive for MIB1 in the Group 2-0 as compared with the group 1 BCCs (P〈H005). p53 protein expression, as assessed by immunohistochemistry with the monoclonal antibody D07, was similar in each group. These results show that Ki67 antigen expression differs between BCCs which later recur and BCCs that do not recur.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2133.1995.tb02748.x
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  • 6
    Electronic Resource
    Electronic Resource
    Sweating in Sjögrens syndrome (1996)
    Oxford, UK : Blackwell Publishing Ltd
    British journal of dermatology 135 (1996), S. 0 
    Details
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2133.1996.tb01525.x
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  • 7
    Electronic Resource
    Electronic Resource
    Use of in situ detection of histone mRNA in the assessment of epidermal proliferation: comparison with the Ki67 antigen and BrdU incorporation (1995)
    Oxford, UK : Blackwell Publishing Ltd
    British journal of dermatology 132 (1995), S. 0 
    Details
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: The labelling index is commonly used as a measure of proliferation. However, the use of tritiated thyraidine or BrdU labelling of S-phase cells is limited to prospective samples. We have employed an oligonucleotide cocktail complementary to the mRNA species encoding the repiication-dependent histones H2B, H3 and H4 for non-isotopic in situ hybridization (NISH), and have compared the resultant proliferation indices in normal skin with those obtained by bromodeoxyuridine (BrdU) incorporation and by Kift 7 immunohistochemistry (MC) using the monoclonal antibody MIB1. In addition, we compared the staining characteristics of histone NISH and Kif〉7 IHC in a further 25 samples from a variety of inflammatory dermatoses and neoplastic conditions, as well as from normal skin.In normal skin, S-phase (histone NISH and BrdU) and cycling (Ki67) cells were conflned to the basal and Jow suprabasal layers. The labetling indices determined by histone NISH and BrdU incorporation were similar, whereas that of Ki67 IHC was four times greater. In biopsies from hyperproliferative dermatoses and dysplastic or malignant lesions. the number of histone NISH- and Ki67 IHC-positive cells was generally elevated; in accordance with the differential expression of these two markers during the cell cycle, M1B1 consistently gave higher results. The advantage of histone NISH over Ki67 MC is that it is a marker of the same part of the cell cycle as BrdU incorporation. However, the combined use of both histone NISH and Ki67 MC to measure two cell cycle parameters, namely S-phase and the number of cycling cells, aliows more detailed retrospective study of epidermal proliferation than has been possible previously.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2133.1995.tb08668.x
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  • 8
    Electronic Resource
    Electronic Resource
    Normal sweat secretion rate in patients with alopecia areata (1995)
    Oxford, UK : Blackwell Publishing Ltd
    British journal of dermatology 132 (1995), S. 0 
    Details
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: We have examined sweat secretion rates in 22 patients with alopecia areata, and 22 age- and sex matched controls. Mean sweat rate on the forearm in patients with alopecia areata was 20 mg/cm2 per h (95% confidence limits 15–25 mg/cm2 per h), and in controls was 24.1 mg/cm2 per h (95% confidence limits 19.1–29.1 mg/cm2 per h). Sweat secretion was higher in males than females in both the disease and control groups (27.8 mg/cm2 per h [95% confidence limits 21.3–34.3 mg/cm2 per h], compared with 18.08 mg/cm2 per h [95% confidence limits 14.63-21.6 mg/cm2]; P 〉 0.01). Our results confirm the previously reported sex difference in sweat secretion rate, and demonstrate that there is no statistically significant difference between patients with alopecia areata and controls. We discuss our results in the light of a previous report claiming that patients with alopecia areata have reduced rates of cholinergic-induced sweating.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2133.1995.tb08673.x
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  • 9
    Electronic Resource
    Electronic Resource
    The relation between p53 mutation and p53 immunostaining in non-melanoma skin cancer (1993)
    Oxford, UK : Blackwell Publishing Ltd
    British journal of dermatology 129 (1993), S. 0 
    Details
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Extensive study of the p53 gene has established its role as a tumour-suppressor gene, and the involvement of mutant p53 in a wide spectrum of human malignancy. Many mutations of p53 result in a protein product that is abnormally stable, so that it becomes readily detectable by immunocytochemistry. In contrast, under normal conditions, it has been considered that levels of wild-type p53 were too low to be detectable. Although positive immunocytochemistry has been used as a marker of mutation, recent evidence suggests that this assumption may not always be valid. We have carried out both PCR-sequencing of exons 5-8 of the p53 gene in 20 basal cell carcinomas (BCC), and immunocytochemistry of these tumours with the anti-p53 antibody Do7. Twenty cases of Bowen's disease, in which we had previously documented mutations, were also immunostained. We report a low rate of p53 mutation in the BCCs we examined (2/20), and a discrepancy between tumours with positive immunostaining and those with mutation in both Bowen's disease and BCC. Of eight tumours in which we detected mutation, only four were immunopositive; of 19 immunopositive samples, only four showed detectable mutation. We discuss the implications of our results for the use of positive immunostaining in clinical diagnosis, and the involvement of p53 in skin carcinogenesis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2133.1993.tb11840.x
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  • 10
    Electronic Resource
    Electronic Resource
    Codon 12 Harvey-ras mutations are rare events in non-melanoma human skin cancer (1993)
    Oxford, UK : Blackwell Publishing Ltd
    British journal of dermatology 128 (1993), S. 0 
    Details
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: ras mutations have been reported as an early event in some human malignancies and in the mouse skin model of multistep carcinogenesis; early studies in human non-melanoma skin cancers have reported variable rates of ras mutations. A recent study, however, has reported a high frequency of activating mutations of the Harvey-ras proto-oncogene in non-melanoma skin cancers, and the site specificity of the mutation at the second position of codon 12 prompted us to re-examine the importance of Ha-ras codon 12 mutations as an early event in the development of these tumours, using a combination of PCR and restriction fragment polymorphism of codon 12 of the Ha-ras gene. Dilution experiments confirmed that the method was sensitive and capable of detecting mutations at this codon when only 4% of the total alleles are mutated. We were surprised to find no mutations in the 40 basal cell carcinomas. 12 squamous cell carcinomas and 12 cases of Bowen's disease studied. We conclude that Ha-ras codon 12 mutations are rare events in human non-melanoma skin cancer in the U.K. The marked differences in the frequency of codon 12 Ha-ras mutations in published studies may relate to either technical artefacts, or differences in the molecular epidemiology between areas of low and high sun exposure.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2133.1993.tb15137.x
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