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  • 1
    Electronic Resource
    Electronic Resource
    Compound heterozygosity for mutations in the hairless gene causes atrichia with papular lesions (2003)
    Oxford, UK : Blackwell Science Ltd
    British journal of dermatology 148 (2003), S. 0 
    Details
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary Background Congenital atrichias represent a complex and heterogeneous group of genodermatoses, which have been shown in several consanguineous families to result from homozygous mutations in the hairless gene (HR). Objectives To identify the molecular basis of congenital atrichia in a non-consanguineous family. Methods Genetic analysis was carried out in a two-generation family with two children with congenital atrichia and one healthy child. Results We established a diagnosis of atrichia with papular lesions based on clinical and histopathological data. We identified a heterozygous 11-bp deletion (189–199del) in the two affected children and their mother. In addition, the two affected children and their father were shown to carry a non sense mutation (Q478X), which has previously been described in a Pakistani family. Haplotype analysis revealed that mutation Q478X occurred independently in the two families. Conclusions We have identified the first case of compound heterozygosity for mutations in HR as well as the first instance of a recurrent mutation in this gene. These data further expand our understanding of the molecular pathomechanisms underlying congenital atrichias.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2133.2003.05177.x
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  • 2
    Electronic Resource
    Electronic Resource
    Laterality effects in response to the offset of visual stimuli
    Amsterdam : Elsevier
    Neuropsychologia 22 (1984), S. 627-629 
    Details
    ISSN: 0028-3932
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Psychology
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0028-3932(84)90028-9
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  • 3
    Electronic Resource
    Electronic Resource
    6-Protoilludene, the major volatile metabolite from ceratocystis piceae liquid cultures
    Amsterdam : Elsevier
    Phytochemistry 25 (1986), S. 1979-1980 
    Details
    ISSN: 0031-9422
    Keywords: 6-protoilludene ; Ascomycetes ; Ceratocystis piceae ; culture conditions. ; fungal terpenoids ; sesquiterpenes ; volatiles
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/S0031-9422(00)81188-7
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  • 4
    Electronic Resource
    Electronic Resource
    New trans-fused africanols from leptographium lundbergii
    Amsterdam : Elsevier
    Tetrahedron 42 (1986), S. 4475-4480 
    Details
    ISSN: 0040-4020
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Chemistry and Pharmacology
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/S0040-4020(01)87288-4
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  • 5
    Electronic Resource
    Electronic Resource
    Epidermolytic hyperkeratosis type PS-1 caused by aberrant splicing of KRT1 (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: Mutations in the keratin 1 (KRT1) gene underlie epidermolytic hyperkeratosis (EHK). This autosomal dominant disorder is characterized by phenotypic heterogeneity. In the present study, we assessed a 33-year-old individual presenting with severe palmoplantar keratoderma and histopathological findings suggestive of EHK. We analysed genomic DNA extracted from the patient's blood lymphocytes for pathogenic mutations in KRT1. A heterozygous 4-bp deletion was identified in intron 1 of the gene (591+3_+6delGAGT), suggesting the possibility that it may interfere with the normal splicing of intron 1. We detected a 66-bp deletion in KRT1 mRNA extracted from the patient's skin, predicted to result in the translation of a mutant KRT1 lacking 22 amino acids, including the conserved helix initiation motif. The identification of this unusual and novel mutation underscores the diagnostic importance of sequence analysis of keratin gene noncoding regions.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2230.2004.01661.x
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  • 6
    Electronic Resource
    Electronic Resource
    Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma: molecular testing as a helpful diagnostic tool for Netherton syndrome (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 congenital erythrodermas represent a heterogeneous group of inherited and acquired disorders often accompanied by systemic infections, impaired epidermal barrier function and concomitant life-threatening fluid and electrolyte imbalance. In the present report, we describe a patient who was considered to have congenital ichthyosiform erythroderma for 26 years until molecular testing led to the correct diagnosis of Netherton syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2230.2004.01589.x
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  • 7
    Electronic Resource
    Electronic Resource
    Sweat secretion, stratum corneum hydration, small nerve function and pruritus in patients with advanced chronic renal failure (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 Sweat secretion, stratum corneum hydration and small nerve fibre function were measured in 40 patients with advanced chronic renal failure (CRF), using pilocarpine iontophoresis, electrical capacitance and a thermal sensory analyser which measures the thresholds of warm and heat pain sensation. Correlations were sought between these parameters, and the presence and severity of pruritus and skin xerosis were compared with 45 healthy control subjects. The mean sweat secretion and stratum corneum hydration of CRF patients were significantly lower than in controls. Thirteen patients had pathological thresholds to warm sensation on the foot, and eight on the hand. None had pathological thresholds to heat-pain. The presence of pruritus did not correlate with any of the following: xerosis, stratum corneum hydration, sweat secretion or the results of thermal testing.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2133.1995.tb02705.x
