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  • 2005-2009  (3)
  • 2000-2004  (18)
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  • 1
    Electronic Resource
    Electronic Resource
    Structural analysis reflects the evolutionary relationship between the human desmocollin gene family members (2001)
    Copenhagen : Munksgaard International Publishers
    Experimental dermatology 10 (2001), S. 0 
    Details
    ISSN: 1600-0625
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Abstract: Desmocollins, members of the desmosomal cadherin family, are known to play an important role in desmosomal intercellular adhesion. The human desmosomal cadherin cluster is located on chromosome 18q12, and consists of three desmoglein and three desmocollin genes. The cDNAs of all six of these genes have been cloned and sequenced, however, the exon–intron organization was reported for only one human desmocollin gene, DSC2. We elucidated the exon–intron structures of the DSC1 and DSC3 genes using PCR amplification of genomic DNA and direct sequencing of BAC clones. The results suggest a strong evolutionary conservation between the genomic organization of the desmocollin genes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1034/j.1600-0625.2001.010002095.x
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    A novel missense mutation (C622G) in the zinc-finger domain of the human hairless gene associated with congenital atrichia with papular lesions (2000)
    Copenhagen : Munksgaard International Publishers
    Experimental dermatology 9 (2000), S. 0 
    Details
    ISSN: 1600-0625
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Abstract: Congenital atrichia with papular lesions is a rare, recessively inherited form of hair loss characterized by a complete absence of all body hair shortly after birth. Mutations in the human ortholog of the mouse hairless (hr) gene have been implicated in the pathogenesis of this disorder. In this study, we screened, by direct sequence analysis, the hairless gene in a family of Polish descent and identified a novel missense mutation (C622G). The mutation alters the third of four invariant cysteins in the zinc-finger domain, which has high homology to the C-X-X-C-(X)17-C-X-X-C structure of the zinc-fingers of the GATA family of transcription factors. The human hairless gene encodes a putative transcription factor with restricted expression in the brain and skin, which is involved in the regulation of apoptosis during catagen remodeling in the hair cycle.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1034/j.1600-0625.2000.009002157.x
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    A novel mouse desmosomal cadherin family member, desmoglein 1γ (2003)
    Oxford, UK : Munksgaard International Publishers
    Experimental dermatology 12 (2003), S. 0 
    Details
    ISSN: 1600-0625
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Abstract: The mouse desmogleins are members of the desmosomal cadherin superfamily, and are critical structural components of the desmosome. The genes encoding mouse desmogleins are tightly clustered within 600 kb of chromosome 18, within a desmosomal cadherin gene family also containing the three desmocollin genes. In this study, we have characterized a novel mouse desmoglein gene, highly homologous to both mouse and human Dsg1, designated desmoglein 1γ (Dsg1c). Dsg1γ shares 83% amino acid identity to the previously described mouse Dsg1, now designated as Dsg1α, and 32% and 40% identity to mouse Dsg2 and 3, respectively. The Dsg1γ gene maps within the desmosomal gene cluster, between Dsc1 and Dsg1α. Comparison of its exon–intron structure revealed a high level of evolutionary conservation with related family members. In contrast to Dsg1α and Dsg3 whose expression is largely restricted to the skin, Dsg1γ is also expressed in the brain, skeletal muscle, and liver, among other tissues, and is thus more similar to Dsg2 in its tissue distribution. Interestingly, an orthologous Dsg1γ was not found in the human genome, suggesting that the desmosomal cadherin gene cluster contracted during mammalian evolution.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1034/j.1600-0625.2003.120103.x
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  • 4
    Electronic Resource
    Electronic Resource
    Characterization of the desmosomal cadherin gene family: Genomic organization of two desmoglein genes on human chromosome 18q12 (2001)
    Copenhagen : Munksgaard International Publishers
    Experimental dermatology 10 (2001), S. 0 
    Details
    ISSN: 1600-0625
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Abstract: The human desmoglein genes, desmogleins 1–3, are members of the desmosomal cadherin superfamily, and encode critical components of the desmosome. These genes are tightly clustered within 150–200 kb of chromosome 18q12.1 and represent excellent candidate genes for genetic disorders of the epidermis linked to this region of the genome. Mutations in desmoglein 1 have already been implicated in the genetic disorder striate palmoplantar keratoderma. Similarly, a mutation in desmoglein 3 underlies the balding mouse phenotype, although no human mutations in desmoglein 3 have been identified to date. In this study, we have characterized the genomic organization of two of the three desmoglein genes mapped to chromosome 18q12. Comparison of their exon–intron structure reveals the high level of evolutionary conservation expected from these related genes. The identification of the genomic structure of the desmoglein genes will facilitate mutation detection in genodermatoses with desmosomal abnormalities resulting from underlying defects in these genes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1034/j.1600-0625.2001.010002090.x
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  • 5
    Electronic Resource
    Electronic Resource
    Identification of mutations in the COL7A1 gene in a proband with mild recessive dystrophic epidermolysis bullosa and aortic insufficiency (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: We report the clinical and molecular findings in a patient with a mild form of recessive dystrophic epidermolysis bullosa and aortic insufficiency. To our knowledge, this is the first report of association between dystrophic epidermolysis bullosa and abnormalities of the aortic valve. Analysis of the COL7A1 gene has revealed two new mutations, a 20-bp duplication and a splice site mutation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2230.2003.01190.x
