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  • 1
    Electronic Resource
    Electronic Resource
    An optimized experimental method for measuring thermal conductivity of thin, boron-doped diamond films (1995)
    [S.l.] : American Institute of Physics (AIP)
    Review of Scientific Instruments 66 (1995), S. 4967-4971 
    Details
    ISSN: 1089-7623
    Source: AIP Digital Archive
    Topics: Physics , Electrical Engineering, Measurement and Control Technology
    Notes: A novel experimental method has been developed and applied to measure the thermal conductivity of a thin (5.6 μm thick) boron-doped diamond film produced by a hot filament CVD process. Thermal fields were created by Joule heating in a 3-mm-diam, free-standing diamond diaphragm; infrared imaging thermography was used to quantify these fields. Parameter estimation was applied to determine the thermal conductivity of the film using more than 100 temperatures in each property determination. The experimental design chosen was selected on the basis of an analysis which maximized the sensitivity for the determination of thermal conductivity while minimizing the uncertainty in the estimation of this property. Parameters such as characteristic length, film resistivity, and thickness were chosen from the model to reduce convective effects, obtain the desired temperature rise, and minimize the uncertainty in the estimation of the thermal conductivity. Preliminary results for the thermal conductivity were obtained using the method of least squares to minimize the error between the measured temperatures recorded by the infrared temperature acquisition system and the calculated temperatures determined by the optimal radial heat flow model. A single doped film was energized at three power levels in five experiments. The thermal conductivity was determined to be 240±11 W/m K. The measured standard deviation of the mean matched the estimated uncertainty closely and the relative contributions to the experimental uncertainty have been quantified. © 1995 American Institute of Physics.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1063/1.1146182
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  • 2
    Electronic Resource
    Electronic Resource
    ADULT ectodermal dysplasia syndrome resulting from the missense mutation R298Q in the p63 gene (2004)
    Oxford, UK : Blackwell Science Ltd
    Clinical and experimental dermatology 29 (2004), S. 0 
    Details
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Several ectodermal dysplasia syndromes have been shown to result from mutations in the gene that encodes the transcription factor p63. We describe an 11-year-old boy, with clinically normal parents, who had a developmental disorder that resembled EEC (ectrodactyly ectodermal dysplasia-clefting) syndrome (OMIM 604292). He had ectrodactyly and missing middle fingers bilaterally, onychodysplasia, hypodontia with missing teeth, hypohidrosis and lacrimal duct obstruction. DNA sequencing disclosed a heterozygous G→A substitution at nucleotide 893, that converts an arginine residue (CGA) to glutamine (CAA), the mutation being designated R298Q. This mutation occurs within the DNA-binding domain of p63, and is close to many of the published EEC syndrome mutations. However, R298Q has been described once previously in a large German pedigree, not with EEC syndrome, but another ectodermal dysplasia disorder, ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome (OMIM 103285). Further clinical assessment in our patient revealed that, apart from not having cleft lip and/or palate, he had an exfoliative dermatitis of his hands and feet, and some freckling on his face and shoulders. Collectively, these features support a diagnosis of ADULT syndrome. This study has identified a specific genotype–phenotype correlation in a rare ectodermal dysplasia syndrome and the findings are useful in improving genetic counselling in this family.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2230.2004.01643.x
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  • 3
    Electronic Resource
    Electronic Resource
    Characterization of IgG autoantibodies to extracellular matrix protein 1 in lichen sclerosus (2004)
    Oxford, UK : Blackwell Science Ltd
    Clinical and experimental dermatology 29 (2004), S. 0 
    Details
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Although the precise aetiology of lichen sclerosus is unknown, evidence for an autoimmune basis to the disorder is emerging. Indeed, circulating IgG autoantibodies to the glycoprotein extracellular matrix protein 1 (ECM1) have been demonstrated in the sera of about 75% of affected individuals. To assess this humoral immune response further, immunoblotting was performed using bacterial recombinant proteins spanning different domains of the ECM1 protein. The aim was to identify autoantibody-reactive sites recognized by 90 lichen sclerosus sera. The subclass distribution of anti-ECM1 IgG autoantibodies was also determined in 54 lichen sclerosus sera. Immunoblotting showed that the IgG autoantibodies from lichen sclerosus patients recognize multiple antigenic reactive sites on the ECM1 protein within both the amino terminus (50/90, 55.6%) and the protein loop cysteine-rich repeat domains (54/90, 60%), although few sera (7/90, 7.8%) had antibodies to the carboxyl terminus of ECM1. IgG subclass analysis revealed that the anti-ECM1 autoantibodies belong predominantly to the IgG2 subclass (48/54, 88.9%), either IgG2 alone (28/54, 51.9%) or in combination with one or more other IgG subclasses. No correlation was found between the site(s) of the ECM1 epitopes or the anti-ECM1 IgG profile and any specific clinical parameters. Nevertheless, characterization of anti-ECM1 antibodies does provide further insight into humoral immune responses and understanding disease mechanisms in lichen sclerosus.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2230.2004.01573.x
