| 1 | EBS5B, KRT14
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| Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type.
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| Crombie J, Greenlaw S, Fenner J, Lyle S, Wiss K.
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| J Am Acad Dermatol 67(3):e120-1. doi: 10.1016/j.jaad.2011.10.013. No abstract available.
2012
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| 2 | EBS5B, KRT14
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| Novel keratin 14 hotspot mutation in Dowling-Meara type of epidermolysis bullosa simplex: strategy to avoid KRT14 pseudogene amplification by a simple approach.
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| Ołdak M, Kowalewski C, Maksym RB, Woźniak K, Pollak A, Podgórska M, Wnorowski A, Kosińska J, Płoski R.
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| J Dermatol Sci 57(1):69-70. doi: 10.1016/j.jdermsci.2009.09.006. Epub 2009 Oct 24. No abstract available.
2010
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| 3 | EBS2A, EBS2B, EBS3A, EBS3B, EBS5A, EBS5B, KRT5, KRT14
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| Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.
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| Sorensen CB, Ladekjaer-Mikkelsen AS, Andresen BS, Brandrup F, Veien NK, Buus SK, Anton-Lamprecht I, Kruse TA, Jensen PK, Eiberg H, Bolund L, Gregersen N.
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| J Invest Dermatol 112(2):184-90. 1999
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| 4 | EBS5B, KRT14
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| A premature stop codon mutation in the 2B helix termination peptide of keratin 5 in a German epidermolysis bullosa simplex Dowling-Meara case.
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| Muller FB, Anton-Lamprecht I, Kuster W, Korge BP.
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| J Invest Dermatol 112(6):988-90. 1999
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| 5 | EBS5B, KRT14
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| Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14).
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| Shemanko CS, Mellerio JE, Tidman MJ, Lane EB, Eady RA.
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| J Invest Dermatol 111(5):893-5. 1998
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| 6 | EBS3B, EBS5B, KRT14
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| Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex--increased severity of disease in a homozygote.
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| Hu ZL, Smith L, Martins S, Bonifas JM, Chen H, Epstein EH Jr.
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| J Invest Dermatol 109(3):360-4. 1997
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| 7 | EBS2B, EBS3B, EBS5B, KRT14
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| Keratin 14 gene mutations in patients with epidermolysis bullosa simplex.
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| Chen H, Bonifas JM, Matsumura K, Ikeda S, Leyden WA, Epstein EH Jr.
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| J Invest Dermatol 105(4):629-32. 1995
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| 8 | EHK1, EHK2, EBS2A, EBS2B, EBS3A, EBS3B, EBS5A, EBS5B, EPPK
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| Epidermal disease : faulty keratin filaments take their toll.
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| Compton JG.
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| Nat Genet 6 : 6-7. 1994
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| 9 | KRT14, EBS5B
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| A human keratin 14 knockout: the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein.
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| Chan Y, Anton-Lamprecht I, Yu QC, Jackel A, Zabel B, Ernst JP, Fuchs E.
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| Genes Dev 8(21):2574-87. 1994
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| 10 | EBS2B, EBS3B, EBS5B, KRT14
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| A functional knockout of human keratin 14.
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| Rugg EL, McLean WH, Lane EB, Pitera R, McMillan JR, Dopping-Hepenstal PJ, Navsaria HA, Leigh IM, Eady RA.
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| Genes Dev 8(21):2563-73. 1994
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| 11 | KRT14, EBS5B
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| A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.
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| Hovnanian A, Pollack E, Hilal L, Rochat A, Prost C, Barrandon Y, Goossens M.
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| Nat Genet 3(4):327-32. 1993
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| 12 | EBS5B
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| Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses.
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| Coulombe PA, et al.
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| Cell 66 : 1301-1311. 1991
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