1998
DOI: 10.1002/(sici)1098-1004(1998)11:4<279::aid-humu5>3.0.co;2-e
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Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex

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Cited by 42 publications
(29 citation statements)
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“…The clinical phenotype has been reported to depend not only on the location of the gene mutation but on the type of amino acid substitution 6 as the latter has been shown to correlate with the degree of disruption of intermediate filament assembly in vivo. 7 Generally, homozygous mutations in KRT14 result in severe blistering, [8][9][10][11][12][13][14][15] often with extracutaneous involvement. [8][9][10][11][12][14][15][16] Previous reports of recessive EBS cases have shown clustering in geographical regions with a high prevalence of consanguineous unions.…”
Section: Discussionmentioning
confidence: 99%
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“…The clinical phenotype has been reported to depend not only on the location of the gene mutation but on the type of amino acid substitution 6 as the latter has been shown to correlate with the degree of disruption of intermediate filament assembly in vivo. 7 Generally, homozygous mutations in KRT14 result in severe blistering, [8][9][10][11][12][13][14][15] often with extracutaneous involvement. [8][9][10][11][12][14][15][16] Previous reports of recessive EBS cases have shown clustering in geographical regions with a high prevalence of consanguineous unions.…”
Section: Discussionmentioning
confidence: 99%
“…7 Generally, homozygous mutations in KRT14 result in severe blistering, [8][9][10][11][12][13][14][15] often with extracutaneous involvement. [8][9][10][11][12][14][15][16] Previous reports of recessive EBS cases have shown clustering in geographical regions with a high prevalence of consanguineous unions. 8,10,14,17,18 In all, 14 genetically confirmed cases (Table 1) of recessive EBS mutations involving KRT14 have been reported.…”
Section: Discussionmentioning
confidence: 99%
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“…In the early 1990s, three lines of evidence independently identified IF protein genes as the site of mutations leading to epidermolysis bullosa simplex (EBS) and other skin blistering diseases in humans such as epidermolysis hyperkeratosis (3,5,(12)(13)(14)(15)(16)(17)(18)(19). First, Fuchs and co-workers (20) working in cell culture and mouse systems showed that cytokeratin mutations gave rise to EBS-like defects in mice.…”
Section: The Intermediate Filament (If)mentioning
confidence: 99%
“…The H1 region has been implicated in filament assembly and contains major phosphorylation sites that are essential for the regulation of KIF dynamics [12], while the linker and stutter regions provide critical flexibility to the otherwise rigid alpha-helical rod [13]. In addition, a few rare autosomal recessive mutations leading to the 'knock-out' of keratin 14 in the basal epidermis have also been described in EBS [14][15][16].…”
Section: Pathology Of Epidermal Keratins Epidermolysis Bullosa Simplementioning
confidence: 99%