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  • 4
    Electronic Resource
    Electronic Resource
    Ectodermal dysplasia showing clinical overlap between AEC, Rapp–Hodgkin and CHAND syndromes (2004)
    Oxford, UK : Blackwell Science Ltd
    Clinical and experimental dermatology 29 (2004), S. 0 
    Details
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: The ectodermal dysplasias represent a complex collection of congenital abnormalities of skin, hair, teeth, nail, and sweat gland development, many of which have overlapping clinical features. In this report, we describe a 7-year-old girl, born to clinically normal parents, with ankyloblepharon, cleft lip/palate and hair abnormalities, features resembling the autosomal dominant disorder, ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome, which results from mutations in the sterile-alpha motif domain of the gene encoding the transcription factor, p63. However, direct sequencing of the p63 gene in this individual did not reveal any pathogenic sequence variants. Moreover, two of her paternal cousins were discovered to have similar congenital ectodermal anomalies, raising the alternative possibility of an autosomal recessive pattern of inheritance. Furthermore, all affected individuals lacked a history of erosive scalp dermatitis that is usually characteristic of AEC syndrome. Instead, the scalp hair was coarse and wiry. In addition, another atypical feature, hypohidrosis, was present. Collectively, the clinical features also resembled Rapp–Hodgkin syndrome, Bowen–Armstrong syndrome and CHAND syndrome, but did not appear to fit neatly with any one particular disorder. This case highlights the difficulties in trying to classify the ectodermal dysplasia syndromes on clinical features alone.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2230.2004.01584.x
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  • 5
    Electronic Resource
    Electronic Resource
    Progressive osseous heteroplasia resulting from a new mutation in the GNAS1 gene (2004)
    Oxford, UK : Blackwell Science Ltd
    Clinical and experimental dermatology 29 (2004), S. 0 
    Details
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Progressive osseous heteroplasia (OMIM 166350) is a rare autosomal dominant condition that presents in childhood as dermal ossification and may progress deeper to involve subcutaneous fat and connective tissue. Recently, paternally inherited inactivating mutations in the GNAS1 gene on chromosome 20q13 have been implicated in the pathogenesis, although sporadic cases have also been reported. We report a 9-year-old British Chinese girl with progressive osseous heteroplasia resulting from a de novo missense mutation (W281R) in the GNAS1 gene. She is of small stature (0.4th centile) and started to develop skin lesions at the age of 9 months. These have been confirmed histologically as osteoma cutis. She is of normal intelligence and development and has no dysmorphic features. The GNAS1 gene exhibits imprinting and maternally inherited mutations have previously been shown to result in Albright's hereditary osteodystrophy (OMIM 103580) with pseudohypothyroidism type 1a, whereas paternally inherited mutations result in progressive osseous heteroplasia or the Albright's hereditary osteodystrophy phenotype with pseudopseudohypothyroidism (OMIM 300800). With only nine mutations of the GNAS1 gene reported so far in progressive osseous heteroplasia, this new mutation helps to extend further the genotype–phenotype correlation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2230.2004.01439.x
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  • 6
    Electronic Resource
    Electronic Resource
    Prenatal diagnosis of Herlitz junctional epidermolysis bullosa in nonidentical twins (2005)
    Oxford, UK : Blackwell Science Ltd
    Clinical and experimental dermatology 30 (2005), S. 0 
    Details
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Advances in molecular diagnostics have led to the feasibility of DNA-based prenatal testing in families at risk for recurrence of severe forms of both dystrophic and junctional epidermolysis bullosa. In this report, we describe prenatal testing in a woman who previously had a child affected with Herlitz junctional epidermolysis bullosa. However, in her second pregnancy, she was found to have dichorionic diamniotic twins. DNA analysis of a pathogenic mutation and informative intragenic polymorphisms (LAMB3 gene) predicted one fetus to be affected and the other unaffected. Selective termination of the affected fetus was performed, and pregnancy with the unaffected fetus was continued, leading to full term delivery of a healthy girl with no skin blisters. This is the first reported case of DNA analysis in a twin pregnancy at risk of Herlitz junctional epidermolysis bullosa, with successful diagnosis and selective termination of one affected twin.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2230.2004.01704.x
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  • 7
    Electronic Resource
    Electronic Resource
    Psoriasis bullosa acquisita (2002)
    Oxford, UK : Blackwell Science Ltd
    Clinical and experimental dermatology 27 (2002), S. 0 
    Details
