메뉴 건너뛰기




Volumn 128, Issue 7, 2008, Pages 1648-1652

Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKERATIN 10; MESSENGER RNA;

EID: 45349108510     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/sj.jid.5701257     Document Type: Article
Times cited : (21)

References (13)
  • 1
    • 0027943989 scopus 로고
    • A human keratin 14 "knockout": The absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein
    • Chan Y, Anton-Lamprecht I, Yu QC, Jackel A, Zabel B, Ernst JP et al. (1994) A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein. Genes Dev 8:2574-87
    • (1994) Genes Dev , vol.8 , pp. 2574-2587
    • Chan, Y.1    Anton-Lamprecht, I.2    Yu, Q.C.3    Jackel, A.4    Zabel, B.5    Ernst, J.P.6
  • 2
    • 22944470539 scopus 로고    scopus 로고
    • Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs
    • Credille KM, Barnhart KF, Minor JS, Dunstan RW (2005) Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs. Br J Dermatol 153:51-8
    • (2005) Br J Dermatol , vol.153 , pp. 51-58
    • Credille, K.M.1    Barnhart, K.F.2    Minor, J.S.3    Dunstan, R.W.4
  • 3
    • 0028932967 scopus 로고
    • Deletion of K-ras mutations in DNAs isolated from faces of patients with colorectal tumors by mutant-allele-specific-amplification (MASA)
    • Hasegawa Y, Takeda S, Ichii S, Koizumi K, Maruyama M, Fujii A et al. (1995) Deletion of K-ras mutations in DNAs isolated from faces of patients with colorectal tumors by mutant-allele-specific-amplification (MASA). Oncogene 10:1441-5
    • (1995) Oncogene , vol.10 , pp. 1441-1445
    • Hasegawa, Y.1    Takeda, S.2    Ichii, S.3    Koizumi, K.4    Maruyama, M.5    Fujii, A.6
  • 4
    • 10344262023 scopus 로고    scopus 로고
    • Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex
    • Jonkman MF, Heeres K, Pas HH, van Luyn MJ, Elema JD, Corden JD et al. (1996) Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex. J Invest Dermatol 107:764-9
    • (1996) J Invest Dermatol , vol.107 , pp. 764-769
    • Jonkman, M.F.1    Heeres, K.2    Pas, H.H.3    van Luyn, M.J.4    Elema, J.D.5    Corden, J.D.6
  • 5
    • 7944238356 scopus 로고    scopus 로고
    • Keratins and skin disorders
    • Lane EB, McLean WHI (2004) Keratins and skin disorders. J Pathol 204:355-66
    • (2004) J Pathol , vol.204 , pp. 355-366
    • Lane, E.B.1    McLean, W.H.I.2
  • 6
    • 19344366251 scopus 로고    scopus 로고
    • Mechanistic links between nonsense-mediated mRNA decay and pre-mRNA splicing in mammalian cells
    • Lejeune F, Maquat LE (2005) Mechanistic links between nonsense-mediated mRNA decay and pre-mRNA splicing in mammalian cells. Curr Opin Cell Biol 17:309-15
    • (2005) Curr Opin Cell Biol , vol.17 , pp. 309-315
    • Lejeune, F.1    Maquat, L.E.2
  • 7
    • 0036569985 scopus 로고    scopus 로고
    • A ras-mutated peptide targeted by CTL infiltrating a human melanoma lesion
    • Linard B, Bezieau S, Benlalam H, Labarrire N, Guilloux Y, Diez E et al. (2002) A ras-mutated peptide targeted by CTL infiltrating a human melanoma lesion. J Immunol 168:4802-8
    • (2002) J Immunol , vol.168 , pp. 4802-4808
    • Linard, B.1    Bezieau, S.2    Benlalam, H.3    Labarrire, N.4    Guilloux, Y.5    Diez, E.6
  • 9
    • 0035163065 scopus 로고    scopus 로고
    • Formation of a normal epidermis supported by increased stability of keratin 5 and 14 in keratin 10 null mice
    • Reichelt J, Büssow H, Grund C, Magin TM (2001) Formation of a normal epidermis supported by increased stability of keratin 5 and 14 in keratin 10 null mice. Mol Biol Cell 12:1557-68
    • (2001) Mol Biol Cell , vol.12 , pp. 1557-1568
    • Reichelt, J.1    Büssow, H.2    Grund, C.3    Magin, T.M.4
  • 10
    • 0036629336 scopus 로고    scopus 로고
    • Hyperproliferation, induction of c-Myc and 14-3-3sigma, but no cell fragility in keratin-10-null mice
    • Reichelt J, Magin TM (2002) Hyperproliferation, induction of c-Myc and 14-3-3sigma, but no cell fragility in keratin-10-null mice. J Cell Sci 115:2639-50
    • (2002) J Cell Sci , vol.115 , pp. 2639-2650
    • Reichelt, J.1    Magin, T.M.2
  • 11
    • 33644586429 scopus 로고    scopus 로고
    • Detection of BRAF mutation in thyroid papillary carcinomas by mutant allele-specific PCR amplification (MASA)
    • Sapio MR, Posca SD, Trocone G, Pettinato G, Palombini L, Rossi G et al. (2006) Detection of BRAF mutation in thyroid papillary carcinomas by mutant allele-specific PCR amplification (MASA). Eur J Endocrinol 154:341-8
    • (2006) Eur J Endocrinol , vol.154 , pp. 341-348
    • Sapio, M.R.1    Posca, S.D.2    Trocone, G.3    Pettinato, G.4    Palombini, L.5    Rossi, G.6
  • 12
    • 0038326541 scopus 로고    scopus 로고
    • The molecular genetics of keratin disorders
    • Smith F (2003) The molecular genetics of keratin disorders. Am J Clin Dermatol 4:347-64
    • (2003) Am J Clin Dermatol , vol.4 , pp. 347-364
    • Smith, F.1
  • 13
    • 0041589377 scopus 로고    scopus 로고
    • High prevalence of BRAF gene mutation in papillary thyroid carcinomas and thyroid tumor cell lines
    • Xu X, Quiros RM, Gattuso P, Ain KB, Prinz RA (2003) High prevalence of BRAF gene mutation in papillary thyroid carcinomas and thyroid tumor cell lines. Cancer Res 63:4561-7
    • (2003) Cancer Res , vol.63 , pp. 4561-4567
    • Xu, X.1    Quiros, R.M.2    Gattuso, P.3    Ain, K.B.4    Prinz, R.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.