179 related articles for article (PubMed ID: 10597140)
21. Abnormal keratin 1 and 10 cytoskeleton in cultured keratinocytes from epidermolytic hyperkeratosis caused by keratin 10 mutations.
Huber M; Scaletta C; Benathan M; Frenk E; Greenhalgh DA; Rothnagel JA; Roop DR; Hohl D
J Invest Dermatol; 1994 May; 102(5):691-4. PubMed ID: 7513736
[TBL] [Abstract][Full Text] [Related]
22. A transgenic mouse model that recapitulates the clinical features of both neonatal and adult forms of the skin disease epidermolytic hyperkeratosis.
Bickenbach JR; Longley MA; Bundman DS; Dominey AM; Bowden PE; Rothnagel JA; Roop DR
Differentiation; 1996 Dec; 61(2):129-39. PubMed ID: 8983179
[TBL] [Abstract][Full Text] [Related]
23. Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis.
Bonifas JM; Matsumura K; Chen MA; Berth-Jones J; Hutchison PE; Zloczower M; Fritsch PO; Epstein EH
J Invest Dermatol; 1994 Oct; 103(4):474-7. PubMed ID: 7523529
[TBL] [Abstract][Full Text] [Related]
24. Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity.
Syder AJ; Yu QC; Paller AS; Giudice G; Pearson R; Fuchs E
J Clin Invest; 1994 Apr; 93(4):1533-42. PubMed ID: 7512983
[TBL] [Abstract][Full Text] [Related]
25. Epidermolytic hyperkeratosis.
Bale SJ; Compton JG; DiGiovanna JJ
Semin Dermatol; 1993 Sep; 12(3):202-9. PubMed ID: 7692917
[TBL] [Abstract][Full Text] [Related]
26. A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma.
Endo H; Hatamochi A; Shinkai H
J Invest Dermatol; 1997 Jul; 109(1):113-5. PubMed ID: 9204965
[TBL] [Abstract][Full Text] [Related]
27. Epidermolytic hyperkeratosis: applied molecular genetics.
DiGiovanna JJ; Bale SJ
J Invest Dermatol; 1994 Mar; 102(3):390-4. PubMed ID: 7509838
[TBL] [Abstract][Full Text] [Related]
28. Identification of a de novo keratin 1 mutation in epidermolytic hyperkeratosis with palmoplantar involvement.
Math A; Frank J; Handisurya A; Poblete-Gutiérrez P; Slupetzky K; Födinger D; Winter D; Stingl G; Kirnbauer R
Eur J Dermatol; 2006; 16(5):507-10. PubMed ID: 17101470
[TBL] [Abstract][Full Text] [Related]
29. Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation.
Morais P; Mota A; Baudrier T; Lopes JM; Cerqueira R; Tavares P; Azevedo F
Eur J Dermatol; 2009; 19(4):333-6. PubMed ID: 19443303
[TBL] [Abstract][Full Text] [Related]
30. Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q.
Compton JG; DiGiovanna JJ; Santucci SK; Kearns KS; Amos CI; Abangan DL; Korge BP; McBride OW; Steinert PM; Bale SJ
Nat Genet; 1992 Jul; 1(4):301-5. PubMed ID: 1284546
[TBL] [Abstract][Full Text] [Related]
31. Bullous congenital ichthyosiform erythroderma of Brocq.
Kucharekova M; Mosterd K; Winnepenninckx V; van Geel M; Sommer A; van Steensel MA
Int J Dermatol; 2007 Nov; 46 Suppl 3():36-8. PubMed ID: 17973888
[TBL] [Abstract][Full Text] [Related]
32. Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families.
Shamsher MK; Navsaria HA; Stevens HP; Ratnavel RC; Purkis PE; Kelsell DP; McLean WH; Cook LJ; Griffiths WA; Gschmeissner S
Hum Mol Genet; 1995 Oct; 4(10):1875-81. PubMed ID: 8595410
[TBL] [Abstract][Full Text] [Related]
33. Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif.
Coleman CM; Munro CS; Smith FJ; Uitto J; McLean WH
Br J Dermatol; 1999 Mar; 140(3):486-90. PubMed ID: 10233272
[TBL] [Abstract][Full Text] [Related]
34. Arginine in the beginning of the 1A rod domain of the keratin 10 gene is the hot spot for the mutation in epidermolytic hyperkeratosis.
Yang JM; Nam K; Kim SW; Jung SY; Min HG; Yeo UC; Park KB; Lee JH; Suhr KB; Park JK; Lee ES
J Dermatol Sci; 1999 Feb; 19(2):126-33. PubMed ID: 10098704
[TBL] [Abstract][Full Text] [Related]
35. 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
Br J Dermatol; 2005 Jul; 153(1):51-8. PubMed ID: 16029326
[TBL] [Abstract][Full Text] [Related]
36. A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis.
Bolling MC; Bladergroen RS; van Steensel MA; Willemsen M; Jonkman MF; van Geel M
Br J Dermatol; 2010 Apr; 162(4):875-9. PubMed ID: 20500210
[TBL] [Abstract][Full Text] [Related]
37. A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens.
Arin MJ; Longley MA; Epstein EH; Scott G; Goldsmith LA; Rothnagel JA; Roop DR
J Invest Dermatol; 1999 Mar; 112(3):380-2. PubMed ID: 10084318
[TBL] [Abstract][Full Text] [Related]
38. Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.
Arin MJ; Oji V; Emmert S; Hausser I; Traupe H; Krieg T; Grimberg G
Br J Dermatol; 2011 Feb; 164(2):442-7. PubMed ID: 21271994
[TBL] [Abstract][Full Text] [Related]
39. Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the helix termination motif of the keratin 2e gene.
Moraru R; Cserhalmi-Friedman PB; Grossman ME; Schneiderman P; Christiano AM
Clin Exp Dermatol; 1999 Sep; 24(5):412-5. PubMed ID: 10564334
[TBL] [Abstract][Full Text] [Related]
40. Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10.
Covaciu C; Castori M; De Luca N; Ghirri P; Nannipieri A; Ragone G; Zambruno G; Castiglia D
Br J Dermatol; 2010 Jun; 162(6):1384-7. PubMed ID: 20302579
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]