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary We report a 51-year-old man with a 20-year history of chronic plaque psoriasis who developed an autoimmune subepidermal blistering eruption that had clinical features of bullous pemphigoid, erythema multiforme and epidermolysis bullosa acquisita. Investigations revealed a 1 : 400 titre circulating and in vivo bound IgG autoantibody that mapped to the dermal side of 1 m NaCl-split skin and localized to the lower lamina lucida/upper lamina densa on immunogold electron microscopy. Immunoblotting, using dermal extracts, showed serum binding to antigens of ≈ 200- and ≈ 260 kDa. Indirect immunofluorescence microscopy, using the patient's serum on archival skin sections taken from selected individuals with different forms of inherited epidermolysis bullosa as substrate, showed normal basement membrane labelling on all samples apart from recessive dystrophic epidermolysis bullosa skin (with inherent mutations in the type VII collagen gene): in these cases there was a complete absence of immunostaining. Clinically, the patient responded rapidly to combination treatment with intravenous immunoglobulin and oral corticosteroids, dapsone and mycophenolate mofetil. Autoimmune subepidermal blistering has been reported in other patients with psoriasis, although no specific target antigen has ever been determined. Our study provides preliminary evidence that, for this patient at least, the autoantibody may be targeted against a skin component closely associated with type VII collagen (the epidermolysis bullosa acquisita antigen). Therefore, we propose the term ‘psoriasis bullosa acquisita’ for this and possibly other patients with similar skin eruptions.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2230.2002.01100.x
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  • 8
    Electronic Resource
    Electronic Resource
    Searching for candidate genes in the new millennium (2001)
    Oxford, UK : Blackwell Science Ltd
    Clinical and experimental dermatology 26 (2001), S. 0 
    Details
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Completion of the entire sequence of the human genome is having a profound effect on the strategies biological scientists use to identify disease-associated genes. Laborious positional cloning approaches and traditional functional studies are gradually being transformed by emerging genomic and proteomic databases. Some of the exciting challenges investigators now face are the identification of new genes, determining the function of these genes, defining disease associations, and elucidating correlation between genotype and phenotype. To demonstrate how investigative methods for single-gene disorders are changing, we illustrate one possible approach in the search for the gene underlying the autosomal recessive genodermatosis, acrodermatitis enteropathica.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2230.2001.00816.x
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  • 9
    Electronic Resource
    Electronic Resource
    Molecular basis of lipoid proteinosis in a Libyan family (2003)
    Oxford, UK : Blackwell Science Ltd
    Clinical and experimental dermatology 28 (2003), S. 0 
    Details
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary Lipoid proteinosis is an autosomal recessive condition associated with variable scarring and infiltration of skin and mucosae. The disorder has recently been shown to result from loss-of-function mutations in the extracellular matrix protein 1 gene (ECM1) on 1q21. Extracellular matrix protein 1 has important physiological and biological roles in aspects of epidermal differentiation, binding of dermal collagens and proteoglycans, and in regulation of angiogenesis. Thus far pathogenic mutations have been described in 16 different families with lipoid proteinosis throughout the world. In this report, we describe the clinico-pathological features of a 10-year-old boy with lipoid proteinosis from a consanguineous Libyan family. By direct sequencing of the affected individual's genomic DNA, we identified a homozygous nonsense mutation in exon 2 of the ECM1 gene, Q32X. This mutation is the most 5′ of all ECM1 mutations described thus far and is predicted to ablate the ECM1a, ECM1b and ECM1c splice variants of the ECM1 gene and to result in a severe clinical phenotype. Sequencing of DNA from the affected individual's five siblings revealed that four were heterozygous carriers of Q32X, findings that have important implications for genetic counselling given the high frequency of consanguineous marriages in Libya.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2230.2003.01341.x
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  • 10
    Electronic Resource
    Electronic Resource
    A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome (2002)
    Oxford, UK : Blackwell Science Ltd
    Clinical and experimental dermatology 27 (2002), S. 0 
    Details
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary Vohwinkel syndrome (VS) is a family of genodermatoses which exhibits extensive clinical and genetic heterogeneity. Here, we studied a pedigree originating from the UK with typical features of the ichthyotic variant of VS and identified a recurrent insertion mutation in the loricrin gene resulting in a mutant polypeptide with an unusual C terminus. Functional studies in transgenic mice have shown that the accumulation of mutant loricrin in the nucleus appears to interfere with the later stages of epidermal differentiation, thereby explaining the clinical manifestations of ichthyosis, keratoderma and pseudoainhum. Our findings extend the body of evidence implicating mutations in the loricrin gene as the underlying cause of VS.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2230.2002.01031.x
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