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Volumn 48, Issue 3, 2007, Pages 229-232

Novel keratin 5 mutations in epidermolysis bullosa simplex: Cases with unusual genotype-phenotype correlation

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKERATIN 5; GENOMIC DNA; KERATIN;

EID: 35649020736     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2007.07.014     Document Type: Letter
Times cited : (6)

References (10)
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    • Yasukawa K., Sawamura D., Goto M., Nakamura H., Jung S.Y., Kim S.C., et al. Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. Br J Dermatol 155 (2006) 313-317
    • (2006) Br J Dermatol , vol.155 , pp. 313-317
    • Yasukawa, K.1    Sawamura, D.2    Goto, M.3    Nakamura, H.4    Jung, S.Y.5    Kim, S.C.6
  • 2
    • 0033793829 scopus 로고    scopus 로고
    • Coiled-coil trigger motifs in the 1B and 2B rod domain segments are required for the stability of keratin intermediate filaments
    • Wu K.C., Bryan J.T., Morasso M.I., Jang S.I., Lee J.H., Yang J.M., et al. Coiled-coil trigger motifs in the 1B and 2B rod domain segments are required for the stability of keratin intermediate filaments. Mol Biol Cell 11 (2000) 3539-3558
    • (2000) Mol Biol Cell , vol.11 , pp. 3539-3558
    • Wu, K.C.1    Bryan, J.T.2    Morasso, M.I.3    Jang, S.I.4    Lee, J.H.5    Yang, J.M.6
  • 3
    • 17144362174 scopus 로고    scopus 로고
    • Automated splicing mutation analysis by information theory
    • Nalla V.K., and Rogan P.K. Automated splicing mutation analysis by information theory. Hum Mutat 25 (2005) 334-342
    • (2005) Hum Mutat , vol.25 , pp. 334-342
    • Nalla, V.K.1    Rogan, P.K.2
  • 4
    • 0031434675 scopus 로고    scopus 로고
    • A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara
    • Irvine A.D., McKenna K.E., Bingham A., Nevin N.C., and Hughes A.E. A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara. J Invest Dermatol 109 (1997) 815-816
    • (1997) J Invest Dermatol , vol.109 , pp. 815-816
    • Irvine, A.D.1    McKenna, K.E.2    Bingham, A.3    Nevin, N.C.4    Hughes, A.E.5
  • 5
    • 0030865673 scopus 로고    scopus 로고
    • A keratin K5 mutation (Leu 463→Pro) in a family with the Weber-Cockayne type of epidermolysis bullosa simplex
    • Nomura K., Umeki K., Meng X., Tamai K., Sawamura D., Hosokawa M., et al. A keratin K5 mutation (Leu 463→Pro) in a family with the Weber-Cockayne type of epidermolysis bullosa simplex. Arch Dermatol Res 289 (1997) 493-495
    • (1997) Arch Dermatol Res , vol.289 , pp. 493-495
    • Nomura, K.1    Umeki, K.2    Meng, X.3    Tamai, K.4    Sawamura, D.5    Hosokawa, M.6
  • 6
    • 0027315176 scopus 로고
    • Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Koebner type of epidermolysis bullosa simplex
    • Dong W., Ryynanen M., and Uitto J. Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Koebner type of epidermolysis bullosa simplex. Hum Mutat 2 (1993) 94-102
    • (1993) Hum Mutat , vol.2 , pp. 94-102
    • Dong, W.1    Ryynanen, M.2    Uitto, J.3
  • 7
    • 2542526921 scopus 로고    scopus 로고
    • Modeling effects of mutations in coiled-coil structures: case study using epidermolysis bullosa simplex mutations in segment 1a of K5/K14 intermediate filaments
    • Smith T.A., Steinert P.M., and Parry D.A. Modeling effects of mutations in coiled-coil structures: case study using epidermolysis bullosa simplex mutations in segment 1a of K5/K14 intermediate filaments. Proteins 55 (2004) 1043-1052
    • (2004) Proteins , vol.55 , pp. 1043-1052
    • Smith, T.A.1    Steinert, P.M.2    Parry, D.A.3
  • 8
    • 33746724876 scopus 로고    scopus 로고
    • Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly
    • Muller F.B., Kuster W., Wodecki K., Almeida H.J., Bruckner-Tuderman L., Krieg T., et al. Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly. Hum Mutat 27 (2006) 719-720
    • (2006) Hum Mutat , vol.27 , pp. 719-720
    • Muller, F.B.1    Kuster, W.2    Wodecki, K.3    Almeida, H.J.4    Bruckner-Tuderman, L.5    Krieg, T.6
  • 9
    • 33749546468 scopus 로고    scopus 로고
    • Novel mutation (Asp158Val) in H1 domain of keratin 5 gene in a Japanese patient with Koebner-type epidermolysis bullosa simplex
    • Saeki H., Nakamura K., Tsunemi Y., Komine M., and Tamaki K. Novel mutation (Asp158Val) in H1 domain of keratin 5 gene in a Japanese patient with Koebner-type epidermolysis bullosa simplex. J Dermatol 33 (2006) 692-695
    • (2006) J Dermatol , vol.33 , pp. 692-695
    • Saeki, H.1    Nakamura, K.2    Tsunemi, Y.3    Komine, M.4    Tamaki, K.5
  • 10
    • 0032962193 scopus 로고    scopus 로고
    • Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex
    • Rugg E.L., Rachet-Prehu M.O., Rochat A., Barrandon Y., Goossen M., Lane E.B., et al. Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex. Eur J Hum Genet 7 (1999) 293-300
    • (1999) Eur J Hum Genet , vol.7 , pp. 293-300
    • Rugg, E.L.1    Rachet-Prehu, M.O.2    Rochat, A.3    Barrandon, Y.4    Goossen, M.5    Lane, E.B.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.