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  • 8
    Electronic Resource
    Electronic Resource
    Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings (2005)
    Oxford, UK : Blackwell Science Ltd
    British journal of dermatology 153 (2005), S. 0 
    Details
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background  Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare autosomal recessive disorder characterized by sparse and short scalp hair from birth, followed within a few years by progressive macular degeneration leading to blindness. HJMD was shown to result from mutations in CDH3 encoding P-cadherin.Objectives  In the present study, we attempted to identify the molecular basis of abnormal hair growth in two siblings of Arab Muslim origin with hypotrichosis but no visual symptoms.Methods  Mutation analysis was performed using direct sequencing and polymerase chain reaction–restriction fragment length polymorphism analysis.Results  Patients displayed sparse and short hair since birth. Significant macular degenerative pigmentary changes were noticed in the face of normal visual acuity. Despite the fact that a single CDH3 mutation had previously been described in several families of Israeli Arab Muslim origin, the two affected patients were found to be homozygous carriers of a novel nonsense mutation (Y615X) predicted to result in premature termination of P-cadherin translation.Conclusions  The present results indicate that all patients with congenital hypotrichosis should undergo thorough fundus examination, which, when revealing pigmentary macular changes, can be considered as indicative of an underlying CDH3 causative mutation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2133.2005.06734.x
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  • 9
    Electronic Resource
    Electronic Resource
    Effect of genetically determined immunodeficiency on epidermal dendritic cell populations in C57BL/6J mice (1990)
    Springer
    Archives of dermatological research 282 (1990), S. 188-193 
    Details
    ISSN: 1432-069X
    Keywords: Immunodeficiency ; Dendritic cells ; Langerhans cells ; Immunofluorescence microscopy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Mice homozygous for three different recessive mutations known to cause pleiotropic defects in the immune system and in the skin were used to evaluate the relationship between the classical immune system and dendritic epidermal cell populations. Numbers of Langerhans cells (LCs) and Thy-1+ dendritic cells (Thy-1+DEC) were determined using indirect immunofluorescence microscopy of epidermal whole mounts taken from viable motheaten (me v ), nude (nu), and rhino (rh hr ) mice. All mutants were maintained on the C57BL/6J strain background and were compared with their respective littermate normal controls. Viable motheaten mice had normal numbers of LCs at 1 month of age. However, by 8 weeks of age, LC density had decreased threefold. Nude and rhino mice had normal numbers of LCs at all ages tested. There was no significant effect of the viable motheaten mutation on numbers of Thy-1+DEC. Although nude mice showed normal numbers of Thy-1+ DEC at 1 month of age, these athymic mice had a threefold decrease in numbers of such cells by 6 months. In contrast to the reduced numbers of Thy-1+DEC seen in nude mice, rhino mice showed a four- to fivefold increase in the numbers of these epidermal cells at all ages tested. These findings suggest new mouse models for investigating the development, regulation, and biological properties of epidermal dendritic cell populations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00372621
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  • 10
    Electronic Resource
    Electronic Resource
    Reduced folate carrier (RFC-1) gene expression in normal and psoriatic skin (1998)
    Springer
    Archives of dermatological research 290 (1998), S. 656-660 
    Details
    ISSN: 1432-069X
    Keywords: Key words Methotrexate ; Psoriasis ; Reduced folate carrier ; Skin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Methotrexate is widely used in the treatment of severe psoriasis. However, little is currently known about the mechanisms underlying its therapeutic activity in the skin. Methotrexate has been shown to be carried into cells through the reduced folate carrier (RFC-1). The recent cloning and characterization of the human gene encoding this transmembranal carrier enabled us to investigate RFC-1 gene expression in human skin. Biopsies were obtained from the skin of healthy and psoriatic volunteers. RNA extracted from these biopsies was analyzed by the reverse transcriptase-polymerase chain reaction technique. While RFC-1 gene expression was barely detectable in the uninvolved skin of psoriatic patients and in the skin of healthy volunteers, high levels of RFC-1 transcripts were found in biopsies obtained from psoriatic plaques. To further investigate this pattern of gene expression, we studied skin biopsies by in situ hybridization with a labeled antisense riboprobe specific for the RFC-1 gene. The RFC-1 gene was found to be weakly expressed in the epidermis, in biopsies obtained from the skin of healthy subjects as well as in those from the uninvolved skin of psoriatic patients. In contrast, in biopsies obtained from psoriatic plaques, high levels of RFC-1 gene transcripts were found mostly in the spinous layer of the epidermis. These results suggest the existence of a specific methotrexate carrier in the human epidermis, and may bear relevance to the cutaneous manifestations of methotrexate toxicity.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004030050369
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