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    Paper (German National Licenses)
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  • 6
    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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  • 7
    Electronic Resource
    Electronic Resource
    A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa (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: Epidermolysis bullosa (EB) pruriginosa is a subtype of dominant dystrophic EB (DDEB), characterized by severe pruritus and blistering localized to the extensor surface of the extremities. EB pruriginosa exhibits extensive clinical heterogeneity with variable expression and delayed age of onset. Mutations in the COL7A1 gene, especially in glycine residues within Gly-X-Y repeats, have been shown to cause this form of DDEB. Here, we report a novel COL7A1 mutation in a Taiwanese pedigree with EB pruriginosa. Using PCR and direct sequence analysis we have identified a G→T transversion at nucleotide 7097 in exon 92 of COL7A1, converting a glycine residue to valine (G2366V). The mutation resides within a consecutive, uninterrupted stretch of 17 Gly-X-Y residues in the triple-helical domain of type VII collagen. Interestingly, an affected member of this family also displayed elevated IgE levels, previously reported in some patients with this disorder. Our finding further implicates COL7A1 mutation in the pathogenesis of EB pruriginosa and underscores the heterogeneous clinical symptoms of glycine mutations in DDEB.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2230.2004.01495.x
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    Paper (German National Licenses)
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  • 8
    Electronic Resource
    Electronic Resource
    DNA based molecular analysis in the rapid diagnosis of Herlitz junctional epidermolysis bullosa (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: The junctional form of epidermolysis bullosa (JEB) is an inherited blistering disease in which blisters occur at the level of the lamina lucida in the cutaneous basement membrane zone. Specific mutations have been detected in the genes encoding different components of the hemidesmosomal-anchoring filament complex. In the recessively inherited lethal (Herlitz) type of JEB (H-JEB), typically nonsense mutations or insertions or deletions are present on both alleles of any of the three genes encoding the polypeptide subunits of the anchoring filament protein, laminin 5. In this study, we searched for mutations in a proband who presented at birth with severe and extensive blistering. We detected a novel 1 bp deletion and a previously reported hotspot mutation (R635X) in the LAMB3 gene. This mutation combination established the diagnosis of H-JEB in this case, in which attempted diagnosis by skin biopsy had failed. The molecular analysis was performed shortly after birth while the patient was admitted to the intensive care unit, and the definitive molecular diagnosis allowed the parents and physicians to devise management plans.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2230.2001.00797.x
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    Paper (German National Licenses)
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  • 9
    Electronic Resource
    Electronic Resource
    Epidermolytic palmoplantar keratoderma in a Hispanic kindred resulting from a mutation in the keratin 9 gene (2000)
    Oxford, UK : Blackwell Science Ltd
    Clinical and experimental dermatology 25 (2000), S. 0 
    Details
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Epidermolytic palmoplantar keratoderma (EPPK) is a localized keratinization disorder caused by mutations in the highly conserved coil 1A domain of the keratin 9 gene, KRT9. We present a Hispanic pedigree spanning three generations, with affected individuals in all generations. Using polymerase chain reaction amplification and direct sequencing we demonstrated a previously reported missense mutation in KRT9, which is expressed almost exclusively in the skin of palms and soles. The C→T missense mutation R162W changes a basic amino acid (arginine) to a neutral amino acid (tryptophan). We describe this mutation in a Hispanic pedigree with EPPK for the first time, extending the finding of this mutation in other genetic backgrounds, and demonstrating the prevalence of this mutation in diverse populations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2230.2000.00626.x
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  • 10
    Electronic Resource
    Electronic Resource
    Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa (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: In this work, we studied the proband in a small nuclear family of Chinese and Dutch/German descent and identified two novel mutations in the type VII collagen gene leading to recessive dystrophic epidermolysis bullosa, Hallopeau–Siemens variant (HS-RDEB). The maternal mutation is a single base pair deletion of a cytosine nucleotide in exon 26, designated 3472delC, resulting in a frameshift and a premature termination codon (PTC) within the same exon, 7 bp downstream of the site of the mutation. The paternal mutation is a G→A transition located at the 5′ donor splice site within intron 51, designated IVS51 + 1G→A. This mutation leads to the activation of a cryptic splice site, 32 bp downstream of the mutation site and to subsequent aberrant out-of-frame splicing, resulting in two alternative mRNA transcripts and a downstream PTC. To our knowledge, these two mutations have not been previously reported. These findings extend the body of evidence for compound heterozygous mutations leading to HS-RDEB and provide the basis for prenatal diagnosis in this family.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2230.2005.01763.x
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